THE UTURE IS NOW

FIRST WORLD CONGRESS

ON SPINA BIFIDA

RESEARCH AND CARE

MARCH 15–18, 2009
Special thanks 

to the support agencies and organizations of the 

First World Congress on Spina Bifida Research and Care:

 · Centers for Disease Control and Prevention 

 · Agency for Healthcare Research and Quality 

 · National Institutes of Neurological Disorders and Stroke, 

National Institutes of Health

 · Spina Bifida Association 

 · Spina Bifida Foundation

Funding for this conference was made possible in part by grant number 1R13SH017978-01 from 

the Agency for Healthcare Research and Quality (AHRQ), award number R13NS065517 from 

the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), 

and grant number 5U59DD000318-02 from the Centers for Disease Control and Prevention 

(CDC). The views expressed in written conference materials or publications and by speakers and 

moderators do not necessarily reflect the official policies of the U.S. Department of Health and 

Human Services; nor does mention of trade names, commercial practices, or organizations imply 

endorsement by the U.S. Government.
First World Congress on 

Spina Bifida Research and Care

March 15 - 18, 2009

Orlando, Florida

Table of Contents

Introduction ........................................................................................................................ 1

Program Planning Committee .....................................................................3 

Neurosurgery

Keynote: Observations on the Evolution of Management of Spina Bifida 

Across an Academic Career ...........................................................5

Meeting Summary ...................................................................................... 13

Epidemiology/Genetics 

Keynote: Insufficient Progress in the Global Progress of Folic 

Acid-Preventable Spina Bifida ..................................................... 21

Meeting Summary ......................................................................................25

Transition

Keynote: Transitioning Adolescents and Young Adults with Spina Bifida 

to Adult Care ................................................................................29

Meeting Summary ...................................................................................... 41

Nursing/Allied Health

Keynote: Nursing Response to Families Living with Spina Bifida: 

Past, Present, and Future ........................................................... 49

Meeting Summary ..................................................................................... 59

Urology

Keynote: Lower Urinary Tract Refunctionalization by Somatic/Autonomic 

Nerve Root Transposition in Children with Spinal Cord 

Abnormalities ............................................................................. 65

Meeting Summary ...................................................................................... 71

Neuropsychology

Keynote: Structural Changes and Dysfunction in the 

Hydrocephalic Brain ....................................................................77

Meeting Summary ..................................................................................... 89

Orthopedics

Keynote: The Orthopedic Care of Children with Spina Bifida: 

What Have We Learned in the Last 30 Years? ............................93

Meeting Summary .................................................................................... 103

Developmental Pediatrics

Keynote: Health Care and Spina Bifida: The Canary in the Coal Mine ....109

Meeting Summary ..................................................................................... 115

MOMS Update .......................................................................................... 122

Appendices 

Hal Pote Memorial Lecture ................................................................ 127

 Participant List .....................................................................................133

 Meeting Agenda .................................................................................. 143 

Introduction

Earl Y. Cheng, MD

Associate Professor of Urology

The Feinberg School of Medicine at Northwestern University

David B. Joseph, MD, FAAP

Professor of Urology

University of Alabama Birmingham

Timothy Brei, MD, FAAP

Associate Professor of Clinical Pediatrics 

Indiana University School of Medicine

The First World Congress on Spina Bifida Research and Care took place 

in March 2009 in Orlando, Florida. During this landmark meeting, 

researchers and clinicians from around the world gathered together to 

discuss clinical and basic science research aimed at improving the care of 

individuals with Spina Bifida. The roots of this meeting began in May 2003 

in Washington, DC when over 100 experts met to discuss the development of 

a research agenda for evidence-based practice in Spina Bifida. The proceedings from this meeting were published by the Centers for Disease Control 

and Prevention (CDC) in what is now known as the Green Book. 

Following the Evidence-Based Research in Spina Bifida meeting in 2004, 

the wheels were put into motion for the First World Congress. Members 

of the Professional Advisory Council (PAC) of the Spina Bifida Association (SBA) recruited several leading researchers in their respective fields to 

form the Program Planning Committee. This group worked diligently over 

several years to put this landmark conference together. The meeting was a 

tremendous success; more than 350 individuals from 30 countries attended. 

Over the course of three days, presentations included keynote talks, multidisciplinary panel discussions, and breakout sessions in eight separate 

disciplines including urology, neurosurgery, neuropsychology, orthopedics, 

developmental pediatrics, epidemiology/genetics/public health, transition, 

and nursing/allied health. A lifetime achievement award was presented to 

David McLone, MD. The format of the World Congress allowed further 

cross fertilization between individuals from numerous specialties and 

different research backgrounds to foster new collaborative research ideas 

for the future. 

First World Congress on Spina Bifida Research and Care 1
This publication summarizes the information from the plenary talks 

and abstract presentations from the First World Congress. Additional 

detailed information from the meeting can also be found on the First World 

Congress Web site (http://medicalconference.spinabifidaassociation.org).

This conference could not have taken place without the generous funding 

and support from numerous sources including the CDC, the Agency for 

Healthcare Research and Quality, the National Institutes of Health, as well 

as industry sponsorship. The collaborative efforts of these government agencies and industry is greatly appreciated and represents the framework that 

will support future advancements in Spina Bifida research in the future. The 

success of this meeting was also a direct result of the efforts of numerous 

individuals who worked tirelessly behind the scenes. This includes members 

of the Board of Directors from both SBA and the Spina Bifida Foundation, as 

well as the PAC, staff of the SBA, and Site Solutions Worldwide.

As we proceed forward from this meeting, it is our sincere hope that the 

seeds have been planted for the growth of new and important research 

agendas in the future. With continued support, these research efforts will 

certainly result in developments that will improve the lives of individuals 

with Spina Bifida and their families. We would like to take this opportunity to thank all of those individuals who attended this meeting and whose 

research comprises this volume. We look forward to working together with 

all our colleagues across the world to promote a worldwide Spina Bifida 

research agenda. 

2 The Future is Now
Program Planning Committee

Adult/Transition

Thomas S. Webb, MD, MSc (Cincinnati Children’s Hospital)

Developmental Pediatrics

Timothy Brei, MD, FAAP (SBA Medical Director, Riley Hospital 

for Children)

Gregory S. Liptak, MD (SUNY Upstate Medical University)

Mark Merkens, MD (Oregon Health Sciences University)

Epidemiology/Public Health

Russell Kirby, PhD (University of South Florida)

Neurosurgery

Jeffrey Blount, MD (University of Alabama – Birmingham)

David McLone, MD, PhD (Children’s Memorial Hospital – Chicago)

Jerry Oakes, MD (University of Alabama – Birmingham)

Neuropsychology

Jack Fletcher, PhD (University of Houston)

Nursing/Allied Health

Mary Jo Dunleavy, BSN (Children’s Hospital of Boston)

Karen Rauen, MSN, RN, BCIAC (Children’s Hospital of Wisconsin)

Orthopedics

Luciano Dias, MD (Children’s Memorial Hospital – Chicago)

John Sarwark, MD (Children’s Memorial Hospital – Chicago)

Lee Segal, MD (University of Arizona College of Medicine)

Physical Medicine/Rehabilitation

Shubhra (Sue) Mukherjee, MD (Rehabilitation Institute of Chicago)

Urology

Earl Y. Cheng, MD (Children’s Memorial Hospital – Boston)

David B. Joseph, MD, FAAP (Children’s Hospital of Alabama)

Stuart Bauer, MD (Children’s Hospital Harvard University)

John Brock, III, MD (Vanderbilt Children’s Hospital)

First World Congress on Spina Bifida Research and Care 3
4 The Future is Now
Neurosurgery

Observations on the Evolution of Management 

of Spina Bifida across an Academic Career

Marion L. Walker, MD

Professor of Neurosurgery

Department of Neurological Surgery

Division of Pediatric Neurosurgery

University of Utah

Salt Lake City, Utah

I have had the rare opportunity to see many changes in the way we manage 

patients born with myelomeningocele. Over the past 37 years, including 

my time as a neurosurgical resident, pediatric neurosurgical fellow, and an 

attending neurosurgeon, the philosophical approach and surgical management of myelomeningocele have changed dramatically. Some of these 

changes are due to technical advances in diagnostic testing, imaging, surgical instrumentation, and surgical technique. However, significant improvement in the long-term outcome can be attributed to a change in our attitude 

regarding the importance of early and aggressive intervention.

Historical Perspective

In order to appreciate the changes in the management of myelomeningocele during the past 30 years, it is important to look at how our approach to 

patients has changed. Before the ventricular shunt was available, very few 

patients survived. Once hydrocephalus became treatable, the decision to 

treat was based on the general neurological status of the patient. Since this 

is such a complex problem and so many of these children have obvious brain 

impairment in addition to spinal cord involvement, treatment was denied 

to many. They were left without surgical intervention to see if they would 

survive. Shunts were implanted in the survivors at a later date to provide 

“custodial care.” 

This approach might best be summarized by a lecture given by Dr. John 

Lorber in 1975. He was discussing the advances of medicine and technology and pointing out that many diseases, such as prematurity and meningitis, that were so difficult to treat before technical advances were now 

much more treatable. He commented, however, that, “Unfortunately, the 

indiscriminate use of advanced techniques of all types has also kept alive 

those who would have died but now live with distressing physical or mental 

First World Congress on Spina Bifida Research and Care 5
6 

handicaps or both, often for many years, without hope of ever having an 

independent existence compatible with human dignity” [1]. As suggested 

by this statement, Dr. Lorber favored treating only those myelomeningocele 

patients that survived with minimal deficits. This became known as selection.

As time passed, many neurosurgeons felt a desire to treat patients who had 

more substantial deficits. Approaches to treatment began to take a more 

moderate approach in some centers, and after Dr. David McLone began 

his practice of pediatric neurosurgery at Children’s Memorial Hospital in 

Chicago in the mid 1970s, more focused management came to be more fully 

accepted. Dr. McLone’s strong interest in these patients led him to question the appropriateness of selection relating to treatment. He noted that 

the argument for selection had become a debatable issue, contingent on the 

answers to several questions:

• Do valid criteria exist that accurately predict the patient’s outcome?

• What percentage of inaccuracy is acceptable?

• How many children will die to ensure that no disabled child will survive?

• Are there universally accepted criteria below which death is preferable?

• Can one person choose death for another [2]?

Dr. McLone made a commitment to treat all patients and kept excellent 

records on each to study outcomes. His first study involved a group of 100 

consecutive nonselected patients with myelomeningocele. He has since 

published the long-term outcomes (20-25 years) on these patients [3]. It is 

now well established that most children born with myelomeningocele can 

have a meaningful and productive life. As complications from this disease 

have been minimized, further studies have shown that these patients do 

not deteriorate as they age solely because they have myelomeningocele. 

Instead, neurological deterioration is almost always due to a treatable cause 

[4]. In this section, I will discuss the approach to diagnosis and the ongoing 

assessment of these patients and point out how our approach to management has changed.

Diagnosis

In the 1970s, a diagnosis of myelomeningocele in a newborn was almost 

always a surprise to physicians and the family. An understanding of the importance of alpha fetoprotein (AFP) was only beginning, and ultrasound was 

in its early stages as a tool for fetal diagnosis. The understanding of associated brain anomalies and hydrocephalus was incomplete. Typically, physicians used air ventriculography to diagnose hydrocephalus, but visualization 

The Future is Now
and understanding of the remaining brain 

anatomy were limited. It was necessary to 

perform a pantopaque myelogram to image 

the spinal cord, but this was impractable 

in most cases because of the low-lying 

and tethered spinal cord. The computed 

tomography (CT) scanner became available in the mid 1970s, and although its 

use greatly added to our understanding of 

brain anatomy in these patients, it was not 

significantly better than conventional myelography when studying the spinal cord.

Detection of myelomeningocele today often begins early in utero. The quadruple screen maternal blood test, which is usually performed at about 16-18 

weeks of gestation, can detect myelomeningocele in a significant percentage 

of pregnancies [5]. High levels of AFP suggest that the fetus has a neural 

tube defect. Prenatal ultrasound is also helpful and is very commonly done 

even for routine pregnancies. If there are questions regarding the accuracy 

of any of these tests, magnetic resonance (MR) imaging of the fetus can give 

definitive answers.

Imaging

Imaging patients with myelomeningocele has changed dramatically over 

the past three decades. Before the advent of CT scanning, imaging of the 

brain was accomplished through angiography, pneumoencephalography, or 

air ventriculography. Although we cannot discount the value of the imaging obtained during those times, the advent of CT scanning and subsequent 

development of MR imaging have dramatically improved our ability to 

evaluate normal and 

abnormal states in 

the central nervous 

system (CNS). In the 

1970s, the approach 

to imaging was generally to wait and see if 

there was a need to 

intervene. 

First World Congress on Spina Bifida Research and Care 7
Routine cerebral angiography was not recommended; nor was routine ventriculography. 

Pneumoencephalography was difficult–if not 

impossible–in patients with myelomeningocele 

because of associated tethered spinal cord and 

scarring at the site of the closure of the myelomeningocele. Today, it is common to obtain baseline MR imaging of the entire CNS in patients 

with myelomeningocele. In our practice, we have 

often delayed baseline MR imaging until the 

patient is approximately one year of age because the anatomical structures 

of the brain and spinal cord can more easily be appreciated after one year 

of age. This baseline imaging is used to document associated brain and/or 

spinal cord abnormalities, which may include the Chiari II malformation, 

with partial or complete absence of the corpus callosum, and hemispheric 

interdigitation. [6-8]

Early MR imaging of the spinal cord shows tethering, which is routinely present in patients because 

of closure of the open neural placode and resulting scarring. When we speak of 

“tethered spinal cord” in the patient with 

myelomeningocele, we are generally referring to 

the clinical diagnosis associated with deterioration of neurological function and the accompanying damage to the distal portion of the spinal cord 

that may result from the scarring associated with 

the earlier surgery.

Neurosurgical Management

Neurosurgical management has likewise changed dramatically over the 

past 30 years. The closure of the placode at the time of the initial surgical 

procedure is far different than in the past; the management of hydrocephalus is changing; and the prospect of intrauterine surgery is bringing new 

promise to the management of myelomeningocele. Ongoing evaluation and 

observation of patients with Spina Bifida has changed significantly through 

the years.

Closure of the neural placode at the time of the initial closure of myelomeningocele is now performed routinely [9]. Prior to 1981, the open neural 

placode was generally left open; however, this allowed scar tissue to adhere 

directly to the placode and made future untethering more difficult for the 

8 The Future is Now
surgeon and risky to the patient [10]. Today, the placode is reapproximated 

into the neural tube. This restores a more normal anatomical appearance 

to the lower spinal cord and allows the surgeon to visualize more normalappearing anatomy if a future untethering procedure is indicated.

Intrauterine Closure of Myelomeningocele

Preliminary clinical reports have demonstrated that intrauterine closure of 

myelomeningocele may be associated with a reduction in shunt-dependent 

hydrocephalus and the Chiari II malformation. [11-16] The Management of 

Myelomeningocele Study (MOMS) is an NIH-sponsored randomized trial 

of intrauterine closure of myelomeningocele being conducted in three different centers [http://clinicaltrials.gov/ct2/show/NCT00060606; accessed 

August 24, 2009]. The experimental arm involves fetal surgery to close the 

Spina Bifida defect prior to 26 weeks of gestation with delivery by Caesarean section at approximately 37 weeks of gestation. In the other arm of the 

trial, the fetus is delivered normally and undergoes postnatal closure of the 

defect when medically stable. The primary outcome measures of this study 

are (1) infant death or need for ventricular shunt by 1 year of life and (2) the 

mental development index on the Bayley Scales of Infant Development and 

functional-anatomical level of the lesion at 30 months of age. Secondary 

outcome measures are (1) the presence of Chiari II malformation, (2) neurodevelopmental status, (3) ambulation status, (4) presence of neuromuscular defects, and (5) grades of maternal, psychological, and reproductive 

functioning. To date, accrual is incomplete so no data are currently available 

for review.

Evaluation and Treatment

The initial evaluation of a newborn with myelomeningocele includes a general physical examination in addition to documentation of the neurological 

findings. Although associated birth defects are relatively uncommon, it is 

important to ascertain whether other systems are involved. In particular, 

patients are evaluated for their cardiac and pulmonary status and for kidney 

and urogenital abnormalities. Ultrasound and/or CT scans of the brain are 

performed as a baseline study. We include an echocardiogram, ultrasound 

of the kidneys, and a voiding cystourethrogram for all patients. 

Management of Hydrocephalus

Despite improvements in other areas of care, shunts placed for the relief of 

hydrocephalus continue to fail at a very high rate [17], and hydrocephalus 

continues to be the most common serious long-term issue for myelomeningocele patients and the most common reason for surgery. The management 

of hydrocephalus is obviously not a new concern. The fact that shunts conFirst World Congress on Spina Bifida Research and Care 9
tinue to fail at a high rate is only a part of the story of the difficulties of managing hydrocephalus from a historical perspective. Perhaps Leo Davidoff, 

a neurosurgeon early in the 20th century stated it best in 1929: “Hardly any 

other pathological condition has been accorded more determined attention 

on the part of the medical profession...than has hydrocephalus and in hardly 

a single other condition have cures been so elusive or so often wrecked on 

purely mechanical obstacles.”

Eighty years after Davidoff’s statement, treatment failure remains the rule, 

not the exception, in the management of hydrocephalus. Approximately 

40% of new shunts fail within a year, 55% fail by two years, and approximately 80% fail within ten years [18]. In some large pediatric neurosurgical services the ratio of shunt revisions to new shunt placements is 2.5 to 

1. Troublingly, hydrocephalus is the one condition for which we have made 

very little progress in the last 60 years [17]. With the invention of the shunt, 

many felt that hydrocephalus had been “cured,” but the long-term outcome 

for hydrocephalus and shunt survival is still similar to that of the early 1960s, 

when shunts became routinely available. Our focus seems to have been 

more on controlling cerebrospinal fluid flow through valves than on correcting the pathophysiology of the underlying hydrocephalus. Currently in the 

neurosurgical community, renewed focus is being placed on a better understanding of the underlying mechanisms of hydrocephalus and finding better 

treatment options [19-22].

Ongoing observation of shunt function is important and has changed 

dramatically over the past 30 years. We now take a more proactive approach 

to the patient with shunted hydrocephalus. Although ongoing baseline 

imaging is not necessary in most patients, a baseline image obtained after 

initial shunt placement and after shunt revision is important. We obtain 

images of patients several months after a shunt revision to establish a new 

baseline. This is extremely important when shunt failure occurs, especially 

when the patient may be under the care of a new physician or institution. 

Cognitive development is now recognized to be an important assessment of 

shunt function. Cognitive function, including an ongoing evaluation of the 

patient’s school performance, is now included as a part of the assessment of 

shunt function. 

We now recognize that neurological deterioration of a patient with myelomeningocele is not a normal progression of the disease [4]. Thirty years ago 

this process was not well understood. We also recognize that neurological 

changes almost always have an underlying treatable cause. The most common cause is shunt malfunction. The second most common is tethering of 

the spinal cord.

10 The Future is Now
Chiari II Malformation

When I entered neurosurgical practice in the 1970s, it was quite common 

to surgically decompress a Chiari II malformation when a patient showed 

neurological changes suggesting brain stem dysfunction. That approach has 

changed dramatically through the years. It is now well recognized that many 

symptoms suggestive of Chiari II deterioration are attributable to shunt 

malfunction. Even if a patient has stable ventricular size, a shunt revision 

will often result in neurological improvement. As a result, Chiari II decompression is rarely performed now [4, 7, 23].

We have learned through experience that symptoms attributable to the 

Chiari II malformation fall roughly into three groups. In patients born with 

symptoms suggestive of Chiari II malformation, surgery is not helpful. In 

patients with no early signs of Chiari II dysfunction who later develop brain 

stem dysfunction during infancy, surgery may be useful in a small percentage if the shunt is eliminated as the underlying cause of the dysfunction. For 

the older patient who has never had Chiari II-like symptoms and who has 

not improved after shunt revision, surgical decompression may have a better 

chance of success. The fact that shunt revision so often results in improvement of neurological status and Chiari II decompression has been much less 

successful has led to the mantra of the neurosurgery management of the 

patient with hydrocephalus: “It’s always the shunt.”

Tethered Spinal Cord

Tethered spinal cord is another neurosurgical condition that must be monitored on a long-term and ongoing basis in patients with myelomeningocele. 

Between 25% and 35% of patients will require surgical untethering of their 

spinal cord at some point [4].

The clinical presentation of the tethered spinal cord is quite typical in 

patients with myelomeningocele. Patients often complain of a very specific 

type of pain, usually in the lower back. The pain is worsened with activity, 

like walking, and improves with rest. When the patients rest, the pain will 

go away. Once they start walking again, the pain recurs until they rest, and 

the pain goes away. There is a neurologic claudication component to the 

pain. Compared to 30 years ago, we have a much better understanding of the 

pathophysiology underlying this clinical presentation [24]. Other symptoms and signs associated with tethered cord include progressive orthopedic deformities, scoliosis, changes in bowel and bladder continence, motor 

weakness, sensory changes, disturbances of gait, and, rarely, disturbances in 

upper extremity function.

Progressive orthopedic deformities may be a sign of tethering. Orthopedic 

surgical repair in patients who have spinal cord tethering may not be mainFirst World Congress on Spina Bifida Research and Care 11
tained. We have learned that repair of a deformity that “won’t stay fixed” 

is often an indicator of spinal cord tethering. Progressive scoliosis is also 

often related to tethering [4, 25-27]; however, scoliosis progression will 

often stop and the scoliotic deformity will often improved if untethering 

is performed early. 

The classic “red flag” sign for tethered cord is a change in bladder continence 

[28]. Most patients who have myelomeningocele can be socially continent 

using intermittent catheterization techniques. Losing the ability to remain 

continent when compared with previous abilities is a strong indicator of 

tethering. These changes can also be documented with urodynamic testing 

and repeated for comparison purposes over time.

Knowing the history of the patient’s neurological status is important in 

assessing whether tethering is occurring. Changes in urological function 

over time are usually associated with some degree of tethered cord. We 

have learned that manual muscle testing is a very reproducible test that 

can be used in a clinic setting to monitor patients through time. We believe 

it is also important to include upper extremity testing. Progressive loss of 

strength in upper or lower extremities is a common sign of deterioration 

secondary to tethering.

Genetics

Genetics is an area in which we will see the most significant advances in the 

prevention and treatment of myelomeningocele. Our understanding of the 

neurulation process, including normal and abnormal states, has changed 

dramatically over the past two decades. Advances in molecular genetics 

now lead us to a better understanding of the underlying mechanisms of the 

abnormalities associated with myelomeningocele and may, perhaps, lead to 

earlier diagnosis and treatment.

Conclusion

I have had the rare privilege of seeing significant changes in the diagnosis and management of patients with myelomeningocele. These patients 

routinely bring abundant love and closeness to a family. They are brave. I 

see them face their neurological and associated problems with uncommon 

courage. I continue to be amazed at their positive attitudes and the way they 

face their trials. I feel certain that we will see much more progress toward an 

effective treatment and, someday, a cure.

12 The Future is Now
Meeting of the Section of Neurological Surgery

The three core neurosurgical issues in caring for patients with Spina Bifida 

are hydrocephalus, tethered spinal cord, and the Chiari II malformation. 

Insights and advances have been made in each of these areas and central 

concepts have emerged. Yet much remains to be learned and ideas and approaches differ significantly between centers. The Neurosurgery breakout 

session centered on these ideas and incorporated two reports on the care of 

patients with Spina Bifida (SB) from around the world.

Hydrocephalus

Hydrocephalus and its multitude of manifestations in the patient with SB 

remain a great challenge. Eighty five percent of patients with myelomeningocele develop hydrocephalus and require a ventricular shunt. Ventricular 

shunts were developed in the early 1960s and have saved thousands of lives 

of patients affected by hydrocephalus. Despite the tremendous contributions of ventricular shunts, however, they have a high rate of failure that is 

unpredictable. Forty percent of shunts fail within a year of placement, sixty 

percent within two years and 80 percent within a decade of placement. 

Shunt infection rates vary widely in reported series but repeated numbers 

from large experienced centers are around 6% to 8%. Sadly these statistics are not significantly different from those reported 25 years ago, which 

indicates a discouraging lack of progress in this area of critical importance 

to the SB community. One of the reasons that little progress has been made 

is that shunt failure and shunt infection have multi-factorial etiologies. As 

such a large number of factors need to be controlled for in the construction 

of organized clinical trials. To date the neurosurgical literature has been 

remarkably sparse on organized clinical trials in hydrocephalus research. 

This in part results from a state of under-funding of hydrocephalus research 

in general and hydrocephalus in SB in particular.

The failure rate of ventricular shunts has prompted a search for alternate 

techniques to treat hydrocephalus. The endoscopic third ventriculostomy 

(ETV) is one such option. The principle of ventricular shunts is to give an 

alternative pathway for the spinal fluid to be shunted outside of the nervous 

system. The ETV by contrast opens an alternative pathway for the cerebrospinal fluid to flow to the outside of the brain where it is normally reabsorbed. Several papers addressed ventricular shunts and ETV at the First 

World Congress Neurosurgery breakout session.

First World Congress on Spina Bifida Research and Care 13
Roger Bayston from Nottingham, United Kingdom, who has dedicated a career to studying CSF shunts and patterns and prevention of shunt infection, 

presented two papers. The first addressed the results of a survey obtained 

from patients with ventriculo-peritoneal (VP) shunts compared with those 

who have ventriculo-atrial (VA) shunts. VA shunts were developed first and 

direct the diverted spinal fluid directly back into the blood stream because 

the distal catheter is placed in the right atrium like a central venous line. VA 

shunts were essentially replaced by VP shunts over time as VA shunts were 

shown to have serious complications such as bacterial endocarditis, shunt 

nephritis (a cause of kidney failure) and thrombus propagation with risk 

for pulmonary embolus. The severity of these complications has prompted 

a rather sinister reputation within neurosurgery for VA shunts. Bayston’s 

paper addressed whether this reputation was well founded in the current 

era. The authors surveyed 405 adult patients from a large public health service database with VA shunts and matched them with 405 patients with VP 

shunts. This retrospective survey found that the incidence of infection and 

obstruction were similar and that the severe problems of thrombus formation and nephropathy were extremely low. One limitation of this study is 

that if individuals with VA shunts had died already from complications, they 

would not be available for this retrospective evaluation. They concluded that 

VA shunts should remain a viable alternative when VP shunting is not possible. This is particularly important in the SB population as urologic procedures can make placement in the peritoneum untenable. 

Bayston’s second paper addressed the role that antimicrobial impregnation 

of shunt catheter material plays in the prevention of shunt infection. This 

topic has been extensively discussed and widely contested at neurosurgical 

meetings for several years because different groups from around the world 

have found widely different results when shunts are constructed of materials that have antimicrobials directly impregnated into them. Some groups 

have found little difference in shunt infection rates while others have found 

a pronounced reduction in shunt infection when antimicrobial materials are 

utilized. In this study, Bayston’s group showed the effectiveness of the antimicrobial shunt catheter to kill three species of microorganism commonly 

implicated in shunt infection.

Outcome measures for children with SB who underwent shunting were 

reported by Robinson et.al. from Rainbow Babies Hospital in Cleveland. 

This study used a standardized, validated instrument (the Hydrocephalus 

Outcome Questionnaire) to survey outcomes of a group of 55 patients followed in the SB clinic. In this survey the 55 patients, who did not differ from 

non-study patients followed in the clinic, reported lower physical domain 

scores if they had symptomatic Chiari II malformations or required spinal 

cord untethering. Interestingly the 85% of patients who required a VP shunt 

did not have lower scores; however, shunt revision beyond the age of 2 years 

14 The Future is Now
was associated with lower scores in cognitive domains. Infections slightly 

lowered physical domains with no difference in other domains. Limitations 

included the small sample size, multiple management strategies for addressing the different issues and lack of detailed neuropsychological evaluation.

Blount and colleagues reported in a retrospective series from Birmingham, 

AL, that intradural spinal surgery was associated with an increased rate of 

CSF shunt failure. This group worked cooperatively with their orthopedic 

colleagues who surveyed similar data for extradural spinal surgery. Intradural spinal surgery was clearly associated with elevated shunt obstruction 

rates whereas extradural spinal surgery was not. The authors concluded that 

either the spine surgery was contributing to shunt obstruction via an unidentified mechanism, or patients with blocked shunts were presenting with 

signs and symptoms of tethered cord as their initial and singular manifestation of shunt insufficiency.

Dr. Wakhlu and colleagues presented a large retrospective series from India 

that supported the contention that insertion of the shunt at the same time 

of myelomeningocele closure in babies with open SB was not associated 

with increased shunt complications. This has been an issue of discussion 

and contention for some time and is particularly important in an era of 

increasing attention to resource utilization. A presentation by Dr. Jogi Pattisipu from Orlando embraced the importance of a standardized protocol, 

rigorous attention to detail and contemporary technologies such as endoscopy to manage the complex hydrocephalus that often accompanies SB.

The award for the best overall paper given at the First Annual Congress was 

awarded to Dr. Ben Warf, who presented outcome data on a series of patients treated with shunts who were compared with a matched group treated 

with endoscopic third ventriculostomy (ETV). The data were compiled 

from a large group of patients treated by Dr. Warf when he directed the 

neurosurgical program at CURE-the Children’s Hospital of Uganda. These 

authors emphasize the importance of choroid plexus coagulation (CPC) at 

the same time ETV is performed. Prior reports from their group had established a high rate of effectiveness for the combined ETV-CPC procedure. A 

concern commonly expressed in the debate about ETV versus shunting is 

whether or not the larger ventricles tolerated after successful ETV are associated with cognitive impairments not seen with the smaller ventricles that 

typically accompany a successful shunt. Dr. Warf and team administered a 

standardized instrument of outcome (Bayley Scales of Infant Development) 

to three groups that they identified from their larger population. The first 

group required no treatment for hydrocephalus. The second underwent a 

VP shunt and the third group underwent ETV-CPC. No differences were 

found in outcome among groups. When these results were combined with 

prior findings from this group they concluded that ETV-CPC treats children 

First World Congress on Spina Bifida Research and Care 15
with hydrocephalus from SB with lower risk of failure and infection without 

compromising neurocognitive development. The paper stirred significant 

interest and debate. The central issue was whether or not these results could 

be reasonably extrapolated to other populations of patients with SB. 

Chiari II Malformation

The diagnosis and treatment of the Chiari II malformation has undergone 

significant evolution over the past 25 years. Initially this hindbrain abnormality was thought to arise as a result of insufficient space in the posterior 

fossa of the skull for the brainstem and the cerebellum. MRI images showed 

neural elements such as the medulla and pons to be caudally displaced and 

“pushed down” into the top of the spinal canal. The predominant concept 

initially was that insufficient physical space and crowding gave rise to the 

signs and symptoms of brainstem insufficiency that have become known as 

the symptomatic Chiari II malformation. In clinical terms these consist of 

altered swallowing, stridor (in infants), poor airway protection, poor secretion management and poor respiratory drive in very young infants. Aggressive surgical intervention aimed at making the physical space available to 

the brainstem and rostral spinal cord marked the earliest era of neurosurgical thinking about the Chiari II malformation. Results from that era were 

decidedly mixed and far less favorable than would have been anticipated if 

the pathophysiology of the Chiari II malformation were simply an issue of 

physical space for the neural structures. 

This led to a gradual evolution in thinking about the Chiari malformation 

that holds that the brainstem in children with myelomeningocele is fundamentally malformed to a variable degree (between patients) and that this 

fundamental problem is at the cellular level and hence not correctable by 

surgery. As a result of this condition the compromised brainstem in these 

children is uniquely sensitive to any other physiologic stressor. In children 

with myelomeningocele the overwhelmingly most common stressor would 

be hydrocephalus or insufficient shunt function. Therefore a recent interest 

and gradual evolution has occurred toward aggressively addressing shunt 

function as the first and most significant intervention in managing the 

symptomatic Chiari II malformation. 

Because of the centrality of hydrocephalus in the current thinking about the 

symptomatic Chiari II malformation, ongoing discussions about the Chiari 

II malformation occurred during the session on hydrocephalus. It is evident 

that significant differences between large experienced centers still occur in 

the use of posterior fossa decompression in the treatment of symptomatic 

Chiari II malformations. Dr. Trumble’s paper about management strategies 

for the symptomatic Chiari malformation served as a further forum in which 

these issues were debated.

16 The Future is Now
Tethered Spinal Cord 

The tethered spinal cord (TSC) is another issue of controversy in neurosurgery. While there is general agreement that all patients with myelomeningocele harbor some element of physical tether at the closure site due 

to normal routine scarring, differences occur among centers regarding the 

aggressiveness with which surgical untethering is pursued and in the techniques utilized once surgery is undertaken. Olavarria and colleagues presented a large retrospective series of 70 children with TSC who underwent 

operative untethering. Some patients had lipomyelomeningocele or dermal 

sinus tracts. Results were excellent, with 90% relief of pain and >70% demonstrating restoration of urologic function to preoperative levels. Less than 

1% demonstrated neurologic decline. This series echoed several larger but 

older series in the literature and reflected what appear to the most widely 

held beliefs within the neurosurgery community; namely that pain is largely 

relieved, neurologic decline arrested but not restored and operative risks of 

imparting severe lasting neurologic insult are low.

Meurrens from Leuven Belgium and Partington from Gillette Children’s 

Hospital in St. Paul, Minnesota both addressed the challenging issue of 

adult TSC. Meurren’s group reviewed a series of 33 adult patients who were 

evaluated for TSC. Twenty-six patients underwent surgical release. Adults 

most commonly undergo TSC release for relief of pain and are often found 

to have multiple neurologic anomalies of varying subtlety. Partington 

emphasized the role of trauma (especially seemingly minor trauma) in the 

onset of symptomatic TSC in adults. Often repetitive lumbar flexion maneuvers were implicated. When pulsed steroids failed to provide relief, surgery 

was advocated with good relief of pain and stabilization of neurologic 

decline.

The paper that challenged conventional concepts the most was presented by 

Robin Bowman from Children’s Memorial Hospital in Chicago. The paper 

was entitled “Does the ‘Benign’ Sacral Dimple Exist?” It addressed a common entity that neurosurgeons are called upon to evaluate, the coccygeal 

pit. These are small crevices that occur in the skin over the lower back and 

the top part of the gluteal crease. Current widely accepted concepts hold 

that these abnormalities are uniformly non-tethering lesions if they are (1) 

within the gluteal crease, and (2) not associated with any other abnormality of the skin such as excess hair, discoloration, hemangiomas or fat lumps. 

These lesions are known as “benign sacral dimples” or “coccygeal pits.” 

Those lesions that have those additional characteristics are known to be at 

high risk of traversing the space from skin to nervous system and producing a tether associated with a lipoma, lipomyelomeningocele, dermal sinus 

tract, or more rarely a diastematomyelia. Most pediatric neurosurgeons 

evaluate dozens of such patients in a year and do not routinely image those 

with lesions characteristic of benign sacral pits. 

First World Congress on Spina Bifida Research and Care 17
Bowman’s group at Children’s Memorial obtained MRI scans of the lumbar 

and sacral spine on patients treated in their clinic with these diagnoses. Of 

75 patients enrolled, MRI scans were obtained on 70. Radiographic abnormalities were found in an alarming number. Twenty three percent had fat in 

the filum (a marker that can be associated with tethering but is not pathognomonic per se). Ten percent had a low riding conus medullaris and 7% had 

either hydromyelia or an open canal. Those patients who had low riding 

cords were further evaluated with urodynamic studies; two-thirds were 

found to have sufficient functional abnormalities to warrant surgical exploration and release. These results were worrisome to the collected audience 

of neurosurgeons who have all embraced similar principles in clearing these 

patients. These principles have been developed over time and repeated observations between large centers of excellence. If the results from the Bowman paper are taken at face value it may appear that a significant number 

of such patients have been missed by conventional screening criteria. The 

strongest evidence against the assertion of the paper may be that there has 

not been any such wave of adults with sacral dimples and symptomatic TSC 

observed in clinical practice. If indeed 20% of patients with sacral dimples 

developed symptomatic TSC then there would have to be a huge number of 

adults requiring surgery. Clearly this study requires further attention and 

repetition at other centers and will undoubtedly be a topic of lively discussion in the future.

International Care

Finally we also gained some insight into the differences with which neurosurgical issues are managed around the world with presentations that 

discussed the care of children with SB from Slovakia and Japan. Horn and 

colleagues presented a fascinating though brief review that showed the 

evolution of thinking and approach toward the surgical treatment of children with open myelomeningocele in Slovakia. They performed a retrospective analysis of all children with meningomyelocele treated at their facility 

between 1988 and 2007 and defined groups as ‘open defect’ or ‘closed defect,’ 

and by the decade in which they were treated. In the earliest part of the 

study (1988-1997) 14/106 (13%) children born with an open defect did not 

undergo surgery to close the defect within the first month of life. By 1998 

56/57 (98%) were operated on within the first month of life. Ventricular 

shunts were only placed in a total of 36 patients.

18 The Future is Now
Inagaki and colleagues discussed the role in which ultrasound is used by the 

OB-GYN and neonatology community for pre-natal screening of severe congenital anomaly. Termination of pregnancy is considered an option until 22 

weeks gestation and is often recommended if a severe anomaly is detected. 

The Japanese Society of Pediatric Neurosurgeons is investigating ways that 

these studies and their results can be pursued with families in a more multidisciplinary fashion.

Conclusions

We had a wonderful seminar that featured 14 different presentations from 

6 different countries and several continents. This was a remarkable showing given a steady decrease in the numbers of abstracts about Spina Bifida / 

myelomeningocele at recent neurosurgical meetings and the fact that this 

meeting was the first of its kind. The neurosurgical issues surrounding the 

care of the patient with myelomeningocele remain challenging. Principles 

have emerged based on organized observations of talented, experienced and 

disciplined observers. 

Hydrocephalus remains a core problem for which shunts have been the 

principle solution. Shunts have saved thousands of lives but are fraught with 

problems and limited progress has been made in solving them. Endoscopic 

third ventriculostomy may offer an alternative solution but results are mixed 

and SB patients fare poorly with ETV in many series. There has been an 

evolution away from direct surgical decompression of the posterior fossa in 

symptomatic Chiari II malformation. Surgical release of the symptomatic 

TSC improves pain; arrests neurologic decline and poses limited risk for permanent neurologic injury. Each of these principles is both widely embraced 

and under frequent thoughtful challenge. Much is known but much more 

needs to be known.

First World Congress on Spina Bifida Research and Care 19
20 The Future is Now
Epidemiology/Genetics

Epidemiology: The scientific basis for creating 

political will to prevent Spina Bifida and 

improve the lives of persons with the condition

Godfrey P. Oakley Jr., MD, MSPM

Research Professor of Epidemiology

Rollins School of Public Health of Emory University

Email: gpoakley@mindspring.com

Disclosure Statement:

I am a co-inventor of a patent that covers adding folic acid to contraceptive 

pills. While at the CDC, compensation, if any, will be under the regulations of 

the CDC. I have been a paid consultant to Ortho McNeil/Johnson and Johnson on this issue and may in the future. I have not done paid consulting on 

this issue during the last two years.

Prevention is urgent!

I like the title of this conference–The Future Is Now. What we do–or do not 

do–now does create the future. I also like the statement “The Fierce Urgency of Now.” Nowhere is there more urgency than the global elimination 

of folic acid-preventable Spina Bifida [1-3]. 

As a Spina Bifida community, we have collectively failed to tell our story 

effectively enough to create the political will for the resources we need to 

provide the best quality of care for persons with Spina Bifida, and to maximize the prevention of new cases of Spina Bifida. Epidemiological research, 

the key to providing the scientific basis for the prevention of folic acid-preventable Spina Bifida, can be the basis for tracking global prevention or lack 

of prevention.

Epidemiological Studies

Epidemiological studies can also improve the lives of persons with Spina Bifida by showing us interventions that actually help. Epidemiologic research 

can improve the care of persons with Spina Bifida; several areas deserve immediate action:

First World Congress on Spina Bifida Research and Care 21
1. Registry of all persons with Spina Bifida 

The cystic fibrosis community established a registry of most persons with 

cystic fibrosis many years ago. Analyses of data collected suggested that 

some patients did remarkably better than others. Investigations of the care 

given in those centers where children did better (positive deviants) provided 

the basis for improvement in the lives of all persons with cystic fibrosis. 

While it is not possible to predict exactly what benefit a registry of all 

persons with Spina Bifida would have, it is reasonable that clues to improvement will come.

2. Registry of the cause of death in all with Spina Bifida

We know of too many deaths of young adults with Spina Bifida, but we have 

not documented them; nor have we determined the causes of these deaths. 

If we had a registry of all deaths of persons with Spina Bifida and if we knew 

the cause of these deaths, we could find scientific clues to prevent future 

deaths. 

3. Randomiz ed controlled trials of components of care for persons 

with Spina Bifida

Evidence-based medicine, i.e., using the best data to guide medical treatment, is currently in vogue. The best evidence comes from randomized 

controlled epidemiological studies. Unfortunately, there have been few 

randomized controlled trials about the components of care for persons 

with Spina Bifida. These studies are critical to improving the lives of 

persons with Spina Bifida by showing whether or not a particular intervention actually works.

Epidemiologic Research and the Prevention of Spina Bifida

1. The failure to prevent folic acid-preventable Spina Bifida

One of the most important research studies ever reported was the epidemiologic study that showed in a randomized controlled trial that folic acid 

would prevent the majority of cases of Spina Bifida. I had assumed that 

this amazing scientific contribution would be immediately followed by 

the near total prevention worldwide in a few years. However, after 20 years, 

only about 10% of the Spina Bifida that can be prevented has been prevented 

[1]. The total prevention of folic acid-preventable Spina Bifida remains a 

dream because of lack of political will to provide sufficient resources for 

prevention.

It is instructive to look at the Polio Eradication Program. When it began in 

the late 1980s, approximately the same number of annual global cases of 

polio occurred as the current numbers of children born with Spina Bifida 

22 The Future is Now
and Anencephaly. The political will was created to give CDC an annual appropriation of $200 million to provide scientific leadership and technical 

assistance and science-based advocacy for the polio eradication program. 

That program has been highly successful, preventing more than 99% of polio in the world. The up-to-the-date status of the Polio Eradication Program 

can be found at http://www.polioeradication.org/. This web site shows the 

incidence of Polio in every country. For example, in the first six months of 

2009, 89 cases were reported in India. A reasonable estimate of the number 

of cases of folic acid preventable Spina Bifida in India annually is 20,000. 

Folic acid-preventable Spina Bifida is as preventable as Polio, but the political will for the leadership and resources is lacking; therefore, the Spina 

Bifida epidemic continues every day.

A well-funded center whose mission is the total prevention of folic acidpreventable Spina Bifida is necessary. The CDC would be a logical institution, as it has shown it can provide the leadership to eradicate Smallpox 

and has provided considerable leadership and resources to bring about the 

near eradication of Polio. Given resources similar to those available for Polio 

eradication at CDC, the birth defects group at CDC could achieve within a 

decade the near global elimination of folic acid-preventable Spina Bifida. 

The political will to fund this center is lacking.

2. Science-based advocacy to prevent Spina Bifida caused by 

valproic acid 

In the early 1980s, epidemiologic research produced the evidence to show 

that in utero exposure to valproic acid increased by 10-fold the risk of a 

woman having a baby with Spina Bifida. The drug remains on the market in 

many countries and in some countries it has been approved for new indications. Good data on the current global incidence of valproic acid induced 

Spina Bifida are lacking. Improved epidemiologic studies of the occurrence 

of valproic acid induced Spina Bifida would provide part of the science base 

to promote the prevention of these birth defects. 

3. Maternal Diabetes associated Spina Bifida

Maternal Diabetes increases the risk that the baby will be born with Spina 

Bifida. It is possible that folic acid fortification prevents this increase, but 

it has not been studied. Women who have better control of their Diabetes 

have a lower prevalence of birth defects, suggesting that improved care of 

women with Type 1 diabetes would lead to a decrease in Spina Bifida. The 

prevention of the birth defects, including Spina Bifida, associated with 

Maternal Diabetes is an area rich in prevention possibilities; it is likely to be 

realized only when the political will is created to fund a center to maximize 

the prevention of birth defects associated with Maternal Diabetes.

First World Congress on Spina Bifida Research and Care 23
4. Finding other causes of Spina Bifida

Although folate deficiency, the use of valproic acid during pregnancy and 

Maternal Diabetes are the causes for most cases of Spina Bifida, children 

continue to be born with Spina Bifida who do not have these risk factors. 

Epidemiological research, such as the research that found the folate deficiency, valproic acid and Maternal Diabetes associations should be conducted to find the other causes of Spina Bifida.

Conclusions

Epidemiologic research can improve the lives of persons with Spina Bifida 

by identifying the most effective forms of care and the preventable causes 

of young adult deaths. Ample opportunity exists for significantly decreasing 

the occurrence of Spina Bifida by preventing Spina Bifida associated with folic acid deficiency, prenatal valproic acid exposure, and Maternal Diabetes.

The pace at which the lives of persons with Spina Bifida can be improved 

and the pace at which the prevention of Spina Bifida can be improved 

require the identification of substantial, new resources devoted to these 

priorities. The CDC has shown that, when it had sufficient resources, it was 

able to provide the leadership and technical assistance to eradicate Smallpox 

and to nearly eradicate Polio. An annual CDC appropriation of 200 million 

dollars could be expected to increase dramatically the pace of the improvement in the lives of persons with Spina Bifida as well as increase the pace of 

the prevention of Spina Bifida.

References

1. Bell KN, Oakley GP, Jr. Update on prevention of folic acid-preventable Spina Bifida and anencephaly. Birth Defects Research (Part A) 

2009;85:102-7.

2. O akley GP, Jr. Birth defects prevention: “the fierce urgency of now”. Birth 

Defects Research (Part A) 2008;82:745-7.

3. O akley GP, Jr. The scientific basis for eliminating folic acid-preventable 

Spina Bifida: a modern miracle from epidemiology. Ann Epidemiol 

2009;19:226-30.

24 The Future is Now
Meeting of the Section of Epidemiology, 

Public Health, and Genetics

This session consisted of presentations grouped in the following areas: epidemiology of Spina Bifida, outcomes for persons with Spina Bifida, public 

health initiatives concerning Spina Bifida, and the genetic basis of Spina 

Bifida. The session was moderated by Godfrey P. Oakley, Jr., MD, MSPM, 

whose keynote lecture remarks appear earlier in this report.

Joseph Mulinare, MD, provided an international perspective on efforts to 

prevent neural tube defects through flour fortification with folic acid. The 

presentation began with a brief overview of the epidemiology of neural tube 

defects (NTDs), and a discussion of guidelines for reaching women of reproductive age to prevent NTDs. Data from the US and globally on the impact 

of folic acid fortification and supplementation on prevention of NTDs were 

presented. Dr. Mulinare provided a brief perspective on issues about benefits and potential harms related to the use of folic acid.

From the perspective of primary prevention of NTDs in the US, a major 

challenge is how to reach Hispanic women. This group has both a higher 

risk of NTDs than other race/ethnic groups (WilliamsL et al. Pediatrics 

2005) and lower folic acid (FA) intakes than white non-Hispanic women 

(Yang QE et al. Am J Clin Nutri 2008). Current public health strategies are 

focused on reducing the prevalence of NTDs and increasing FA intake of 

Mexican American women, modeling folic acid intakes for corn masa flour 

and evaluating the pros and cons of adding folic acid to corn masa flour.

The available evidence demonstrates that blood folate levels among women 

of reproductive age have increased substantially in the US since folic acid 

fortification. The decreasing NTD numbers are consistent with an increase 

in folic acid content in flour and foods. Current decreases in NTD prevalence do not necessarily reflect the full prevention potential of folic acid. 

Fortification of foods with folic acid is feasible, economical, and effective 

public health policy. At the present time, there are no proven adverse effects 

of folic acid fortification.

Yet, from the perspective of primary prevention and public health, the 

unanswered question remains. How will we know when we have reached the 

point at which all folic acid-preventable NTD have been eliminated? Will 

this be when NTD rates stabilize at some specified level, or when all women 

reach a specified consumption of folic acid or blood level for folate, or perhaps, when we fully understand the underlying biology of prevention?

Dr. Mulinare’s presentation was followed by a series of four presentations 

examining patterns of Spina Bifida health care utilization and expenditures, 

First World Congress on Spina Bifida Research and Care 25
coordinated by Judy Thibadeau, RN, MN. This portion of the agenda began 

with an overview of the National Spina Bifida Program, which broadens the 

public health agenda for Spina Bifida in terms of treatment, health status 

and outcomes, and secondary prevention initiatives. The four presentations 

included data on the most frequent and costly outpatient medical conditions utilized by people with Spina Bifida stratified by age. They compared 

the percentage of people affected by these conditions among those with 

and without Spina Bifida, calculated expenditures for these conditions for 

people with Spina Bifida, and provided estimates of medical expenditures 

for Medicaid-enrolled children and adolescents with Spina Bifida in the 

United States. They compared these findings with previously estimated expenditures for privately insured children and adolescents with Spina Bifida 

(Ouyang et al (2007) using the 2003 MarketScan Commercial Claims and 

Encounters database. The Veterans Administration Spina Bifida Health Care 

Program Database was also described.

Melissa Danielson, MSPH presented an analysis of patterns of mortality 

associated with Spina Bifida in the United States for the years 1979 to 2005. 

Median age at death has increased among individuals with Spina Bifida during this period. Decubitus ulcers and conditions of the nervous and urinary 

system are much more frequent causes of death among individuals with SB 

than general population. 

The oral session concluded with two presentations concerning the genetics of Spina Bifida. Michelle O’Byrne, MS, examined the association of 

folate metabolic pathway genes with meningomyelocele in humans. Allison 

Ashley-Koch, PhD, provided a summary of current knowledge of the genetic 

basis of Spina Bifida, addressing three general questions: are NTD’s genetic, 

can animal models help to disentangle NTD genetics, and what specific 

genes are involved? Genetics research uses several approaches to focus investigations, including patterns of familial clustering, increased recurrence 

risks, twin studies, and patterns of NTD co-occurrence with chromosomal 

abnormalities and other genetic syndromes.

Approaches to identifying disease susceptibility genes include genomic 

screens, candidate gene analysis, and genomic screen and linkage analysis. Genomic screens begin with no a priori hypothesis, look across entire 

genome. Linkage analysis studies families that have more than one person 

with a disorder. Genome wide association studies (GWAS) examine families 

of all types, even subjects in case/control studies. Candidate gene analysis 

involves an a priori hypothesis that a gene is involved due to either biology 

or position. Persons with the disorder of interest are compared to people 

without the disorder. Study subjects may be unrelated, or individuals from 

the same family. Genomic screening with linkage analysis involves studying 

many families that have multiple family members with NTDs. It can take 

26 The Future is Now
years to collect families and months to complete laboratory work. Previous 

work has identified several promising leads for further analysis. However, 

because of the complexities involved with this approach, candidate gene 

analysis is currently the most commonly used strategy for research examining the genetics of NTDs.

Clearly many genes are involved in NTDs. NTDs are so complex, however, 

that some genes may cause certain types of NTDs, but other genes cause 

other types of NTDs. For example, it is probable that different genes cause 

anencephaly while others cause myelomeningocele. Similarly, different 

genes may be involved in thoracic (upper) myelomeningocele, lumbosacral 

(lower) myelomeningocele; genetic mechanisms may be different for closed 

NTDs (lipomyelomeningocele) and open NTDs (myelomeningocele).

Summary

Public health approaches must continue to focus both on primary and 

secondary prevention of NTDs. While folic acid holds considerable promise, 

additional research is needed to determine whether there are other etiologic 

pathways to primary prevention as well as to determine how to optimize the 

effectiveness of health promotion strategies aimed at improving preconceptional folate levels through fortification, supplementation and diet. Research into secondary prevention strategies will require additional study of 

treatment, co-occurring conditions, and long-term outcomes, focusing not 

only on infancy and childhood but across the lifespan. Studies of the role 

of genetics in NTDs should expand to consider genetics within the broader 

milieux of epigenetics and epigenomics.

First World Congress on Spina Bifida Research and Care 27
28 The Future is Now
Transition

Where to from here? Transition to Adult Heath 

Care for Young People with Spina Bifida

S.M. Sawyer, MBBS, MD, FRACP

Centre for Adolescent Health, Royal Children’s Hospital

Department of Pediatrics

The University of Melbourne and Murdoch Children’s Research Institute

Melbourne, Australia

Email: susan.sawyer@rch.org.au

Introduction

The landscape of health and well-being for children with complex developmental disabilities such as Spina Bifida has dramatically changed over 

the past 50 years. Much of the knowledge and skills required to manage the 

challenging life and health issues facing children with Spina Bifida and their 

families has risen as a result of the critical mass that has accompanied the 

development of multidisciplinary clinics within specialist pediatric settings. 

When coupled with multiple technical advances in surgery, imaging, and 

pharmacology, the resultant reduction in mortality has been striking. In 

contrast to 50 years ago when over 90% of infants with Spina Bifida were not 

expected to survive childhood, the overwhelming majority of infants born 

in high-income countries can now expect to mature through adolescence to 

face the rigors of adult life [1].

What sort of future might this growing adolescent and young adult cohort 

face? Notwithstanding the impressive limitations in physical, cognitive, 

and emotional functioning that continue to be the hallmark of Spina Bifida, 

the challenge for families and health care professionals alike is to promote 

young peoples’ capacity to live fulfilled, meaningful lives. A wider challenge 

for the health care system is to ensure that as young people mature they are 

equipped to look after their health as independently as they can, and that 

appropriate health care services continue to be available to manage the increasing complexity of health problems they experience with age [2].

Adolescent Development

Adolescence refers to the critical period of development that lies between 

childhood and adulthood. The World Health Organization considers 

adolescence as the time between 10 and 19 years, and youth as that period 

First World Congress on Spina Bifida Research and Care 29
between 15 and 24 years. While the term young person is commonly used 

without any particular definition, it formally refers to the combination of 

terms that encompass the age from 10 to 24 years. More recently, the term 

adolescent and young adult (AYA) is increasingly used; in relationship to 

specialist health services, this can include young adults up to the late 20s or 

even early 30s. 

Adolescent development is commonly conceptualized around three developmental domains: physical, cognitive, and psychosocial. The physical 

changes of puberty have long been considered to mark the start of adolescence, while social milestones such as completing education, achieving 

financial independence, marriage, and parenting typically mark the end 

of adolescence and acceptance into adult life. Over the past 50 years, the 

changing social context of adolescence has resulted in an upward extension 

of the age at which many of these milestones have been achieved. This results in the ‘end’ of adolescence becoming less distinct. What is clear is that 

the onset of puberty in early adolescence signals a transition into greater 

health risk, whether from mental disorders (especially in girls [3]), from 

risky behaviors such as substance use and unsafe sexual behaviors, or from 

higher rates of participation in risky behaviors that increase the likelihood 

of accidents and injuries [4].

Recent developments in neuroimaging have provided a scientific explanation of those aspects of cognitive development that our grandparents and 

their grandparents have long recognized as typical of adolescence. It is now 

known that the brain continues to develop during adolescence with ‘pruning’ and myelination leading to more efficient processing and a greater 

capacity for executive functions (responsible for high level organization and 

planning skills) as well as emotional regulation [5,6]. These same processes 

are no doubt also responsible for the greater capacity of adolescents first, 

to imagine an ideal world (or body), and second, to more critically compare 

themselves with others as well as to this imagined ideal. 

Psychosocially, middle to late adolescence is a time during which healthy 

young people become more focused on educational achievement with eventual transitions to the work environment and financial independence. During this time, peer relationships become more critical to the ways in which 

young people view themselves. 

Adolescents with Spina Bifida

In addition to the usual developmental challenges faced by adolescents, 

young people with Spina Bifida face an additional set of challenges that 

relate to the presence of the developmental disorder and its associated comorbidities. For example, young people with Spina Bifida are more likely to 

30 The Future is Now
experience a disturbed trajectory through puberty; early onset (idiopathic 

precocious) puberty is far more common in girls with Spina Bifida than in 

girls without disabilities. While lack of physical dexterity can be challenging 

for menstrual management, broader repercussions relate to early puberty 

being a risk factor for poor mental health. A challenge for health professionals and families alike is not to assume that the various aspects of adolescent 

development occur synchronously. Thus, it cannot be assumed that the 

earlier physical maturity that accompanies precocious puberty is accompanied by equally mature cognitive and social functioning. Indeed, young 

people with Spina Bifida have been shown to be less socially engaged than 

their healthy peers [7]. This is likely to be related to the impact of motor 

disability on opportunities for recreational, sport, and other social relationships, as well as deficits of cognitive functioning, like non-verbal learning 

disability. These factors may also at least partially explain why young people 

with Spina Bifida and other childhood disabilities have over twice the rate of 

sexual abuse as children without disability [8].

Many aspects of Spina Bifida affect learning. The impact of cognitive deficits 

commonly becomes more pronounced in adolescence due to the greater 

importance of learning and independent problem solving expected at this 

time, and the more nuanced and sophisticated patterns of social interaction 

that occur [9]. In addition, youth with physical disabilities risk being treated 

by parents and by others as younger than their years because limitations in 

physical mobility and activities of daily living require greater parental support (e.g., managing continence). It is likely that lower social acceptance and 

lower romantic appeal in young people with Spina Bifida [10,11] is a reflection of many different factors including neurocognitive deficits, physical 

appearance, and disability, and a range of accompanying social challenges 

including social stigma. 

Studies of mental disorder suggest that young people with Spina Bifida are 

at greater risk of depressed mood and low self-worth [12]. Some studies 

paint a picture of young people with chronic illness and disability struggling 

to come to terms with “normal” adolescent development through reduced 

opportunities for ordinary social engagement (e.g., schooling, recreation, 

and intimate relationships) [7]. However, increased family conflict and less 

emotional engagement by adolescents with Spina Bifida with their parents 

may also simply reflect normal adolescent development. Beyond this, family 

responses are equally critical in terms of balancing an understandable desire 

to protect young people against the need for young people to learn by doing. 

One challenge for parents and health professionals is appreciating that what 

in early and mid adolescence might initially feel reassuring (for example, 

that their child is not yet sexually active) becomes more concerning by late 

adolescence and young adult life if it reflects poor social skills, limited opportunities for social engagement, and greater emotional dependence on 

First World Congress on Spina Bifida Research and Care 31
family. It is sobering to appreciate that, in general, young people with special 

health care needs have more rather than fewer health risk behaviors and 

mental disorders [13].

Quality Primary Health Care for Young People 

with Special Health Care Needs

Since 1967, the American Academy of Pediatrics has promulgated the notion 

of a “medical home” as a framework for providing quality primary health 

care to children, young people, and increasingly to adults with special 

health care needs [14]. Responding to decades of research showing substantial unmet health care needs in children and youth with special health care 

needs (CYSHCN) [15], the attributes of care provided through an ideal medical home are that it is accessible, family centered, continuous, comprehensive, coordinated, compassionate, and culturally effective [14]. Endorsement 

of this approach, which arguably is the same as quality primary health care, 

has come from the American Academy of Family Physicians, the American 

Academy of Pediatrics, the American College of Physicians, and the American Osteopathic Association, with support from the Maternal and Child 

Health Bureau (MCHB). 

The principles developed by the MCHB in support of the medical home that 

are most relevant to the care of young people with Spina Bifida are that:

 • F amilies of CYSHCN are partners in decision-making and are 

satisfied with the services they receive

 • CYSHCN receive ongoing comprehensive care within 

a medical home

 • F amilies of CYSHCN have adequate private and/or public 

insurance to pay for the services they need

 • Community-based services for CYSHCN are organised so 

families can use them easily

 • Youth with SHCN receive the necessary support to make transitions 

to all aspects of adult life including adult health care, work, and 

independence [16].

A systematic review of the attributes of a medical home suggests that CYSHCN experience better outcomes when receiving care that incorporates 

aspects of the medical home [15]. More specifically, children who can identify a medical home are about half as likely to experience delayed or forgone 

care and to have unmet health needs [17]. Within this framework, questions 

32 The Future is Now
of particular interest are how youth can be supported to make the required 

transition to adult health care, and what linkages are required to support 

access to appropriate specialist health care. 

Transition to Adult Health Care

Universally, multiple life transitions occur for young people in and around 

late adolescence and early adulthood. These include changes in social roles 

(e.g., greater expectations of independence, greater capacity for intimate relationships), changes in civic and legal roles (e.g., ability to vote, drive a car), 

and changes in economic roles (e.g., completion of education and training, 

expectations of financial independence). Just as important for young people 

with complex health conditions are the changes within the health care 

system that accompany the transfer from specialist child oriented to adult 

focused health care. 

As children mature into adolescence, their health care generally continues 

to be coordinated within the specialist child health system. As the life expectancy of young people with Spina Bifida has improved, so too has the need 

to develop specialist health services within the adult health care system. 

Internationally, adult specialist services are now well developed for various 

disorders such as cystic fibrosis that equally require multidisciplinary care; 

as with Spina Bifida, until the last few decades little demand for adult services had been seen due to patterns of childhood mortality. Models of adult 

health care have been much slower to develop for young people with developmental disabilities such as Spina Bifida, for whom the added complexities 

of more pronounced functional disability would render the need for comprehensive specialist health services even more critical. 

Making a successful transition to adult health care is increasingly recognized as an important health outcome for young people with chronic disease 

and disability. Regardless of where they are managed or by whom, the notion of transition to adult health care is one that embodies a change in place 

from pediatric to adult services and a change in orientation from family-centered to more individually focused services [18]. The American Academy of 

Pediatrics and the Society for Adolescent Medicine maintain that the goal of 

transitional care is to maximize lifelong functioning and potential through 

the provision of high quality, developmentally appropriate health care 

that continues uninterrupted as the individual moves from adolescence to 

adulthood [19,20]. This planned movement of adolescents and young adults 

with chronic conditions from child centered to adult orientated health care 

systems is distinct to the event of transfer, which simply refers to the physical move from pediatric to adult services [21].

First World Congress on Spina Bifida Research and Care 33
A set of principles has been developed by the Society for Adolescent 

Medicine in support of transition to adult health care [20]. 

In summary, these are that:

 • Health care services need to be age and developmentally appropriate

 • Health care services need to be able to address the common concerns 

of young people, including growth and development, sexuality, mood, 

and other mental health disorders, substance use, and other behaviors

 • Successful transition to adult health care will help increase personal 

responsibility and facilitate self-reliance

 •T ransfer of health care should be individualized to meet the specific 

needs of young people and their families

 • A designated individual must be responsible for coordinating and 

streamlining transition to adult health care

More specifically, this consensus statement identified six critical first steps 

to ensure successful transition to adult health care [20]. These were:

 • Assurance that all young people with specific health care needs have 

a designated health care professional who takes specific responsibility 

for transition in the broader context of care coordination and health 

care planning

 • Identification of the core competencies required by health care 

providers to render developmentally appropriate care and health 

care transition, and assurance that these are taught to primary health 

care providers and are an integral component of their certification 

requirements

 • Dev elopment of a portable, accessible medical summary to facilitate 

the smooth collaboration and transfer of care among and between 

health care professionals

 • Dev elopment of up-to-date detailed written transition plans, in 

collaboration with young people and their families

 • Assur ance that the same standards for primary and preventive health 

care are applied to young people with chronic conditions as to their 

healthy peers

 • Assurance that affordable, comprehensive, and continuous health 

insurance is available to young people with chronic conditions 

throughout adolescence and into adulthood

34 The Future is Now
Models of Young Adult Health Care

Broadly, four models of health care for young adults with Spina Bifida are 

currently being used. The first model is for young people simply to remain 

within the specialist pediatric health care system, continuing to be managed by various child health specialists into their adult years. The experience 

from other conditions is that when more typically “adult” complications 

such as pregnancy or drug addiction arise, pediatricians risk precipitously 

transferring young people to specific adult services (e.g., obstetric or drug 

and alcohol services) without putting in place an approach for more comprehensive and coordinated care. While some may view continuing access 

to pediatric services as the only reasonable response to the absence of more 

appropriately specialized services for young adults, this “propping up” of 

adult specialist services equally risks downplaying the extent of demand for 

comprehensive, coordinated adult services. Furthermore, while this model 

may be manageable for medical professionals who consult privately with 

young adults, the intersection of increasing survival of young adults with 

the upper age policies of children’s hospitals will at some stage render this 

model unsustainable. 

The second model is to transfer young people to an adult specialist service. 

This may be a specialty Spina Bifida service or, more commonly, an adult 

developmental disability or rehabilitation service. Within these services 

rehabilitation specialists such as physiatrists, rather than pediatricians or 

pediatric surgeons, are more likely to take the clinical lead. The key features 

of this approach are that (a) a critical mass of patients exists to ensure the 

acquisition of specialist skills, (b) access to allied health as well as medical 

care is available, and (c) care coordination occurs. Typically, transfer to adult 

health care is deemed most appropriate once secondary education has been 

completed [22]. The major challenge with this model in many parts of the 

world is a lack of capacity. Many adult hospitals and specialists lack interest 

in developing an appropriate clinical response to the complex health care 

needs of these young people. This commonly reflects limitations imposed 

by models of health care funding and health insurance, as well as a lack of 

training for adult health providers about chronic conditions of childhood 

onset and about adolescent health. 

The third model is to transfer young people at an earlier age (commonly 15-

17 years) to a young adult service, which may be based within either a pediatric or an adult program. This is effectively the same approach as model two 

but without the expectation of ongoing care beyond young adulthood, at 

which time transfer to an adult services (model 2) or primary care (model 4) 

is still required. In comparison to models 1 or 2, the goals of young adult services (which have most commonly been developed to support young people 

with diabetes and cancer) are more explicitly about facilitating healthy adoFirst World Congress on Spina Bifida Research and Care 35
lescent development and managing complex medical issues. This is equally 

critical for young people with Spina Bifida and their families.

The fourth model is to transfer young people to primary care, with the 

primary care physician responsible for care coordination and linkage to 

specialist health care and allied health care. While each of the first three 

models implicitly includes the primary care provider as a member of the 

multidisciplinary team, the key difference in this model is that the primary 

care provider is the clinical lead and care coordinator. A challenge for this 

model is whether the primary care provider has sufficient time and capacity to undertake these roles. A further challenge for the system is whether a 

sufficient critical mass can be developed for any member of the adult “team” 

to gain the necessary understanding of the many different impacts of Spina 

Bifida, whether this is the primary care provider or any of the other medical, 

surgical or allied health specialists within the adult health care sector. 

Almost no evidence is available to support one model over another. What 

is clear is that many of the acute and chronic health issues affecting young 

adults with Spina Bifida are at least to some extent preventable [23], and 

that lifelong coordinated care is strongly recommended. In this context, 

it is highly concerning that in one study, 76% of adults with chronic and 

complex disabilities of childhood did not have a primary care provider [24]. 

Equally concerning is that admission rates were nine times higher than in 

the general population in one study, [24] with medical expenditures for 

youth with Spina Bifida estimated to be 13 times higher than for healthy 

youth [25]. Data like these no doubt raise immediate concerns for health 

care funders about the cost of managing this cohort. However, that nearly 

half of all hospital admissions for this lifelong complex condition are potentially preventable [23] and that the cessation of a multidisciplinary clinic 

resulted in significantly worse (and more expensive) health outcomes [26], 

suggests the value of health economic modeling in determining the benefits 

as well as costs of comprehensive multidisciplinary health care for adults 

with complex and expensive conditions. 

Equally critical is the need for health care professionals to think developmentally and to anticipate future health care needs. Disappointingly, in a 

population-based study of parents of 5,533 adolescents with special health 

care needs, only 50% reported their child’s doctor had talked about changing needs in adulthood, and only 21% had ever discussed transferring their 

child’s care to an adult provider in time [27]. Whatever future model of care 

is available, early and repeated discussions with the young person and family are required to build their support and increase both the young person’s 

and the family’s capacity to move forward with confidence into the adult 

health care sector. A stronger focus on supporting young people and families 

to acquire self-management skills that would enable them to function more 

36 The Future is Now
independently as they mature is required. Programs that help young people 

with chronic conditions learn from each other, whether by participating in 

peer support groups, through social networking sites, or through recreational activities such as camps, are but some of the ways of achieving this. 

Measuring Health and Life Outcomes

As with other complex conditions, the nature of Spina Bifida and its impact 

on the individual and family change with age and development. A recent literature review of the health care needs of adults with Spina Bifida highlights 

the incredible range of health concerns, including both disease specific (e.g., 

neurological, bladder and bowel functioning, mobility and musculoskeletal 

function, sexual functioning) as well as generic (e.g., obesity, mental disorder, skin care, pain) [2]. Whether in relationship to the general principles 

supporting children and youth with special health care needs, the more 

specific principles supporting transition to adult health care, or the models 

of healthcare for young people with complex conditions, a broader requirement is the development of a framework for monitoring and evaluating 

both health and life outcomes for people with Spina Bifida. In the United 

States, the recent development by the Spina Bifida Association of a Spina 

Bifida Database Registry is a very positive step towards supporting a research 

and evaluation framework.

Currently, a distinct risk exists for young people with complex health and 

developmental needs that maturation beyond the purview of specialist pediatric services will result in reduced access to developmentally appropriate, 

quality health care. To date, determined individuals who appreciated the 

lack of access to future adult health care for their patients and who developed good relationships between themselves and adult colleagues have been 

largely responsible for the success of most services for adults with developmental disability around the world. However, the complexity of contemporary health care for young people with Spina Bifida means that more systematic approaches to the development of adult services and to approaches for 

supporting the necessary linkages between pediatric and adult services are 

required. Many children’s hospitals and rehabilitation programs would benefit from hospital-wide transition policies to support these tasks. Many parts 

of the world would equally benefit from regional health planning that would 

help identify or prioritize the development of developmentally appropriate, 

accessible, quality health care for young adult with complex disabilities. 

A further risk is that the absence of the critical mass that would result from 

the development of specialist adult services leads to a failure to invest in a 

research framework for adults with Spina Bifida. Among other things, one 

might expect that with time, we would have a better understanding of the 

changing health care needs with age and what models of care might work 

First World Congress on Spina Bifida Research and Care 37
best to support the ongoing health care needs of this complex population as 

they mature. Investment in a training agenda for those who work with adolescents and young adults also is required, whether in the pediatric or adult 

health care settings. 

Failure to invest in systematic approaches to monitoring health outcomes, 

in research, and in clinical training would sadly mean that by the year 2020, 

we may have no better understanding of how to improve the health and 

well-being of adults with Spina Bifida than we do today. The health care 

needs of young people with Spina Bifida do not lessen with age. If anything, 

the reverse is the case. Investment in more systematic approaches to clinical 

service development, research and training are required in order to improve 

both the health and life outcomes of these young people. 

References

 1. McLone DG. Commentary. J Pediatr Rehabilitation Medicine: An Interdisciplinary Approach. 2008;1:283-284.

 2. Dicianno BE, Kurowski BG, Yang JMJ, Chancellor MB, Bejjani GK, 

Fairmann AD, Lewis N, Sotirake J. Rehabilitation and medical 

management of the adult with Spina Bifida. Am J Phys Med Rehab 

2008;87:1026-1050.

 3. P atton GC. Olsson C. Bond L. Toumbourou JW. Carlin JB. Hemphill SA. Catalano RF. Predicting female depression across puberty: a 

two-nation longitudinal study. J Am Acad Child Adolesc Psych 2008; 

47(12): 1424-32. 

 4. Patton GC. Viner R. Pubertal transitions in health. Lancet 2007; 

369(9567):1130-9. 

 5. Luna B, Thulborn KR, Munoz DP et al. Maturation of Widely Distributed Brain Function Subserves Cognitive Development. Neuroimage 

2001;13:786-793. 

 6. Gogtay N, Giedd JN, Lusk L, et al. Dynamic mapping of human cortical development during childhood through early adulthood. Proc. 

Natl Acad. Sci. USA 2004;101: 8174-8179.

 7. Boudos RM, Mukherjee S. Barriers to community participation: teens 

and young adults with Spina Bifida. J Pediatr Rehab Med: An Interdisciplinary Approach. 2008;1:303-310. 

 8. M urphy N and Elias E for the Council on Children with Disabilities, 

Sexuality of Children and Adolescents with Developmental Disabilities. Pediatr 2006;118:398-403.

38 The Future is Now


Meeting of the Section on Transition

Transitioning from Pediatric to Adult Medicine for Adolescents and Young 

Adults with Spina Bifida: Research and Programmatic Developments

Introduction

Since the 1970’s, survival in Spina Bifida has steadily increased; currently 

over 85% of children with neural tube defects are expected to reach adulthood. With longevity comes the need for adult-oriented services and preparation for the transfer of care out of pediatrics. The Spina Bifida Association 

and affiliated multi-specialty clinics have been addressing these issues for 

the last decade. At the First World Congress on Spina Bifida in March 2009, 

researchers and practitioners presented twenty-five abstracts on adolescentto-adult transition from the United States, Canada, Australia, and the 

Netherlands. 

The abstracts were divided into two main categories: 1) research, and 2) 

programmatic development. Several research abstracts examined the relationships between the medical, cognitive, academic, executive functioning, 

and psychosocial characteristics of adolescents and young adults (AYA) 

with Spina Bifida and their self-management abilities, community living 

skills, and health-related quality of life (HRQOL). Other research examined 

barriers and facilitators to participation in social, community, and physical 

activity and how participation impacted HRQOL. The process of transition 

in certain multi-specialty programs was studied, examining patient/family 

satisfaction and how well the process is documented in the medical record. 

Finally, research was presented that evaluated the average timeline for transfer of self-management responsibility from parent to AYA. 

Programmatic abstracts described pilot projects in lifespan training curriculums, adolescent transition services, adult multi-specialty clinics, 

camp-based training programs, and a teleconference mentoring program. 

Other presentations described assessment tools for transition programs and 

Internet-based care coordination and educational resources for healthcare 

providers, families, and AYA self-advocates. 

Transition Research

Most of the research presented was from regional, convenience samples of 

fewer than 100 subjects; however, several multi-site studies were presented, 

which included subjects attending one of several multi-specialty Spina Bifida programs. Two national studies were presented: one from a self-selected 

sample of conference attendees, and one randomly-selected, nationally repFirst World Congress on Spina Bifida Research and Care 41
resentative population. Most of the research included validated measures 

and the majority utilized the constructs of activity and participation from 

the World Health Organization International Classification of Function. 

One measure under development, the Adolescent Self-Management Independence Survey - version II (AMIS-II), was used in several of the transition 

research studies. The development of this instrument has been presented 

at previous conferences and the current abstract evaluated the measure’s 

psychometric properties using a sample of 135 parent-child dyads from four 

Spina Bifida clinics. The age range of the participants was 12 to 25 years. The 

17-question AMIS-II demonstrates construct validity and reliability. The 

instrument has two factors: 1) Self-management: Independent Living, and 

2) Self-management: Condition. The tool is administered by interview and 

measures the amount of independence across multiple domains, including 

personal care skills such as toileting and taking medications, and independent (community) living skills such as making and keeping appointments 

and refilling prescriptions. The AMIS-II was offered as a reliable tool to assess clinically relevant self-management skills in AYA with Spina Bifida [1]. 

Using validated instruments including the AMIS-II, a study of a convenience 

sample of 26 young adults and 13 parents attending a transition program 

in Wisconsin found most of the young adults (ages 18 to 35 years (mean 23 

years)), needed supervision with managing their personal health needs and 

with independent (community) living skills. The greatest needs were in the 

areas of finances, vocational rehabilitation, health care, independence, and 

socialization [2]. 

Also using the AMIS-II, a convenience sample of 61 young adults was evaluated for the association between self-management skills and psychosocial 

functioning and health outcomes. Overall the young adults had greater 

independence of self-care skills directly related to their daily Spina Bifida 

needs than overall independent (community) living skills. Higher self-management skills were associated with community living outcomes, but not 

with being employed or having a higher quality of life. No association was 

found between higher self-management skills and health outcomes, such 

as having pressure sores, urinary tract infections, hospitalizations, or continence [3].

Cognitive ability and executive functioning were compared to independent 

living skills in a sample of young adults in Chicago. Scores on standardized 

scales of functional academic skills, cognition, and academic achievement 

were more likely to be significantly associated with money management, 

transportation independence, health and safety abilities, and memory than 

with parental report of the adolescents’ independence skills. The number of 

shunt revisions was not associated with any of the outcomes [4].

42 The Future is Now
Self-management ability, depression, and quality of life were compared to 

mobility status in a multi-site study of 61 young adults with Spina Bifida. 

Mobility status (full-time wheelchair, part-time wheelchair, ambulatory) 

was not associated with QOL or depression. Trends were found towards 

lower self-management scores and greater need for assistance for full-time 

wheelchair users compared to those with some ambulation [5].

The overall findings in these studies indicate an ongoing need for assistance 

with self-management skills into young adulthood particularly for community living skills. Physical factors such as shunt revisions and mobility 

status do not appear to impact self-management skills, but intellectual and 

executive function may affect independent living skills. Self-reported quality 

of life does not appear to be affected by self-management skills or mobility 

status. 

The timeline for transfer of self-management responsibility was examined 

in two abstracts. A concordance study about who is responsible for medical 

tasks conducted with a convenience sample of adolescents and their mothers in Chicago revealed that transfer of responsibility generally begins at 12 

to 13 years with significant increases in the adolescent taking charge at 16 

to 19 years of age [6]. A survey of a convenience sample of 62 parents and 41 

young adults measuring the time of transfer of responsibility for medical 

care revealed the majority of care is shared between adolescent and parent between 12 and 17 years of age; 2/3 transfer care during the young adult 

years. While most personal care management transferred to the young adult 

after age 18 years, medication management and appointments tended to 

stay with the parent. Nutrition and bowel management were more likely to 

remain shared with the parent by young adult [7].

The process of transition was evaluated in two abstracts. In a descriptive 

cohort study of a pilot transition program in Wisconsin 21 young adults and 

12 parents were interviewed using a qualitative telephone questionnaire 

two weeks after their initial transition visit. Over 80% responded that the 

process, which included a pre-transition visit with the nurse, a tour of the 

adult health facility, and a transition visit with the physiatrist and urologist, 

was “better than expected” and was reassuring. Persistent concerns included 

access to neurosurgical consultation and the need for non-medical transition services [8].

A retrospective chart review of one Spina Bifida clinic evaluated the extent 

to which transition plans were documented in the patients’ medical records. 

Plans related to education, employment, and recreational activities were 

documented in more than 70% of the charts. Bowel continence and activities of daily living were documented in greater than 50% of the records. Less 

than half of the charts, however, had transition plans for social relationFirst World Congress on Spina Bifida Research and Care 43
ships, health care, living arrangements, and urinary continence [9]. These 

studies indicate that a planned process that includes anticipatory guidance 

and coordinated visits alleviates patient and parental anxiety, but that more 

work is needed to help facilitate transition to adult community living.

Community participation, including post-secondary school education, employment, and transportation-independence were examined in several abstracts. A retrospective chart review of a Spina Bifida clinic in Ohio revealed 

that 45% of adolescents remain in high school past the age of 18 years. Sixty 

percent of 22+ year olds are still not working or attending any kind of training program despite 82% receiving vocational-educational rehabilitation 

services. Over 70% of these adults are receiving supplemental security (SSI) 

or disability income and over 60% have public health insurance. The majority of adults were not driving, which was associated with hydrocephalus 

status but not lesion level [10].

Barriers to community participation were studied in 101 adolescents and 

young adults in Chicago. Initially only 30% of the subjects participated in 

community activities at least weekly. After an intervention by a transitioncoordinator a 17% increase occurred in those who participated in weekly 

activities, with the greatest impact on the 15 to 17 year age group. Subjects 

over 21 years who were not in school, not working, and initially had no 

community activities were least likely to increase their participation. Overall, two-thirds of the adolescents maintained their participation for 6 to 12 

months. The most frequently reported barriers were language (non-English 

speaking) and the lack of motivation, information, and transportation [11].

Physical activity participation was examined in 51 adolescents and young 

adults in the Netherlands and compared to fitness, body fat percent, cardiovascular disease risk factors, social roles, social support, and health-related 

quality of life. Physical activity and fitness had positive effects on participating in daily activities and physical HRQOL but not body fat percent or 

mental HRQOL. Participation in sports activities did not depend on ambulatory status but was associated with greater perceived athletic competence, 

physical appearance, and family social support [12].

Based on the classification system and domains of the World Health Organization (WHO) International Classification of Function (ICF), a nationally 

representative sample of 129 youth with Spina Bifida were studied for barriers and facilitating factors for community participation. As an example, 

communication problems, taking medications, and upper extremity problems were significant barriers to social participation with friends. This study 

is a rare example of a randomly selected, national sample of individuals with 

Spina Bifida, which can provide needed insight about those individuals who 

are not followed by multi-specialty clinics or attending national conferences 

[13].

44 The Future is Now
Overall, participation and independence in the adult group was low, but 

could be facilitated by an adult transition coordinator. Barriers included 

physical and medical constraints, but lack of motivation was a significant 

variable. More research into identifying barriers to community participation 

and effective interventions is needed. 

Transition Programs

Several pilot programs to facilitate self-management skills, physical activity and community participation, and transfer of care to adult services were 

described. Multiple modalities including a lifespan approach, camp training 

programs, teleconferencing, and internet-based tools have been tried.

A program from the Spina Bifida Association in Cincinnati uses an “effective 

mentoring model” via nine weekly one-hour teleconferences with 10 to 12 

participants. A syllabus that addresses self-care topics and negotiating the 

health care system has been developed, and includes guest moderators with 

expertise in Spina Bifida. The program has served 99 older adolescents and 

young adults of diverse backgrounds, but with an emphasis on those who 

are geographically isolated or financially challenged [14].

The Shriners Hospital in Chicago presented their first SPINABILITY Camp, 

which is designed for participants at least 13 years of age with independent 

transfer and bowel and bladder self-care abilities. The camp lasts one week 

and is staffed by an interdisciplinary team that utilizes a “challenge by 

choice” philosophy, meaning that campers participate at the level of their 

choice for each sports-oriented physical activity. The inaugural camp was 

well received and will be repeated [15]. 

Several presentations outlined the successes and challenges of regional 

transition programs, including those in Alabama, Illinois, Wisconsin, and 

Ontario, Canada. Important features of these programs believed to facilitate 

successful transition include a lifespan approach with specific training and 

mentorship for the child/adolescent; collaboration among pediatric and 

adult healthcare providers; family education and support; and dedicated 

transition coordinators to set developmentally appropriate goals, and to 

manage scheduling, transportation, as well as the transfer of health information from one team to the other. These pilot programs identified gynecology, family planning, bowel continence programs, adult surgical specialists, 

and quality health insurance as the greatest needs for an adult Spina Bifida 

clinic [16-19].

Gillette Lifetime Specialty Healthcare summarized five years of experiences 

with their adolescent and adult clinic, which uses an interdisciplinary team 

of urological, rehabilitation, and neurosurgical specialists to address the cognitive, socio-emotional and physical needs of their patients. The ages of their 

First World Congress on Spina Bifida Research and Care 45
clientele range from 16 to 74 years, with equal participation of males and 

females. They reported high patient satisfaction based on customer satisfaction surveys. Parents and youth prioritized different areas. Teens chose Medical and Jobs as first priorities and parents chose Insurance and Medical [20].

A state government funded program from New South Wales, Australia 

utilizes a case management system to help young adults negotiate the more 

complex adult health care system. A Clinical Nurse Consultant and an Occupational Therapist who coordinate transitions from the three pediatric 

multidisciplinary Spina Bifida clinics to the two adult Spina Bifida clinics or 

to regional adult rehabilitation service providers staff the Adult Outreach 

Service. The transition service has facilitated regular attendance at the adult 

Spina Bifida clinic, decreased hospitalizations for pressure sores, reduced the 

incidence of renal impairment, and increased community participation [21]. 

Several transition tools are being developed. The Center for Disease Control 

and Prevention is developing a Preparation for Adult Participation logic 

model based on the principals of the World Health Organization International Classification of Function and using input from Spina Bifida experts 

and consumers. The transition pathway has three domains: 1) Self-management/Health, 2) Personal and Social Relationships, and 3) Employment/

Income Support. A web-based Transition Preparation Checklist will list key 

developmental milestones in each of these domains and offer patient educational materials and assessment tools [22].

Another assessment tool, Assessment of Spina Bifida Care for Adolescents 

and Youth, was piloted by six Spina Bifida clinics in New York, New Hampshire, North Carolina, Ohio, and Pennsylvania. This health-care team selfassessment tool is adapted from a validated quality improvement measure 

from the Institute for Healthcare Improvement and is based on the Chronic 

Illness Care Model. Completed by medical directors, nurse coordinators, allied health professionals, and surgical sub-specialists, this pilot study found 

no significant differences in ratings across centers or provider types. The 

mean overall grade for the five centers was a “C” [23].

 An Internet-based, interactive care coordination tool, which includes 

a video-format curriculum, has been piloted by SUNY Upstate Medical 

University. The content of this website, www.HealthyTransitionsNY.org, is 

adapted from the University of Washington Adolescent Health Transition 

Project; the curriculum was prioritized by consumer focus groups. Several 

ADA-accessible formats are available, which can be used for self-study or by 

using a moderator guide. The website includes a transition readiness checklist, goal setting guides, a search engine, health care guidelines, a transition 

medical history form, and an interactive video that demonstrates health 

care encounters [24].

46 The Future is Now
Overall, the transition presentations highlighted common issues across all 

Spina Bifida providers. Interestingly, challenges in access to adult providers were similar regardless of the health care system. Young adults are still 

dependent on parents for management of their medical condition, particularly for administrative tasks such as appointments, finances, and medication refills. Community participation remains low but can be facilitated by 

a transition coordinator. Multiple tools are being developed to help with the 

assessment, coordination, and patient/family education during the transition process. More research is needed in understanding how to maximize development of self-management independence and community participation. 

References

 1. Sawin K, Buran C, Brei T, Cashin S, Webb, T, Heffelfinger A. Psychometric evaluation of the Adolescent self-Management Independence 

Scale (AMIS II).

 2. W aring W. Transition goals, self-management competencies, and 

needs in adolescents and youn adults (AYA) with Spina Bifida (SB) 

participating in a transition program.

 3. Zabel A, Bellin M, DiCianno B, Levey E, Dosa N, Braun P, Baker K. 

Self-management, psychosocial functioning, and health outcomes in 

transition-age individuals with Spina Bifida.

 4. Devine K, Zebracki K, Holmbeck G, McLone D. Relations among cognitive, academic, executive function, and independent living skills in 

young adults with Spina Bifida preparing to live independently.

 5. DiCianno B, Bellin M, Zabel A, Levey E. Spina Bifida and mobility in 

the transition years.

 6. Devine K, Wasserman R, Gershenson L, Holmbeck G. Timeline for 

transfer of responsibility of medical tasks during adolescence: a longitudinal investigation.

 7. Holmbeck G, Bellin M, Braun P, Danielson M, Devine K, Hart A. The 

transfer of medical care responsibility from parent to child during 

the transition to adulthood.

 8. Sa win K, Waring W, Rauen K, Orr M, O’Connor R. The experience 

of transition to adult health care for adolescents and young adults 

(AYAs) with Spina Bifida.

 9. Peterson P, Brustrom J, Thompson J, Thibadeau J. Documentation of 

transition plans for Primary Children’s Medical Center, Spina Bifida 

program: CDC/Battelle Spina Bifida transition project.

First World Congress on Spina Bifida Research and Care 47

Nursing and Allied Health

Nursing and Allied Health Response 

to Families Living with Spina Bifida: 

Past, Present, and Future

Robin R. Leger, RN, PhD

Assistant Professor, Community Medicine

New England Musculoskeletal Institute

University of Connecticut Health Center

Email: rleger@uchc.edu

Introduction

This keynote address is delivered worldwide to nurses and allied health 

(AH) care professionals (physical therapists, occupational therapists, 

certified orthotists, social workers, recreational therapists, child life 

specialists, school health teams, and others) committed to a lifespan 

approach to improving the health-related quality of life of individuals living 

with Spina Bifida. 

We have been called ... “Nurse, Sister/Brother, Doctor, Therapist, Auntie/

Uncle, Teacher, and Friend” in a multitude of languages. I think of all the 

journeys we have had with our patients and families, and share this as a 

colleague on the state of the art and science of the care provided today. I 

was brought up with a child with cerebral palsy and readily knew disability, 

braces, wheelchairs, etc. as a normal part of day to day life and “culture.” I 

started working with families with Spina Bifida in 1977 on the neurology/

neurosurgery unit at Boston Children’s Hospital. In 1981, with nursing colleagues, I formed the North Eastern Myelodysplasia Association (NEMA). 

Over the years, the highlight of my career has been collaborating with colleagues across the USA; visiting Dr. Menelaus at the Spina Bifida Clinic at 

the Royal Children’s Hospital in Australia in 1982; and more recently visiting 

others at programs in Italy, Chile, and India. 

Nurses/AH who demonstrate a commitment to Spina Bifida care have an 

ability to grasp the complexity of this multisystem, and potentially progressive, disabling condition and facilitate or develop interventions that 

have both practical and long term effects that support patients across care 

environments. In short, they combine critical thinking with a passion for 

making a difference in the lives of their patients. While recently re-reading 

Mohandas K. Gandhi’s autobiography [1], I found that the following quotes 

resonated with both a feeling of familiarity and a regard for the spirit of the 

First World Congress on Spina Bifida Research and Care 49
nurses/AH world-wide who care for people living with Spina Bifida: “. . . like 

loyalty, an aptitude for nursing was also deeply rooted in my nature. I was 

fond of nursing people, whether friends or strangers [p.173]. My aptitude for 

nursing gradually developed into a passion. ...Such service has no meaning 

unless one takes pleasure in it. ... But all other pleasures and passions pale 

into nothingness before service which is rendered in a spirit of joy [p. 175].”

Past, Present, and Future 

A historical context of disability, genetics and chronic illness is beneficial 

in understanding the complexity of providing care and impacting policy for 

families affected by Spina Bifida. A recent monograph, Genetics and Ethics 

in Health Care [2], is relevant to the issues of survival (morbidity and mortality), stigma, access to health care and social policy issues faced by families 

living with Spina Bifida. The following highlights a few critical documents 

and cases [3]: 

 • In the 1700s, Diderot edited a lexicon of congenital anomalies, titling 

the section “Monstre” or monstrosities in a supplement to Encyclopedie (France). 

 • In 1971 Lorber’s selection criteria to decide whether or not newborns 

with Spina Bifida are treated became controversial (England) [4]

 • In 1983 “Baby Jane Doe” a neonate with Spina Bifida and hydrocephalus prompted further dialog and new regulations under Section 504 of 

the Rehabilitation Act forbidding discrimination based on handicap 

related for federal funds (USA) 

 • Recent documents addressed the scarcity of resources for individuals 

living with Spina Bifida in African and impoverished nations [5, 6] 

 • Currently in the USA and worldwide adults living with Spina Bifida 

are struggling to access health services and care coordination; many 

are failing to find providers interested and knowledgeable about their 

health care needs 

 • The 2008 signing of the Genetics Information Non-discrimination 

Act (GINA) should further reduce discrimination of health insurance 

coverage for individuals with disabilities (USA)

50 The Future is Now
Although policies are changing, preventing disparities in health care across 

settings and the impact of stigmatization remain challenges for patients, the 

chronic health care needs and potential risks for secondary conditions in 

Spina Bifida [7-10] require additional diligence in supporting:

 • A multidisciplinary, comprehensive team approach to care 

 • Continuity of services over time and episodes of care and care 

coordination [11]

 • Family centered social support [2, 12-16]

 • Transition services and transfer of care across the lifespan and from 

pediatric specialty programs and/or medical homes to adult providers 

and/or medical homes (this may take two or more years to accomplish 

in an individual) [17-24]

 • Utilization of other chronic illness management models such as the 

Wagner Chronic Condition Model [25], and adaptation to the lifespan 

healthcare needs in Spina Bifida to challenge the disparities in health 

dollars and services

 • Research, collaboration, evidence-based practice, guidelines, and dissemination [3, 20, 24, 26-29]

The Art and Science of Spina Bifida Care

The profession of nursing is described as both an art and science and includes a vast number of roles and practice domains that are needed in a 

lifespan approach in the care of individuals living with Spina Bifida and to 

meet the needs of their families and communities. Beyond language and 

cultures, roles include: bedside/hospital based nursing; counseling/support; outpatient care; care coordination and triage; advocacy; education 

and mentoring; school health [18]; public health; consultation; collaboration; research; policy development; program development and evaluation; 

and publication and dissemination of evidence. Nurses and therapists are 

critical in the ongoing assessments and education for family members in the 

habilitative techniques of: positioning, donning and doffing of bracing/orthotics and adaptive equipment, skin care, mobility and functional skills in 

the home and community, and skills and activities needed for recreational, 

social, vocational and sexual health [30, 31]. 

First World Congress on Spina Bifida Research and Care 51
Select clinical competencies and domains of practice of nurse/AH clinicians 

working in Spina Bifida include

 • Maintaining and providing safety (emergency management and prevention) and comfort–the #1 priority!

 • Providing education on folic acid and strategies for optimizing daily intake for both females and males [32] of reproductive age across health 

and community environments

 • Preventing secondary conditions [8, 9] while promoting health [33-35]

 • Optimizing growth and development while minimizing the impact 

of disability

 • Addressing neurological/neurosurgical issues, including hydrocephalus and signs of shunt malfunctions, seizures, tethered cord syndrome, 

and Chiari symptoms [36]

 • Addressing orthopedic and mobility issues [37, 38]

 • Addressing habilitation and rehabilitation [39-44]

 • Managing bowel and bladder function to promote continence and 

hygiene; maintain renal and gastrointestinal health; promote skin care, 

nutrition; and prevent obesity [45-50]. 

 • Continuing research into and preventing latex allergy. Latex allergy 

research and precautions were spearheaded by nurses working with 

Spina Bifida clinics and changed practice worldwide [26, 27, 51-59]

 • Promoting health-related quality of life (HRQOL) in Spina Bifida 

[9, 60. 61]. 

An Invitation to Participate in Global Strategies

In this time of electronic highways and rapid communication we need to 

take advantage of our ability to develop partnerships and collaborate on 

research and policy development with people around the world. It is important to form these partnerships with community-based organizations, the 

individuals living with Spina Bifida and their families and to adopt community-based participatory research methods as a principal and methodology 

[10, 62]. We can develop the leverage to change policy, decrease disparities in 

health services and diminish gaps in care and research. 

You are invited to share your best stories and exemplars of care; best practice scenarios and guidelines; case examples and successful strategies at 

advocating or policy formation. Invite others to visit your program, travel, 

52 The Future is Now
give grand rounds, consult, share your knowledge and be political (in the 

best sense of the word). Inspire and mentor the young professionals in your 

environment or the students you encounter, and support one another! Work 

to improve opportunities for all individuals with Spina Bifida; promote 

inclusive environments of acceptance and value, free of discrimination and 

stigma; facilitate and ensure the development of access to services and care 

coordination; protect those at risk for neglect or abuse; and know your value 

when discouraged. 

We need to continue to “think outside the box” or re-visit programs that 

were effective but have fallen by the wayside. For example, many of our 

patients deserve to have a comprehensive rehabilitation program to gain independence skills similar to individuals with an acute/traumatic spinal cord 

injury. This could be accomplished at a camp, rehabilitation program, or in 

hospital for a week during their elementary school years and again in their 

teen years to further refine skills. Yet insurance coverage and systems of care 

have provided this in only a few rare cases. 

Nurses/AH are often the architects and the bricks that build bridges to 

schools, communities, public health agencies, home health, employee 

health, recreational and sports opportunities, and if necessary palliative and 

hospice care. The nurse coordinator roles in Spina Bifida have been drastically reduced by health care redesign and by efforts to reduce costs. Many 

of us (nurses and allied health care professionals) have lost our positions 

or are required to take on other patient populations or roles that reduce 

our time and roles with patients who have Spina Bifida. At this First World 

Congress Meeting on Spina Bifida Care and Research let us renew our commitment, and support one another. You are welcome to join in and read the 

following [63]. 

The Nightingale Declaration for Our Healthy World

We, the Nurses [Allied Health Professionals] and concerned citizens of the 

global community, hereby dedicate ourselves to the accomplishment of a 

healthy world by the year 2020.

We declare our willingness to unite in a program of action, sharing information and solutions to resolve problems and improve conditions -- locally, 

nationally and globally -- in order to achieve health for all humanity.

We further resolve to adopt personal practices and to implement public 

policies in our communities and nations, making this goal for the year 2020 

achievable and inevitable, beginning today in our own lives, in the life of our 

nations and in the world at large.

First World Congress on Spina Bifida Research and Care 53
References

 1. Gandhi MK. Gandhi, an autobiography: The story of my experiments 

with the truth. 2nd ed. Ahmadabad: Navajvan Publishing House; 1957.

 2. M onson RB. Mothers’ experiences of living worried when parenting 

children with Spina Bifida. Journal of Pediatric Nursing. 1999;14:57-63. 

 3. L eger RR. Parental request for advanced directives: Decision making 

in evolving environments. In R. B. Monsen editors. Genetics and Ethics in Health Care. Silver Springs, MD: American Nurses Association; 

2009.

 4. L orber J. Results of treatment of myelomenigocele: An analysis of 524 

unselected cases, with special reference to possible selection for treatment. Developmental and Child Neurology. 1971;13:279-303. 

 5. Miles M. Children with hydrocephalus and Spina Bifida in East Africa: 

Can family and community resources improve the odds? Disability, 

Society. 2002;17:643-58.

 6. Miles M. Social responses to disability, poverty in economically weaker countries: Research, trends, critique, and lessons usually not learnt. 

[Internet]. Annotated bibliography of modern and historical material. 

2006 [cited July 23, 2009]. Available from: http://www.independentliving.org/docs7/miles200603.html.

 7. Kaufman BA, Terbrock A, Winters N, Ito J, Klosterman A,, Parks TS. 

Disbanding a multi disciplinary clinic: Effects on the health care of 

myelomeningocele patients. Pediatric Neurosurgery. 1994;21:36-44.

 8. L ollar DJ. Preventing secondary conditions associated with Spina 

Bifida or cerebral palsy. Washington, DC: Spina Bifida Association of 

America. 1994.

 9. Leger RR. Severity of illness, functional status, and HRQOL in youth 

with Spina Bifida. Rehabilitation Nursing. 2005;30:180-87.

 10. L eger RR, Wagner L., Odesina, V. Evidenced-based practice with 

community participation: Select experiences with patients with 

Spina Bifida and sickle cell disease. [Internet]. International Journal 

of Nursing in Intellectual and Developmental Disabilities. 2009. 

Available from: http://www.ddna.org.

 11. Dunleavy MJ. The role of the nurse coordinator in Spina Bifida clinics. [Internet]. The Scientific World Journal. 2007;7:1884-89. Available 

from: http://www.thescientificworldjournal.com.

54 The Future is Now


 39. Steele S. Young children with myelomenigocele, with special refer-

Meeting of the Section on Nursing 

and Allied Health 

The section on Nursing and Allied Health (NAH) includes nurses, social 

workers, physical therapists, occupational therapists, dietitians, and “interested others.” The NAH podium and poster presentations were placed into 

one of two categories, Childhood Transitions or Promoting Positive Outcomes for People with Spina Bifida and Their Families. Acknowledging that 

those categories frequently overlap, the following summaries combine the 

key themes of all the presentations.

General Themes

Understanding the perceptions of people with Spina Bifida and their families is key to helping healthcare providers develop proper teaching-learning 

interventions and programming. Most of the following information was 

generated by qualitative studies, starting with younger children and ending 

with the late teen/young adult aged person.

In Jean Brown’s description of self-management of the neurogenic bladder, 

she emphasized the importance of timely interventions based on the process model of developmental stages. This is a sequential “stepping process,” 

resulting in successful transition to independent social continence. Parents 

and healthcare providers need to provide opportunities for this sequential 

developmental process to occur. 

When Pat Braun interviewed primary care givers about their perspectives on 

transitioning care of neurogenic bowel management to their pre-adolescent 

children with Spina Bifida, barriers and facilitators were identified. Those 

responses led to the development of a practice model to facilitate the transition process. When healthcare providers are knowledgeable about barriers 

and facilitators on an individual level as well as collectively, appropriate interventions can be planned and implemented, resulting in pre-adolescents 

assuming their own bowel care.

In a study reported by Kathy Sawin on adolescents’ perspective of how their 

family managed the chronic condition of Spina Bifida, it was concluded that 

adolescents were knowledgeable about the management behaviors needed 

by the family (skills, strategies for the routine as well as the non-routine). It 

was suggested that adolescents be included in family studies about chronic 

illnesses, as they are likely to contribute to the family’s management of the 

condition.

First World Congress on Spina Bifida Research and Care 59
Melissa Bellin reported on the experience of self-management of adolescent 

females with Spina Bifida. Barriers to participating in self-management 

activities included limited opportunities to manage money, build job skills, 

and develop autonomy in self-care decisions. Adolescents with Spina Bifida 

require planned, incremental responsibility for decision-making relative to 

their self-management experiences. 

Analysis by Christine Kinavey of commonalities in narrative accounts given 

by adolescents with Spina Bifida imply that the biopsychosocial challenges 

faced by children born with Spina Bifida may interfere with normative developmental processes, including self-identity. Greater efforts need to be put 

forth to maximize developmental opportunities and foster identity not only 

as an individual, but as a member of a family, the immediate community 

and the global community.

Teen mentoring projects reported by Karen Rauen emphasized that these 

projects can significantly contribute to the teen’s socialization skills, independence and participation in the community. Group activities as well as 

one-to-one activities with an adult mentor foster the achievement of individual teen goals as well as group goals. Outreach efforts to teens living 

outside of metropolitan areas can also achieve these goals through creative 

programming.

Transitions

The summary themes that resulted from the combination of presentations 

and discussions regarding transitions are: start early, offer opportunities, use 

repetition, and celebrate successes. 

More specifically, the group agreed to the following:

 • Pre-natal counseling is important in terms of providing information 

and starting a trusting relationship. This type of counseling should be 

encouraged.

 • Start early to transition to the next steps toward self-management. 

Transitioning often takes more time and more repetition for children 

with Spina Bifida.

 • Help parents learn to “let go” and to see the benefits for their child 

regarding involvement in decision making. Parents need to involve the 

child in chores and raise the bar on expectations.

 • While respecting different cultures, it is important that families are 

taught the consequences of not doing recommended activities, such as 

catheterizations.

60 The Future is Now

Treatment methods to promote continence for the neurogenic bowel were 

presented. Use of the Cone Irrigation Enema was reported by Jean Brown as 

an acceptable alternative to other non-surgical methods, resulting in a high 

level of continence for many children and adults. Using a standardized tool 

that assesses functional independence, Drew Davis presented a study on the 

degree to which the Antegrade Continence Enema (ACE) promoted bowel 

management independence in children with Spina Bifida. Results indicated 

that children were more independent in their bowel programs following 

the ACE.

A study to determine the effects of chronic health conditions on families 

that have a child with Spina Bifida, a rheumatological condition, epilepsy or 

asthma was reported by Karen Rauen. Instruments were used that measured 

family conflict and family impact. Despite the visual aspects of Spina Bifida 

and its complexities, families with Spina Bifida reported less problematic 

impact on the family than those with epilepsy and asthma.

Several presentations focused on pressure ulcer development in people with 

Spina Bifida. In a retrospective chart review reported by Patricia Beierwaltes, 76% of the subjects with Spina Bifida had had a pressure ulcer (48% 

sacral; 45% foot). While 10% of the ulcers were caused by burns, the rest 

(90%) were caused by pressure. The researchers correlated ulcer development with incontinence and program adherence. They found that program 

non-adherence was the only significant variable related to ulcer development. It was concluded that developing ways to promote adherence with 

healthcare regimes is critical to the prevention of pressure ulcers and their 

associated complications and costs. Laura Gueron reported that a survey 

of Spina Bifida clinics regarding lower extremity assessments revealed that 

responders did not use any type of formal evaluation or educational tools. 

Subsequently, Gueron’s group developed foot screening and foot evaluation 

forms, a teaching DVD, and a lower extremity education packet about skin 

care for patients. The instructional Skin Care DVD includes how to inspect, 

wash, and care for the lower extremities as well as proper sock and shoe 

selection and orthotic wear. Pre-tests were administered to subjects before 

they watched the DVD. Post-tests showed significant improvement in understanding the care needed for lower extremity health and pressure ulcer 

prevention.

Sexuality of adolescents and young adults (AYAs) is a topic rarely discussed 

with parents or people with Spina Bifida. However AYAs are interested in it 

and have many unanswered questions. Dealing with the sexual consequences of having a disability offers unique challenges. Susan Labhard reported 

that to address the “need to know,” a Sexuality Workshop for Adults with 

Spina Bifida was developed and implemented in a Spina Bifida clinic and 

a transition camp. Topics included relationships and sexuality, options to 

62 The Future is Now
traditional sexual expression, useful references and the use of appropriate 

media. Labhard concluded that clinical research has demonstrated that 

young adults can improve their knowledge of socialization and sexuality by 

attending a one hour workshop on the topic.

The summary themes that resulted from the combination of presentations 

and discussions regarding interventions to promote positive outcomes are: 

develop useful tools–and test them, use what works best, find ways to motivate, and address all relevant topics. 

More specifically, the group agreed to the following:

 • L atex precautions need to be continued for people with Spina Bifida, 

with a common sense approach regarding sensitivity.

 • Bo wel continence is critical to medical issues (constipation, skin ulcers), mental health issues (self-esteem), and social issues (isolation).

 • Use what works best. The Cone Irrigation Enema may result in 

bowel continence for some, while others do best to achieve that 

goal via the ACE.

 • Dev elop a concrete plan for advancing self-management skills and 

independence that is really understood. Terminology can be barriers to 

success, and repetition and practice are essential.

 • Recognize that sometimes parents and providers do all the right interventions to move a child toward greater independence, but the child’s 

cognitive issues and need for external motivation may be the problem; 

acknowledge this and change the approach.

 • When written tools and return demonstrations do not show understanding of a newly learned skill, a DVD that can be repeated many 

times may be helpful.

 • Regarding sexuality and the person with Spina Bifida, families need 

to understand privacy issues, friendships, relationships, and the appropriateness of wanting to be sexually active. The person with Spina 

Bifida needs to be aware of the risk of sexual exploitation and how to 

prevent it from happening. 

First World Congress on Spina Bifida Research and Care 63
Future Directions for Research and Care

More research and care initiatives are needed in the following arenas:

 • Helping parents of a child with Spina Bifida to see the benefits of 

 o Giving the child age-appropriate choices 

 o Involving the child in household chores

 o Promoting self-care management

 o Raising the bar on expectations

 o Incrementally increasing the child’s responsibility

 o Seeing the child as a sexual being

 o Involving the child in his/her larger community

 • Participating in innovative health promotional/self-management 

opportunities and programs

 • E valuating latex sensitivity in the Spina Bifida population to determine 

which precautions are necessary and which ones are not

 • Developing appropriate tools to address the sexuality-related educational needs of this population

 • Identifying strategies to motivate the person with Spina Bifida to adhere to self- management and healthcare recommendations

 • Encouraging greater sponsorship of multisite studies to increase subject numbers and, therefore, increase the generalizability of findings to 

the greater Spina Bifida community.

64 The Future is Now
Urology

XIAO Procedure to Refunctionalize Bladder and 

Bowel for Patients with Spina Bifida

Chuan-Guo Xiao, MD

Department of Urology

Union Hospital

Tongji Medical College

Huazhong University of Science and Technology

Wuhan, China

Email: xiaocg@mails.tjmu.edu.cn

Acknowledgment:

Supported by grants from: The National Key Basic Research Program of 

China (2003CB515300); The Ministry of Public Health of China (Major 

Clinical Trial Grant); Natural Science Foundation of China (NSFC 39925033) 

Abstract

An artificial somatic-autonomic reflex pathway procedure for restoring 

voluntary bladder and bowel control in patients with Spina Bifida was 

introduced. Clinical application and the results of the new procedure are 

reviewed in detail. 

Introduction

Neurogenic voiding dysfunction is a major problem for children with Spina 

Bifida, which affects approximately one per thousand newborns [1]. Despite 

rigorous pharmacologic and surgical treatment, incontinence, urinary tract 

infections, and upper tract deterioration remain problematic. The combination of pharmacological agents, surgical bladder augmentation, and clean 

intermittent catheterization has limited success [2].

History

In 1989 we proposed to establish an artificial “skin-CNS-bladder” reflex 

pathway below the spinal cord lesion (or just above the lesion for sacral 

cord injury) as a means of restoring controllable micturition after spinal 

cord injury (SCI) [3]. The assumption underlying this work is that the motor axons of a somatic reflex arc may be able to regenerate into autonomic 

preganglionic nerves and thus reinnervate the bladder parasympathetic 

ganglion cells, thereby transferring somatic reflex activity to the bladder 

First World Congress on Spina Bifida Research and Care 65
smooth muscle. This reflex pathway, which is basically a somatic reflex arc 

with a modified efferent branch that transfers somatic motor impulses to 

the bladder, has been designed to allow patients with SCI to initiate voiding 

by scratching the skin. 

The new concept was tested first in rats [4]. An artificial cross over “skinCNS-bladder” reflex pathway was established by intradural microanastomosis of the left L4 ventral root to the L6 ventral root, which innervates the 

bladder and external urethral sphincter in rats, while leaving the L4 dorsal 

root intact as a starter of micturition. After axonal regeneration, 15 of the 

24 rats with the new pathway underwent electrophysiological study. Single 

stimuli (0.3-3 mA, 0.02-0.2 ms duration) to the left L4 nerve resulted in 

evoked potentials (0.5-1 mV) recorded from the left L6 nerve distal to the 

anastomosis. The bladder detrusor contraction was very quickly initiated by 

trains of the stimuli and bladder pressures increased rapidly to levels similar 

to controls. Neural tracing study of the pathways with horseradish peroxidase (HRP) on six rats demonstrated that the somatic motor axons regenerated successfully into the pelvic nerve, and the bladder was reinnervated 

by the L4 somatic motor neurons. The bladder contraction could also be 

initiated by electro stimulation of left sciatic nerve as well as by scratching 

the L4 related skin. A new concept was derived from the skin-CNS-bladder 

reflex pathway: i.e., that the impulses delivered from the efferent neurons of 

a somatic reflex arc can be transferred to initiate responses of an autonomic 

effector [4].

Continued animal experiments were focused on the underlying mechanism 

of the somatic-autonomic reflex pathway for micturition. The skin-CNSbladder reflex was established in the cat by intradural microanastomosis 

of the left L7 ventral root (VR) to the S1 VR while leaving the L7 dorsal root 

(DR) intact to conduct cutaneous afferent signals that could trigger the new 

micturition reflex arc [5]. 

After allowing 11 weeks for axonal regeneration, urodynamic, pharmacological, and electrophysiological studies were conducted in pentobarbital or 

chloralose anesthetized animals. Results showed that a detrusor contraction was initiated at short latency by scratching the skin or by percutaneous 

electrical stimulation in the L7 dermatome. Maximal bladder pressures during this stimulation were similar to those activated by bladder distension in 

control animals. Electrophysiological recording revealed that single stimuli 

(0.3 to 3 mA, 0.02 to 0.2 msec duration) to the left L7 spinal nerve in which 

the efferent axons had degenerated evoked action potentials (0.5 to 1 mV) 

in the left S1 spinal nerve distal to the anastomosis. In addition, increases in 

bladder pressure were elicited by trains of the stimuli (5 to 20 Hz, 5 seconds) 

applied to the L7 spinal nerve. 

66 The Future is Now
Urodynamic studies including external sphincter EMG recording demonstrated that the new reflex pathway could initiate voiding without detrusor-external urethral sphincter dyssynergia. Atropine (0.05 mg/kg, i.v.) or 

trimethaphan (5 mg/kg, i.v.), a ganglionic blocking agent, depressed the 

bladder contractions elicited by skin stimulation. The skin-CNS-bladder 

reflex could also be elicited after transecting the spinal cord at the L2-L3 or 

L7-S1 levels. 

In summary, the cross-wired somato-autonomic bladder reflex was effective in initiating bladder contractions and coordinated voiding in cats with 

an intact neuraxis and could also induce bladder contractions after acute 

transection of the lumbar spinal cord. The new pathway is mediated by 

cholinergic transmission involving both nicotinic and muscarinic receptors. 

The somatic motor axons can innervate bladder parasympathetic ganglion 

cells and thereby transfer somatic reflex activity to the bladder smooth 

muscle [5].

Clinical Trials

A clinical trial of the artificial somatic-CNS-autonomic reflex arc procedure 

was started in 1995 with very promising results [6]. By the end of 2004, a 

total of 92 patients with SCI who had hyper reflexic or acontractile bladders 

in our hospital had been treated with the somatic and autonomic reflex arc 

procedure; 81 of them regained bladder control one year postoperatively 

[7]. The National Institutes of Health (NIH) at New York University Medical Center sponsored a clinical trial of the somatic-autonomic reflex arc for 

micturition after SCI; this has also produced similar satisfactory results for 

the first two SCI volunteers [8]. 

Encouraged by the ability to surgically establish a somatic-autonomic reflex 

pathway in patients with SCI with restoration of bladder storage and emptying, we started a trial of this procedure on 20 children with Spina Bifida and 

neurogenic bladder in 2000 [9]. The neurological principals underlying the 

procedure were the same as for the patients with SCI, though the specific 

details were different due to the neural abnormalities associated with Spina 

Bifida. 

All the children underwent limited laminectomy and a lumbar ventral root 

(VR) to S3 VR micro-anastomosis. The L5 dorsal root (DR) was left intact to 

serve as the afferent branch of the somatic-autonomic reflex pathway after 

axonal regeneration. All patients underwent urodynamic evaluation before 

and after surgery. Preoperative urodynamic studies revealed two types of 

bladder dysfunction: areflexic bladder (n=14) or hyperreflexic bladder with 

detrusor external sphincter dyssynergia (DESD) (n=6). All children were incontinent. Seventeen of the 20 patients gained satisfactory bladder control 

First World Congress on Spina Bifida Research and Care 67
and continence within 8 to 12 months after VR microanastomosis. Twelve 

(71.4%) of the 14 patients with areflexic bladder showed improvement. In 

these cases, the bladder capacity increased from 117 to 208 mL, and the 

mean maximal detrusor pressure increased from 18.35 to 32.57cm H20. Five 

of the 6 patients with hyperreflexic bladder showed improvement with resolution of incontinence. Urodynamic studies in these cases revealed a change 

from detrusor hyperreflexia with DESD and high detrusor pressure to nearly 

normal storage and synergic voiding. In these cases, mean bladder capacity 

increased from 94.33 to 177.83 ml, post void residual urine decreased from 

70 to 24 mL. Overall, three cases failed to exhibit any improvement. 

Like the patients with SCI, the children who gained bladder control also 

gained bowel control. Five patients had signs of partial loss of the left L4 

or L5 motor function after surgery, variable from slight muscular weakness to visible foot drop in two children. Otherwise, no short or long term 

complications or adverse events were observed. The most fascinating and 

unexpected result of this trial, however, was that the children who gained 

bladder storage and emptying functions also gained bladder sensory function. Pre-existing sensory infrastructure may have been activated by stretch 

as the detrusor tone and bladder storage function improved. Since spinal 

cord continuity was not interrupted as in SCI, the central nervous system at 

both spinal and supra-spinal levels may have plasticity to accommodate the 

artificial somatic-autonomic reflex pathway for micturition. Thus, it appears 

that the artificial somatic-autonomic reflex arc procedure is an effective and 

safe treatment for patients with Spina Bifida to restore bladder continence 

and reverse bladder dysfunction [9]. 

Thus far, we have performed the procedure for bladder and bowel control 

safely on 1520 children with Spina Bifida [10]. Of these, 640 have had followup with urodynamic testing at one year postoperatively. The “effective” rate 

is 87%, compared to the 85% for the first 20 cases reported. The criteria to 

determine “effectiveness” includes: 1) voluntary voiding without catheterization, 2) post void residual urine less than 100 mL, 3) No urinary tract infections (UTI), and 4) freedom from anticholinergics. A small portion of the 

patients did have mild stress incontinence at the one-year follow-up, but 

68 The Future is Now
they usually needed no more than one diaper per day. This kind of stress 

continence likely will disappear or be reduced within two years postoperatively, according to our experience with the first 20 patients who had had at 

least two-year follow-up. The rate of partial loss of left-sided L4 or L5 motor 

function after surgery, which had a rate of 25% in the first 20 cases, has been 

reduced to 5%; this decrease in the complication of weakness likely is due 

to a change in procedure in which only half the lumbar ventral root is used 

[10].

Neurogenic bowel disorders, another major problem for Spina Bifida patients, are also improved by the procedure. Follow-up of 640 patients at the 

one-year post surgery who had manometry testing showed an improvement 

rate of 87%. In general, those who gained bladder function also gained 

bowel with improvement in continence or constipation; also, both bladder 

and bowel sensory function were improved. Interestingly, most patients 

felt bowel function improvement one month earlier than bladder function 

[10]. In summary, the artificial somatic-autonomic reflex pathway procedure 

(XIAO Procedure) can improve bladder continence and reverse bladder dysfunction for patients with Spina Bifida effectively and safely.

First World Congress on Spina Bifida Research and Care 69
References

 1. Selzman AA, Elder JS, Mapstone TB. Urologic consequences of myelodysplasia and other congenital abnormalities of the spinal cord. Urol 

Clin North Am. 1993 20:485-504.

 2. St one AR. Neurourologic evaluation and urologic management of 

spinal dysraphism. Neurosurg Clin N Am. 1995 6:269-77.

 3. Xiao CG, Schlossberg SM, Morgan, CW and Kodama R. A possible 

new reflex pathway for micturition after spinal cord injury. J. Urol. 

1990 143:356A.

 4. Xiao CG, Godec CJ. A possible new reflex pathway for micturition after 

spinal cord injury. Paraplegia. 1994 32:300-7.

 5. Xiao CG, de Groat WC, Godec CJ, Dai C, Xiao Q. “Skin-CNS-bladder” 

reflex pathway for micturition after spinal cord injury and its underlying mechanisms. J Urol. 1999 162:936-42.

 6. Xiao CG, Du MX, Dai C, Li B, Nitti VW, de Groat WC. An artificial 

somatic-central nervous system-autonomic reflex pathway for controllable micturition after spinal cord injury: preliminary results in 15 

patients. J Urol. 2003 170:1237-41.

 7. Xiao CG, A somatic-autonomic reflex pathway procedure for neurogenic bladder and bowel: results on 92 patients with SCI and 110 children with Spina Bifida. Proceedings of the International Conference 

of Urology at Shanghai, July 2-4 2005, Shanghai, China. 

 8. K elley CE, Xiao CG, Weiner H, Beric A, Nitti VW, Lepor H. Creation 

of a somatic-autonomic reflex pathway for treatment of neurogenic 

bladder in patients with spinal cord injury: preliminary results of the 

first 2 USA Patients. J Urol. 2005 173:1132A.

 9. Xiao CG et al. An artificial somatic-autonomic reflex pathway procedure for bladder control in children with Spina Bifida. J Urol. 2005 173: 

2112-2116.

 10. Xiao CG. XIAO procedure to refunctionalize bladder and bowel 

for children with Spina Bifida: One year results of 640 cases. In 

preparation.

70 The Future is Now
Meeting of the Section on Urology

Xiao Procedure in the United States

The Urologic session began with a provocative report by Kenneth Peters, 

MD from William Beaumont Hospital in Bloomfield Hills, Mich., describing 

his experience using the Xiao procedure for rerouting functioning lumbar 

motor nerves to sacral root motor neurons that innervate the lower urinary 

tract. Nine children underwent this procedure and were followed for at least 

one year. Their evaluation revealed that one child was able to volitionally 

void to completion with no incontinence or urinary infections. Six other 

children had bladder contractility and were able to initiate a reflex contraction by scratching or rubbing the appropriate ipsilateral sensory dermatome 

but neither could fully empty their bladder or totally control when urination 

occurred. In two children no improvement in bladder function occurred following this surgery. Dr. Peters raised concerns about the procedure because 

eight children experienced some degree of transient weakness in the ipsilateral lower extremity after surgery; however, this change resolved in seven 

children by 6 months postoperatively. One child, however, has a persistent 

foot drop at last follow-up. 

Cancer in Adults

J. Christopher Austin from Iowa discussed an alarming finding of 10 adults 

with carcinoma in their augmented bladder at a mean interval of 11 years 

post surgery. All tumors were invasive cancers and all had local metastases 

at the time of diagnosis, revealing their aggressiveness. This was succeeded 

by a lecture from Richard Rink from Indiana who found an overall incidence 

of bladder tumor formation following augmentation cystoplasty with intestine or stomach in his patients of 3%. A discussion ensued regarding the 

best way to screen patients with a prior augmentation; although no consensus was reached, it was felt that at least a renal and ‘bladder’ ultrasound was 

necessary every year beginning five years after the cystoplasty. 

Co-morbidity

Several reports dealt with co-morbidity factors and Spina Bifida. Dominic 

Fimberger from Oklahoma noted that body mass index (BMI) had a positive predictive value with regard to complication rates following surgery in 

children with Spina Bifida. Unfortunately, most patients with myelodysplasia are overweight or obese and this may contribute to their higher rate of 

complications. 

First World Congress on Spina Bifida Research and Care 71
In a study of factors leading to renal failure in children with neurogenic 

bladder dysfunction, Michele Torre from Genoa, Italy, found that vesicoureteral reflux and upper urinary tract dilation were most often associated with renal functional impairment in these children. John Weiner from 

Duke studied a nationwide sample of patients with Spina Bifida discharged 

from the hospital; 82% undergoing bladder rehabilitation surgery had an 

augmentation compared to 18% with an ileal conduit diversion. The majority of the former were female and younger than those having an ileal loop. In 

addition, the diversion group required fewer health care resources, shorter 

hospital stays and less use of home health care aids. In another study, Alum 

Williams from Nottingham, England, concluded that patients had better 

continence outcomes if a caecostomy was performed in conjunction with 

augmentation cystoplasty, because this enhanced the effectiveness of the 

postoperative bowel management program. 

Basic Science

Dominic Frimberger from Oklahoma found that (1) canine small intestine 

submucosa (SIS) bladder constructs did better when incubated with hyaluronic acid polylactic co- glycolic nanoparticles, (2) urothelial regeneration over SIS expressed normal proteins uroplakin and ZO-1 by two weeks 

postoperatively suggesting a normal urothelial barrier to urine infiltration, 

and (3) distal SIS tissue produced less inflammatory response than proximal 

SIS with more macrophage and fewer eosinophil infiltrates, producing less 

of a destructive reaction in the bladder constructs. 

Several papers dealt with the new field of stem cell research and autologous 

bladder augmentation. Yusuf Kibar from Ankara, Turkey, assessed the feasibility of injecting bone-marrow-derived mesenchymal stem cells into rat 

bladders subject to increased outlet obstruction; they found that the decompensated bladders had increased muscle mass, contracted in response to 

M3 receptor stimulation and showed improved urodynamic parameters for 

compliance and capacity. 

Earl Cheng from Chicago, Ill., showed that bone marrow-derived mesenchymal stem cells grown in tissue culture expressed properties similar to 

smooth muscle cells and that epithelial progenitor cells grown in tissue 

culture had the ability to induce vascular in-growth. Thus, the combined 

harvesting of these “primitive” cells has the potential for being used in tissue engineering of neo-bladders in the future. 

72 The Future is Now
Surgical Techniques

New surgical techniques for improving urinary continence were proposed. 

Gregory Dean from New York successfully employed a polypropylene 

perineal sling for incontinence in males with neurogenic bladder dysfunction, and reported an 80% complete continence rate. The Oklahoma group 

(Dr. Fimberger et al) found that bulking agents injected into either the continent urinary or fecal stoma to relieve persistent incontinence after surgery 

was successful in 78%, thus reducing the need for an extensive re-operative 

procedure. Finally, this latter group noted an 85% continence rate with 

urethral lengthening to achieve dryness and only a 7% incidence of difficulty 

with subsequent catheterization. 

Warren Snodgrass from Dallas, Texas evaluated the long-term effects of a 

bladder neck sling procedure on detrusor compliance. Initially he found 

only five children had improved compliance at one year post-surgery, but an 

additional six improved subsequently. Only one child’s bladder compliance 

worsened with time. Thus, he discussed the need for early augmentation 

cystoplasty after bladder neck surgery because his observations suggest that 

it takes time for the bladder to adjust to increased outlet resistance. All the 

remaining children in his study had no change in their bladder compliance.

Timothy Bertram from Winston-Salem studied bladder constructs for 

trigone-sparing augmentation cystoplasty in juvenile canines. At two years 

following surgery he found that three distinct layers of “normal” tissue had 

developed in these augments over time along with good detrusor compliance and capacity. He concluded that the bladders grow as these animals 

mature into adults. All these research efforts are beginning to show progress 

in the ability of surgeons to replace severely diseased bladders with autologous tissue, thus reducing the need for bowel augmentation.

Antegrade Colonic Enema (ACE)

The Malone antegrade colonic enema (MACE) procedure was discussed by 

Anthony Balcom from Milwaukee, Wis., who evaluated various irrigating 

solutions for cleansing the bowel using the antegrade continent stoma. He 

found that baby shampoo mixtures, followed by polyethylene glycol solutions were the most efficacious in reducing “toileting time” while other 

additives led to increased seepage from the stoma. The site of the ACE (left 

versus right) did not affect this finding. Many confounding variables affected the response, however, including the state of hydration, degree of 

ambulation, type of diet, degree of motivation, as well as the number of 

co-medications.

Jonathan Kaye from Atlanta, Ga., described similar findings regarding left 

versus right-sided ACEs in 34 patients. No differences in toileting time, ease 

First World Congress on Spina Bifida Research and Care 73
of use, incidence of stomal stenosis or other complications were found when 

one side was compared to the other. John Park from Ann Arbor, Mich., performed 45 ACEs (20 right-sided and 25 left-sided) and again found no difference in amount of irrigation solution needed to achieve a good response. 

However, he did note a significant increase in toileting time, more abdominal colic and less effective emptying with the caecal versus the sigmoid ACE. 

In both instances he cautioned for the need to create a good continence 

mechanism due to troubling seepage from the stoma that may occur if this 

has not been attained. 

Earl Cheng presented a simple yet effective way to prevent stomal stenosis 

using the “L-stent,” a shortened catheter tied into a knot to prevent seepage through its lumen but more importantly to create an “L” shape so it can 

be inserted into the stoma and easily taped to the surrounding skin when 

an individual is not using the ACE; 17% of stomas developed stenosis in his 

series, but following placement of the “L-stent” and a daily application of 

betamethasone cream to the surrounding tissue, 87% reported improved 

ease of catheterization with no further need for any corrective surgery. 

Quality of Life

In recent years there has been increasing interest in assessing quality of life 

in children with incontinence and Spina Bifida. Jenna Brand from Richmond, Va., conducted face-to-face interviews with 39 children (between the 

ages of 5 - 11 and 12 - 21 years) and their families. Parents and children had 

differing views about their quality of life. The degree of cognition and continence impacted positively on children, especially in the older aged group. 

Parents had more negative feelings about their child’s quality of life than 

their child did. In another study by Ann Neville-Jan from Pasadena, Calif., 

similar findings were noted: namely that urinary and fecal continence issues 

affected how older children performed in school and interacted with peers. 

Incontinence issues had a greater impact on teenagers than on pre-adolescents. The implications of using intermittent self-catheterization were not 

addressed in either study; however, this warrants further research.

74 The Future is Now
Continence

Tera Bartelt from Milwaukee, Wis., evaluated the effectiveness of a continence program, which led to changes in both bladder and bowel function in 

children with Spina Bifida. She showed that efforts to improve continence 

in both systems simultaneously produced better outcomes than when either 

organ system was dealt with independently. The patient’s level of lesion and 

extent of assistance needed, correlated positively with effectiveness of the 

response.

Urodynamic Testing

Andrew Coombs from Manhattan, attempted to improve the quality, reproducibility, and predictability of urodynamic studies in children with Spina 

Bifida by more accurately measuring detrusor leak point pressure (DLPP). 

He compared the DLPP (1) at the end of a cystometrogram with the catheter in place with DLPP (2) after the catheter was removed and reinserted, 

following cessation of all leakage. If the DLPP dropped below 40 cm H2O 

with the second measurement, then upper urinary tract deterioration was 

substantially less likely to occur (15% of the sample) than if both pressure 

recordings remained above that level (44% of the sample). No child developed renal insufficiency in the former group whereas 11% did so in the latter 

group. In another study Mr. Coombs noted that at Columbia University, urodynamic studies are being performed at an earlier age than previously done 

in Spina Bifida children–primarily as a baseline to characterize lower urinary 

tract function and to treat children at risk proactively. On the other hand, 

children followed in community settings are being referred for lower urinary 

tract evaluation only after deterioration has occurred. The practice of utilizing urodynamic testing by community based physicians has not changed in 

the last 15 years and begs the question for developing standards of care for 

the Spina Bifida population. 

Michael Carr from the Children’s Hospital of Philadelphia presented the 

results of urodynamic testing in 54 children who had undergone prenatal 

closure of their myelomeningocele defect at 22 to 24 weeks of gestation prior 

to initiation of the MOMS trial. At five years of age, 10 children (18.5%) were 

voiding volitionally and were continent; two additional children were almost 

continent. As the assessment of these children is ongoing, it will be instructive to compare the findings in this group with children from the MOMS 

trial in the future.

First World Congress on Spina Bifida Research and Care 75
Medications

Israel Franco from Long Island Jewish Hospital in New York evaluated the 

safety and efficacy of a new alpha-blocking agent, Alfuzosin, in children 

with Spina Bifida. At 0.2 mg/kg per dose, this drug proved to be safe and 

well tolerated without any drop in blood pressure while it lowered the leak 

point pressure, increased bladder capacity and improved compliance in 

most of the children who received the medication. 

Paul Austin from St. Louis, Mo., reviewed the current literature on safety 

and efficacy of all drugs that affect lower urinary tract function in Spina 

Bifida. Most anticholinergic agents have a positive response in reducing over 

activity and increasing bladder compliance, but side effects are not uncommon. Some newer antimuscarinic agents (e.g., propiverine HCl) have greater 

selectivity towards detrusor muscle receptors with fewer systemic adverse 

effects; but these have not been tested extensively in children and are currently not approved by the FDA for use in the pediatric age group. 

Summary

These exciting developments and the discussions that ensued during the 

breakout session speak to the high degree of interest as well as the need for 

better ways to manage the lower urinary tract in children with Spina Bifida 

and neurogenic bladder dysfunction. Overall, 43 abstracts were submitted, 

with several from centers outside the United States, including the United 

Kingdom and Turkey; 29 were given as either oral only or oral-poster presentations with the remaining 14 as poster only displays. The spectrum and the 

quality of the clinical, translational, and basic science research promoted at 

this meeting sparked thoughtful commentary and, hopefully, new avenues 

of research for future meetings. 

76 The Future is Now
Neuropsychology

Structural Changes and Dysfunction 

in the Hydrocephalic Brain

Marc R. Del Bigio, MD, PhD, FRCPC

Professor - Department of Pathology (Neuropathology)

University of Manitoba

Room 401 Brodie Centre

727 McDermot Avenue

Winnipeg MB R3E 3P5 Canada

Email: delbigi@cc.umanitoba.ca

Acknowledgment:

Dr. Del Bigio holds the Canada Research Chair in Developmental 

Neuropathology.

Conflict of Interest Disclaimer:

The author has received small contract fees from Codman and currently 

serves as a project consultant to Medtronic, both in relation to development 

of shunt technology.

Summary

I

n the context of Spina Bifida, hydrocephalus is usually caused by crowding 

of the posterior fossa with obstruction to cerebrospinal fluid flow from the 

fourth ventricle, and less often by malformation of the cerebral aqueduct. 

Some of the brain dysfunction is reversible by shunting, probably through 

restoration of cerebral blood flow and normalization of the extracellular 

environment. However, beyond a certain point, enlargement of the cerebral 

ventricles causes gradual destruction of periventricular white matter axons, 

especially the fimbria-fornix pathway and the corpus callosum. The clinical 

syndrome of hydrocephalic brain dysfunction is thus a syndrome of subcortical disconnection.

Meningomyelocele occurs in 3 to 7/10,000 live births with up to 50% of affected pregnancies terminated in some regions [1-3]. Hydrocephalus can be 

defined as a primary pathologic enlargement of the intracranial cerebrospinal fluid (CSF)-filled spaces. At birth approximately 2/10,000 live births have 

meningomyelocele with established hydrocephalus [4], and eventually 90% 

of individuals with meningomyelocele have enlarged cerebral ventricles and 

First World Congress on Spina Bifida Research and Care 77
50% to 80% develop hydrocephalus requiring surgical intervention [5-7]. 

In the context of meningomyelocele, hydrocephalus is usually caused by 

crowding of the posterior fossa with obstruction to CSF flow from the fourth 

ventricle (i.e. the Chiari-II (a.k.a. Arnold-Chiari) malformation), and less 

often by malformation of the cerebral aqueduct [8].

Most CSF is produced by the choroid plexus while approximately 20% is 

water derived from the brain as product of glycolysis [9] and an unknown 

quantity by free exchange of water across the blood brain barrier [10]. Absorption of CSF is via arachnoid villi into the venous system and lymphatics 

associated with cranial and spinal nerves; the relative contribution of each is 

debated [11]. CSF has multiple functions including cleansing of potentially 

noxious byproducts of brain metabolism, a vehicle for molecular communication, and protection of brain by cushioning from vascular and extraneous 

shock waves [12].

The pathology of brain damage caused by hydrocephalus has been described in detail in several previous reviews [13-16]. Briefly summarized, 

the changes include destruction of the ependymal lining of the ventricle 

surface, stretching and compression of axons and small blood vessels in the 

periventricular white matter, secondary reactive changes including activation and proliferation of astrocytes and microglia, and destruction of axons 

with loss of connections between neurons. In humans and other species the 

major white matter targets are the fimbria-fornix, which connects the hippocampus to subcortical regions, and the corpus callosum. Long pathways 

extending to the spinal cord can also be damaged [17]. A threshold effect 

seems apparent and ventricular enlargement is tolerated to a limit; but the 

limit has not been well defined anatomically. The magnitude of damage is 

affected by the age of onset, the rate of ventriclular enlargement, the size of 

the ventricles, the intracranial pressure (which in turn dictates the cerebral perfusion pressure), and coexisting pathological changes (especially 

cerebrovascular disease in older individuals [18]). In very immature brains 

with active cell proliferation, hydrocephalus can disturb development [19]. 

In infantile brains, ventricular enlargement can cause delayed myelination, 

which can recover after shunting [20-23]. However, axonal damage is not 

reversible.

The pathogenesis of the brain damage is multifactorial. At the most simple 

level, enlarging ventricles cause damage by mechanical stretching of axons. 

However, more complex processes are at work. In experimental animals, a 

reduction in the quantity of patent capillaries in the periventricular white 

matter occurs [24-26] with associated reductions in cerebral blood flow 

(CBF). CBF and related parameters have been measured in human hydrocephalus using a variety of techniques including positron emission tomography, transcranial Doppler, and radionuclide angiography; most have dem78 The Future is Now
onstrated CBF reductions especially in white matter [27-29]. Improvement 

of blood flow after shunting correlates with clinical improvement in many 

studies [30-32]. Decreased blood flow is associated with local increases in 

glucose utilization [23], oxidative stress including lipid peroxidation and 

protein nitrosylation [33, 34], and activation of calcium-dependent proteolytic enzymes that destroy axons, similar to the molecular processes in 

stroke and head injury [35]. 

In addition to the cascade of damage caused by diminished blood flow, 

the alterations in extracellular fluid movements must be considered. Bulk 

flow of fluid occurs through interstitial spaces at a rate of 0.1 to 0.3μL/

minute-gram of tissue [36]. Metabolic byproducts that cannot be recycled 

or extruded across the blood brain barrier flow to the ventricles from which 

they are washed away with CSF flow [37]. In hydrocephalus the extracellular 

spaces of gray matter are compressed [38, 39] and extracellular fluid flow is 

reduced [40, 41]. As a consequence, waste products accumulate in CSF and 

brain tissue [42, 43]. This imbalance of fluid outflow likely disturbs the delicate extracellular environment of neurons thereby impairing their function. 

However, with shunting this change is likely reversible.

Many studies have shown tissue changes in various neurotransmitters as a 

consequence of hydrocephalus [13, 44, 45]. Some of the neurotransmitter 

changes may be reversible by shunting [46]. However, when axons are lost, 

the density of synapses and the complexity of dendrites are reduced mainly 

in the cerebral neocortex but also in the hippocampus [47-57]. The upregulation of growth-associated protein (GAP-43) in hydrocephalus might be 

associated with synaptic remodeling [58]. Although neuronal changes in the 

striatum are not typically identifiable at the microscopic level, some imaging evidence supports functional changes in dopamine receptors [59].

Brain function is ultimately determined by the integrity, connectivity, and 

function of neurons, and hydrocephalus is associated with considerable 

impairments of function. This can be measured in humans and experimental animals electrophysiologically [60-70], by tests of learning and memory 

function [71-76], and by tests of motor function [68, 77-82].

The mainstay of treatment for hydrocephalus is CSF shunting, which is 

usually capable of reducing the ventricle size and may stop the progression 

of the damage [13]. However, the benefits of shunting need to be balanced 

with potential complications, particularly in premature infants and the 

elderly. Therefore, there may be a role for a pharmacologic supplement to 

treat hydrocephalus. The potential targets for pharmacologic intervention 

include reducing CSF production [83], enhancing CSF flow/absorption, 

“neuroprotection,” axonal protection, improving blood flow, and improving 

recovery after shunting. For reasons previously discussed [15], reducing CSF 

First World Congress on Spina Bifida Research and Care 79
production might not be feasible. We have shown that the calcium channel 

antagonists nimodipine and MgSO4 improve the behavioral and structural 

outcomes of juvenile rats with hydrocephalus, likely through improvement 

of blood flow [84-86]. Others have shown that antioxidant therapy is worth 

investigating at the experimental level [87]. However, given the lessons 

learned in the treatment of strokes, we must not rush into drug therapy 

without adequate preclinical investigation [88].

Future investigation of the pathophysiology of hydrocephalus will depend 

on the use of optimal animal models [89-91], proteomic studies of cerebrospinal fluid [42], and the use of advanced imaging methods [92]. Interdisciplinary cooperation will be the key to understanding and optimally treating 

hydrocephalus and Spina Bifida [93]. 

References

 1. Garne E, Loane M, Dolk H, et al. Prenatal diagnosis of severe structural congenital malformations in Europe. Ultrasound Obstet Gynecol. 

2005;25:6-11.

 2. M orris JK, Wald NJ. Prevalence of neural tube defect pregnancies in 

England and Wales from 1964 to 2004. J Med Screen. 2007;14:55-9.

 3. R ichmond S, Atkins J. A population-based study of the prenatal diagnosis of congenital malformation over 16 years. BJOG. 2005;112:1349-57.

 4. Persson EK, Anderson S, Wiklund LM, Uvebrant P. Hydrocephalus in 

children born in 1999-2002: epidemiology, outcome and ophthalmological findings. Childs Nerv Syst. 2007.

 5. Talamonti G, D’Aliberti G, Collice M. Myelomeningocele: long-term 

neurosurgical treatment and follow-up in 202 patients. J Neurosurg. 

2007;107:368-86.

 6. Davis BE, Daley CM, Shurtleff DB, et al. Long-term survival of individuals with myelomeningocele. Pediatr Neurosurg. 2005;41:186-91.

 7. Chakraborty A, Crimmins D, Hayward R, Thompson D. Toward reducing shunt placement rates in patients with myelomeningocele. J 

Neurosurg Pediatr. 2008;1:361-5.

 8. R ussell DS. Observations on the pathology of hydrocephalus. Med 

Res Council Special Report Ser. 1949;265:1-138.

 9. Rapoport SI. Blood-Brain Barrier in Physiology and Medicine. New 

York: Raven Press; 1976.

80 The Future is Now


 32. Miyamoto J, Tatsuzawa K, Inoue Y, Imahori Y, Mineura K. Oxygen 





Meeting of the Section on Neuropsychology

The Neuropsychology Breakout Session consisted of two oral presentations 

and a poster session. The first set of oral presentations was devoted to the 

application of contemporary functional and structural neuroimaging methods to Spina Bifida. The second presentation addressed psychosocial factors in Spina Bifida. The posters were predominantly neuropsychology and 

cognitive neuroscience studies. 

Neuroimaging

In the first session, Dr. Roozbeh Rezaie discussed applications of magnetoencephalography to children with meningomyelocele and age-matched 

controls. Dr. Rezaie described the assessment of brain functioning using 

magnetoencephalography, which is a whole head neurophysiological method that assesses the biomagnetic fields generated by electrophysiological 

changes in the brain. In the first study, Dr. Rezaie described a study in which 

cortical oscillatory rhythms were assessed in children with meningomyelocele and shunted hydrocephalus who varied in the integrity of the corpus 

callosum. This study found a significant reduction in the power spectrum in 

posterior and temporal brain regions and not in anterior and central areas. 

Significant correlations occurred between the quantitative measurements of 

the corpus callosum and alpha spectral power. The results suggested reduced regional transcallosal connectivity in these children. 

Dr. Rezaie then described assessments of touch perception in children with 

Spina Bifida. Magnetoencephalographic recordings were made in response 

to a vibrating stimulus held on the fingers. The results demonstrated that 

both the ipsilateral and contralateral components of this somatosensory 

evoked potential were present in all controls. Many children with meningomyelocele showed only the ipsilateral component. Again, these results suggested reduced regional transcallosal connectivity in these children. 

In the third study, Dr. Rezaie presented assessments of language and reading in children with meningomyelocele and controls. On a word reading 

task, controls exhibited significantly greater engagement in the left hemisphere, whereas children with Spina Bifida demonstrated more bilateral 

activation. This difference was especially apparent in the middle temporal 

gyrus. There were no differences on a language task that required listening 

to words. Since children with meningomyelocele are often proficient word 

decoders, these findings suggests that bilateral activation, even when it 

involves greater activation of the right middle temporal gyrus, is a compensatory pattern that supports proficient word recognition.

First World Congress on Spina Bifida Research and Care 89
In the second neuroimaging discussion, Dr. Khadar Hasan addressed the application of diffusion tensor imaging (DTI) to children with Spina Bifida. He 

described how diffusion tensor imaging is conducted and analyzed, emphasizing that it is a method for assessing the diffusion of water molecules in 

the brain that is particularly sensitive to the integrity of cerebral white matter. Dr. Hasan presented new applications of DTI that permit assessments of 

regional brain volumes as well as gray matter structures. Dr. Hasan showed 

that in some gray matter structures, such as the caudate nucleus, fractional 

anisotrophy is actually higher, which is suggestive of delayed or aberrant 

synaptogenesis. In addition, he showed reductions in both gray and white 

matter volumes. Dr. Hasan also presented assessments of several white fiber 

pathways including the corpus callosum and different association fibers, 

which demonstrated lower fractional anisotrophy consistent with reduced 

myelination. 

The third presentation by Dr. Jenifer Juranek discussed the application of 

voxel-based morphometry to MRI scans in children with Spina Bifida and 

controls. Dr. Juranek described a pattern of increased cortical thickness in 

the frontal lobes and reduced cortical thickness in the posterior regions. 

She also assessed cortical complexity in cortically thinned regions, showing 

that cortical complexity in the brains of children with meningomyelocele is 

markedly increased when thinning is greater. 

In the discussion, Dr. Marc Del Bigio presented a neuropathologist’s perspective. He noted the value of examining the brain from a quantitative 

neuroimaging perspective. However, he also noted that imaging only provides a window to the brain and that correlations of MRI assessments with 

post-mortem studies tend to be weak. Dr. Del Bigio emphasized the impact 

of hydrocephalus on the brain, noting that each time the ventricules expand 

and reduce, damage to the white matter likely occurs. He argued that in 

order to understand imaging changes, the complete history of shunt failure 

history is critical. He asked about the effects of ventricular enlargement on 

brain development, noting that enlarged ventricules in utero usually affects 

the germinal matrix and this affects on brain weight, synaptogenesis, and 

myelin production.

Psychosocial Factors

In the session on psychosocial factors in Spina Bifida, Dr. Grayson Holmbeck presented a series of studies that evaluated a biopsychosocial model 

of Spina Bifida. In presenting this model, he emphasized a developmental 

perspective on the adjustment of adolescents with Spina Bifida. He also 

discussed a multi-finality model that addressed why some children with 

Spina Bifida do well and others do more poorly when they have same starting point. He presented assessments of different models for psychosocial 

90 The Future is Now
adjustment in Spina Bifida, including a higher stress model, a strength of association model, an additional stress model, and differential developmental 

growth model. He also presented evidence in support of mediational models of adjustment (e.g., Spina Bifida status • neuropsychological functioning 

• social adjustment). The evidence supported a disruption-resilience model 

of adjustment in which family support ameliorated some of difficulties associated with Spina Bifida, but that lower social class was an exacerbating 

factor for some families of youth with Spina Bifida. Finally, he presented a 

model that is being tested in a new study that examines neuropsychological 

functioning and peer relations in youth with this condition. 

Dr. Heather Taylor presented a study evaluating the impact of parenting 

and motor skills on the development of cognitive, language, and daily living 

skills in inference in children with Spina Bifida and controls from 6 to 36 

months of age. Dr. Taylor reported that the development of motor abilities 

was associated with cognitive, language, and daily living skills, with children 

who showed better motor development scoring higher on all domains. In 

addition, higher quality of parenting was associated with higher levels of 

development and faster growth in cognitive skills. 

Dr. Melissa Bellin addressed issues related to the transition of adolescents 

and young adults with Spina Bifida into adulthood. Over 40% of a transition-age group of young adults indicated psychological distress. Factors 

related to individual, family, and environmental measures explained variability in psychological health. These rates of self-reported psychological 

distress are much higher than population rates in young adults. 

Posters

The poster session addressed a variety of issues related to neuropsychology 

and cognitive neuroscience in Spina Bifida. Dr. Jackson addressed the relation of the Chiari malformation to intellectual functioning. In a comparison 

of 30 patients with shunted hydrocephalus and 17 with no hydrocephalus, 

the people with no hydrocephalus scored higher on IQ and most cognitive 

measures. In addition, the people with no hydrocephalus generally performed within the average range. 

Dr. Andrew Zabel presented a poster regarding methods for quick and efficient clinic-based screening and monitoring that included assessments 

of executive functions, adaptive functions, processing speed, and working 

memory. He emphasized that the collection of neuropsychological data using 

measures that involve questionnaires was effective for clinic-based screening. 

Dr. Heather Taylor presented a study on early information processing in 

18-month-old infants with Spina Bifida and controls. An assessment of 

visual attention skills showed that attention difficulties observed in other 

First World Congress on Spina Bifida Research and Care 91
studies of school-age children with Spina Bifida can be documented in 

younger children as well. In addition, the findings supported the hypothesis 

that more impairment occurs in attention processes involving stimulus control and orienting than in response control and monitoring. 

Dr. Paul Cirino assessed different aspects of mathematics performance in 

children with meningomyelocele; significant differences occurred relative 

to controls in a number of mathematic abilities, but differences were most 

apparent on small sum problems. Math performance was accounted for by 

basic foundational skills involving fact retrieval as well as more conceptual 

aspects of math ability; the latter was closely related to reading ability. In a 

study of reaction time in children and adults with meningomyelocele, Dr. 

Maureen Dennis found that individuals with Spina Bifida were slower to respond than controls. The degree of difficulty increased as the reaction time 

test increased; no interactions occurred with age. 

Altogether, these three sessions provided new results and approaches to 

the assessment of children and adults with Spina Bifida. Dr. Fletcher noted 

the importance of insuring homogeneity within the sample, observing that 

only meningomyelocele is associated in a systematic way with malformations of the brain. Differences within children and adults with meningomyelocele also may be present depending on whether hydrocephalus is 

shunted. He highlighted Dr. Del Bigio’s discussion of the effects of recurrent 

hydrocephalus on the brain, noting that even children with arrested hydrocephalus who have never been shunted tended to show motor and cognitive 

difficulties. However, these difficulties are typically not seen in children 

who have Spina Bifida without hydrocephalus. This session featured contributions from eight different disciplines, highlighting the value of multidisciplinary approaches to research on complex neurogenetic disorders like 

meningomyelocele.

92 The Future is Now
Orthopedics

The Orthopedic Care of Children with 

Spina Bifida: What Have We Learned 

in the Past 30 Years?

Luciano Dias, MD

Professor, Orthopedic Surgery

Feinberg School of Medicine

Northwestern University

Medical Director

Motion Analysis Center

Children’s Memorial Hospital

Chicago, IL

Introduction

Without a doubt, the overall care of the child with Spina Bifida has 

changed considerably in the last 30 years, in particular, orthopedic 

care. Before we outline and discuss these changes, we should give credit to 

a number of outstanding pediatric orthopedic surgeons who established 

the basis for the care of Spina Bifida. I would like to give credit here to Drs. 

Mihran Tachdjian, Burr Curtis, Jack Banta, Earl Feiwell, J W Sharrard, Klaus 

Parsch, Malcolm Menelaus, Norris Carroll, Richard Lindseth and Douglas 

McKay. Their outstanding work for the last 50 years is well recognized.

Our involvement in Spina Bifida care started back in 1976 at the Children’s 

Memorial Hospital in Chicago. The team has been together for the last 33 

years. I would also like to recognize the leadership of Dr. David McLone in 

neurosurgery and Dr. William Kaplan in urology. In 1989, with the establishment of the Motion Analysis Center at Children’s, the use of this technology 

became an important tool in the decision-making process for the management of the patient with Spina Bifida. Table 1 lists the areas in which motion 

analysis has helped in the care of individuals with Spina Bifida. We will be 

discussing the benefits of motion analysis and how much we were able to 

learn about the Spina Bifida gait pattern and pathology and how much the 

use of gait analysis influenced our decisions for functional procedures. The 

knowledge obtained from gait analysis in the last 20 years has significantly 

changed our approach to some of the orthopedic pathologies. At the orthopedic division of The Children’s Memorial Hospital and at our Motion 

Analysis Center, an extensive number of research projects were undertaken 

resulting in the publication of numerous papers.

First World Congress on Spina Bifida Research and Care 93
Functional Mobility Scale

In 2004, Kerr Graham introduced the Functional Mobility Scale for patients 

with cerebral palsy. We have been using this classification for the last 5 years 

and we find it to be quite useful in Spina Bifida. Basically it classifies the patient according to their ability to walk with support or without support over 

three different distances: 5 meters, 50 meters and 500 meters. The child’s 

abilities are rated on a 6-point scale–see box. 

For instance, if a child with Spina Bifida is classified as a FMS 3,2,1 this 

means that the child can walk with forearm crutches for 5 meters, uses a 

walker up to 50 meters and beyond that a wheelchair. If another child is 

classified as a FMS 6,6,6 it means that the child can walk without support 

for 5 meters, 50 meters and 500 meters.

Functional Motor Level

We feel that it is more appropriate and easier to classify patients with Spina 

Bifida into four main functional motor levels, rather than using specific 

vertebral levels (like L4).

(1) The first functional level is the high lumbar-thoracic level in which the 

child lacks quadriceps strength, and may or may not have hip flexor 

power; this child will require a high brace such as a RGO or HKAFO for 

walking. In some instances, due to lack of trunk balance, walking ability 

is quite difficult and the high level child will then use a parapodium for 

standing. Most patients with a high level will be able to walk for short 

distances indoor and so would be classified as a FMS 2,1,1 or 2,2,1. Usually 

between the ages of 11 and 13 years, the child will elect to use a wheelchair 

for mobility because of the high energy costs of standing and walking. 

Exceptions, of course, are seen especially for the child without a ventricular shunt, or for a child who is not obese, has good upper extremity function and no joint contractures. These individuals can retain their walking 

ability for a longer time through adolescence and early adult life.

(2) The second functional level is the low lumbar. Here hip flexors, knee extensors and medial hamstrings are present. The child can walk with AFO 

braces and forearm crutches. Most walk at a speed of between 55-60% of 

normal. As an adult they typically will be classified in the FMS system as 

a 3,3,1.

94 The Future is Now
(3) The third functional level is the high sacral in which the gluteus muscles 

are present, but weak; the gastrocsoleus strength is below grade 3. These 

individuals require AFOs to stabilize the ankle and foot; they walk without support with a gluteus lurch that will be more or less severe according to the strength of the gluteus. Their walking velocity is about 70-75% 

of normal. As an adult they would be in the FMS classification a 6,6,6 

or 6,6,3. In our experience, about 94% of these children will retain good 

walking mobility as an adult.

4) The fourth functional level is the low sacral in which the gluteus muscles 

are strong; the gastrocsoleus is also strong, so they do not require AFOs. 

They walk without support and their gait is nearly normal or normal with 

the velocity being at 100%. Less than 5% of Spina Bifida children are classified as having a low sacral level.

Ventricular Shunt vs. No Shunt

Recent studies at our Motion Analysis Center have clearly shown that a child 

with Spina Bifida without a ventricular shunt walks faster and longer than a 

child with a shunt. Based on gait analysis parameters, the walking speed of 

the child without a shunt is 94.4% of normal; the walking speed of the child 

with a shunt, who has the same functional level, was 76.4%. This represents 

a 20% difference in speed, which is significant. We also found that the most 

important issue affecting the walking velocity is shunt infection and not the 

number of shunt revisions. When we examined sacral level children classified at the FMS 6,6,6 level, 71% were in the no-shunt group, while only 

55% were in the shunted group. Again, these numbers are quite significant 

statistically. We believe that neurosurgeons need to have strong, precise 

indications for treating hydrocephalus with a shunt. Clearly, child who has 

Spina Bifida without a shunt functions at a higher level than those who are 

shunted.

Crutch-walking: 4 Point vs. Swing-thru Gait

We had been taught that the 4 point gait is more functional than a swingthru gait. So, years ago we undertook a study at MAC; this study showed 

that the swing-thru gait is 33% faster than the 4 point gait and, what is even 

more important, the swing-thru gait is 33% more efficient (less oxygen cost) 

than the 4 point gait. In addition, studies done on upper extremity pain in 

adults with Spina Bifida have shown that the most common issues are shoulder problems related to patients using a wheelchair and not related with 

patients using crutches. In conclusion, the swing-thru gait is more efficient, 

faster and with lower energy cost.

First World Congress on Spina Bifida Research and Care 95
The Effect of Trunk Movement and Valgus Stress 

at the Knee Joint

Because of gluteus weakness, the child with sacral level meningomyelocele 

has excessive pelvic and trunk movement, the well-known gluteus lurch. In 

a study done at MAC, we were able to demonstrate clearly that a significant 

amount of valgus stress in the knee joint is related to the abnormal trunk 

movement. The only way to decrease this abnormal stress, which can lead 

to arthritis and knee pain in adult life, is with the use of forearm crutches. 

In so doing, the excessive pelvic movements and the excessive trunk lurch 

decrease. Based on these studies we have attempted to introduce some 

crutch-walking for long distances in the child with sacral level at an early 

age, advising that the use of crutches will prevent problems with the knee 

joint during adulthood.

AFO Brace

About 95% of patients with Spina Bifida do not have enough strength in the 

calf musculature to stabilize their ankle-foot during gait. For this reason 

they will require the use of solid AFO braces. Studies done at MAC, as well 

as at other centers, have shown that the use of the braces allows the ground 

reaction forces to be more normal, passing in front of the knee joint and 

in so doing, prevent a crouched gait which, as we know from the energy 

standpoint, is quite ineffective. Previous studies have shown that an excessive external tibial torsion of more than 20 degrees will prevent the AFO 

from achieving full extension of the knee at mid-stance. For this reason, and 

others on which we will comment later, surgical treatment of external tibial 

torsion is indicated when greater than 20 degrees. Unlike the child who has 

cerebral palsy child, there is no place for hinged AFO braces in the child 

with Spina Bifida. The use of the AFO also allows a more normal firing of 

the musculature above the knee, in particular the vastus and rectus muscles. 

As mentioned earlier in our presentation, the use of gait analysis has provided us with a major insight for the gait patterns in Spina Bifida, especially 

children with a low lumbar or sacral level. We have learned, for instance, 

that the excessive pelvic rotation is an attempt to increase stride length and 

any time that this pelvic rotation is decreased, it may affect the child’s walking ability. Therefore, in patients with low lumbar and sacral levels, a spinal 

fusion down to the sacrum will affect the child’s gait and, in some children, 

will take away their walking ability.

Another important lesson from the use of gait analysis concerns the muscles 

that generate power when walking, in particular the gastrocsoleus, gluteus 

96 The Future is Now
and hip flexors (iliopsoas). Since most children with Spina Bifida do not 

have good gastrocsoleus strength and the gluteus muscles are weak, they 

need to have strong hip flexors. Any surgery that takes away this flexor 

power will make gait more difficult. Thus, the iliopsoas transfer (the Sharrard procedure that was quite popular in the 70s) is a procedure that should 

not be used in Spina Bifida since it will considerably decrease the hip flexor 

power and make walking more difficult (Duffy).

Hip Dislocation and Subluxation in the Child 

with Low Lumbar Level

It is taught during orthopedic training that the treatment of a dislocated hip 

is surgical reduction with bone procedures at the pelvis and femur. So, for 

many years in the past hip dislocations in Spina Bifida were treated surgically and in some instances and, I must say, even quite frequently, with very 

poor functional results and somewhat fair radiological results. Back in the 

late 70s, Feiwell at Rancho Los Amigos emphasized that children with Spina 

Bifida with a dislocated hip did not require surgical relocation. It was more 

important to have a normal or nearly normal range of motion, i.e., a hip free 

of contractures. The work in Philadelphia by Ames also supported Feiwell’s 

statements.

In the 90s at MAC we undertook a retrospective study of gait in individuals 

who had low lumbar level with a unilateral dislocation of the hip. We found 

that the gait symmetry was present when the dislocated hip had a nearly 

normal range of motion; however, gait asymmetry was present if the hip 

had either a flexion or adduction contracture. Clearly this study well documented Feiwell’s statements in the late 70s, that the hip motion was more 

important than the dislocation of the hip. For the last 15 years we have taken 

a very conservative approach to the dislocated hip in the child with low 

lumbar level. If a contracture(s) is present leading to an asymmetrical gait, 

surgical correction of the contracture(s) is done, using a procedure such as 

an adductor myotomy or hip flexor lengthening and, occasionally in a more 

severe deformity, a valgus osteotomy of the proximal femur. However, we do 

not feel that there is a need to surgically relocate the hip. On the other hand, 

for the sacral level child who presents with a unilateral dislocation where 

the gait asymmetry is quite severe and the gluteus lurch on the located side 

also is quite severe, we feel, based on the knowledge from the gait analysis, 

that surgical relocation is indicated through pelvic procedures such as the 

Dega osteotomy and the varus derotation osteotomy of the proximal femur. 

However, it must be said that no papers have been published to substantiate 

this latter statement.

First World Congress on Spina Bifida Research and Care 97
Crouched Gait

A crouched gait is quite common in Spina Bifida secondary either to a 

combination of hip flexion and knee flexion contractures or to an excessive 

external tibial torsion (over 20 degrees). The knee flexion contracture in 

Spina Bifida develops gradually. Most of these children have weak gastrocsoleus and weak gluteus muscles. They walk with a mild degree of knee flexion 

initially. With time, the posterior knee capsule gets tighter and shorter and 

the crouched gait becomes more severe, usually between the ages of 10 to 14 

years. We found that the degree of flexion contracture at the knee on the examining table doubles when the patient is walking. For instance, if a patient 

has a knee flexion contracture of 20 degrees, during gait the knee will be in 

a flexed position at mid-stance at 40 degrees. A 40 degree crouched gait is 

very inefficient and the oxygen cost is quite high, usually 40% more than 

normal. Therefore, surgical treatment for the crouched gait is indicated 

when a knee flexion contracture is about 15 to 20 degrees or greater. A posterior capsulotomy is required in order to achieve full extension. The posterior 

cruciate ligament is left intact. If any contracture of the medial hamstrings 

or biceps is present, a selective lengthening is also indicated. A recent study 

at our Motion Analysis Center has shown an average improvement of at 

least 20 to 25 degrees when this surgery is performed. Occasionally, in an 

older patient who has a low lumbar or sacral level with a severe knee flexion 

contracture, a supracondylar osteotomy of the femur may be required in 

addition to the knee flexor release. We do not have any experience with the 

patellar advancement procedure that is used in patients with cerebral palsy.

Valgus Stress at the Knee Joint

Valgus stress at the knee joint in Spina Bifida is quite common in the low 

lumbar and sacral level, especially the sacral level child who walks without 

support. As mentioned before, the excessive pelvic/trunk movement is a 

major cause of this stress. The valgus stress is multi-factorial. A number of 

deformities can increase the stress including: (1) excessive pelvic rotation; 

(2) abnormal trunk movement; (3) femoral antetorsion; (4) knee flexion 

contracture; (5) external tibial torsion; (6) valgus deformity of the hindfoot. 

The use of gait analysis, especially the kinetics can demonstrate quite clearly 

this abnormal internal varus moment at the knee. When present, surgical 

treatment is indicated such as a derotation osteotomy of the tibia, a knee 

flexor release, and correction of the hindfoot valgus with a medial sliding 

osteotomy of the os calcis. For the excessive pelvic rotation and trunk movement, the only solution is the use of external support, i.e., crutches. Derotation osteotomy of the tibia for either excessive external or internal tibial 

torsion should be done over the age of 5 years. We recommend that the 

osteotomy be done in the distal third together with a fibular osteotomy; we 

also advise the use of internal fixation with a DCP AO plate. Complications 

98 The Future is Now
can occur such as delayed union and wound dehiscence. A very well planned 

surgical procedure and post-operative care is important.

Foot Deformities in Spina Bifida

To conclude, I would just like to give a few thoughts about foot deformities 

in Spina Bifida. About 95% of children with Spina Bifida will have some type 

of foot deformity. In some it is mild and does not require any surgery. Others will have severe deformities requiring surgical treatment. The main goal 

of our treatment for foot deformities is to have a flail, flexible, plantigrade 

and braceable foot. Whenever possible, any kind of fusion such as a subtalar 

joint fusion or triple arthrodesis should be avoided. For established, severe 

bone deformities osteotomies can be done in the hindfoot and midfoot 

area, while still preserving motion at the joints. For contractures, simple 

tenotomies with tendon excision can be performed. Rarely should a tendon transfer be done unless the child has a low sacral level and is walking 

without AFOs. The most common foot deformities are talipes equinovarus 

(TEV) and the calcaneovalgus foot. For TEV the procedure to achieve full 

correction is the posteromedial-lateral release through a Cincinnati incision. For the calcaneovalgus foot, the anterolateral release is a quite effective 

procedure. For the cavus or cavovarus deformity, which is more common in 

patients with lipomeningocele , bone procedures such as the Dwyer calcaneus osteotomy, the cuboid osteotomy and medial cuneiform osteotomy 

in association with soft tissue procedures can achieve a very braceable and 

plantigrade foot.

Ankle Valgus and Hindfoot Valgus

A common deformity seen in Spina Bifida is valgus deformity of the ankle 

joint; this is related to a gradual shortening of the fibula. With the lack 

of lateral support at the ankle, the distal tibial physis develops in a wedge 

shape. This leads to the development of a valgus deformity at the ankle. At 

the same time, quite frequently the valgus at the ankle is also associated 

with a valgus deformity of the hindfoot. A very effective procedure for correcting the mild to moderate degree of ankle valgus is the hemi-epiphysiodesis with a cannulated screw and, for the hindfoot valgus, the medial 

sliding osteotomy of the os calcis is the procedure of choice. In order to 

prevent pressure problems from the brace, we must have some flexibility at 

the joints, ankle, subtalar and midfoot joints. Again, this is why the arthrodesis will make the foot too rigid resulting in a higher incidence of pressure 

problems.

In summary, we have been able to outline most of the areas in which orthopedic care has changed in the last 30 years. I want to emphasize one more 

time the value of motion analysis for achieving a better understanding of 

First World Congress on Spina Bifida Research and Care 99
the Spina Bifida gait pattern and thus improved decision-making in the 

selection of procedures that will improve function and not just improve the 

radiological picture.

References

 1. Guille JT, Sarwark JF, Sherk HH, Kumar SJ. Congenital and developmental deformities of the spine in children with myelomeningocele. J 

Am Acad Orthop Surg 2006;14:294-302.

 2. Neuromuscular disorders, in: Tachdjian’s Pediatric Orthopedics, J. 

Herring, ed., Saunders Elsevier, Philadelphia, 2008, pp. 1405-1453.

 3. F rawley PA, Broughton NS, Menelaus MB. Incidence and type of 

hindfoot deformities in patients with low-level Spina Bifida. J Pediatr 

Orthop 1998;18:3:312-3.

 4. Dias LS, Stern LS.: Talectomy in the treatment of resistant talipes 

equinovarus deformity in myelomeningocele and arthrogryposis. J 

Pediatr Orthop 1987;7:39-41.

 5. Dunt eman RC, Vankoski SJ, Dias LS. Internal derotation osteotomy of 

the tibia: pre- and post-operative gait analysis in persons with high 

sacral myelomeningocele. J Pediatr Orthop 2000;20:623-8.

 6. Dias LS, Jasty MJ, Collins P. Rotational deformities of the lower limb 

in myelomeningocele. J Bone Joint Surg 1984;66:215-223.

 7. Fraser RK, Menelaus M. The management of tibial torsion in patients 

with Spina Bifida. J Bone Joint Surg Br 1993;75:495-497.

 8. Sher k HH, Ames MD. Functional results of iliopsoas transfer in myelomeningocele hip dislocations. Clin Orthop 1978;137:181-186.

 9. Feiwell E, Sakai D, Blatt T. The effect of hip reduction on function in 

patients with myelomeningocele. J Bone Joint Surg 1978;60:169-173.

 10. Sherk HH, Uppal GS, Lane G, et al. Treatment versus non-treatment 

of hip dislocations in ambulatory patients with myelomeningocele. 

Dev Med Child Neur 1991;33:491-494.

100 The Future is Now

Table 1. 

 1. Reciprocal and swing gait in Spina Bifida

 2. Ener gy cost on distance of walking for the high level, low lumbar 

and sacral level children

 3. Trunk kinematics and knee valgus stress

 4. Knee valgus stress and its relationship with external tibial torsion

 5. Crouched gait: surgical treatment and results

 6. The effect of shunt and no shunt on the walking velocity and 

FMS classification

 7. Rotational deformities of the femur

 8. Rotational deformities of the tibia

 9. The Shanz valgus osteotomy for hip dislocation in Spina Bifida

 10. Unilateral hip dislocation in the low lumbar level

 11. Results of surgical treatment for clubfoot deformities

 12. Results of surgical treatment for calcaneus deformity: 

the anterolateral release

 13. Surgical treatment for vertical talus

 14. Talectomy: surgical results

 15. Foot deformities in lipomeningocele

 16. Fibular growth and ankle valgus

 17. Surgical treatment for hindfoot valgus: the medial sliding osteotomy of the os calcis

 18. Knee flexion contractures and surgical treatment

 19. Knee extension contractures and surgical treatment

 20. Hip dislocation/subluxation in the low lumbar level

 21. Surgical treatment for external tibial torsion

 22. Surgical treatment for internal tibial torsion

 23. Shunt revisions and their effects on gait

 24. Tethered cord: surgical results

 25. Kyphosis: natural history

 26. Surgical treatment of kyphosis

 27. Surgical treatment of scoliosis

102 The Future is Now
Meeting of the Section on Orthopedics

General Themes

The care of children with Spina Bifida and musculoskeletal problems continues to evolve. Major themes presented included the increasing use of 

motion or gait analysis, the need for improved evidence-based literature, 

and the awareness and prevention of musculoskeletal problems encountered by patients transitioning into adulthood. Presentations on gait 

analysis (including the plenary lecture) from two centers provided different perspectives on the role of gait analysis for clinical evaluation, decisionmaking, and evaluating outcomes of therapeutic procedures. The use of 

motion analysis in Spina Bifida as a research tool has provided objective 

assessment for our interventions. The body of literature using the highest 

grades of evidence-based interventions (levels of evidence and grades of recommendation) for musculoskeletal disorders such as hip dislocations and 

spinal deformities in meningomyelocele remains limited. To date no randomized clinical trials for orthopedic interventions in Spina Bifida has been 

published. Spina Bifida is no longer a “disease of childhood” as this unique 

patient population transitions into adulthood. Coordination of care including education to promote independence must begin long before adulthood 

is reached. Orthopedic treatments during childhood have long-term implications for and impact upon quality of life issues for adults. 

Historical Perspective

Recent advances in the orthopedic management of Spina Bifida are best 

understood in a historical context. This perspective was given in the presentation entitled, The History of Orthopedic Care and Spina Bifida by Jack 

V. Banta, MD. Innovations and advances in surgical care have depended on 

the close collaboration between orthopedists and neurosurgeons. These 

include the development of the ventricular shunt to control hydrocephalus 

and the recognition of neural pathology such as tethered cord and syringomyelia. Early treatment strategies for hip dislocation in Spina Bifida targeted 

the same techniques used for developmental dysplasia of the hip (DDH). 

However, lack of sensation in children with Spina Bifida led to poor results. 

Recognizing the relative importance of hip stability versus mobility has led 

to a reversal in surgical philosophy. Evolving from the polio era, treatment 

strategies such as arthrodesis of an insensate extremity resulted in Charcot 

changes in adjacent joints in children with Spina Bifida. 

The early concept that the “quadriceps is the passport to ambulation,” based 

on the contributions of Williams and Menelaus from the Royal Children’s 

Hospital in Melbourne, Australia, is now recognized as only applicable to 

the first decade of life. The basic tenets of orthotics for ambulation include 

First World Congress on Spina Bifida Research and Care 103
low energy cost at a reasonable rate of speed (at least 30% to 60% of normal 

for age), independence in donning and doffing the braces, and independence with transfers. The priority of walking changes as children enter adolescence and the concept of efficient mobility (e.g., wheelchair ambulation 

being less energy demanding) takes precedence over independent ambulation. The treatment of spinal deformities in meningomyelocele has made 

significant progress since the introduction of Harrington instrumentation 

fifty years ago. Advances in both anterior and posterior spinal instrumentation such as pedicle screw fixation have improved the outcomes for scoliosis 

and kyphotic deformities. 

Gait Analysis

The routine use of gait analysis in meningomyelocele is relatively new. In addition to the plenary lecture, Jeff Thomson, MD provided key points in the 

management of ambulatory patients in his presentation, Motion Analysis 

Today for Patient Evaluation and Decision-making. Gait analysis has been 

beneficial in surgical decision making, provides objective information on 

pre-operative abnormalities, and allows for the post-operative assessment of 

orthopedic interventions, including the use of orthotics and surgical procedures designed to improve a child’s overall gait and energy efficiency. It is 

thought to be the best tool we currently have to measure outcomes. Hip abductor weakness impacts a person’s ambulatory skills more than quadriceps 

weakness. Excessive motion of the pelvis in all three planes, as a result of hip 

abductor weakness, results in decreased function of the lower extremities 

and the knee in particular. Increased truncal lean produces a ground reaction force lateral to the knee, a net adduction knee moment and a kinetic 

knee valgus thrust that could result in premature degenerative changes. 

Ankle foot orthoses (AFO’s) may increase transverse plane motion, and gait 

analysis has shown that the use of crutches and higher bracing above the 

knees sometimes are necessary in ambulatory patients. Gait analysis has 

been important in recent studies evaluating surgical procedures such as 

rotational osteotomies for dysfunctional lever arm, hip surgery, and tendon 

transfers about the ankle. 

Physical Therapy

Colleen Krombach, PT, presented Physical Therapy: Advances in the Evaluation and Treatment of Meningomyelocele. The importance of the manual 

muscle test (MMT) was emphasized in the presentation. Monitoring the 

motor examination annually can be invaluable in detecting any deterioration in CNS function, determining muscle imbalance and, potentially, identifying a tethered cord. Asymmetry in the MMT is suggestive of a tethered 

cord, whereas a symmetric decrease in the MMT is more consistent with 

shunt problems. 

104 The Future is Now
Surgical Procedures

The controversial subject of hip surgery and the lack of evidence-based 

guidelines for orthopedic interventions in Spina Bifida was presented in 

depth by James Wright, MD from the Hospital for Sick Children in Toronto. 

A thorough literature review failed to find a single randomized clinical trial 

(RCT) for orthopedic studies in Spina Bifida. The five levels of evidence and 

the four grades of recommendation used to evaluate peer-reviewed papers 

were applied to the current literature on hip and spine surgery in meningomyelocele. The World Health Organization International Classification of 

Function provides a method of assessing whether treatments like hip and 

spine surgery improve function. The majority of studies were retrospective 

and not long-term. Based on studies with levels of evidence of one to three, 

the overall recommendations for both hip and spine surgery were grade B. 

Evidence was insufficient to determine if reduction of unilateral hip dislocations improved function. Also, an all pedicle screw approach for spinal 

deformity was found to have insufficient evidence to support its efficacy in 

the current body of literature. 

Conklin et al. [1] reported on the incidence of ventriculo-peritoneal (VP) 

shunt failure following extradural spinal procedures. The authors found 

that four patients (20%) required a shunt revision within 12 months, while 

one patient required shunt revision within three months. Their data suggest that extradural surgery, unlike intradural surgery, is not associated 

with an increased rate of shunt failure. Martin et al. [2] reported a higher 

rate of complications (35%) and revisions (31%) than previously had been 

described in ambulatory patients with lumbar level MMC following tibial 

rotational osteotomies.

Hip Surgery

Emlinger and Mazur [3] presented a meta-analysis on the efficacy of treatment for hip dysplasia in ambulatory children with meningomyelocele. 

Forty-seven papers published between 1964 and 2008 that had a level of 

evidence of grade 4 or higher were reviewed. In patients with motor levels 

of L3 or higher (thoracic/high lumbar), 33/37 papers recommended against 

treatment except for soft tissue release due to high complication rates; no 

difference in ambulation was found in dislocated vs. reduced hips, and 

energy expenditure for ambulation was high. In patients with L4 or below 

(low lumbar/sacral) 28/41 papers recommended hip reduction to help balance muscle forces, maintain reduction, and to develop more normal hip 

anatomy and mobility for ambulation. Thirteen of the published articles not 

supporting hip reduction cited the potential surgical risks and complications, the potential for further weakening hip musculature, and the finding 

that dislocated hips had little effect on ambulation compared to surgically 

First World Congress on Spina Bifida Research and Care 105
reduced hips. For unilateral hip dislocations, three papers advocated hip reduction as a way to reduce the subsequent risks of limb length discrepancy, 

pelvic obliquity, and scoliosis. Controversy still remains concerning the best 

approach for the management of hip dysplasia in patients with meningomyelocele. 

Scoliosis and Kyphosis Repair

B. Stephen Richards, MD, presented advances in the management of scoliosis. A recent study by Wai et al. [4] discussed by both Dr. Wright and Dr. 

Richards, evaluated function and deformity following spine deformity in 

meningomyelocele. The benefits of surgery included improved sitting balance, fewer pressure sores, and, questionably, the avoidance of pulmonary 

problems. However, the paper also noted that no relationship existed between the Cobb angle and function, and that surgery did not improve overall 

function based on the Activities Scale for Kids (ASK) questionnaire. The paper put into perspective the need for careful patient selection, and the need 

to thoughtfully weigh the benefits vs. risks for each patient. Surgery should 

Child’s walking ability:

1. Uses wheelchair, stroller or buggy

2. Uses K-Walker or other walking frame without help from 

another person

3. U ses two crutches without help from another person

4. Uses one crutch or two calipers without help from 

another person

5. Independent on level surfaces: does not use walking aids 

or need help from another person

6. Independent on all surfaces: does not use any walking 

aids or need any help from another person when walking, 

running, climbing and climbing stairs 

be avoided in patients who are functionally ambulatory with lumbar scoliosis, and individuals with extensive posterior scarring and rigid deformities 

with abnormal posterior elements. Pre- and intra-operative traction should 

be considered for rigid curves greater than 100 degrees. Also anterior fusion 

should be considered and may take on additional importance to maintain 

correction if the posterior instrumentation becomes infected and requires 

removal to control and eradicate the spinal infection.

106 The Future is Now
The benefits of correcting sagittal plane spinal deformity in meningomyelocele were addressed by John Sarwark, MD in his presentation, Advances in 

the Management of Kyphosis. Uncorrected kyphotic deformity may result 

in the reduction of the anterior abdominal wall that may make urinary 

diversion procedures more difficult. Severe kyphosis also may compress the 

abdominal contents upward, potentially limiting pulmonary function and 

result in the recently described secondary thoracic insufficiency syndrome. 

Costo-pelvic impingement may also occur from severe kyphotic deformities. The optimal age to consider surgery is when the children are younger, 

when the benefits outweigh the risks. The technique has previously been 

described by Nolden et al. [5] Preserving the thecal sac, decancellation of 

the apical vertebral bodies, instrumentation distally to the sacral alae with 

limited arthrodesis decreased morbidity and allowed continued growth of 

the thoracic spine. 

Adult Care

As with many other conditions that we treat, it cannot be overemphasized 

that Spina Bifida is not a “disease of childhood.” Shubra Muhkerjee, MD, 

emphasized the importance and timeliness of this statement in her presentation, Coordination of Care and Transitioning of Children with Meningomyelocele. Education as part of care coordination should begin early before 

the critical adolescent phase. Preventive measures should be directed to 

minimize the risks of obesity, pressure sores, and to maximize functional 

independence. Children by the age of twelve years should be well versed 

in their own care and independence. A new concern noted among adult 

patients with Spina Bifida is lymphedema. The cause of lymphedema is 

unclear; no signs of deep venous thrombosis are present. Presently the treatment requires the careful use of compression stockings. Specific orthopedic 

issues for adults include achieving a plantigrade foot in non-ambulatory 

patients, and proper fitting orthotics to address valgus deformities of the 

knee and ankle in adult ambulatory patients. 

First World Congress on Spina Bifida Research and Care 107
Future Directions for Research and Care

1. E vidence-based treatment guidelines 

Current treatment guidelines for musculoskeletal problems in meningomyelocele are based on only a few studies that have higher levels of evidence. 

The external demand for evidence-based outcomes and increased awareness 

of the need for well-designed clinical studies such as prospective multi-centered studies, should improve the quality of research. 

2. Gait analysis as a clinical and research tool 

Gait analysis remains the best objective tool to measure present and future 

therapeutic orthopedic interventions. Evidence-based studies using gait 

analysis provide better-defined treatment guidelines. Improvement in the 

reliability and validity of gait analysis should increase their acceptance for 

more widespread use. Functional analysis of alternative forms of mobility 

and movement used by children and adults (wheelchair ambulation, stair 

climbing, sit to stand) is an important future direction of research in meningomyelocele.

3. Transitioning to adulthood 

The body of literature addressing musculoskeletal issues in the adult patient 

with Spina Bifida is quite sparse. Future research should identify and define 

the musculoskeletal problems confronting adults, examine treatments used 

during childhood and their effects on adults, and develop strategies to prevent orthopedic problems in adults. 

108 The Future is Now
Developmental Pediatrics

Health Care and Spina Bifida: 

The Canary in the Coal Mine

Gregory S. Liptak, MD, MPH

Professor of Pediatrics

Director, Center for Development, Behavior and Genetics

Upstate Medical University

750 East Adams Street

Syracuse, NY 13210

Email: LiptakG@upstate.edu 

Introduction

This presentation was inspired by the deaths of two young adults with 

Spina Bifida that occurred in the past year, as well as the care of several 

adults in regional hospitals. The first death occurred in a 29-year-old man 

who had thoracic level meningomyelocele with shunted hydrocephalus. 

He graduated from high school, attended a community college for a year, 

and then lived with his parents. He developed a relationship with a young 

woman and moved away from home in an apartment that was supported by 

his family, his ‘significant other’ and payments from the SSI (Supplemental 

Security Income) program. His romance failed, though he continued livFirst World Congress on Spina Bifida Research and Care 109
ing in the apartment by himself after his companion left him. He became 

depressed and developed a decubitus ulcer that was not identified early. The 

ulcer became infected, he developed osteomyelitis, and subsequently died 

from sepsis. 

The second death occurred in a 27-year-old woman who had thoracic level 

meningomyelocele, shunted hydrocephalus and obesity. She had sustained a 

pulmonary embolus after urological surgery when she was 19-years-old and 

was maintained on anticoagulants. She lived at home with her parents. She 

died from hemorrhage, presumably related to an adverse interaction between ibuprofen and warfarin.

Meanwhile, a urologist in a nearby community told a young adult that she 

does not screen adults with meningomyelocele for bladder cancer because 

“she does not believe that it is a major concern.” Around the same time, an 

adult with meningomyelocele was admitted to a community hospital with 

new onset headache with neck pain. The neurosurgeon interpreted the pain 

as radiculopathy and did not consider the possibility of shunt malfunction. 

Canaries in Coal Mines

Coal mines are dangerous places, subject to gases like carbon monoxide and 

methane, which are potentially fatal but cannot easily be detected. From the 

mid 19th century to the mid 20th century (1986 in the UK [1]) canaries were 

brought down into coal mines in the United States and United Kingdom 

to warn the miners of unsafe conditions. Canaries are much more sensitive 

to carbon monoxide than humans [2]. The miners would observe the birds 

as they worked. If the canaries stopped singing, became unsteady on their 

perches or died, the miners immediately would evacuate the shaft. 

Spina Bifida

Meningomyelocele (Spina Bifida) has been described as ‘the most complex 

birth defect compatible with life” [3]. Individuals with this condition have 

impairments of the spine (e.g., scoliosis), spinal cord (e.g., neurogenic bowel 

and bladder, sexual dysfunction, paralysis and decreased sensation), and 

brain (e.g., hydrocephalus, Chiari II malformation with hypoventilation, 

seizures, strabismus, learning disabilities) [4]. Furthermore, children do not 

‘outgrow’ these impairments or disabilities. As Woodhouse noted, “Sadly, 

nothing in Spina Bifida gets better with age.” [5] In an evaluation of adolescents and young adults (AYAs) with Spina Bifida, we [6] found that the 

percent reporting excellent health decreased from 29%, when their average 

age was 15 years (Wave 1), to 11% four years later (Wave 3); 44% of the sample 

who had reported excellent health at Wave 1 reported fair or poor health at 

Wave 3. These findings are troubling, especially since health and well-being 

110 The Future is Now
typically do not decline during adolescence and young adulthood in people 

without a chronic condition. Previous studies also reported declining health 

among young adults with Spina Bifida. For instance, Guarnieri and Vinchon 

[7] found that adults lost ambulation and continence and developed renal 

failure as well.

The thesis of this paper is that canaries in coal mines are analogous to 

people with Spina Bifida in the healthcare system. People with Spina Bifida 

are more sensitive to changes in the healthcare environment, and the current medical environment is dangerous and becoming more so. They are 

bellwethers for outcomes of care that will be coming to the rest of society.

Changes in the Care of People with Spina Bifida

In the 1950s an effective ventricular shunt system was developed by Holter 

and Spitz [8]. At that time the ileal conduit was the standard for urological 

care until Lapides’ [9] paper on clean intermittent catheterization. Prior to 

the 1960s, many newborns with Spina Bifida in the USA and UK were not 

treated surgically; many who were had complications including shunt infections and mental retardation. Because the prognosis was felt to be so poor, 

Lorber [10] recommended criteria for deciding who to treat and who to allow 

to die; this approach eventually was abandoned. Figure 1 shows survival by 

year of birth for four cohorts of children; the 30-year survival in the Hunt 

and Oakeshott cohort was only 50% [11]. 

Table 1 lists changes in the treatment of individuals with Spina Bifida since 

the 1970s. Significant technological improvements in care have improved 

survival, although the improvements seem to be smaller with every cohort 

(see Figure 1). Also, significant variations in the treatment of people with 

Spina Bifida exist, reflecting uncertainty and disagreement about standards 

of care. For example, Zegers et al. [12] reported, “The responses from 41 centers in 14 European countries confirm that . . . there is no consensus among 

European centers in terms of protocols for preventing, diagnosing and 

treating UTIs in children with NBSD [neurogenic bladder sphincter dysfunction] and for CIC [clean intermittent catheterization].” Also, the effects 

of care on quality of life, daily activities and social participation are not well 

established. For instance, studies examining the effects of enterocystoplasty 

have not been uniform or always of the highest grade. According to Scales 

et al. [13], “Almost all studies are retrospective, single institution case series 

of a relatively small number of patients. Few uniform or validated outcome 

measures for enterocystoplasty exist. . . . Interinstitutional variability in urodynamic measurements and in definitions of continence make comparisons 

of outcomes difficult.” 

First World Congress on Spina Bifida Research and Care 111
Outcomes in adults with Spina Bifida continue to be less than optimal. For 

example, in a study of Dutch AYAs, where the mean age was 21 years, only 

16% were living independently, more than one-third went to special secondary education, 53% of those who finished education did not have a regular 

job, and 71% did not have a partner [14].

Health Care in the United States

Health care in the United States has been described as medical care delivered through a patchwork of public and private entities and paid for by 

another patchwork of public and private insurers [15]. Insurance coverage 

is usually tied to the workplace or to government programs that often seem 

Byzantine in their intricacy. The current fee-for-service system is based 

on encounters with patients and favors volume; the focus is on illness not 

wellness. Acute care interventions and procedures are rewarded financially 

rather than prevention or longer chronic care interventions. According to 

Gladwell [16], “The United States has opted for a makeshift system of increasing complexity and dysfunction.” 

Government insurance often pays less for care than private insurers. For example, according to the Wall Street Journal, “Currently, Illinois payments to 

such specialists are so low—estimated at 30% of what the care actually costs 

the doctors—that many pediatric specialists in Illinois refuse to treat indigent Medicaid children.” [17] In many communities it is extremely difficult if 

not impossible to get certain specialty care, like plastic surgery and gynecology, for children on Medicaid. [18].

Persons with disabilities who have health insurance often are unable to get 

equipment, supplies and services not covered by their plans. They experience more problems than others with follow-up care, availability of specialists, getting to doctors, and obtaining help during off hours. In order to save 

money, insurance plans may exclude individuals with disabilities like Spina 

Bifida, enrolling only healthier people. They may stint on care, denying necessary services to individuals who are enrolled. Both exclusion and stinting 

deny access to care for people with Spina Bifida. 

Because of the complexity of Spina Bifida, a multidisciplinary care model 

that provides care coordination [19] has been recommended. Several organizations, including the American Academy of Pediatrics [20] and the 

Spina Bifida Association [21], have advocated a multidisciplinary approach 

to these individuals. Although this has not been studied formally, it appears 

that programs providing multidisciplinary care to children with Spina Bifida 

are shrinking in size as providers, especially surgeons, find that they cannot 

justify their salary by working in these clinics. 

112 The Future is Now
Even though the impairments of Spina Bifida do not disappear, adults 

with Spina Bifida get relatively less health care compared to adults without 

chronic conditions than is the case with children. For example, Ouyang et 

al. [22] compared health expenditures for people with Spina Bifida to expenditures for people without Spina Bifida; while the ratio of expenses was 13 

in those from 1 to 17 years of age, it was only 6.3 in those aged 18 to 44 years. 

While AYA with Spina Bifida continue to need long-term follow-up by urologists, neurosurgeons, orthopedists, therapists, orthotists, and others, finding such experts who are willing and able to take care of adults is difficult 

[23]; finding programs that can coordinate their care is even more difficult.

Many countries currently are experiencing an economic recession; some 

hospitals are closing or laying off employees [24]. Because a multidisciplinary care program that treats people with Spina Bifida cannot make a 

profit or even break even, the threat to these programs, and to the healthcare of the individuals treated by them, have been magnified by the recession. Furthermore, in March 2009 the jobless rate in the USA exceeded 8%, 

the highest it has been in 26 years [25]. Because health insurance coverage 

is tied to employment, increasing unemployment means that fewer people 

and families will be covered by insurance. Thus, like coal mines, the healthcare environment is dangerous, with optimal care being increasingly difficult to find.

The Future

Table 2 lists some interventions that should improve the care of people with 

Spina Bifida in the near future. These interventions rely on technology and 

are not sufficient by themselves. A system of care is required to be able to 

deliver the complex care that people with Spina Bifida need and to integrate 

care within the community. An effective disease-management program [26] 

that uses evidence-based clinical practice guidelines and provides care coordination as well as integration with community systems of care is necessary 

to allow improvements in technical care to be delivered to people with Spina 

Bifida. 

The population in the United States is aging [27]C:\Documents and 

Settings\adarnley\Local Settings\Temporary Internet Files\Content.

Outlook\3S9FIZC9\[http:\www.ofm.wa.gov\pop\gma\default.asp] and individuals with Spina Bifida are surviving longer. However, more physicians are 

becoming subspecialists and hospitalists at the expense of general internal 

medicine [28]. Thus, it is not clear who will provide a medical home in the 

community for adults with Spina Bifida.

First World Congress on Spina Bifida Research and Care 113
Conclusions

Canaries warned coal miners of the dangers in mines. People with Spina Bifida are medically fragile, and, like the canaries, are warning us of problems 

with our healthcare system. It is one thing for a canary to die to warn others 

that conditions are dangerous. It is quite another for a child or young adult 

to die to warn us about our healthcare system. Our current system is unable 

to provide adequate treatment for everyone with Spina Bifida, coordinate 

care and achieve high quality outcomes [29-31]. Adolescents and young 

adults have declining health; young adults are dying. Yet, unlike the national 

program established for people with cystic fibrosis [32] we do not monitor 

even the death rates of people with Spina Bifida. The ability of the healthcare system to provide optimal care to people with Spina Bifida is a critical 

test of the system. There is of course the human concern; there also is the 

concern that the care that people with Spina Bifida receive now will be an 

indication of the care that the rest of us will receive in the near future. 

114 The Future is Now
Meeting of the Section on 

Developmental Pediatrics

Focusing on the common goal of improving the care provided to individuals with Spina Bifida, the Developmental Pediatrics session introduced both 

general and disease-specific concepts of chronic care management. Incorporating these strategies is currently difficult because of poor care coordination and limits on resources for health care utilization. In the past, the focus 

of discussion frequently was on acute management and the care of expected 

secondary conditions; insufficient emphasis was placed on preventive care 

or on care across the life span.

To address these broader issues, a series of questions were proposed as a 

framework to the panel of presenters:

• Is a disease management model applicable to Spina Bifida care?

• What can be learned from other conditions and how can these ideas be 

applied to this population and incorporated into their care? 

• What collaborative steps can be taken to provide optimal care for 

individuals with Spina Bifida?

Disease Management

The central goals of the traditional disease management model are, in 

order, to decrease cost and to improve health care. Decisions made using 

this model, however, should be based on a scientifically derived base of 

evidence. Additional goals to improve outcome and adherence to care plans 

are also essential. The impact of co-morbidities must also be considered in 

the model. Ideally, what results is a model of care that is timely, efficient, 

evidence-based and continuous. In the case of complex lifespan conditions 

such as Spina Bifida, there is an inherent struggle between the need for specialization and the need for integration. 

Within this care model, it is essential that individuals know how to manage their care for optimal results. Successful self management promotes 

autonomy and identifies the patient as the source of control for their health 

care. Optimal patient care includes integration of information from various sources and joint decision. Ideally, the resulting system is transparent, 

anticipatory and cooperative. Providing effective care requires developing a partnership with each patient, developing a care plan, coordinating 

First World Congress on Spina Bifida Research and Care 115
disparate systems to integrate their care, and providing patient education 

resources and delivery systems.

Common to disease management in any chronic condition are struggles 

with adherence to the plan of care, communication between provider and 

patient as well as between providers and outside sources. Knowledgeable 

providers need to evaluate environmental factors such as geographic location and issues related to transportation. Specific difficulties occur when 

implementing a disease management model for individuals with Spina Bifida. A decreasing number of programs adversely affects access. The patient 

population is aging; they are developing “adult diseases” that may be unfamiliar to pediatric providers. In addition the co- morbid conditions of their 

Spina Bifida (especially some of the cognitive differences) may be unfamiliar 

to adult providers.

One way to measure “success” within such systems of care is to look at 

specific outcomes through quality improvement initiatives: care delivery, access, hospitalization rates, complications, and mortality. Successful systems 

eliminate waste and are not solely focused on cost savings. Successful systems of care are inherently safe, having been designed to avoid errors, and 

promote early detection and prevention. They cannot be dependent only 

on the actions of individuals. Questions, however, remain: 1. Who will best 

monitor all of these activities? 2. Who decides what “better” care is? Other 

organizations (e.g., Cystic Fibrosis Foundation) have successfully advocated 

for assessment and implementation of care using specific criteria (process 

of care). Their structure includes the ability to measure and compare the results of changes made in providing care as well as who should provide such 

care. This systematic collection of data on a broad scale is in its very early 

stages for individuals with Spina Bifida through the ongoing Centers for 

Disease Control (CDC) Spina Bifida Association (SBA) Spina Bifida registry 

project.

Care guidelines have been developed for a number of chronic disorders. 

Many are based on expert opinion. Ideally, they should be accessible to 

providers, should direct inpatient and outpatient care, and should promote 

future research efforts. Such documents may be particularly important as 

individuals with chronic disease survive into adulthood. This component of 

an evidence based, disease management practice is already available to providers caring for individuals with Spina Bifida: Guidelines for Spina Bifida 

Health Care Services Throughout the Lifespan, which is available through 

the SBA. 

Successful disease management requires appropriate coordination of care. 

Unfortunately, no single definition of care coordination exists. Some would 

say that “they know it when they see it!” Nor does agreement exist on whose 

responsibility it is. By default, it often becomes the families or the individu116 The Future is Now
als themselves who takes on these tasks. Even in individuals with routine 

health care needs, care coordination is difficult. The current health payment 

system provides few incentives to coordinate care; increasingly providers 

are advocating for additional funding to provide this service. What may 

eventually make this possible for individuals with chronic health care needs 

and their providers is the concept of a Medical Home. To implement these 

ideas and meet these challenges, changes by patients and providers will be 

needed. However, change is hard. Effective communication and accurate 

outcome data is essential if this change is to be successful. 

What Can We Learn from Others?

Specific clinics for children with Spina Bifida have existed since the early 

1950’s (Wilmington Children’s Hospital). In many institutions, multidisciplinary clinics for children with Spina Bifida benefited not only those with 

Spina Bifida but also improved the quality and timeliness of care for other 

children with disabilities. Important innovations and observations originated in these Spina Bifida clinics. Many of these are now considered core 

care aspects including clean intermittent catheterization and avoidance of 

latex. Data collection and analysis on issues such as selective care of affected 

individuals and methods of delivery were the basis for better evidence based 

treatment decisions. The best example of a coordinated and evidence based 

project is the government sponsored MOMs study, which is evaluating the 

efficacy of prenatal surgery for meningomyelocele.

Cystic Fibrosis Foundation 

In looking for ways to improve the multidisciplinary models and processes 

of care delivery for individuals with Spina Bifida, it is important to look at 

the history of these efforts and to integrate those lessons with those from 

other chronic disease management models (e.g., cystic fibrosis). Since 1955, 

the Cystic Fibrosis (CF) Foundation has served numerous roles: accreditation, registry maintenance, guideline development, professional and patient 

education, research, and care innovations. The practical outcome of this 

process is to help identify and suggest interventions for systemic problems 

by sharing what the best clinics are doing. The recent Spina Bifida Association (SBA) effort to describe the levels of clinical care available at different 

locations across the country is a first step toward a similar system.

The CF Foundation has also demonstrated the need and value of a registry 

and the importance of patient care guidelines. Their registry systematically 

collects valuable information and documents variations regarding natural 

history, effectiveness of new therapies / innovations and quality of care using factor analysis. For this to be successful, clinics have to believe that the 

data are valid; enrollment and data collection must be complete, timely and 

First World Congress on Spina Bifida Research and Care 117
of the highest quality. SBA and the Center for Disease Control are currently 

piloting a patient registry for Spina Bifida. 

SBA Care Guidelines

The Spina Bifida Association recognized the importance of clinical care 

guidelines in 1990. With publication of the 3rd edition in 2006 of Guidelines 

for Spina Bifida Health Care Services Throughout the Lifespan, an effort was 

made to move away from opinion and toward data and levels of evidence as 

the basis of these guidelines. These are guidelines and not standards of care. 

The strengths of the current model include its brevity and standardized 

format, its functional and developmental orientation across the lifespan, its 

emphasis on continuity of care and its defining of functional outcome goals. 

A weakness is that it does not list the actual documents reviewed to make 

the recommendations.

For families, the guidelines could serve as an instrument to better understand the care delivery systems and the goals of that care. They could also 

be used as part of transition preparation and self care management training 

for adolescents and young adults. Primary care providers, especially adult 

focused providers, might use the guidelines as reference document for ongoing care. Numerous other proposed uses for the guidelines beyond clinical care have been suggested. Clinics might use them as a basis for seeking 

institutional funding or service support or as a basis for service payment. 

They could also be used for program evaluation: does a clinic follow the 

guidelines across the age ranges and does a clinic have all the necessary and 

recommended specialties?

The Medical Home

The Medical Home may be a viable model to provide continuous care and 

disease management for individuals with Spina Bifida across the lifespan. 

An excellent medical home effectively combines place, process, and people 

to allow a patient to receive effective care. It includes families, youth, and 

health care professionals in a system of care; it cannot successfully exist 

solely on the willingness of individual practitioners. Key requirements of 

this care model include communication and a family centered focus. In 

the medical home model, communication between primary care providers 

and specialists is emphasized. Specialty care should supplement and not 

supplant the primary care role. This model organizes assistance in a collaborative fashion and in accordance with each individual family’s wishes, 

strengths, and needs. The family is the unit of attention.

118 The Future is Now
Platform Presentations

The importance and contributions of successful centrally funded, multisite 

studies and advocacy by national organizations for Spina Bifida (SB) is clear. 

They allow implementation and assessment of care models based on objective measurements and data and not just anecdotal experiences. Quality 

care and management of individuals with Spina Bifida require the integration and cooperation of numerous specialties and a careful consideration 

of the entire individual and their family. Basic science and clinical research 

can each contribute to future improvements. Each of these core assumptions was quite apparent in the session’s platform presentations. Data from 

several multisite studies examined topics as divergent as mental health and 

bowel and bladder continence.

Mental Health

Brei et al. examined mental health from the points of view of the adult caregiver/parent as well as the adolescent/young adult (AYA). Both groups reported poor mental health adaptation over time, which could certainly have 

implications for successful transitioning to adulthood. The adult reporters 

associated mental health adaptation with neuropsychological deficits and 

lower socioeconomic status while AYA associated lower mental health adaptation with less positive adolescent beliefs and low family resourcefulness. 

Because perceptions and the factors associated with mental health adaptation outcomes vary between parent and AYA report, clinicians promoting 

positive mental health adaptation need to evaluate both groups. 

Bowel and Bladder Management

Urinary and bowel incontinence are nearly universal in individuals with 

Spina Bifida. Achievement of bowel and bladder continence is an important 

goal for children with Spina Bifida due to its far reaching impact on both 

physiologic and social outcomes. Continence is difficult to quantify and 

differences exist in definitions and acceptable degrees of wetness or numbers of accidents. Untreated, incontinence leads to significant limitations 

and participation in life activities. Achieving bowel and bladder continence 

enables full participation and significantly affects self-esteem and quality of 

life. Smith et al. utilized quantitative and quality of life qualitative methods 

to assess the effectiveness of selected bowel and bladder interventions on 

both physiologic outcomes and quality of life measures. A number of factors 

appeared to influence continence in their study: child and family participation in the prescribed program, environmental factors, medications 

prescribed, and surgical interventions. Freeman et al. found quality of life 

(QOL) scores were significantly lower for children with bowel incontinence 

First World Congress on Spina Bifida Research and Care 119
and, to a lesser extent, bladder continence based on parent report. Their 

results support the importance that continence status can have on participation in meaningful life activities for children with SB and how parental views 

of about continence are addressed. The structure and power of a multisite, 

centrally funded study allowed Merkens et al. to compare rates of bowel continence among medical and surgical treatment modalities, which has not 

been previously reported. Surgical treatment (antegrade enema instillation) 

was related to better functional continence. Children with bowel continence 

had higher QOL scores, as reported by either the child or parent.

Transition 

As a life span disease, Spina Bifida includes a host of sequelae that adversely 

impact QOL by limiting participation in typical activities. In developing 

a life span care model, management strategies that support transition and 

promote independence are essential. Preparing for transition to adulthood 

is not intuitive. For families raising a child with a disability, everyday life 

demands often take precedence over future planning. Curran et al. presented Bloorview’s Growing Up Ready framework [http://www.bloorview.

ca/resourcecentre/familyresources/growingupready.php]. This evidencedbased, comprehensive and auditable framework recognizes the central role 

of families in the process of growing up. When successful, service providers, families and youth work together using a Shared Management Model 

to gradually shift responsibility for daily life activities and decisions to the 

youth as developmentally appropriate.

Independence

Jones et al. presented strategies from their program in Australia. Their aim 

is to facilitate the development of competent, independent adults who will 

fully integrate into all aspects of their communities. Success requires that 

decisions regarding goal planning be made in conjunction with the health 

team members, the child, the family and others. The value of their approach 

is that it also improves therapy methods, clinical reasoning and the drive 

toward best practice. 

120 The Future is Now
Hypertension 

As a life span disease, Spina Bifida has some very specific sequelae that 

should also be considered. One example of this is hypertension. Children 

with Spina Bifida have many risk factors for hypertension (HTN) including 

neurogenic bladder, recurrent urinary tract infections, sedentary lifestyle, 

obesity and the presence of a shunt. Miller et al. identified 46% of their SB 

patients to be hypertensive, a rate significantly higher than the 8% prevalence in the NHANES controls making it a significant public health problem 

in this population. BMI was the only identified risk factor for HTN in their 

study.

Overuse Injuries

Gueron et al. reported that upper extremity overuse injuries in individuals 

with SB are not uncommon and their impact is significant. In addition to 

chronic pain and an inability to transfer independently, such injuries were 

also the cause of lost employment and independent housing. Individuals reported increased function and energy levels, with decreased U/E pain after 

receipt and use of their power chairs. While prevention of common overuse 

injuries is essential, the introduction of powered or power-assist mobility 

should be introduced early on, in the late teens or early twenties. In addition, regular performance of targeted stretching and strengthening exercises 

may help reduce pain and to prevent injury for patients with SB.

Basic Science and Primary Prevention

It is known that 60% of cases of neural tube defects are preventable by maternal folic acid (FA) supplementation prior to conception, but prediction in 

individual cases is not possible. A basic science study by Mayanil et al. used 

an animal model to study the de-methylation of histones H3K4 and H3K27 

as a potential epigenetic marker for the underlying mechanisms of Spina 

Bifida. Identifying such markers might eventually lead to better predictive 

tools and the ability to identify potential therapeutic targets to treat this 

defect in utero.

First World Congress on Spina Bifida Research and Care 121
The Management of Myelomeningocele Study

Elizabeth Thom PhD 

Eunice Kennedy Shriver National Institute of Child Health 

and Human Development 

Maternal-Fetal Surgery Units Group

The Management of Myelomeningocele Study (MOMS) is a Eunice Kennedy Shriver National Institute of Child Health and Human Development 

(NICHD) funded randomized trial of prenatal versus postnatal myelomeningocele repair that is ongoing at three clinical centers; the University of 

California San Francisco (UCSF), The Children’s Hospital of Philadelphia 

(CHOP), and Vanderbilt University Medical Center (VUMC), with a central 

data and study coordinating center at the George Washington University 

Biostatistics Center. This report provides an update of the trial status in addition to a description of methods and policies in place to ensure that the 

study is of the highest standard scientifically and that the study results will 

be fully interpretable. 

Repair of myelomeningocele in utero via hysterotomy began in 1997 based 

on evidence that neurologic function deteriorates during gestation and that 

in animal models similar surgery was associated with an improvement in 

neurologic function. Three centers, VUMC, UCSF, and CHOP, pioneered 

this technique and as of December 31, 2002, 234 women had received open 

fetal repair of myelomeningocele. The most striking result was the apparent 

reduction in placement of ventriculo-peritoneal shunt by one year of age: Of 

the 181 infants who had reached this age, 89 (49%) had had a shunt placed. 

This compared very favorably with the generally accepted rate of 80% to 

90%. Supporting this result, both the Vanderbilt and the CHOP group 

demonstrated a marked improvement in the degree of hindbrain herniation 

following in utero repair. 

While these results were promising they were not conclusive. Adequate control groups with which to compare the prenatally repaired infants were not 

available and the results were subject to bias and confounding. Follow-up 

was not complete and the outcomes reported were only short-term. Tempering enthusiasm for the procedure, concerns were raised regarding the risks 

to both mother and baby, particularly uterine rupture or adverse outcomes 

in future pregnancies for the mother, and prematurity with its sequelae for 

the infant. To determine definitively whether fetal repair of myelomeningocele, with its attendant maternal and neonatal morbidity, is warranted 

required a randomized trial. In 2002, the three maternal-fetal surgery centers and an independent data coordinating center, the George Washington 

University Biostatistics Center, were funded by the Eunice Kennedy Shriver 

National Institute of Child Health and Human Development (NICHD) to 

122 The Future is Now
conduct a randomized controlled trial to compare the safety and efficacy of 

in utero repair of open neural tube defects with that of the standard postnatal repair. Centers other than these three that were interested in developing a maternal-fetal surgery program for in utero repair of spina bifida 

voluntarily agreed to postpone their efforts until the results of the trial were 

known.

Recruitment began in 2003, with a sample size goal of two hundred. Patients diagnosed with myelomeningocele are referred to the coordinating 

center for initial screening via telephone by a trained coordinator (currently 

a genetics counselor). After obtaining consent for screening, the counselor 

reviews the women’s medical records. Even those who contact or are referred by a physician to one of the three clinical centers are required to pass 

through the initial screening process at the coordinating center. By this 

method we are assured of consistent counseling for the women regarding 

both spina bifida information, the logistical implications of participating in 

the trial, which are complex, the potential risks and benefits of prenatal surgery based on data published before the trial, and the concept and reasons 

for randomization. This additional step gives women time to process information and to consider their options at a most difficult point in their lives. 

We are also assured of consistency in applying the eligibility criteria. 

Women at least eighteen years of age carrying a singleton fetus with a myelomeningocele lesion starting from T1 to S1 with evidence of hindbrain herniation, normal karyotype and whose pregnancy has not progressed beyond 

25 weeks are potentially eligible for the trial. Women have to be resident in 

the USA, not necessarily a citizen, but with the ability to attend follow-up 

when their child is 12 and 30 months. Because prenatal surgery is associated with an increased risk of preterm birth, those with an already increased 

risk of spontaneous preterm delivery are excluded, e.g., those with a previous spontaneous preterm delivery and those with a short cervix less than 

20 mm. Two other major exclusion criteria are contraindication to surgery, 

which encompasses conditions such as prior classical cesarean section, or 

open fetal surgery, and a body mass index of 35 or higher, again because of 

potential complications with surgery. 

Those eligible and interested are assigned by the counselor to one of the 

three clinical centers where final detailed evaluation and screening is 

conducted over two days. Patients who still satisfy the eligibility criteria 

and consent to the study are centrally randomized via a secure website to 

prenatal or postnatal surgery. The randomization sequence is unpredictable 

and stratified by center. The advantage of this method is that the investigator cannot predict the next surgery assignment, which eliminates selection 

bias. If a patient is randomized to prenatal surgery, she receives the surgery 

within three days of randomization and once discharged stays in nearby 

First World Congress on Spina Bifida Research and Care 123
accommodation, with weekly visits to the MOMS maternal fetal medicine 

specialist until cesarean at 37 weeks if still undelivered. While this procedure is a potential burden on the patient, it ensures appropriate care in case 

of threatened preterm delivery or other problem. If a patient is randomized 

to postnatal surgery she returns home for prenatal care, and returns to the 

MOMS clinical center at 37 weeks of gestation for cesarean delivery and neonatal repair of the myelomeningocele defect by the MOMS neurosurgeon. 

Besides consistent neurosurgical repair for the postnatal group, delivering 

at the MOMS center ensures consistent neurosurgical and urologic management with respect to the need for shunt and clean intermittent catheterization for both groups, as well as complete and consistent data collection, 

including required radiological images. Costs for study procedures such as 

radiological imaging are covered by the study if the patient delivers at the 

MOMS center. 

This trial has two main primary endpoints. The first is the need for ventricular decompressive shunting by 12 months of age defined by objective criteria. 

These criteria are communicated with the community neurosurgeons by the 

MOMS clinical center neurosurgeons, although actual management is of 

course in the hands of the infants’ caregivers. All infants return for a followup visit at 12 months of age and their medical records are obtained. Of note, 

infants without a shunt who have died before twelve months are automatically considered to have satisfied the criteria for the outcome, since it is not 

possible to determine whether they would or would not have needed a shunt 

had they survived. This eliminates the potential bias in case there is a differential in survival between those assigned to prenatal or postnatal surgery. 

The records and images of all infants, including those for who no shunt has 

been placed, are reviewed by an independent committee of neurosurgeons, 

blinded to treatment assignment, to determine whether criteria have been 

met. 

The second primary endpoint is based on a combination of neurodevelopmental outcome as measured by the Bayley Scales of Infant Development 

Mental Developmental Index (MDI) and motor outcome as measured by 

the difference between the anatomical lesion level and the motor function 

level. All infants return to the center for developmental testing and a physical examination. The Bayley score is determined at 30 months of age by an 

independent psychologist trained specifically for the study and blinded to 

treatment assignment. The difference between the anatomical and functional lesion levels is also determined by trained examiners. Since this is a 

difficult assessment, physical exams to determine motor function level are 

videotaped and reviewed by a single expert for consistency. Likewise radiologic images to determine anatomic level are reviewed by an independent 

committee of radiologists. 

124 The Future is Now
In addition, we received supplemental funding to determine whether prenatal surgery confers benefit on urological outcomes. For all infants whose 

mothers were enrolled after the start of funding, urinalysis, renal/bladder 

ultrasounds and video-urodynamics are conducted at discharge as well as 

the 12 and 30-month visits. The primary urological outcome is the need for 

clean intermittent catheterization (CIC) by 30 months of age, including 

recurrent urinary tract infections, as defined by objective criteria. Similar 

to the shunt outcome, if CIC is implemented without meeting criteria, this 

still qualifies as a primary outcome; thus it is important for urologists to use 

criteria. Again, an independent committee of experts, blinded to treatment 

assignment, determines whether criteria have been met. Major secondary 

outcomes include neonatal morbidity and mortality, Chiari II malformation 

and other radiological signs, as evaluated by the independent radiologists, 

other neurodevelopmental /motor testing conducted by the examiners, 

maternal reproductive outcome and an overall assessment of the child and 

family. 

The common thread in the determination of outcome for this trial is the 

use of independent review committees and examiners. Since this is an unmasked trial, evaluation is potentially susceptible to both investigator and 

ascertainment bias. Even the perception of bias can be damaging. Investigator bias can occur when there is a lack of equipoise; thus the independence 

of the expert review is important. The review committees consist of experts 

at institutions that are not involved in the MOMS trial; indeed if a MOMS 

child is receiving care at the expert’s institution the expert will recuse himself/herself from the review of the case. Ascertainment bias can occur when 

the group assignment is known to those evaluating the outcomes; therefore, 

the examiners and review committees are blinded to treatment assignment 

wherever possible. For example, the neurosurgeons reviewing the shunt outcome are not given actual neonatal head circumferences to review; instead 

the data are converted into percentiles. Thus small head circumferences 

related to prematurity, which is a common outcome with prenatal surgery, 

are not apparent. 

As with any NIH-sponsored randomized clinical trial, a Data and Safety 

Monitoring Committee (DSMC) has been appointed by the NIH; each 

member has no conflict of interest and none has been involved in the care 

of a MOMS child. This is a multidisciplinary group with expertise in Biostatistics, Epidemiology, Maternal-Fetal Medicine, Neonatology, Pediatrics, 

Neurosurgery, Urology and Ethics; in addition a layperson sits on the committee. The committee is concerned not only with patient safety but also 

with ensuring that the trial’s results are interpretable and that the study is 

conducted as well as possible. The committee makes recommendations to 

the NICHD based on a review of the interim data and has the authority to 

recommend stopping the trial before the planned sample size. Reasons for 

First World Congress on Spina Bifida Research and Care 125
stopping early include evidence of benefit or evidence of harm. In addition, 

if the trial were deemed to be ‘futile,’ i.e., if very little chance exists of showing a benefit given the data to date, a DSMC might recommend study termination. The committee also considers any external influences and events 

that alter the premises on which the trial was founded. 

We projected that recruitment into the trial would take eighteen months. 

Unfortunately, this was overly optimistic, and after three years of experience, the projection was revised to six years. As of this writing, after a little 

over six years, 157 patients out of 200 have been randomized. Although 

many are eagerly awaiting the results and may not understand why interim 

results cannot be released, to preserve the integrity of the trial we cannot 

accede to this desire. Released interim data could induce investigators to 

make premature or incorrect inferences. Such data could affect how future 

participants are treated, which could bias the results or even inhibit the trial 

from finishing. Although this study is unmasked, we follow the procedures 

as though it were a double-masked trial, so that no outcome data are presented or discussed even with the MOMS investigators. Instead, the DSMC 

will make recommendations regarding any data that should be made available. In the meantime we continue our efforts to ensure that all women in 

the United States who are interested have access to the trial and encourage 

all with questions, comments as well as potential participants to contact us 

at 1-866-ASK-MOMS. 

126 The Future is Now
Appendix 1

Hal Pote Memorial Lecture

These remarks were delivered by Judy Woodruff on Wednesday, 

March 18, 2009 to attendees of the First World Congress on 

Spina Bifida Research and Care. 

I’m deeply honored to have been asked to deliver this lecture in memory of 

a dear friend – the man who did so much to raise the profile of Spina Bifida, 

to raise money for research on Spina Bifida, to strengthen the Spina Bifida 

Association and to create the Spina Bifida Foundation.

Hal Pote was a banker and if he had been in charge, I’m confident the banking crisis would never have happened! He had incredible devotion to the 

cause that brings us all together – and remarkably, it was not because he 

himself was born with Spina Bifida, nor that he was the parent of a child 

with Spina Bifida. In Hal’s case, it was through his extraordinary caring 

and compassion for his nephew. Hal always said because he was fortunate 

enough to have been healthy and done well in his life, he wanted to give 

back to others. He had a gift of boundless energy and he focused so much 

of that energy on Spina Bifida. I remember many conversations with Hal, 

his focus and his endless enthusiasm. We miss him terribly, but the light he 

brought to the work you do, shines on. 

If Hal were here today, he would join me in congratulating you on this 

conference – on what I’m told is turning out to be a very successful first 

World Congress on Spina Bifida: Research and Care. Don’t be modest about 

that! Someone said this morning how pleasantly surprised they were at the 

breakthrough work being discussed here. That is an exciting development. 

I wish I could have participated in more of your sessions than this morning. 

Just being here a short time reminds me of what a great group of people who 

work on Spina Bifida are! It is thrilling for me to know that you are learning 

from each other and that specialists from all facets of the Spina Bifida community have come together to compare notes and share ideas about research 

and about care. I know you have good reason to do this and I would just add 

that it certainly reflects the lives that individuals with Spina Bifida lead – 

they wake up every morning facing a complicated and cross-cutting set of 

challenges, ranging from how do they get around physically, how do they 

go to the bathroom (in my view, the most important question of the day!), 

to how do they deal with assorted but constant medical issues and a large 

network of physicians and other medical care providers.

First World Congress on Spina Bifida Research and Care 127
I’ve built a career as a news reporter and interviewer – always trying to keep 

my personal views out of the stories I cover. But it probably won’t come as a 

surprise there is nothing objective or dispassionate about my view of Spina 

Bifida. It’s a deeply emotional subject for me, one I have lived with for the 

past 27 and 1/2 years, since our older son Jeffrey was born. Some of you have 

heard me tell the story of how my husband, Al Hunt, and I had never heard 

of Spina Bifida... when, in August of 1981, in the 8th month of my pregnancy 

with our first child, we scheduled a routine sonogram – to give us a better 

idea when the baby would be born. When the technician told us he saw 

something we should discuss with the doctor – enlarged ventricles in the 

baby’s head (ventricles – another term we had not known) and the possibility of an opening in the baby’s back – with spinal cord damage – they 

couldn’t tell because my rib obscured the lower spine – we were overcome 

with worry and fear. What did this mean? The baby wouldn’t be normal? He 

might need surgery? We had a million questions – and we spent the final 

month of my pregnancy in a state of high anxiety – still excited about the 

coming birth but dreading the news no parent wants to hear. 

Jeffrey was born – on time – a beautiful bouncing baby boy – by C-section, 

at the doctor’s request – with Spina Bifida, an opening in his lower back. 

We cried tears of happiness and privately, of sorrow, for the loss of what we 

didn’t know and in fear of what lay ahead. When Jeff was 12 hours old, Dr. 

David McCullough (the late pediatric neurosurgeon and a wonderful human being) closed the opening in Jeffrey’s back and did repair work that 

he explained and we didn’t understand very well; it was all a blur. We came 

home from the hospital after a week; we settled into a dizzying routine of 

doctor visits, especially watching, as it turned out, his head because of those 

enlarged ventricles. Eventually Jeffrey’s head became noticeably large and 

at 10 months, even though he was showing no developmental delays yet, Dr. 

McCullough recommended a shunt. I remember that hospital stay like it 

was yesterday – how scared we were and how quickly Jeff recovered. He was 

standing in his crib the day after the surgery: Mr. Personality!

Despite all the warnings we were given, Jeff began to walk on time at 13 

months, and he ran (a little flat footed) and climbed and was the most active 

little boy you could imagine. If it weren’t for that shunt, I would have forgotten about any limits on his mobility. But in the back of my mind was always 

a fear that he’d fall and hit his head. Jeffrey paid no mind; he rode a bike, fell 

and split his chin, went roller-skating with his mother’s “Be careful” ringing 

in his ears – only to crash into the front door and cut his chin again – more 

stitches! He had no fear: climbed trees, got into all sorts of scrapes, learned 

to ski, was a natural! The only things he steered clear of were competitive 

ball sports, like soccer, after about age 6, because he noticed every other 

boy, and even the girls, ran faster than he could. It broke my heart, to watch 

a mandatory foot race at a school field day, when Jeff came in dead last. He 

128 The Future is Now
didn’t show that it bothered him but it obviously did! He was a smart student, despite his learning disabilities– I actually brought him to two Spina 

Bifida national conferences to learn all we could about those frustrating 

“learning differences” – how hard math was, for example, and of course to 

find out anything we could about how to deal with the most embarrassing issue of all – bladder and bowel incontinence. Jeff catheterized himself 

starting at age 5, in pre-kindergarten. He was occasionally teased for being 

wet or having an accident and he mostly handled it remarkably well. But at a 

school where all the other children seemed 100% healthy though, he clearly 

felt different. 

Still, he soldiered on, switched schools to get more academic support and 

grew increasingly interested in a career in medicine. He wanted to find a 

way to prevent Spina Bifida and he became fascinated with the study of 

infectious diseases along the way. He did junior internships at the CDC for a 

few weeks as a 14 year old. He interned at the NIH in a cancer lab as a 15 year 

old and had been hired for an internship at the FDA for the summer after 

10th grade, when the dreaded recommendation came that he should get a 

shunt replacement. He hadn’t had any problems in 16 years – so he was very 

reluctant to go through with the procedure. But he did. 

And there were complications – complications that changed Jeff’s life forever and the lives of all of us who love him.

That was 10 years ago. Fast forward to today: Jeff is 27, attending his 8th 

year of college at a small school in North Carolina. He uses a wheelchair, 

needs help for all transfers, has the use of only one arm and has both vision 

and speech impairments, as well as major short term memory loss. He will 

always need companion care; his life is enormously circumscribed by his 

physical condition. But he has a spirit and a determination that are truly 

inspiring. He is determined to get a college degree and he is on track to do 

so after one more semester. He says his dream job would be to run a recreational and therapeutic facility for children with disabilities. Of course he 

would need considerable help to do that and we are starting to focus now on 

finding the right living arrangement for Jeff post-college that would allow 

him to pursue that dream or any other. And you won’t be surprised to know 

how difficult that is; this country is dreadfully lacking in living and work 

opportunities for individuals with disabilities (I saw the 66% unemployment 

number for adults with Spina Bifida)! They are cute when they’re young but 

a problem when they’re older – that’s the unspoken attitude. Having said 

that, there is something unstoppable about Jeffrey Hunt. And one way or another we want to make sure he has the fullest life he possibly can. We thank 

him for opening our eyes to the world of those with disabilities. That is the 

greatest gift he’s given us, other than himself. 

First World Congress on Spina Bifida Research and Care 129
Our journey with Jeffrey – a journey that has involved (as all such journeys 

do) our entire family, including his younger brother and sister, has been – 

and continues to be – a long and winding road. Jeff has borne the toughest 

burden of all. And when I have allowed myself to slip into feeling sorry for 

us – to question, “why Jeff?” – I’ve realized there is no answer of course....

just as there is no answer for any of the thousands of parents who ask – why 

my child?

But Jeffrey himself doesn’t dwell on this. And we quickly figured out it does 

no good for ANY of us in our family to dwell on why and what might have 

been. It doesn’t get any of us very far, and it doesn’t serve the needs of these 

children, young people and adults, who live with this maddeningly complicated birth defect over the course of a normal life span.

We owe them much more than any backward look, and that’s why the research and other work you and your colleagues in the scientific and medical 

community do is so important.

It’s also why – not as a journalist who can’t take sides in these debates but, 

as a mother – I am able to celebrate the proposed increases in medical research in the new federal budget, and the funding that was part of President 

Obama’s economic stimulus package which Congress recently passed.

Despite the findings that public and private financial support of biomedical 

research increased dramatically over the decade from 1994 to 2004, there is 

no denying that over the past 6 or 7 years, since the early 2000s – the nation 

has seen a flat-lining in government investment in health-related research 

and development. 

As recently as 2007, the overall trend in funding for research to improve 

health across the board was stagnant. What small spending increases there 

were, were eaten up by inflation. In 2007, the United States invested only 5 

and 1 1/2 cents of every dollar spent on health care, in research.

So it was noteworthy that President Obama proposed and Congress approved $10 billion for the National Institutes of Health in the Economic 

Recovery and Reinvestment Act – better known as the stimulus package.

And it’s believed the budget proposal for 2010 that President Obama sent 

to Congress a couple of weeks ago, will ultimately include a strong commitment to medical research, although there are few hard numbers available at 

this early stage of the legislative process.

Still, even as we celebrate these positive developments – and the fact that 

since 2002, when the National Center on Birth Defects and Developmental 

Disabilities was established, that it has received more than $750 million for 

its work – still, the amount of money for research into Spina Bifida has been 

130 The Future is Now
comparatively small: some $50 million in NIH funding over the past 5 years; 

another $24 million for the National Spina Bifida Program, since it was 

established by Congress five years ago, and housed at the Centers for Disease Control. And to clarify, that money is devoted to, not only research, but 

also work on public awareness and outreach. Separately, another $10 million 

over the past five years has been spent on Folic Acid related work – again, 

research, outreach, and other programs. 

I had a first-hand glimpse of just how much more MIGHT be done, at the 

basic level of research, when I visited a lab recently at the Medical Center at 

the University of Colorado, Denver – the Anschutz Campus, in the Pediatrics Department. A scientist, Dr. Lee Niswander, and two graduate students 

were engaged in a fascinating three-pronged study. 

To sum it up roughly, it involves: first, studying the normal process of neural 

tube closure to understand how the cells interact with one another, using 

dynamic imaging. Second, trying to understand the genes that are required 

for neural tube closure by identifying genes that cause neural tube defects. 

And third, trying to understand how genes interact with the environment, 

especially folic acid, in the prevention of neural tube defects. 

Dr. Niswander told me it had been surprising to her to learn how little 

directed research had gone into understanding Neural Tube Closure and 

Neural Tube Defects. She said, it had instead been a rather haphazard or 

random mutation found in one lab or another without a specific interest 

in the subject. She said that was why she and her colleagues decided about 

seven years ago to try to tackle this more systematically by directly screening 

for mutations that affect Neural Tube Closure in the mouse embryo. They 

generated mutations in the mouse genome, and then looked for Neural 

Tube Defects. Using a process of working backwards, they’ve generated a 

large collection of mice, and have had considerable success in identifying 

the mutant genes, as well as figuring out how these genes work to allow 

closure of the neural tube. They have also discovered novel genes not previously recognized for their role in this process. 

I was particularly interested in the research team’s use of dynamic imaging 

to understand the closure process in mouse embryos. Previously, they said, 

as far as they knew, it had been studied only in non-mammals. Their early 

findings confirm that different parts of the neural tube come together in 

different ways – some by a process like “zippering,” and other – higher up – 

by sending out cellular “feelers” reaching across the gap between the neural 

folds. They told me this suggests that perhaps specific genes control closure 

differently from one region to another. I’ve already gone WAY beyond my 

understanding of what I saw, but what was important, was their effort to 

understand and identify all the genes involved – and building on that – to 

First World Congress on Spina Bifida Research and Care 131
understand eventually what therapies, in addition to folic acid supplements, 

may help prevent neural tube defects. We know that most, but not all 

NTD’s, can be prevented by folic acid. 

These are uncertain times in Washington. The financial crisis and the 

economic slide have come on fast, and have policy-makers scrambling for 

answers.

Our new President and the team he’s put together are working non-stop to 

deal with collapsing financial institutions, toxic assets in the surviving biggest banks, rising unemployment, home foreclosures and a growing credit 

freeze. Just to name a few of the problems on their plate.

It’s gotten ugly. Fingers are pointed in every direction over who is to blame.

But as someone who has covered Washington for over 30 years, even though 

I’ve not covered a recession quite like this one, I believe the worst of this 

mess will get sorted out. The financial landscape will look different of 

course; not every institution will survive and many have already gone under. 

The argument that President Obama makes that this crisis presents an opportunity – a moment to address several other festering problems on the 

national agenda, including health care, is being challenged by critics who 

say he should focus single-mindedly on the economy. There’s no doubt in 

all our minds that the economy is number one, but for the long-term wellbeing of our society, of the American people, it is hard to believe it’s a good 

idea to delay yet again addressing questions of access and affordability of 

health care and yes, the need for research. From a parochial standpoint, as 

the parent of a child with Spina Bifida, and as a citizen, it’s hard to accept 

the argument that delay makes sense. 

That’s why the work you do at this Congress, which goes on despite the 

recession, is so important. On behalf of family members everywhere – all 

those with a loved one who has suffered because of Spina Bifida – for all of 

us who would give anything to know no one else had to live with this terrible 

complex birth defect and all its complications – on behalf of all of us, thank 

you for all you do and all you will go on to do from here.

132 The Future is Now
Appendix 2

Participant List

Jennifer Abrams MSW, LSW Kim Baker RN

Shriners Hospital for Gillette Children’s Specialty 

Children-Chicago Healthcare

Karen Rodrigues Abreu Anthony Balcom MD

AACD Medical College of Wisconsin

Elizabeth Adams John Banta, M. D. MD

OHSU Connecticut Children’s 

Medical Center Caryline Adkins 

Le Bonheur Children’s Mathilde Barbeau 

CRDP-CA Kayleen Ala RN

Arnold Palmer Medical Center, Tera Bartelt BSN

Orlando, FL Children’s Hospital of Wisconsin

Ann Alriksson - Schmidt Peter Bartoò 

CDC/NCBDDD Children’s Faculty Hospital 

Bratislava Slovakia Haluk Altiok 

Shriners Hospitals for Roger Bayston PhD, FRCPath

Children - Chicago University of Nottingham

Sheila Amoedo Patricia Beierwaltes CPNP

SARAH Network of Children’s Hospital of Michigan

Rehabilitation Hospitals Melissa Bellin PhD, LCSW

Brice Antao MD University of Maryland School of 

Leeds Teaching Hospital NHS Trust Social Work

Mimi Ardis Caryn Benline 

Spina Bifida Clinic/Peoria, IL Advocate Medical Services

Karen Arena RN Timothy Bertram PhD

Spina Bifida Association of Tengion Inc

Western PA Jeffrey Blount MD, FACS, FAAP

Brian Armour MD University of Alabama/ Children’s 

Centers for Disease Control Hospital of Alabama

and Prevention Rebecca Boudos MSW

Sherry Arvin Children’s Memorial Hospital 

SBA Robin Bowman MD

Christopher Austin MD Children’s Memorial Hospital

University of Iowa

First World Congress on Spina Bifida Research and Care 133
Jenna Brand MSN, RN, CPNP Maria Cartmill 

VCU Health System Nottingham University Hospital 

NHS Trust Patricia Braun RNc, CPNP, PhD

Loyola University Medical Center Laura Caruso 

Codman, A Johnson & Johnson Co. Timothy Brei MD, FAAP

Indiana University School of Ana Laura Chang 

Medicine AACD

Angela Brentrup T Debuene Chang 

University of Muenster, Germany NIH/NDDK/KUH

Virginia Briggs PhD Earl Cheng MD, FAAP

University of Massachusetts Children’s Memorial Hospital, 

Medical School Chicago

Lyndsey Bristow George Chiang 

Spina Bifida and Hydrocephalus San Diego Children’s Hospital

Association of Southern Alberta James Chinarian 

John Brock, III MD Children’s Hospital of Michigan

Vanderbilt Children’s Hospital Anna Christison CTRS

Jean Brown MS, APRN Shriners Hospitals for Children

Shriners Hospitals Paul Cirino PhD

Cindy Brownstein University of Houston - 

Spina Bifida Association Texas Medical Center Annex

Karin Buchanan Jerry Clayton Ph.D.

LeBonheur Children’s Hospital Children’s Hospital Denver

Laurien Buffart PhD Bruce Cohen 

Erasmus MC, Department of VitaPath Genetics

Rehabilitation Medicine John Collins 

Robert Burke The Ottawa Hospital

Hasbro Children’s Hospital Andrew Combs RPA-C

Ryan Callaway Columbia University Medical Center 

Morgan Stanley Children’s Hospital Cynthia Camille FNP

Duke University Michael Conklin MD

Children’s Hospital of Alabama Vince Campbell 

CDC/NCBDDD Charles Curry 

Kennedy Krieger Institute Michael Carr MD, PhD

Children’s Hospital of Philadelphia Andrea Cvitkovic

Melissa Danielson 

CDC/NCBDDD

134 The Future is Now
Amanda Darnley Mary Jo Dunleavy RN, BSN

Spina Bifida Association Children’s Hospital Boston

Drew Davis MD Brian Elmlinger MD

Children’s Health System Nemours Children’s Clinic

Musa Murat Dayanç Michael Erhard 

Gulhane Military Medical Academy Nemours

Gregory Dean MD Carolina Facciani 

Temple University Astra Tech

Marvalyn DeCambre MD Andrea Fairman 

Rady Children’s Hospital University of Pittsburgh

Betsy DeCesare Ana Maria Fernandez Lauretta

Children’s Hospital of Alabama

Ann Flanagan PT, PCS Marc DelBigio MD, PHD, Shriners Hospitals for FRCPC, BSc Children - Chicago Unit University of Manitoba, 

Department of Pathology Jack Fletcher PhD

University of Houston Maureen Dennis PhD

The Hospital for Sick Children Ann Forster 

MetroHealth Medical Center Katie Devine 

Loyola University Chicago Suzanne Fortuna CNS, FNP

Rainbow Babies And Children’s Catherine deVries Hospital Pediatric Urology

Israel Franco MD Luciano Dias MD New York Medical College Rehabilitation Institute of Chicago

Kurt Freeman Brad Dicianno MD Oregon Health & Science University University of Pittsburgh 

Medical Center Dominic Frimberger MD

University of Oklahoma Health Julie Dicker RN Sciences Center The Children’s Hospital at Westmead Sydney NSW Australia Jacki Frost 

Shriners Hospital for Children Irene Dietz Tampa Metrohealth Medical Center

Herbert Fuchs 

Nienke Dosa MD, MHP Duke University Medical Center Center for Development, 

Behavior, and Genetics, Michael Gallant M.D.

SUNY Upstate Medical University All Children’s Hospital

First World Congress on Spina Bifida Research and Care 135
Selenge Gantumur Vickie Hobensack 

MCS LLC Nationwide Childrens Hospital

Kimberlee Garver LCSW, BCD Judy Hodge 

SUNY Upstate Medical University SUNY Upstate

Carla Garwood RN Grayson Holmbeck PhD

University of Michigan Loyola University Chicago

Bishoy Gayed MD Yves Homsy MD

University of Pittsburgh Medical Children’s Urology Group

Center Amy Houtrow 

Timothy George UCSF

Pediatric Surgical Subspecialists Cynthia Hulse 

Roslyn Gleeson RN, BC, MSN Penn State Hershey

Spina Bifida Resource Network, NJ Takayuki Inagaki MD

Marianne Gorzkowski Kansai Medical University

Shriners Hospital Chicago Jared Jackson MA

Eileen Gray Loma Linda University

Salve Regina University JoLinda Jackson 

Roseann Greene RN Childrens Hospital of the 

Children’s Memorial Hospital Kings Daughters

Adriane Griffen MPH, CHES Alison Jones 

Spina Bifida Association The Children’s Hospital at 

Westmead Judy Griffey 

Nationwide Children’s Hospital Joyce Jones 

SBA Laura Gueron PT, MPH

Gillette Lifetime Specialty Susan Jordan 

Care Clinic The Walter E. Boehm 

Birth Defects Center Rochelle Haas MD

AI duPont Hospital for Children David Joseph MD

UAB Pediatric Urology Dorothy Harris 

Thames Valley Children’s Centre Jenifer Juranek PhD

UT Houston Khader Hasan PhD

U of Texas Health Science Center at Olena Kakhnovets 

Houston Optica

Daniel Herz Jerie Beth Karkos MD

Childen’s Hospital at Dartmouth Children’s Hospital of Wisconsin

Adonis Hijaz Evan Kass 

Upstate Medical University Beaumont Hospital

136 The Future is Now
Jonathan Kaye MD Chantal Ladouceur 

Pediatric Urology, Emory University Spina Bifida and Hydrocephalus 

School of Medicine Association of Southern Alberta

Heidi Kecskemethy RD, CSP, CDT Yegappan Lakshmanan duPont Hospital for Children Children’s Hospital of Michigan

Stephanie Kelleher BSN RN Jennifer Langton Medical University South Carolina Kerry Lavan Jesscia Kelly The Children’s Hospital Coloplast Cynthia Lazzaretti Lizabeth Kelly PT UCSF Medical Center

Pediatric Physical Therapy, Inc Lynette Lee Yusuf Kibar MD Concord Hospital Gulhane Military Medical Academy, 

Ankara, Turkey Robin Leger RN, PHD

University of Connecticut Christine Kinavey PhD Health Center 

Kaiser Oakland Medical Center New England Musculoskeletal 

Shelly King MSN CPNP Institute

Indiana University Paul Levett 

Russell Kirby PhD, MS, FACE Liberator Medical Supplu Inc.

USF College of Public Health Eric Levey MD

Kristi Kirschner Kennedy Krieger Institute

Rehabilitation Institute of Chicago Julian Lin 

Gloria Krahn University of Illinois

CDC/NCBDDD Ronna Linroth CT, MA

Susan Krinsky RN, CRRN Gillette Lifetime Specialty 

Children’s Urology Associates Healthcare

Gregory Liptak MD, MPH Colleen Krombach University of Rochester; Children’s Memorial Hospital Medical Center

Brad Kropp M.D. Dennis Liu University of Oklahoma Health University of Toledo/St. Vincent Sciences Center Mercy Children’s Hospital

Julia L’Abbe RN, BScN Lori Lowe MSN, RN, CPNP-PC

Bloorview Kids Rehabilitation Riley Children’s Hospital

Susan Labhard MSN, RN Michelle Lyon 

Shriners Hospital for Children Astra Tech

First World Congress on Spina Bifida Research and Care 137
Mary MacBlane MS, PNP-BC Jose Medina-Bereciartu 

SUNY Upstate Medical University Asociación Venezolana de la 

Espina Bífida Amy Maggio 

SBA of Illinois Kathleen Meehan-Farrar RN

Children’s Medical Services Bryan Malas MHPE, CO, CPed

Children’s Memorial Hospital Hal Meltzer 

Rady Children’s Hospital Sanjay Mardolkar MD

St. Vincent Mercy Children’s Marcie Mendelsohn 

Hospital Cincinnati Children’s Hospital

Keith Marosek Mark Merkens MD

Coloplast Oregon Health & Science University

Shelden Martin MD Tom Meurrens MD

Loyola University Medical Center UZ Leuven

Mary Mastel-Smith Jennie Mickelson 

VA Health Administration Center Children’s Memorial Hospital

Scott Maurus Rosalia Misseri MD

Hollister, inc. Riley Hospital for Children

C. Shekhar Mayanil PhD Victoria Moerchen PT, PhD

Children’s Memorial Medical Center University of Wisconsin-Milwaukee

John Mazur Abd Rashid Mohamed 

Nemours Children’s Clinic College of Social Work

Lynnette Mazur Penelope Molina 

Shriners Hospitals for Children Associação Médica de Bento 

Gonçalves Rhachelle McCraw 

Spina Bifida Shubhra Mukherjee MD, FRCPC

Rehab Institute of Chicago Suzanne McKee RN, BSN

Arnold Palmer Medical Center, Joe Mulinare MD

Orlando, FL Ctrs for Dis Ctl & Prev

Kyle McLean NP Catherine Muth 

UWMF University Urology, PLLC

Deborah McLeish Vitale Myrtha 

American Family Children’s Hospital Sociedad Argentina de medicina 

Física y Rehabilitación Catherine McMillin OTR/L

Gillette Lifetime Specialty William Nantau B.Sc, CNIM

Healthcare William Beaumont Hospital 

Royal Oak Michelle McNeill 

London Health Sciences Centre

138 The Future is Now
Rachel Neff Greenley PhD Lorna Patanella 

Medical College of Wisconsin University of Rochester

Carol D. Nelson LSW April Pate BA, ATP

Gillette Lifetime Specialty Gillette Lifetime Specialty 

Healthcare Healthcare

Ann Neville-Jan PhD, OTR/L Jogi Pattisapu MD

USC/CHLA Childhood Neurosurgery and Center 

for Hydrocephalus and Arnold Mike O’Brien Palmer Hospital for Children Royal Children’s Hospital

Kenneth Peters MD Michelle O’Byrne MS Beaumont Hospital The University of Texas 

Medical School Paula Peterson PNP

Primary Children’s Medical Center Colleen O’Toole RN

IWK Health Center Leslie Phillips CPNP

Children’s National Medical Center Godfrey Oakley MD

Rollins School of Public Health; Trish Piascik CRNP,PNP-BC

Emory University St. Christopher’s Hospital for 

Children Greg Olavarria MD

Childhood Neurosurgery Daniel Preudhomme MD

University of South Alabama Martina Oneko MD

Kilimanjaro Christian Ann Price MD

Medical Centre Vanderbilt University School of 

Medicine Laura Orgeron 

Astra Tech Taopheeq Rabiu MD

UCH, Ibadan, Nigeria Kathryn Ostermaier 

Texas Children’s Spina Bifida Clinic Norman Ramirez 

Hospital La Concepcion Lijing Ouyang PhD

CDC/NCBDDD Gail Rampersaud MS, RD, LDN

University of Florida Ann Paal MD

Eestonian SpBH Ravindra Rao 

Loma Linda University Fernando Palacio Children’s Hospital UroMed, Inc.

Karen Ratliff-Schaub John Park MD Nationwide Children’s Hospital University of Michigan

Karen Rauen MSN, RN, Michael Partington MD, FACS BCIAC-PMDB Gillette Children’s Specialty Children’s Hosp. WI Healthcare

First World Congress on Spina Bifida Research and Care 139
Veena Raykar Kathleen Sawin DNA, 

St Joseph’s Hospital Auburn CPNP, FAAN

UWM and Children’s Hospital Roozbeh Rezaie PhD of Wisconsin University of Texas Health Science 

Center at Houston Susan Sawyer MBBS, MD, FRACP

Royal Children’s Hospital Cosimo Ricciardi 

Self employed Ben Scanlan 

Spina Bifida Association of Arizona B. Stephens Richards MD

Texas Scottish Rite Hospital Diana Schwab RN

for Children Spina Bifida Association 

of Western PA Shenandoah Robinson 

Rainbow Babies & Children’s Sharon Sellet BAAE

Hospital Spina Bifida Association of 

Cincinnati Philippa Rodie 

BPNA Wan Tew Seow 

KK Women’s & Children’s Hospital M. Victoria Rodriguez-Casero 

Royal Children’s Hospital Jeff Shiflett 

All South Services for Irina Rogaleva World Congress Association Spina Bifida and 

Hydrocephalus Mikyong (Meekie) Shin DrPH

NCBDDD, CDC Melanie Rolli MD

Novartis Pharmaceuticals Howard Silberstein 

Corporation University of Rochester

Susan Ropacki Edwin Smith MD

Emory University School Samuel Rosenfeld of Medicine CHOC

Kathryn Smith RN, MN David Sacco USC University Center for Excellence Neurosurgeons for Children in Developmental Disabilities

Piali Samanta Warren Snodgrass MD Novartis Pharmaceuticals University of Texas, Southwestern Corporation Medical Center/ Children’s Medical 

Dino Santacroce MD Center in Dallas

University of Toledo Fabio Sparapani 

John Sarwark MD Universidade Federal de Sao Paulo

Children’s Memorial Hospital, Camie Spieker RN Chicago, IL, USA Seattle Children’s Hospital

140 The Future is Now
Anne Stanton Michele Torre MD

University of Kansas Medical Center G. Gaslini Institute, Genova, Italy

Craig Stevens Edwin Trevathan 

UroMed, Inc. National Center on Birth Defects & 

Developm. Disabilities, CDC Ben Stewart 

All South Services for World Eric Trumble MD

Congress Neurosurgeons for Kids 

Disney Children’s Hospital Janet Stewart at Florida Hospital Children’s Hospital Denver

Noel Tulipan Janice Stilkey Vanderbilt University Maine Medical Partners

Gayle Tyerman Mark Swanson Shriners Hospital for Children Centers for Disease Control and 

Prevention Amrish Vaidya 

KDA Hospital Parvin Tajik MD

Tehran University/Medical Sciences Christopher Vance 

SBAA Heather Taylor PhD

University of Texas Health Science Vijaya Vemulakonda 

Center at Houston Washington University School 

of Medicine Julius Teague 

Greenville Hospital System Carla Verpoorten 

University Hospital Leuven Patricia Thaker 

University of Wisconsin Madison Ashish Wakhlu MChir.

King George Medical University Judy Thibadeau RN, MN

Center for Disease Control Marion L. “Jack” Walker MD

and Prevention University of Utah, Primary 

Children’s Medical Center Elizabeth Thom PhD

The George Washington University William Walker Jr., MD

Biostatistics Center Seattle Children’s Hospital

Katherine Thoman-Godshalk Chad Wallis 

Cincinnati Children’s Hospital Pediatric Urology

Medical Center Julian Wan 

Sherri Thomas University of Michigan

Nationwide Children’s Hospital Benjamin Warf MD

Jeffrey Thomson MD A I duPont Hospital for Children

CCMC Faculty Practice Plan William, III Waring MD

Children’s Hospital of Wisconsin

First World Congress on Spina Bifida Research and Care 141
Thomas Webb MD, MSc James Wright MD

Cincinnati Children’s Hospital Hospital for Sick Children

Beth White Kushtrij Xhiha

St. Vincent Mercy Children’s Chaun Xiao MD Hospital Union Hospital of Tongji Medical 

John Wiener MD, FAAP, FACS College Huazhong University 

Duke University of Science and Technology

Alun Williams FRCS Elizabeth Yerkes MD

Nottingham University Hospitals, Children’s Memorial Hospital

Nottingham, UK Ruthie Youssefi 

Lisa Wilsford PA-C, MPH Pediatric and Adolescent 

Shriners Hospitals for Children Urology Inc.

Pamela Wilson T. Andrew Zabel PhD, ABPP - CN

The Children’s Hospital Kennedy Krieger Institute

Judy Woodruff Donna Zahra PhD, ARNP

Senior Correspondent, Nemours Children’s Clinic

The NewsHour with Jim Lehrer Kathy Zebracki 

Alison Wray Shriners Hospital for Children, 

Royal Children’s Hospital Chicago

Melbourne Australia

142 The Future is Now
Appendix 3

Meeting Agenda

Monday, March 16, 2009

6:45 – 8:00 am Continental Breakfast

7:30 – 8:00 am Opening Remarks

Scott T. Price, Esq. 

Earl Y. Cheng, MD 

Edwin Trevathan, MD, MPH 

Roger Bayston, PhD, FRCPATH

8:00 – 8:40 am Neurosurgery Keynote 

Obser vations on the Evolution of 

Thinking about Spina Bifida in Neurosurgery 

across an Academic Career 

Marion “Jack” Walker, MD

8:50 – 9:30 am Epidemiology/Genetics Keynote 

 Insufficient Progress in the Global Progress of Folic 

Acid-preventable Spina Bifida 

Godfrey Oakley, MD, MSPH

9:40 – 10:00 am MOMS Update 

Elizabeth Thom, PhD

10:00 – 10:15 am Morning Break

10:15 – 10:55 am Transition Keynote 

 Transitioning Adolescents and Young Adults 

with Spina Bifida to Adult Care 

Susan Sawyer, MD

11:05 am – 12:30 pm Transition Panel 

Nienke Dosa, MD, MHP 

David G. McLone, MD, PhD 

Shubhra Mukherjee, MD, FRCPC 

Donna Zahra, PhD, ARNP

First World Congress on Spina Bifida Research and Care 143
12:30 – 1:45 pm Lunch

1:45 – 5:30 pm Concurrent Breakout Sessions 

Topic areas: 

• Developmental Pediatrics 

• Neuropsychology 

• Nursing/Allied Health 

• Urology

Tuesday, March 17, 2009

6:45 – 8:00 am Continental Breakfast

7:30 – 8:00 am Overview from Previous Day 

Timothy Brei, MD, FAAP

8:00 – 8:40 am Nursing/Allied Health Keynote 

 Nursing Response to Families Living with 

Spina Bifida: Past, Present, and Future 

Robin Leger, RN, PhD

8:50 – 9:30 am Urology Keynote 

L ower Urinary Tract Refunctionalization by 

Somatic/Autonomic Nerve Root Transposition in 

Children with Spinal Cord Abnormalities 

Chuan-Guo Xiao, MD

9:40 – 10:00 am SBA/SBF Update 

Cindy Brownstein and Timothy Brei, MD, FAAP

10:00 – 10:15 am Morning Break

10:15 – 10:55 am Neuropsychology Keynote 

 Structural Changes and Dysfunction in 

the Hydrocephalic Brain 

Marc Del Bigio, MD, PhD

11:05 am – 12:30 pm Tethered Cord Panel 

Jeffrey Blount, MD, FACS, FAAP 

Robin Bowman, MD 

Gregory Olavaria, MD 

Elizabeth Yerkes, MD

144 The Future is Now
12:30 – 1:45 pm Lunch

1:45 – 5:30 pm Concurrent Breakout Sessions 

Topic areas: 

• Epidemiology/Genetics 

• Neurosurgery 

• Orthopedics 

• Transition

6:00 – 8:00 pm Reception 

Wednesday, March 17, 2009

6:45 – 8:00 am Continental Breakfast

7:30 – 8:00 am Overview from Previous Day 

David B. Joseph, MD

8:00 – 8:40 am Orthopedics Keynote 

 The Orthopedic Care of Children with Spina Bifida: 

What Have We Learned in the Last 30 Years? 

Luciano Dias, MD

8:50 – 9:30 am Hal Pote Memorial Lecture 

Judy Woodruff

9:40 – 10:00 am Award Papers

10:00 – 10:15 am Morning Break

10:15 – 10:55 am Dev elopmental Pediatrics Keynote 

Health Care and Spina Bifida: 

The Canary in the Coal Mine 

Gregory Liptak, MD

11:05 am – 12:30 pm Closing Remarks 

David Joseph, MD

2:00 – 5:00 pm Post Graduate Course (for registered attendees only)

First World Congress on Spina Bifida Research and Care 145
Full abstracts of the work presented during the 

First World Congress on Spina Bifida Research and Care are available at 

http://medicalconference.spinabifidaassociation.org.