summer 2004 | early developments 1

 Summer 2004 | Volume 8 #2 Fragile X Syndrome

FPG

Child

Development

Institute

The University of North Carolina

at Chapel Hillearlydevelopments
2 early developments | summer 2004 

news

FPG project featured on CNN 

show ■ Young adults who received early 

educational intervention had 

signifi cantly higher mental test 

scores from toddlerhood through 

age 21 than did untreated controls.

■ Enhanced language skills in the 

children appears to have mediated 

the effects of early intervention 

on cognitive performance.

■ Reading achievement scores were 

consistently higher for individuals 

with early intervention. 

■ Mathematics achievement showed 

a pattern similar to that for reading, 

with treated individuals earning 

higher scores. 

More information about the 

Abecedarian Study may be found at 

<www.fpg.unc.edu/~ABC/>

The Abecedarian Study, a longrunning FPG research project, was highlighted in a recent 

prime-time CNN show, “The Gap—50 

Years After the Brown Decision.” Dr. 

Frances Campbell, who directs the 

study, was featured in the show. 

The Abecedarian Project is a carefully 

controlled study in which 57 infants 

from low-income families were 

randomly assigned to receive early 

intervention in a high quality child 

care setting and 54 were in a nontreated control group. The treated 

children received full-time educational 

intervention in a high quality child care 

setting from infancy through age 5.

Investigators have now completed a 

young adult follow-up assessment 

of study participants. At age 21, 

cognitive functioning, academic skills, 

educational attainment, employment, 

parenthood, and social adjustment 

were measured. Major fi ndings of the 

young adult follow-up include these:
summer 2004 | early developments 3

ISSN 1536-4739

Editors

Pam Winton, Virginia Buysse

Writer

John Manuel

Designer

Gina Harrison

Photographers

Don Trull

John Cotter

Assistant Editor

Satsuki Scoville

www.fpg.unc.edu

www.ncedl.org

Early Developments is published three 

times a year by the FPG Child Development 

Institute at The University of North Carolina 

at Chapel Hill. 

To subscribe or

to change your address

contact Jay Hargrove

CB #8185, UNC-CH

Chapel Hill, NC 27599-8185

(919) 966-0888

hargrove@mail.fpg.unc.edu

To order additional copies

contact FPG Publications Offi ce

(919) 966-4221

FPGPublications@unc.edu

Periodicals postage paid at 

Chapel Hill, NC

Total design, production, & printing costs 

of this issue of Early Developments

were $8661. 

12,000 copies of this document were 

printed at a cost of $6441, or 53¢ each.

Photo Notes:

Stock Photo page 14;

Photos on pages 4, 9, 10, 16, courtesy 

of the Carolina Fragile X Project. Special 

thanks to the Hamilton family for their 

photos illustrating the article on page 

9 and from which the cover illustration 

was derived. 

|ed|

early developments

Summer 2004 | Volume 8 #2 

Director’s Notes

4

Going the Distance 

with Fragile X

6

All in the Family

9

Screening Newborns for 

FXS

11

The Behavioral 

Challenge

14

contents

Speech, Language, and 

FXS

16

Finding Clues in 

Family Videos

18

Fragile X Info Center

19

Learn More About 

FXS at FPG

20

FPG Publications

22
4 early developments | summer 2004 

I

N 1993, some colleagues and I 

began a study of a little-known 

disorder—fragile X syndrome. The 

gene for fragile X had just recently 

been discovered, and there was lots of 

excitement, for many reasons. Although 

the disorder had been described for 

more than 20 years and it was almost certainly inherited, 

what went wrong and how it was inherited was not known. 

Offi cials at the NIH were excited because it was one of 

the fi rst examples of how the Human Genome Project, a 

massive effort to “map” the human genome, could lead 

to discoveries pinpointing the causes of hundreds, if not 

thousands of disorders. Genetic researchers were excited 

because this discovery helped them to understand an 

unusual inheritance pattern that could not previously be 

explained. Many parents were excited because they fi nally 

had a better understanding of the disorder affecting their 

child. And the fact that fragile X is a single gene disorder 

gave hope to many that with the advent of gene therapy, a 

cure might be possible.

But of course, as with most discoveries, the answer to 

one question opened the door to many others. Knowing 

a gene fl aw or “mutation” doesn’t mean that you know 

everything about how it works. Genes, which are made 

up of DNA, provide instructions for making RNA, which 

then leads to proteins, which control all aspects of 

human biological function. Fragile X syndrome affects the 

production of a single protein (FMRP) 

known to be necessary for normal brain 

development. While much progress has 

been made in understanding the biology 

of fragile X syndrome, many mysteries 

remain unsolved, and a cure seems just 

as far away today as it did in the early 

1990s.

Of course, we don’t do basic biological research at FPG. 

But we do study children’s development and behavior 

over time, and we are very interested in both the biological 

factors and the environmental factors that affect behavior 

and development. When we started our research in 1993, 

no one had studied the earliest development of children 

with fragile X. So we began an early childhood study, 

starting with children in North Carolina, South Carolina, 

and Virginia under the age of six. Finding nearly a hundred 

families of young children with fragile X was quite a 

challenge. But with the help of a great research team and 

lots of people willing to help, we did it. We have been 

tracking these children ever since, and some of the oldest 

are now getting ready to enter high school. Along the 

way we have involved professionals from many different 

disciplines and have examined the many ways in which 

fragile X can affect both children and families. These 

studies are still under way, and we are now in the midst of 

planning a very large study to screen 1,000,000 newborns 

for fragile X.

Director’s 

Notes 

by Don Bailey
summer 2004 | early developments 5

This work has been immensely gratifying. Many different 

people at FPG and across the university are now actively 

involved in fragile X research. With a strong publication 

record and the most comprehensive longitudinal study of 

fragile X ever conducted, we are well positioned to continue 

this work into the future. However, what we have learned 

from all of this goes well beyond our publications and well 

beyond fragile X.

X Biology is just as complicated as behavior. Compared 

with human development, which is enormously 

complicated and almost defies a “scientific” 

explanation, I thought biological function was 

relatively straightforward. In fact, genes regulate a 

complicated biological system with many different 

interactions and pathways that may never be fully 

understood. Although fragile X was thought to be 

a single gene disorder involving a single protein, in 

reality, it likely regulates and interacts with many 

other genes and many other proteins in a complex and 

changing pattern.

X No one person or one discipline can fully understand 

any phenomenon. Over the years we have worked 

with psychologists, neurologists, psychiatrists, special 

educators, genetic counselors, anthropologists, speech 

and language pathologists, occupational therapists, 

and many others who have helped to provide insights 

into the multifaceted aspects of this disorder.

X A focus on a single disorder still allows you to address 

“big” issues. For example, we now have the technology 

and knowledge to identify many disorders earlier than 

we currently are. Is it worth the investment needed 

to identify disorders earlier? Our work on newborn 

screening for fragile X will serve as a prototype for 

early detection of other disorders.

X You don’t always know where your research will lead 

you. We started with a small study looking at some 

focused areas of development. One thing that has led 

to our success has been our willingness to look beyond 

the parameters of what we were funded to do. When 

we find something interesting, we study it.

X Good research takes a long time. Of course, we would 

all like immediate answers to questions. After more 

than 10 years, you would think we would have fragile 

X figured out. Although we know a lot more now than 

we did when we began, much remains to be learned. 

This is especially true when you do research that looks 

at how lives change over time.

I cannot end this column without acknowledging several 

groups of people. First, are all of the individuals who have 

worked on this project throughout the years. I hesitate to 

mention names, because there are too many, but you know 

who you are. Suffice it to say that this has been a true team 

effort.

Second, we appreciate the support of many different 

agencies and foundations. We have received funding from 

the Office of Special Education Programs, the National 

Institute for Child Health and Human Development, the 

FRAXA Foundation, the National Fragile X Foundation, and 

Ronald McDonald House Charities.

Finally, throughout this project, we have had the privilege 

of getting to know a group of remarkable families. They 

have allowed us to study just about every aspect of their 

children’s lives and now their families’ lives as well. They 

have been amazingly tolerant and giving of their time and 

energy, hoping that this work will ultimately pay off. And 

they have inspired us to continue. We dedicate this work to 

them. |ed|
6 early developments | summer 2004 

Going the 

Distance 

with 

Fragile X

ELEVEN YEARS AGO, FPG Child Development Institute (FPG) launched a 

longitudinal study of a little known form of mental retardation known as 

fragile X syndrome (FXS). The Carolina Fragile X Project has since grown 

into a multidisciplinary team studying diverse aspects of the condition, ranging 

from early identification to school performance. The team’s research has led to 

wide understanding of what constitutes the condition, how it can be detected, 

strategies for intervention, and how to help families cope. 

FPG researchers have published thirty-two journal articles and chapters on 

FXS and many more are in the works. The team is working on seven different 

grants totaling more than $2.2 million a year. Next spring, FPG will publish a 

book on early intervention for young children with FXS. FPG Director Don Bailey 

has written the definition of fragile X for the online version of the World Book 

Encyclopedia. 

“You could say we have put fragile X on the map,” Bailey says.

What is fragile X?

Fragile X syndrome is the most common inherited form of mental retardation. 

First described as Martin-Bell syndrome in 1943, it became known as fragile X 

syndrome in 1969 when Herbert Lubs discovered an unusual constriction and 

occasional break at the end of the X chromosome. 

In 1991, scientists discovered that FXS results from a mutation known as a 

trinucleotide repeat expansion, in which a series of three nucleotides (CGG) in 

the DNA is expanded beyond its normal size. This genetic mutation disrupts 

A Fragile X Glossary

autism: a complex developmental 

disability that typically appears during 

the first three years of life

FMRP: protein necessary for brain 

development. Production is affected 

by fragile X syndrome; appears to be 

involved in synapse maturation and 

elimination

fragile X syndrome: the most 

common inherited form of mental 

retardation. Effects can vary from 

subtle developmental delays to major 

impairments

full mutation [of FXS]: is indicated 

by 200 or more repeats of the DNA 

sequence mutation; individuals will 

experience the impairments and delays 

associated with the syndrome

genotype: the genetic makeup, as 

distinguished from the physical 

appearance, of an organism or a group 

of organisms

hyperarousal: a tendency to become 

easily overstimulated and to overreact 

to changes in environment or routines

hyposensitivity: less than the normal 

ability to respond to stimuli

Individuals with Disabilities Education 

Act (IDEA): the law that guarantees 

all children with disabilities access to a 

free and appropriate public education, 

and provides services and resources to 

infants and toddlers with disabilities 

and their families

phenotypic expression: the observable 

physical or biochemical characteristics 

of an organism, as determined by both 

genetic makeup and environmental 

influences. In reference to fragile X, 

refers to how the disorder appears in 

people’s behavior, development, and 

physical features

premutation carrier [of FXS]: is 

indicated by 50–200 repeats of the 

DNA sequence mutation; individuals can 

transmit the disorder to their children, 

but may not be affected themselves

vagal tone: an index of neural control of 

the heart

6 early developments | summer 2004 
summer 2004 | early developments 7

Research Focus

the messages sent to make FMRP, a protein necessary 

for normal brain development. The normal range of CGG

sequences is 5–50 repeats. An individual with 50–200 

repeats is a premutation carrier of FXS, meaning they can 

transmit the disorder to their children, but may not be 

affected themselves. Individuals with 200 or more repeats 

have the full mutation of FXS and will experience the 

impairments and delays associated with the syndrome. 

For individuals with FXS, effects can vary from subtle 

developmental delays to major impairments. Males with 

the full mutation are more severely affected than females. 

Most males will have mild to severe mental retardation 

with cognitive and communication skills most likely to be 

affected. They may seem shy, anxious, and inattentive. 

Hyperarousal, a tendency to become easily overstimulated 

and to overreact to changes in environment or routines, 

is a common condition. Males have several distinguishing 

physical features, including large ears, loose joints and 

muscles, and an elongated face.

Females generally have milder impairments. About one 

third will exhibit normal development, another third will 

exhibit learning disabilities, and about one third will have 

mental retardation. Females with FXS may also be shy and 

exhibit social problems.

The early years

The foundation of the Carolina Fragile X Project began with 

a series of longitudinal studies following the development 

of children with FXS beginning in preschool. Initially funded 

by the Office of Special Education Programs in the US

Department of Education, these studies have been headed 

by Bailey with co-investigator Deborah Hatton. The first 

study, begun in 1993, focused on a group of 75 preschool 

boys. Successive grants in 1995 and 2001 have followed this 

same group of boys through elementary and middle school. 

A separate study on young girls was initiated in 1996.

Collectively, those studies have yielded a wealth of 

information on FXS. They suggest that although parents 

usually notice problems much earlier, the typical child 

with FXS is not diagnosed as developmentally delayed 

until 21 months and not formally diagnosed with FXS

until 32 months. They show considerable variability in 

early development, with some children progressing much 

faster than others. Boys have been found to have a higher 

activity level, to be slower to adapt to new situations, to be 

less persistent and more withdrawn than typical children. 

Roughly one quarter of boys with FXS are also classified as 

autistic, and experience more serious delays than children 

with autism or FXS alone. 

Researchers also have collected information about the 

early intervention or educational services that children 

with FXS receive, as well as parental perceptions of these 

services. This work led to a major “synthesis” conference 

in 2004 where experts discussed the features of an early 

intervention program most likely to be successful for 

children with FXS. Researchers are now planning a large 

study to determine the effectiveness of earlier intervention. 

School performance is a crucial part of the longitudinal 

studies. Analysis of elementary school experiences shows 

that by second grade, most boys are placed in self-contained 

classrooms that only serve children with disabilities and 

that by age 8, many children still experience challenges in 

performing basic functioning skills. Data on middle school 

performance are now being collected.

1993

|

Carolina 

Fragile X

Project 

1996

|

Characteristics 

of Girls 

with FXS

1996

|

Language

Development & 

Speech 

Characteristics 

in Boys 

with FXS

 

1996

|

FMRP 

& Variability 

of FXS 

1998

|

Physiological/ 

Behaviorial 

Variables in Boys 

with FXS

1999

|

Early

Indicators

of FXS
8 early developments | summer 2004 

Further refinement and recent studies

Beginning in the mid-90s, FPG researchers began expanding 

the scope of their research, looking at particular aspects of FXS. 

n In a 1996 study funded by the National Institute on 

Disability and Rehabilitation Research, Joanne Roberts 

and Penny Mirrett examined the language development 

and speech characteristics of boys with FXS. 

n In another study, Bailey and co-investigators Hatton 

and Annette Taylor examined the relationship between 

levels of FMRP, the protein affected by FXS, and the 

variability in effects of FXS on individuals. 

n Bailey and Jane Roberts investigated the relationship 

between physiological and behavioral variables in boys 

with FXS.

n In 1998, Jane Roberts received a grant from the FRAXA

Foundation to examine classes of medication and their 

effects on the physiological and behavioral responses 

of boys with FXS. 

n The following year, Bailey, Hatton, Roberts, and Mirrett 

launched an investigation of the early development 

of infants, identified the earliest indicators of the 

syndrome, examined issues related to early screening 

of infants, and evaluated the usefulness of screening 

protocols used by pediatricians and other clinicians. 

This study has led to a planning grant from the NIH to 

develop a study for newborn screening for FXS.

Since the year 2000, FPG researchers have focused 

much of their research on children’s development and the 

experience of families of children with FXS. 

n Joanne Roberts and co-investigator David Zajac of 

the School of Dentistry are continuing their research 

into speech and language with three studies funded 

by the National Institute of Child Health and Human 

Development and the March of Dimes. One is studying 

the language development of three groups of preschool 

and early elementary-aged boys—one group with FXS, 

another with Down syndrome, and one with typical 

development. The other two projects are examining the 

hearing, speech, and language development of young 

boys with FXS compared to young boys without the 

disorder.

n Bailey and co-investigators Hatton, Stephen Hooper, 

Peter Ornstein, Jenni Schaaf, and Martie Skinner are 

midway through a project on Attention, Memory, 

and Executive Function in FXS. This project seeks to 

determine how children with FXS attend to important 

signals in their environment, remember key events and 

facts, and use this information to make decisions and 

solve problems.

n Bailey and colleagues were awarded a major center 

grant from the National Institute for Child Health and 

Human Development. Entitled Family Adaptation to 

Fragile X Syndrome, this project seeks to describe and 

explain the variation in the extent to which parents 

of children with FXS experience a positive quality of 

life; construct environments that promote cognitive, 

language, academic, and adaptive development in their 

children; and promote social-emotional development 

and address challenging behaviors in their children 

with FXS.

“The amazing thing about this research is the many 

directions it has led us over the years,” says Bailey. “We 

have learned so much from the children, from families, and 

from other researchers that has caused us to keep asking 

new questions and seeking new answers. Our ultimate 

goal is to do research that helps to shape future policy 

decisions about early identification and early intervention 

that provides appropriate support for both children and 

families.” |ed|

Current Efforts

2000

|

Family 

Adaptation 

to FXS 

2001

|

Language 

Development:

Boys with & 

without FXS,

Boys with 

Down 

Syndrome

2001

|

Attention

Memory,

& Executive

Function:

Children 

with & 

without 

FXS

2001

|

Hearing:

Boys with & 

without FXS

2003

|

Speech:

Boys with & 

without FXS,

Boys with 

Down 

Syndrome

2003

|

Planning

Newborn

FXS

Screening
summer 2004 | early developments 9

All in 

the 

Family

MUCH RESEARCH HAS BEEN CONDUCTED on the underlying biology of fragile 

X syndrome. Investigators are also well on their way to understanding 

and describing how FXS affects behavior and development. By 

comparison, little attention has been paid to the family consequences of 

fragile X. With the funding of FPG’s Fragile X Research Center, that is beginning 

to change.

The Fragile X Research Center is a joint effort between The University of North 

Carolina at Chapel Hill and the University of Kansas. Its aim is to understand 

how families cope with FXS and what might be done to help support families. 

Eleven investigators from six disciplines—anthropology, developmental 

psychology, special education, speech and hearing sciences, quantitative 

psychology, and psychiatry—are collaborating in this effort.
10 early developments | summer 2004 

Why bother to study the family 

consequences of FXS? “In some 

respects, the challenges that families 

of children with FXS face are similar 

to those of children with other 

disabilities,” says Don Bailey, FPG

director and head of the Fragile X 

Research Center. “But in many ways, 

the family dimensions of FXS are 

unique. This is particularly true in 

the areas of children’s learning, their 

behavior problems, and the inherited 

aspects of the disease.”

Most children with FXS have 

signifi cant developmental delays 

that impact school performance and 

independent functioning. Families 

must constantly work to organize their 

home and fi nd specialized services 

to help their child learn language, 

cognitive, and academic skills.

Children with FXS may also exhibit 

a wide range of behavioral and 

emotional problems, including social 

anxiety, self-injury, autistic behavior, 

and other challenging behaviors. 

Parents must deal with the stress and 

burden of regulating emotion and 

problem behavior to help their child 

adapt to the larger world. 

“We’ve found that although a child’s 

learning problems can be hard for 

families, it is the behavioral problems 

that are more likely related to serious 

family stress,” Bailey says. “Families of 

children with FXS may not be able to 

take their child out to a restaurant or 

the mall without that child acting out 

in some fashion. That can dramatically 

alter the family’s life.”

Bailey says FXS is also unique for 

families in that it is inherited. Usually 

parents give birth without realizing 

they have the gene that carries the 

disease. Individuals who carry the 

gene must decide when and how 

to tell other family members and 

encourage them to get genetic testing. 

Women with the gene must consider 

that they risk having 

additional children with 

FXS. Mothers of children 

with FXS may feel 

guilty and suffer from 

depression. Mothers 

who have the full 

mutation themselves 

may face challenges 

in caring for their 

children.

The Center is following three 

broad aims in its research. The fi rst 

is to describe and explain the extent 

to which parents of children with 

FXS experience a positive quality of 

life, are hopeful for the future, and 

are protected from adverse mental 

health outcomes (such as anxiety 

or depression). The second is to 

describe and explain the extent to 

which parents are able to provide 

environments that promote their 

children’s cognitive, language, 

academic, and adaptive development. 

The third aim is to describe and 

explain the extent to which parents 

are able to promote social-emotional 

development and deal with 

challenging behaviors.

Center investigators are 

collaborating on three projects 

involving a total of one hundred 

families. Data are being collected 

using a range of methods, including 

surveys, semi-structured interviews, 

ethnographic interviews, and direct 

observation.

“We aren’t just looking at the 

negative consequences for families,” 

Bailey says. “Many families have 

rallied together, fi nding a common 

purpose in helping their child cope 

with this disease. In fact, we have met 

many remarkable families who inspire 

all of us with the amazing things they 

have done.”

“Ultimately, we are trying to 

understand why some families do well 

and others are more challenged,” he 

adds. “Understanding this will help us 

provide the proper supports 

to families that 

need them. 

The bottom line 

is helping them 

achieve the quality 

of life for which 

they hope.”

The Fragile X 

Research Center is 

funded by the National 

Institute of Child Health and 

Human Development. The Center was 

awarded $6 million for a fi ve-year 

period beginning in July of 2003. |ed|

Acknowledgment: We are grateful to the Hamilton 

family for sharing photos from their family 

vacation album for this article. 

... although a child’s learning problems 

can be hard for families, 

it is the behavioral problems 

that are more likely related to 

serious family stress ...

additional children with 

. Mothers of children 

The Center is following three 

broad aims in its research. The first 

adds. “Understanding this will help us 

provide the proper supports 

to families that 

The bottom line 

is helping them 

achieve the quality 

of life for which 

they hope.”

The Fragile X 

Research Center is 

funded by the National 

Institute of Child Health and 
summer 2004 | early developments 11

K

ATHY MAY noticed there was 

a problem with her son, Sam, 

within weeks of his birth. He 

was not easy to console and always 

seemed to keep his hands clasped. At 6 

weeks, she tried unsuccessfully to get 

Sam to look at her when she clapped 

her hands. At 15 months, Kathy’s 

doctor expressed concern that Sam’s 

language development was behind. 

She took Sam to an early intervention 

service provider who, suspecting 

he was autistic, recommended that 

he be tested at the local children’s 

hospital. At 20 months, the diagnosis 

was confirmed—Sam had fragile X 

syndrome.

Compared to most families of 

children with FXS, the Mays were 

fortunate. Sam was diagnosed with FXS

earlier than most children. According 

to a recent FPG study, the average boy 

with FXS is not diagnosed with FXS

until nearly 3 years of age, and many 

are only identified much later. Had 

these children been identified earlier, 

they would have been immediately 

eligible for early intervention services 

under the Individuals with Disabilities 

Education Act.

FPG’s study revealed another 

consequence of the late determination 

of FXS—more than half of the families 

surveyed had additional children 

without knowledge of the reproductive 

risk. Of the 191 children who were 

born to these families after the birth of 

their first child with FXS but before the 

FXS diagnosis, 109 (57%) also had FXS. 

Thus, a substantial proportion of the 

families ended up with two children 

with the disorder, imposing additional 

caregiving demands and stress. 

“Our study showed that parents 

perceive the discovery of FXS as a 

process that takes too long,” says Don 

Bailey, director of FPG. “One alternative 

is to establish a program of newborn 

screening.”

Screening 

Newborns 

for Fragile X summer 2004 | early developments 11
12 early developments | summer 2004 

With the discovery that FXS is a genetic disorder and 

the subsequent development of accurate DNA testing, it is 

now possible to genetically screen the population for FXS. 

Possible approaches include screening the following groups: 

women of childbearing age, pregnant women, newborns, 

and children at the first sign of developmental delay. 

FPG researchers have concluded that newborn screening 

provides distinct advantages over the other options. 

Whether that policy will become widespread remains to be 

seen.

In the US, states determine whether to screen newborns 

for genetic disorders, which disorders to screen for, how to 

finance screening, and what follow-up mechanisms are in 

place to provide for treatment and support. Currently, all 

states mandate screening of newborns for phenylketonuria 

(PKU) and congenital hypothyroidism, and all states but one 

screen for galactosemia and sickle cell disease. Beyond that, 

there is wide variability among the states as to what they 

screen for.

The question of which disorders to screen for remains 

the subject of considerable debate among policymakers, 

medical professionals, and the general public. Currently 

accepted guidelines rest on three fundamental criteria: 

1) the disorder must be a significant public 

health problem that has major 

consequences for affected individuals, 

2) an accurate, acceptable, and costeffective procedure for screening the 

disorder must be available, and 

3) a treatment must exist which, if 

provided early, can significantly alter 

the course of the disease or disorder.

Bailey contends that FXS clearly meets the first of these 

criteria and could soon meet the second and third. “A 

recent review estimates that at least 1 in 4000 males are 

born with the full-mutation FXS, and 1 in 270 females may 

be a carrier. FXS exerts a clear and devastating effect on 

affected individuals, especially males, resulting in moderate 

to severe mental retardation, high levels of anxiety and 

arousal, and frequent instances of autism and self-injurious 

behavior. On that basis, I would contend that FXS presents a 

significant public health problem.”

With respect to the second criterion, Bailey finds that 

while DNA testing for FXS is virtually 100% accurate, it is 

expensive, averaging between $200–$300 per test. However, 

new technologies may soon lower costs considerably. “It is 

quite likely that the cost of screening could be reduced to 

$10–$20 per child in the next 2–3 years, and other methods 

could be even cheaper,” he says.

Currently, there are no medical treatments available 

for FXS, thus, this disorder does not appear to meet the 

third criterion (a treatment is available) using traditional 

standards. However, nonmedical treatment by early 

intervention programs may improve development among 

individuals with FXS and thus could be considered to alter 

the course of the disorder. “Recent research suggests that 

FMRP, the protein disrupted by FXS, 

appears to be involved in synapse 

maturation and elimination,” Bailey 

says. “If so, the most powerful 

interventions may be those that could 

be provided early in life during the 

period of rapid proliferation and 

pruning of neural connections.

... at least 

1 in 4000 males 

are born with 

the full-mutation 

FXS, and 

1 in 270 

females may be 

a carrier.

12 early developments | summer 2004 
summer 2004 | early developments 13

“These facts and hypotheses, 

coupled with the existence of 

a nationwide system of services 

readily available for infants with 

disabilities, provide a strong logical 

basis in support of early intervention for 

children with FXS,” Bailey says.

There are a number of negative 

consequences for delayed identification 

of FXS. Parents experience frustration 

with professionals and doubts about 

themselves in their attempts to find a 

professional who will acknowledge that 

their child’s development is atypical. 

Families, insurance companies, and 

the health care system face significant 

financial costs for the repeated visits 

that often happen before a diagnosis is made. Children 

and families miss out on the access to early intervention 

services provided by the Individuals with Disabilities 

Education Act (IDEA). Finally, families do not have access 

to information about carrier status of parents and thus may 

make future reproductive decisions without knowledge of 

the risk that a child will have FXS.

Nonetheless, routine screening for FXS will not likely 

happen in the next 3–5 years since it does not fully meet 

the existing criteria for newborn screening, and also due to 

concerns about negative consequences for children (e.g., 

stigmatization), and controversies over issues related to 

reproductive decision-making and screening for carrier 

status.

To help make decisions about the desirability of newborn 

screening, Bailey has embarked on an ambitious project. 

With planning grants from the National Institute of Health, 

the Maternal and Child Health Bureau, the Centers for 

Disease Control and Prevention, and the National Fragile 

X Foundation, he and his colleagues are developing plans 

for a massive research project. The goal is to conduct a 

study to determine the costs and benefits 

of newborn screening for FXS. To do so 

will require screening 1,000,000 newborns 

4 of all children born in the US in a 

given year) and conducting follow-up monitoring 

and intervention studies with those 

who have FXS. 

The Human Genome Project has led 

to a dramatic increase in the number of 

known genetic causes of developmental disability. 

With rapid changes in technology, soon it will be possible 

to screen for many of these conditions, perhaps hundreds 

of them, as cheaply and easily as one. But just because 

screen for them, does that mean we should? “This 

study is important,” says Bailey, “not only because of what 

FXS, but also about newborn screening 

for other disorders. We’re about to enter a new era of 

genetic information, and research is desperately needed so 

that when policy decisions are made, they can be informed 

by solid research.” |ed| 

summer 2004 | early developments 13

“These facts and hypotheses, 

coupled with the existence of 

a nationwide system of services 

readily available for infants with 

disabilities, provide a strong logical 

basis in support of early intervention for 

,” Bailey says.

There are a number of negative 

consequences for delayed identification 

. Parents experience frustration 

with professionals and doubts about 

themselves in their attempts to find a 

professional who will acknowledge that 

their child’s development is atypical. 

Families, insurance companies, and 

the health care system face significant 

financial costs for the repeated visits 

study to determine the costs and benefits 

of newborn screening for 

will require screening 1,000,000 newborns 

(about 1/4

given year) and conducting follow-up monitoring 

to a dramatic increase in the number of 

known genetic causes of developmental disability. 

With rapid changes in technology, soon it will be possible 

to screen for many of these conditions, perhaps hundreds 

of them, as cheaply and easily as one. But just because 

we can screen for them, does that mean we 

study is important,” says Bailey, “not only because of what 

it can tell us about FXS

for other disorders. We’re about to enter a new era of 
14 early developments | summer 2004 

The Behavioral 

Challenge

WHEN 3-YEAR-OLD JASON WAS PRESENTED WITH A NEW CHILD CARE

PROVIDER, he began to bite the back of his own hand. He would not look 

at the woman, despite his mother’s attempts to introduce them. At one 

point, Jason swung at his mother, hitting her on the leg with his tiny fi st. 

“I don’t know what to do with him when he gets like this,” Jason’s mother 

said. “It’s making my life really diffi cult.”

According to FPG research, behavior, rather than cognitive delays, may be the 

greatest concern of parents and teachers of children with fragile X syndrome. 

Not every child with FXS exhibits serious problems, but many do, and that has 

prompted the research community to examine how a child’s genetics, brain, 

behavior, and environment act as a result of this single gene disorder.

Deborah Hatton, co-principal investigator of the Carolina Fragile X Project, 

has been conducting longitudinal studies of temperament and behavior of 

children with FXS since 1994. Temperament refl ects biologically-based individual 

differences, while behavior refl ects how a child acts out his or her feelings. 

“Temperament and behavior challenges of children with FXS range from shyness 

to aggression toward others or self, and are more common among boys with the 

condition than among girls,” Hatton says.

 Hatton’s early studies, based on parent questionnaires completed annually 

over a 5–year time period, revealed that 3- to 8-year-old boys with FXS are 

signifi cantly more active and less adaptable, approachable, persistent and intense 

than typically developing boys of the same age.

“Parents noticed the same behaviors in their boys that we observed during our 

study: high activity, attention problems, and withdrawing behaviors,” Hatton 

says. “We also found considerable variability in the behavior of boys in the 

study.” 

More recently, Hatton’s research on boys between the ages of 4 and 12 showed 

that nearly half (49%) scored within the borderline or clinically signifi cant range 

on total behavior problems, while more than half (57%) scored in that range on 

the attention and thought problems. Boys with autistic behavior were more likely 

to have high scores on thought problems and social problems. Studies show that 

25–47% of boys with FXS display autistic behavior.

In her research, Hatton looked for a correlation between maternal education 

and reported problem behavior. Interestingly, mothers with higher education 

reported more problem behavior, and thought and attention problems, than 

did their less educated peers. Boys who were taking medication had more total 

problem behavior, more internalizing problems, and more social problems. 

Attention seemed to be an area of particular concern. 

14 early developments | summer 2004 
summer 2004 | early developments 15

Other research found that 73% of boys with FXS met 

diagnosed criteria for attention defi cit hyperactivity disorder 

(ADHD) compared to 33% of their age and IQ matched 

peers. Boys with FXS are also likely to engage in selfinjurious behavior at some point in their lives. Hatton’s 

colleague Frank Symons found that hand biting is a 

common form of self-injury in children with FXS, and most 

likely to be evidenced when the child’s preferred routines 

were disrupted, when requests were made of the child, or 

when the child was faced with a diffi cult task. 

FPG’s research suggests there is an underlying 

physiological basis for the emotional and self-regulation 

problems of children with FXS. FPG investigator Jane Roberts 

has examined the relationships between physiological 

arousal, as indexed by heart rate variability, and vagal tone 

(an index of neural control of the heart) in boys with FXS

compared to a control group of typically developing boys. 

Results suggest that boys with FXS have higher heart rates, 

even when resting. Furthermore, they did not display 

expected patterns of heart activity in response to phases of 

increasing challenge. Other researchers have reported that 

children with FXS displayed elevated levels of electrodermal 

activity (perspiration measured on fi nger tips) during a 

variety of sensory tasks and that they may have higher 

levels of the stress hormone cortisol. All of this evidence 

suggests that there may be an underlying physiological 

basis for the behaviors observed in children with FXS.

FPG’s recent work indicates that the temperament 

and behavior of children with FXS may change radically 

between infancy and 12 years of age. According to Hatton, 

infants appear to be under-responsive to sensory stimuli, 

while preschool aged children are overly responsive. “In 

our studies of preschool children, we were struck by their 

high activity, low attention and adaptability, impulsivity, 

hypersensitivity to sensory stimuli, and reluctance to 

approach new people or situations,” she says. “In contrast, 

our clinical impressions of infants with FXS at 9, 12, 

and 18 months suggests a general hyposensitivity (lack 

of response) in longitudinal observational protocols of 

temperament, development, and sensory function.” 

Families face particular parenting challenges in 

dealing with children with FXS. Research suggests that 

parental characteristics and child temperament interact 

to infl uence family adaptation and child outcome over 

time. Positive outcomes occur when families adapt levels 

of environmental demand to meet the temperamental 

characteristics of the child, a concept known as 

“goodness-of-fi t.” Unresponsive or poor parenting can 

exacerbate challenging behaviors and the temperamental 

characteristics of irritability, distress, and negativity.

“A parent who is laid back and calm and who has little 

structure to daily routines may be well suited to a fussy and 

highly sensitive infant,” Hatton explains. “A parent who 

is rigid, highly structured, and anxious may fi nd such an 

infant more challenging.”

Recently, FPG has been awarded a grant to study Family 

Adaptation to Temperament and Challenging Behavior in 

FXS. Hatton is principal investigator of this project and 

Steve Reznick is co-principal investigator. Jane Roberts is 

examining physiology in the children in the study to see 

how it relates to 

temperament and 

behavior. 

“The behavior 

of children with 

fragile X syndrome 

is intriguing—

particularly the 

changes that we 

have observed 

clinically over 

time,” Hatton says. 

“The possibility of 

linking behavior 

to physiological 

characteristics, 

such as heart rate, 

and to genetic 

variables, is 

exciting. While 

learning more 

about the behavior 

of children with 

FXS, we will 

also be searching for strategies that families and teachers 

can use to promote positive behavior in these children. 

If behavioral problems are controlled, children will be 

more likely to experience success developmentally and 

academically, and parents and teachers will experience less 

stress. This research has the potential to improve the lives 

of children and families and the professionals who work 

with them.” |ed| 

summer 2004 | early developments 15

Positive outcomes 

occur when families 

adapt levels of 

environmental 

demand to meet 

the temperamental 

characteristics 

of the child, 

a concept known as 

“goodness-of-fi t.”
16 early developments | summer 2004 

Speech, 

Language, 

and FXS A

SK FIVE-YEAR-OLD DAMON A QUESTION and his 

response is likely to be diffi cult to understand. 

When he meets new people, he becomes very 

quiet and avoids eye contact. Seven-year-old 

Tim answers questions in short sentences, 

but often is not on the topic being discussed. 

Tim and Damon’s speech characteristics are typical of 

boys with fragile X syndrome (FXS)—girls who carry 

this genetic mutation are considerably less affected. 

By identifying these characteristics early in childhood, 

researchers at FPG hope to aid in the assessment of 

children with FXS and prescribe intervention strategies that 

will improve the speech and language of these children as 

they mature into adults.

Research into speech and language diffi culties among 

young boys with FXS began at FPG in 2001 under the 

direction of Joanne Roberts, FPG senior scientist and 

professor of pediatrics and speech and hearing sciences 

at the University of North Carolina at Chapel Hill. Roberts 

and co-investigators David Zajac and Jack Roush are 

assisted by two post-doctoral fellows, Elizabeth Hennon 

and Beth Barnes, project coordinator Kathleen Anderson, 

and research staff Anne Edwards, Cheryl Malkin, Julia 

Jurgens, Lauren Moskowitz, and Siara Cowan. 

Funded by the National Institute of Child Health and 

Human Development (NICHD) and the March of Dimes, 

the studies are examining the language of young boys 

with FXS in comparison to boys with Down syndrome and 

typically developing boys; and whether young boys with 

FXS have atypical hearing and auditory processing. The 

studies are also investigating the factors affecting poor 

speech intelligibility in conversational speech of young 

boys with FXS.
summer 2004 | early developments 17

Roberts says most males with 

FXS will show moderate-tosevere delays in communication 

skills. “Phonological difficulties 

are common, including 

consonant substitutions 

and omissions, which is 

characteristic of developmentally 

younger children,” she says. 

“Conversational speech is often 

unintelligible, although singleword utterances often are 

understandable.”

Other speech characteristics 

of some males with FXS include a rapid and fluctuating 

rate, and repetitive speech. Males may also have trouble 

repeating multisyllabic sequences and may demonstrate 

oral motor difficulties.

With respect to language, boys with 

FXS often have delays in grammatical 

and vocabulary development. Some 

boys may have atypical pragmatic 

language, including frequent 

repetition of words, sentences, and 

topics, poor topic maintenance in 

conversation, difficulty answering 

direct questions, and gaze aversion.

“The cause for these pragmatic 

impairments has often been 

attributed to hyperarousal, although 

word retrieval difficulties, syntactic 

difficulties, and executive function 

deficits also have been cited as 

possible causes,” Roberts says. 

Males with FXS often have 

prominent ears, although they do not 

appear to have hearing difficulties, 

Roberts says.

FPG’s studies are among the 

first in the nation to examine the 

communication development of 

young children with FXS. Roberts 

hopes that her findings will aid both 

in the assessment of children with 

FXS and in developing appropriate 

intervention strategies. Because 

physical characteristics associated 

with FXS are not present in early 

childhood, language impairments 

may offer the first sign of the 

condition. Roberts hopes that her 

research will lead to increased 

awareness of these speech and 

language impairments and, thus, 

earlier detection.

The cause of an individual’s 

speech and language difficulties 

and the particular domains affected 

will have important implications 

for intervention, although the 

specific contributing factors may 

be difficult to define. For example, 

if unintelligible speech is due to 

difficulties with sound patterns, 

then intervention should focus on particular sounds 

or suppression of specific phonological processes. 

However, if difficulties relate to such things as rate 

of speech, then slowing the rate of 

speech would be useful. For children 

whose communication difficulties are 

particularly evident in conversation, 

using scripts and routines in more 

structured environments and 

transitioning to more naturalistic 

environments with peers, teachers, 

and family members whenever 

possible would be more useful.

“Our ultimate goal is to identify the 

types of intervention that are most 

appropriate for children with FXS,” 

Roberts says. “We want to know if 

there are specific strategies, different 

from those used with individuals with 

other forms of mental retardation, 

that we can recommend to help a 

child with FXS.” |ed|

FPG’s studies 

are among 

the first in 

the nation to 

examine the 

communication 

development of 

young children 

with FXS. 

Photo: Don Trull, FPG

Assessing speech and language skills 

involves pointing to pictures with verbal 

directions.
18 early developments | summer 2004 

Finding Clues in 

Family Videos

Home videos are a great tool for preserving a family record, 

and especially for capturing those phases of early childhood 

that seem to pass so quickly. Now, FPG researchers are using 

retrospective analysis of home videos as a way of detecting 

previously unnoticed signs of fragile X syndrome among children 

aged 9 to 12 months.

Signs of FXS are often very subtle among infants and toddlers 

and may not become obvious for months or even years. Even 

if parents suspect something may be wrong with their child, 

physicians may downplay their fears, believing that the child is 

at the late end of normal development, and defer developmental 

evaluations until later in the second year of life. The result is that 

FXS is typically not diagnosed (in children without a family history 

of developmental delays) until children reach two years of age. 

Valuable time is lost during which intervention strategies could 

have been used. Clearly, there is a need for better methods of 

early detection. But since children with FXS are rarely identified 

during the first year of life, studying their earliest development 

has been virtually impossible.

Grace Baranek, FPG researcher and associate professor in 

UNC’s Department of Allied Health Sciences, has used an 

innovative strategy—retrospective video analysis—to address this 

issue. This approach involves collecting home videos of children 

later diagnosed with developmental problems and analyzing 

them to see if unusual behaviors or delays can be detected. 

Raters are trained to view the videos and code a variety of social 

and sensory-motor behaviors in the context of natural daily 

activities. Her first study using this technique showed that by 9 

to 12 months of age, the behaviors of children later diagnosed 

with autism were markedly different from those of children with 

delayed or typical development.

Baranek has just completed video analysis research on FXS

conducted in a similar fashion to her autism research. She 

coded the same behavioral markers at 9 to 12 months, plus a 

few additional features such as repetitive movements that may 

reflect hyperarousal common to children with FXS. Findings 

so far confirm that even at this young age, children with FXS

do exhibit markedly different behaviors than their normally 

developing peers, and can also be differentiated from children 

with autism. 

“Infants with FXS were showing significant delays in the way they 

played with toys,” Baranek says. “We also observed a high level 

of unusual postures, reflecting motor difficulties.”

Baranek says her findings may not be practical yet. Although 

she has proved that early signs of developmental problems 

are evident during the first year of life, they may not be obvious 

to pediatricians or other professionals who don’t have the 

advantage of watching, rewatching, and coding videotapes. 

However, these findings provide important clues about how 

FXS is expressed in infancy and hopefully will stimulate other 

research on early development.

Furthermore, “awareness of these early features of FXS may 

help a clinician to select evaluation methods and interventions 

that target the family’s specific needs,” Baranek says. 

“For example, activities designed to promote play skills, or 

environmental modifications that support engagement in daily 

activities would be recommended.” ■

18 early developments | summer 2004 

Photo: Don Trull, FPG

Grace Baranek (upper left) examines home videos of 

infants at her laboratory with team members 

Fabian David and Cassandra Danko.
summer 2004 | early developments 19

PARENTS AND PROFESSIONALS SEEKING MORE INFORMATION ON

FRAGILE X will want to access FPG’s new website for the Fragile X 

Information Center (www.fpg.unc.edu/~fxic). The website provides 

a wealth of information, including the effects of FXS on young children, summaries of 

research findings, family experiences and intervention strategies, services available for 

children with disabilities, and how to advocate for those services. Lists of publications, 

personnel, and resources related to FXS are also included.

Jane Roberts, manager of the information center, says FPG’s website is geared 

toward those who want detailed and objective information on FXS and related 

disabilities with references to specific studies. The website content is written by a 

team of authors and reviewed by a panel of parents and professionals.

Parents who have previewed the site have given it positive reviews. “The fragile 

X website is an essential tool for educators and parents alike,” says Nichole Tooz, 

parent and educator. “Its friendly format provides relevant information that is 

not overwhelming or foreign, even to those new to fragile X. It addresses the 

most pertinent topics with a simple, yet thorough style. I personally have used 

information from this website in public presentations and with my son’s teachers 

and therapists. It has become an on-going resource, as the site is frequently 

updated with contributions from parents and professionals.”

In the future, FPG plans to add content in the areas of temperament, academic 

achievement, educational transitions, educational services, toilet training, social 

skills, sibling issues, disability laws, alternative therapies, effects in permutation 

carriers, mental health issues, and communication skills.

FPG’s Fragile X Information Center has been funded by a grant from the Ronald 

McDonald House Charities. Other funding sources include the Office of Special 

Education programs of the US Department of Education, the FRAXA Research 

Foundation, and the National Fragile X Foundation. Other websites available 

include those of the National Fragile X Foundation (www.fragilex.org) and the 

FRAXA Foundation (www.fraxa.org). |ed|

FragileXInfo Center

summer 2004 | early developments 19 Photo: John Cotter, FPG

Jane Roberts, manager of the Fragile X Info Center, monitors the website.
20 early developments | summer 2004 

Newborn screening for fragile X syndrome. Bailey, D. 

B. (2004). Mental Retardation and Developmental 

Disabilities Research Reviews, 10, 3–10.

Early development, temperament, and functional 

impairment in autism and fragile X syndrome. 

Bailey, D. B., Hatton, D. D., Mesibov, G., Ament, 

N., & Skinner, M. (2000). Journal of Autism and 

Developmental Disorders, 30, 49–59.

Early developmental trajectories of males with 

fragile X syndrome. Bailey, D. B., Hatton, D. D., & 

Skinner, M. (1998). American Journal on Mental 

Retardation, 103, 29–39.

Autistic behavior, FMR1 protein, and developmental 

trajectories in young males with fragile X 

syndrome. Bailey, D. B., Hatton, D. D., Skinner, 

M., & Mesibov, G. (2001). Journal of Autism and 

Developmental Disorders, 31, 165–174.

Variability in FMRP expression and early 

development in males with fragile X syndrome.

Bailey, D. B., Hatton, D. D., Tassone, F., Skinner, 

M., & Taylor, A. K. (2001). American Journal on 

Mental Retardation, 106, 16-27.

Autistic behavior in young boys with fragile X 

syndrome. Bailey, D. B., Mesibov, G., Hatton, D. 

D., Clark, R. D., Roberts, Jane E., & Mayhew, L. 

(1998). Journal of Autism and Developmental 

Disorders, 28, 499-508.

The nature and consequences of fragile X 

syndrome. Bailey, D. B., & Nelson, D. (1995). 

Mental Retardation and Developmental 

Disabilities Research Reviews, 1, 238-244.

Identifying infants and toddlers with fragile X 

syndrome: Issues and recommendations. Bailey, D. 

B., Roberts, Jane E., Mirrett, P., & Hatton, D. D. 

(2001). Infants and Young Children, 14(1), 24-33.

Family experiences and factors associated with 

diagnosis of fragile X syndrome. Bailey, D. B., 

Skinner, D., Hatton, D., & Roberts, Jane E. 

(2000). Journal of Developmental and Behavioral 

Pediatrics, 21, 315-321.

Discovering fragile X syndrome: Family experiences 

and perceptions. Bailey, D. B., Skinner, D., & 

Sparkman, K. (2003). Pediatrics, 111, 407–416.

Delayed diagnosis of fragile X syndrome—United 

States, 1990–1999. Bailey, D. B., Skinner, D., 

Sparkman, K., Moore, C. A., Olney, R. S., & 

Crawford, D. C. (2002). Morbidity and Mortality 

Weekly, 51, 740–742.

Sensory processing correlates of occupational 

performance in children with fragile X syndrome: 

Preliminary findings. Baranek, G. T., Chin, Y. 

H., Hess, L. M. G., Yankee, J. G., Hatton, D. D., 

& Hooper, S. R. (2002). American Journal of 

Occupational Therapy, 56, 538-546.

Behavior and autonomic nervous system function 

assessed via heart period measures: The case 

of hyperarousal in boys with fragile X syndrome. 

Boccia, M. L., & Roberts, Jane E. (2000). 

Behavior Research Methods, Instruments, and 

Computers, 32, 5-10.

Fragile X syndrome and autism. Hatton, D. D., & 

Bailey, D. B. (2001). In E. Schopler, L. Marcus, C. 

Shulman, & N. Yirmiya (Eds.), The research basis 

of autism intervention outcome (pp. 75–89). New 

York: Kluwer Academic/Plenum Publishers.

Behavioral style of young boys with fragile X 

syndrome. Hatton, D. D., Bailey, D. B., HargettBeck, M. Q., Skinner, M., & Clark R. D. (1999). 

Developmental Medicine and Child Neurology, 41,

625-632.

Early intervention services for young boys with 

fragile X syndrome. Hatton, D. D., Bailey, D. B., 

Roberts, J. P., Skinner, M., Mayhew, L., Clark, 

R. D., Waring, E., & Roberts, Jane E. (2000). 

Journal of Early Intervention, 23, 235-251.

Ocular status of boys with fragile X syndrome: 

A prospective study. Hatton, D. D., Buckley, 

E., Lachiewicz, A., & Roberts, Jane E. (1998). 

Journal of the American Association for Pediatric 

Ophthalmology and Strabismus, 2, 298-302.

Problem behavior in boys with fragile X syndrome. 

Hatton, D. D., Hooper, S. R., Bailey, D. B., Skinner, 

M., Sullivan, K., & Wheeler, A. (2002). American 

Journal of Medical Genetics, 108, 105–116.

Adaptive behavior in children with fragile X 

syndrome. Hatton, D. D., Wheeler, A. C., Skinner, 

M. L., Bailey, D. B., Sullivan, K.M., Roberts, J. 

E., Mirrett, P., & Clark, R.D. (2003). American 

Journal on Mental Retardation, 108, 373-390.

Nonverbal assessment of cognitive abilities in 

children with fragile X syndrome: The utility of the 

Leiter International Performance Scale-Revised. 

Hooper, S. R., Hatton, D. D., Baranek, G. T., 

Roberts, J. P., & Bailey, D. B. (2000). Journal of 

Psychoeducational Assessment, 18, 255-267.

Family and professional congruence in 

communication assessments of preschool boys with 

fragile X syndrome. Jackson, S. C., & Roberts, 

Joanne E. (1999). Journal of Early Intervention, 

22, 137-151.

Developmental screening and detection of 

developmental delays in infants and toddlers 

with fragile X syndrome. Mirrett, P., Bailey, D. 

B., Roberts, Jane E., & Hatton, D. D. (2004). 

Developmental and Behavioral Pediatrics, 25, 

21–27.

Early intervention practices and communication 

intervention strategies for young males with fragile 

X syndrome. Mirrett, P., Roberts, Joanne E., & 

Price, J. (2003). Language, Speech and Hearing 

Services in Schools, 34, 331.

Cardiovascular indices of physiological arousal 

in boys with fragile X syndrome. Roberts, 

Jane E., Boccia, M. L., Bailey, D. B., Hatton, 

D. D., & Skinner, M. (2001). Developmental 

Psychobiology, 39, 107–123.

Development and behavior of male toddlers with 

fragile X syndrome. Roberts, Jane E., Hatton, 

D. D., & Bailey, D.B. (2001). Journal of Early 

Intervention, 24, 207–223. 

Learn More About 

fxs@fpg
summer 2004 | early developments 21

FPG Fragile X Websites

Carolina Fragile X Project

www.fpg.unc.edu/~fx/

Communication of Young Males 

with Fragile X Syndrome

www.fpg.unc.edu/~carolinacommunicationproject/

Fragile X Information Center

www.fpg.unc.edu/~fxic/

Early communication, symbolic behavior, and social 

profi les of young males with fragile X syndrome. 

Roberts, Joanne E., Mirrett, P., Anderson, K., 

Burchinal, M., & Neebe, E. (2002). American 

Journal of Speech-Language Pathology, 11, 

295–304.

Receptive and expressive communication 

development of young males with fragile X 

syndrome. Roberts, Joanne E., Mirrett, P., & 

Burchinal, M. (2001). American Journal on 

Mental Retardation, 106, 216-230.

Screening for fragile X syndrome: Parent attitudes 

and perspectives. Skinner, D., Sparkman, K., & 

Bailey, D. B. (2003). Genetics in Medicine, 5, 

378-384.

Classroom behavior and academic engagement 

of elementary school-aged boys with fragile X 

syndrome. Symons, F. J., Clark, R. D., Roberts, 

J. P., & Bailey, D. B. (2001). Journal of Special 

Education, 34, 194–202.

Self-injurious behavior in young boys with fragile X 

syndrome. Symons, F. J., Clark, R. D., Hatton, D. 

D., Skinner, M., & Bailey, D. B. (2003). American 

Journal of Medical Genetics, 118A, 115–121.

National 

Fragile X Awareness 

Day

US Senator John 

Edwards (NC-Dem) joined 

researchers at FPG to 

declare July 21, 2000, 

as National Fragile X 

Awareness Day. The 

goal of the declaration 

was to increase public 

awareness of the need for 

research, early diagnosis, 

and treatment of FXS, a 

disease that Edwards 

said “remains unknown 

to the vast majority of the 

public and even to many 

physicians.”

Referring to the 

announcement at FPG, 

Edwards said, “I am proud 

of the efforts that the 

Carolina Fragile X Project 

has undertaken. It is fi tting 

that our commemoration 

is being held at one of 

the leading facilities in the 

nation for the treatment of those who inherited the syndrome.”

In 1999, Edwards and Sen. Chuck Hagel of Nebraska introduced a bill that 

would dedicate funds to establish research centers on FXS. The bill was 

incorporated and passed into law as part of the Children’s Health Act. The 

National Institutes of Health subsequently held a competition and funded three 

centers, including the one at FPG.

summer 2004 | early developments 21

Don Bailey (left) accepts the declaration 

from Senator John Edwards.

Photo: Don Trull, FPG
22 early developments | summer 2004 

fpg

f

or more information 

about FPG publications, 

see the FPG website at

www.fpg.unc.edu

or contact the 

FPG Publications Office at 

919•966•4221 or 

FPGpublications@unc.edu

Early Intervention Services Assessment Scale 

(EISAS)—Conceptualization and development of a 

program quality self-assessment instrument. Aytch, 

L., Castro, D., & Selz-Campbell, L. (2004). Infants 

and Young Children, 17(3), 236–246.

Newborn screening for fragile X syndrome.

Bailey, D. B. (2004). Mental Retardation and 

Developmental Disabilities Research Reviews, 10,

3–10.

First experiences with early intervention: A national 

perspective. Bailey, D., Hebbeler, K., Scarborough, 

A., Spiker, D., & Mallik, S. (2004). Pediatrics, 113, 

887–896.

School readiness for ALL children: Ensuring 

that children with disabilities or other special 

needs are included in California’s school 

readiness efforts. Brault, L. M., Knapp, P., & 

Winton, P. J. (2004). Los Angeles: UCLA Center 

for Healthier Children, Families and Communities. 

Available at 

http://www.healthychild.ucla.edu/First5CAReadiness/

ChildrenDisabilitiesOtherNeeds.asp

Home visiting and family literacy programs. Bryant, 

D., & Wasik, B. H. (2004). In B. H. Wasik (Ed.), 

Handbook of family literacy (pp. 329–346). 

Mahwah, NJ: Lawrence Erlbaum Associates, Inc.

22 early developments | summer 2004

A framework for understanding the consultation 

process: Stage-by-stage. Buysse, V., & Wesley, P. 

W. (2004). Young Exceptional Children, 7(2), 2–9.

Resources for supporting young children with 

challenging behaviors and their families. Catlett, 

C., Winton, P., & Hemmeter, M. L. (2004, Winter). 

Young Exceptional Children, 7(2), 30.

Integrating services for family literacy. Harbin, 

G. L., Herrmann, S., Wasik, B. H., Dobbins, 

D., & Lam, W. K. (2004). In B. H. Wasik (Ed.), 

Handbook of family literacy (pp. 373–398). 

Mahwah, NJ: Lawrence Erlbaum Associates, Inc.

Developmental screening and detection of 

developmental delays in infants and toddlers 

with fragile X syndrome. Mirrett, P., Bailey, D. 

B., Roberts, Jane E., & Hatton, D. D. (2004). 

Developmental and Behavioral Pediatrics, 25,

21–27.
summer 2004 | early developments 23

recent 

publications

Selected New FPG Products

Many products developed at FPG are available for free online. You may also 

purchase products from the FPG Publications Office, phone 919.966.4221 or email 

FPGpublications@unc.edu. The FPG online catalog currently includes information on 

more than 300 publications. Visit the FPG website at www.fpg.unc.edu to learn more. 

2003 North Carolina needs and resources assessment. Bryant, D., Maxwell, K., & 

Taylor, K. (2003). 

www.fpg.unc.edu/~ncnr_assessment/

Child and program characteristics of the North Carolina More at Four prekindergarten program: Year 1 (January–June 2002). Peisner-Feinberg, E. S. (2003) 

www.fpg.unc.edu/~mafeval/pages/publications.cfm

Prekindergarten policy framework. National Prekindergarten Center. (2004). Chapel 

Hill: The University of North Carolina at Chapel Hill, FPG Child Development Institute.

www.fpg.unc.edu/~npc/framework/index.cfm

Child care and its impact on young children (2–5).

Peisner-Feinberg, E. S. (2004). In R. E. Tremblay, 

R. G. Barrs, & R. DeV. Peters (Eds.), Encyclopedia 

on Early Childhood Development [online]. 

Montreal, Quebec, Canada: Centre of Excellence 

for Early Childhood Development. Available 

at http://www.excellence-jeunesenfants.ca/

documents/Peisner-FeinbergANGxp.pdf

Effects of age and developmental status of partners 

on play of preschoolers with disabilities. Skinner, 

M. L., Buysse, V., & Bailey, D. B. (2004). Journal 

of Early Intervention, 26(3), 34–43.

Earliest literacy: From birth to age 3. Sparling, J. 

(2004). In B. H. Wasik (Ed.), Handbook of family 

literacy (pp. 45–56). Mahwah, NJ: Lawrence 

Erlbaum Associates, Inc.

An eco-cultural perspective on early literacy: 

Avoiding the perils of school for non-mainstream 

children. Vernon-Feagans, L., Head-Reeves, D., & 

Kainz, K. (2004). In B. H. Wasik (Ed.), Handbook 

of family literacy (pp. 427–448). Mahwah, NJ: 

Lawrence Erlbaum Associates, Inc.

Handbook of family literacy. Wasik, B. H. 

(Ed.). (2004). Mahwah, NJ: Lawrence Erlbaum 

Associates, Inc.

summer 2004 | early developments 23
24 early developments | summer 2004 

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early developments

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