bluuebunny/crossref_metadata_2025 huggingface dataset:
Massive SCA7 expansion detected in a 7‐month‐old male with hypotonia, cardiomegaly, and renal compromise
Authors: Whitney Andrea , Lim Ming , Kanabar Dipak , Lin Jean‐Pierre
Published: June 2009

Infantile spinocerebellar ataxia type 7 (SCA7) is phenotypically different from the child‐onset and adult‐onset cases, presenting as a multisystem disorder associated with pathologically large CAG trinucleotide repeat sequences. We describe a case study of a male who presented at 5 months of age with marked motor delay, failure to thrive, and a patent ductus arteriosus. He later developed renal failure of uncertain aetiology. The infant became progressively hypotonic, and cardiac and renal function deteriorated further; he died at the age of 11 months of multisystem failure. Family history revealed a diagnosis of SCA7 in the infant's father, paternal grandfather, and aunt. DNA analysis confirmed an expanded trinucleotide repeat in the SCA7 locus of about 240 repeats, suggesting a diagnosis of infantile SCA7. Striking anticipation is seen in SCA7, particularly with paternal transmission. The underlying pathophysiological processes seem to involve alteration in transcriptional regulation and a selective neuronal vulnerability to the widely distributed abnormal protein product. This case report reviews the current literature relating to infantile SCA7 and raises awareness of this rare but important phenotype.
The role of magnetic resonance imaging in elucidating the pathogenesis of cerebral palsy: a systematic review
Authors: Krägeloh‐Mann Ingeborg , Horber Veronka
Published: June 2009

The aim of this study was to show the role of magnetic resonance imaging (MRI) in elucidating the aetiology, or at least pathogenesis, of cerebral palsy (CP). A systematic review of studies usingMRIin children withCPwas performed according to pathogenetic patterns characterizing different timing periods of occurence of the lesions, and with respect to gestational age (term vs preterm) andCPsubtypes. Out of the studies published since 1990 in English, six met all the inclusion criteria; they involved children with spastic and dyskineticCP. AbnormalMRIwas reported in 334 out of 388 (86%) patients and gave clues to pathogenesis in 83%. Fourteen studies met only part of the inclusion criteria and abnormalMRIswere reported even more frequently in these (91%; 930/1022). Periventricular white matter lesions were most frequent (56%) followed by cortical and deep grey matter lesions (18%); brain maldevelopments were rather rare, described in 9%. Brain maldevelopments and grey matter lesions were more often seen in term than in preterm‐born children withCP(brain maldevelopments: 16% vs 2.5%; grey matter lesions: 33% vs 3.5%); periventricular white matter lesions occurred significantly more often in preterm than in term‐born children (90% vs 20%).CPis mainly characterized by brain lesions which can be identified byMRIin around 75% of preterm infants; brain maldevelopments occur in around 10%.
Growth patterns in a population of children and adolescents with cerebral palsy
Authors: Day Steven M , Strauss David J , Vachon Pierre J , Rosenbloom Lewis , Shavelle Robert M , Wu Yvonne W
Published: June 2009

This study examined growth of children and adolescents with cerebral palsy (CP) who received services from the California Department of Developmental Services from 1987 to 2002. In all, 141 961 measurements of height and weight were taken from 24920 patients with CP (14103 males, 10817 females). Centiles of weight and height were determined by age, sex, and five levels of functional ability ranging from fully ambulatory to unable to walk, crawl, or feed self, and fed via gastrostomy tube. Resulting charts of height and weight centiles were compared with Centers for Disease Control and Prevention weight and height charts for the general population of the US. Centiles of height and weight of patients with CP were close to those of the general population for the highest functioning groups with CP, but lagged substantially for other groups. Presence of a feeding tube was associated with greater height and weight in the lowest functioning groups, with centiles for weight being 2 to 5kg higher for those with gastrostomy tubes. The charts may assist in early identification of nutritional or metabolic difficulties beyond what might be expected for patients with similar functional disabilities.
Effects of massage on the mechanical behaviour of muscles in adolescents with spastic diplegia: a pilot study
Authors: Macgregor Russell , Campbell Ross , Gladden Margaret H , Tennant Nicola , Young David
Published: June 2009

Calf muscles of five adolescents aged 12 to 15 years (three males, two females) with spastic diplegia were massaged for 14 minutes twice a week for 5 weeks in a controlled sequence, stretching the muscles transversely rather than longitudinally, without eliciting pain. Slow, passive test stretches were applied before and after massage. After massage, the range of movement was not consistently increased but, on average, greater force was needed to stretch the muscle than before massage. However, after massage the resting ankle angle sometimes changed so that the calf muscles were either shorter or longer. We suggest that these phenomena could be explained if massage resets sarcomere lengths which corrects for thixotropic effects (i.e. previous use modifies a muscle's mechanical behaviour). A redistribution on sarcomere lengths within muscles could also have reset proprioceptive feedback. The incidence of abnormal stretch reflexes during test stretches fell from 40 to 22%, comparing the first five sessions with the last five sessions. The amplitude of voluntary alternating ankle rotation increased in three participants. Motor skills were assessed with the Gross Motor Function Measure‐66 (GMFM‐66) 1 week before the test period, during the 5th week, and 12 weeks later. Our participants in Gross Motor Function Classification System (GMFCS) Levels I and II made sustained improvements in GMFM‐66 scores (6.4% at 5 weeks falling to 5.5% at 17 weeks), one increase being significant. One participant in GMFCS Level III improved significantly only after massage of all leg muscles for 30 weeks.
Perceived health in young adults with spina bifida
Authors: Verhoef M , Post M W M , Barf H A , Van Asbeck FWA , Gooskens R H J M , Prevo A J H
Published: June 2009

The aims of this study were to compare the perceived health of young adults with spina bifida with a population without disability, and to determine the effect of the disease characteristics and resulting impairments on perceived health. This cross‐sectional study is part of the Adolescents with Spina Bifida in the Netherlands study. Data were collected by physical examination and a questionnaire. In total, 179 patients (age range 16‐25y) participated in the study and perceived health data were completed for 164 participants (92 females, 72 males; mean age 20y 7mo [SD 2y 9mo]). Twenty‐six participants had spina bifida occulta and 138 had spina bifida aperta, of whom 115 also had hydrocephalus. Perceived health was measured with the Medical Outcome Study 36‐item Short‐form Health Survey (SF‐36), a generic health status measure. SF‐36 scores of young adults with spina bifida were below those of an age‐matched population group for six of the eight domains. This difference was largest for the physical functioning domain. Although these differences were statistically significant they were small. Findings for the emotional health domains (vitality, mental health, role problems due to emotional problems) did not differ at all from the population group.
Long‐term follow‐up of children with obstetric brachial plexus palsy II: neurophysiological aspects
Authors: Strömbeck Christina , Remahl Sten , Krumlinde‐Sundholm Lena , Sejersen Thomas
Published: June 2009

The aim of this study was to examine long‐term neurophysiological outcomes and sensory function in patients with obstetric brachial plexus palsy (OBPP). The same 70 children/adolescents examined in part I: functional aspects (35 males, 35 females; age range 7‐20y, mean 13y 6mo [SD 4y 3mo], median 13y) were examined with neurophysiological methods at 3 to 7 months and at 7 to 20 years of age. Thirteen of the 70 participants underwent nerve reconstruction before 1 year of age. Electromyography (EMG) was performed on deltoid and first interossei muscles; Quantitative Sensory Test was used for C6 and C8 dermatomes. Tests for functional sensibility and 2‐point discrimination for C6 and C8 were performed. This study shows that considerable EMG changes can be observed in OBBP, even in those fully recovered. EMG changes in the deltoid were shown to deteriorate over time, and sensibility is considerably less affected than motor function.
Motor development in school‐aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome)
Authors: Van Aken Katrijn , De Smedt Bert , Van Roie Annelies , Gewillig Marc , Devriendt Koen , Fryns Jean‐Pierre , Simons Johan , Swillen Ann
Published: June 2009

The aim of this study was to compare the motor development of primary school children (age 5–14y) with a 22q11 deletion (del22q11) group and a control group. The effects of a congenital heart defect (CHD) and IQ on motor development were additionally studied within the del22q11 group. Motor development of 37 children with a del22q11 (20 males, 17 females; mean age 9y 4mo, range 5y 9mo–13y 3mo) and 34 controls (23 males, 11 females; mean age 9y 1mo, range 4y 8mo–13y 6mo) was assessed with the Bruininks–Oseretsky Test of Motor Proficiency. The del22q11 group showed a significant deficit in motor functioning compared with the control group (p < 0.01). Within the del22q11 group there was a significant effect of IQ on motor performance, but no effect of CHD was found. To conclude, primary school children with a del22q11 syndrome showed a significant deficit in motor performance compared with a control group. A significant effect of IQ on motor performance in del22q11 was found.
Dyskinetic cerebral palsy: a population‐based study of children born between 1991 and 1998
Authors: Himmelmann K , Hagberg G , Wiklund L M , Eek M N , Uvebrant P
Published: June 2009

The aim of this study was to describe the epidemiology, aetiology, and clinical findings in dyskinetic cerebral palsy (CP)in a population‐based follow‐up study of children born between 1991 and 1998. Age range at ascertainment was 4 to 8 years and prevalence was 0.27 per 1000 live‐births. Forty‐eight children were examined (27 males, 21 females; mean age 9y, range 5‐13y). Thirty‐nine had dystonic CP and nine a choreo‐athetotic subtype. Primitive reflexes were present in 43 children and spasticity in 33. Gross Motor Function Classification System levels were: Level IV,n= 10 and Level V,n= 28. The rate of learning disability (n= 35) and epilepsy (n= 30) increased with the severity of the motor disability. Thirty‐eight children had anarthria. Peri‐ or neonatal adverse events had been present in 34 of 42 children born at ≥34 weeks’ gestation. Motor impairment was most severe in this group. Placental abruption or uterine rupture had occurred in 8 participants and 19 of the 42 near‐term/term children required assisted ventilation, compared with 1% and 12% respectively in other CP types. Neuroimaging in 39 children born at ≥34 weeks revealed isolated, late third trimester lesions in 24 and a combination of early and late third trimester lesions in seven. Dyskinetic CP is the dominant type of CP found in term‐born, appropriate‐for‐gestational‐age children with severe impairments who have frequently experienced adverse perinatal events.
Is cerebral palsy associated with birth defects other than cerebral defects?
Authors: Blair Eve , Al Asedy Falih , Badawi Nadia , Bower Carol
Published: June 2009

The objective of the study was to identify the origin (s) of the association between cerebral palsy (CP) and birth defects in the absence of cerebral birth defects. Data from the 1980 to 1994 Western Australian birth cohorts (355 659 neonatal survivors) were linked to the Cerebral Palsy Register (941 links) and the Birth Defects Registry (17070 links). Associations between CP (congenital or acquired) and birth defects (cerebral or exclusively non‐cerebral) were estimated. The origin of the association between non‐cerebral defects and acquired CP was investigated with an observational study, and the origin of the association between non‐cerebral defects and congenital CP was investigated with a blinded case‐control study of births with non‐cerebral defects with or without CP. With non‐cerebral defects, the odds ratio for CP was 4.8 (95% CI 3.1–7.4) if acquired and 4.7 (3.9–5.7) if congenital. For acquired CP, the association arose primarily as a result of cardiac defects. For congenital CP, the association arose partly from ascertainment bias and partly from defects known to be associated with cerebral defects (but not identified in these data). However, a significant portion remained unexplained. The presence of non‐cerebral defects should heighten clinical alertness to the possibility of CP and of cerebral birth defects.
The Assisting Hand Assessment: current evidence of validity, reliability, and responsiveness to change
Authors: Krumlinde‐Sundholm Lena , Holmefur Marie , Kottorp Anders , Eliasson Ann‐Christin
Published: June 2009

The Assisting Hand Assessment (AHA) provides a new perspective of hand function evaluation relevant for children with unilateral upper limb disabilities. It measures how effectively the involved hand is actually used for bimanual activity, which, for these children, might be the most important aspect of their hand function. The aim of this paper is to report the conceptual framework and the evidence for validity, reliability, and responsiveness to change for the measures. Previously, the AHA has been evaluated for children aged 18 months to 5 years and excellent inter‐ and intrarater reliability was demonstrated. This paper reports further evidence of construct validity and reliability for the AHA measures involving an extended age range of children with hemiplegic cerebral palsy or obstetric brachial plexus palsy from 18 months to 12 years of age (mean age 4y 11mo [SD 2y 9mo] range 18mo–12y 8mo). A Rasch measurement model was used to analyze 409 assessments from 303 children (170 males, 133 females). The analysis generated a scale demonstrating large capacity to reliably separate and spread personal ability measures, indicating sensitivity to change and a hierarchy of the items ranging them from easy to hard. Aspects of item fit, relationship between age and ability measures, and development of assisting hand function are discussed.
Stability of the Gross Motor Function Classification System in adults with cerebral palsy
Authors: McCormick Anna , Brien Marie , Plourde Joelle , Wood Ellen , Rosenbaum Peter , McLean Jennifer
Published: June 2009

To determine the stability of Gross Motor Function Classification System (GMFCS) levels between approximately 12 years of age and adulthood (i.e. > 16y) using a matched chart review. Adult health records from the Ottawa Rehabilitation Centre were matched with childhood health records from the Ottawa Children's Treatment Centre (OCTC). Health records were available for 103 adults (52 males, 51 females) with cerebral palsy (CP; age range 17–38y; mean age 22y [SD 4y]) who had also been seen at the OCTC at a mean age of 12 years (SD 1y). GMFCS levels as adults were: Level I, n= 10; Level II, n= 24; Level III, n= 21; Level IV, n= 30; and Level V, n= 18. Adult participants were classified using the GMFCS at the time they were last seen by a rehabilitation specialist, sometime between June 2002 and June 2005. Corresponding paediatric charts were reviewed and classified by two independent raters blinded to the adult GMFCS levels. GMFCS levels around age 12 were: Level I, n= 20; Level II, n= 13; Level III, n= 22; Level IV, n= 35; and Level V, n= 13. Interrater reliability for childhood health records was determined with a quadratic weighted kappa and was 0.978. Stability of GMFCS levels was also assessed using the quadratic weighted kappa and was 0.895. The positive predictive value of the GMFCS at 12 years of age to predict walking without mobility aids by adulthood is 0.88. If the child is a wheelchair user at around age 12 years, the positive predictive value is 0.96 that the individual will still be a wheelchair user as an adult. This study supports previous findings that interrater reliability when using the GMFCS is very high. It also shows that the GMFCS level observed around the age of 12 years is highly predictive of adult motor function. This provides important information for individuals with CP, their families, and care providers as they plan for future care needs and rehabilitation intervention.
Autism spectrum disorder and underlying brain mechanism in the oculoauriculovertebral spectrum
Authors: Johansson Maria , Billstedt Eva , Danielsson Susanna , Strömland Kerstin , Miller Marilyn , Granström Gösta , Flodmark Olof , Råstam Maria , Gillberg Christopher
Published: June 2009

As part of a multidisciplinary study, the rate of autism spectrum disorder (ASD), learning disability (LD), and brain abnormalities was examined in 20 participants (12 males, 8 females; age range 8mo‐17y, mean age 8y 1mo) diagnosed as falling within the oculoauriculovertebral spectrum (OAV). A neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Two individuals met diagnostic criteria for autism, one for autistic‐like condition, and five for autistic traits. Four patients had mild LD, three severe LD, two profound LD, and two borderline intellectual functioning. Neuroimaging indicated cerebral abnormalities in more than half of the patients. Abnormalities of white/grey matter were found in more than half of examined individuals; enlargement of ventricles in more than a third. Results indicate that at least a subgroup of ASD may be associated with errors in early embryonic brain development. Awareness of the coexistence of OAV/ASD is important in habilitation care of individuals with OAV.
Smooth ocular pursuit in Chiari type II malformation
Authors: Salman Michael S , Sharpe James A , Lillakas Linda , Steinbach Martin J , Dennis Maureen
Published: June 2009

Chiari type II malformation (CII) is a congenital anomaly of the cerebellum and brainstem, both important structures for processing smooth ocular pursuit. CII is associated with myelomeningocele and hydrocephalus. We investigated the effects of CII on smooth pursuit (SP) eye movements, and determined the effects of spinal lesion level, number of shunt revisions, nystagmus, and brain dysmorphology on SP. SP was recorded using an infrared eye tracker in 21 participants with CII (11 males, 10 females; age range 8‐19y, mean 14y 3mo [SD 3y 2mo]). Thirty‐eight healthy children (21 males, 17 females) constituted the comparison group. Participants followed a visual target moving sinusoidally at ± 10° amplitude, horizontally and vertically at 0.25 or 0.5Hz. SP gains, the ratio of eye to target velocities, were abnormal in the CII group with nystagmus (n= 8). The number of shunt revisions (range 0‐10), brain dysmorphology, or spinal lesion level (n= 15 for lower and n= 6 for upper spinal lesion level) did not correlate with SP gains. SP is impaired in children with CII and nystagmus. Abnormal pursuit might be related to the CII dysgenesis or to effects of hydrocephalus. The lack of effect of shunt revisions and abnormal tracking in participants with nystagmus provide evidence that it is related primarily to the cerebellar and brainstem malformation.
Pyridoxine‐dependent seizures: a family phenotype that leads to severe cognitive deficits, regardless of treatment regime
Authors: Rankin Peter M , Harrison Sue , Chong W K , Boyd Stewart , Aylett Sarah E
Published: June 2009

The neuropsychological and clinical histories of three male siblings affected by pyridoxine‐dependent seizures with known homozygous antiquitin mutations are presented. Neuropsychological evaluation is reported from when the siblings were 11, 9, and 7 years of age. Two of the siblings had received early pyridoxine treatment (antenatal, 2–4wks into pregnancy) and one had received late treatment (2mo postnatal). However, there was no differential effect on cognitive outcome, with all three siblings having moderate to severe learning disability. Unlike previously reported cases that received early postnatal treatment, none of the siblings had relatively preserved non‐verbal cognitive skills. Equally, their intellectual performance over time did not increase above the 1st centile despite high maintenance doses of vitamin B6 (range 16–26mg/kg/d), and mild sensory neuropathy was reported on nerve conduction studies. The findings in these siblings challenge assumptions that early and high dose pyridoxine treatment can benefit cognition in this population and suggest routine electromyography monitoring may be beneficial.
Handwriting development, competency, and intervention
Authors: Feder Katya P , Majnemer Annette
Published: June 2009

Failure to attain handwriting competency during the school‐age years often has far‐reaching negative effects on both academic success and self‐esteem. This complex occupational task has many underlying component skills that may interfere with handwriting performance. Fine motor control, bilateral and visual–motor integration, motor planning, in‐hand manipulation, proprioception, visual perception, sustained attention, and sensory awareness of the fingers are some of the component skills identified. Poor handwriting may be related to intrinsic factors, which refer to the child's actual handwriting capabilities, or extrinsic factors which are related to environmental or biomechanical components, or both. It is important that handwriting performance be evaluated using a valid, reliable, standardized tool combined with informal classroom observation and teacher consultation. Studies of handwriting remediation suggest that intervention is effective. There is evidence to indicate that handwriting difficulties do not resolve without intervention and affect between 10 and 30% of school‐aged children. Despite the widespread use of computers, legible handwriting remains an important life skill that deserves greater attention from educators and health practitioners.
Relationships among functional outcome measures used for assessing children with ambulatory CP
Authors: Sullivan Elroy , Barnes Douglas , Linton Judith L , Calmes Janine , Damiano Diane , Oeffinger Donna , Abel Mark , Bagley Anita , Gorton George , Nicholson Diane , Rogers Sarah , Tylkowski Chester
Published: June 2009

In ambulatory children with cerebral palsy (CP), practitioners often examine outcomes using measures related to functions necessary for daily life. The Gross Motor Function Measure (GMFM) Dimensions D and E, Pediatric Outcomes Data Collection Instrument (PODCI) Parent and Child versions, Gillette Functional Assessment Questionnaire (FAQ) Walking subscale, Functional Independence Measure for Children (WeeFIM), Pediatric Quality of Life Inventory (PedsQL), temporal‐spatial gait parameters, and O2 cost during ambulation were selected for study. Cross‐sectional data were collected in a prospective multicenter study of 562 participants with CP (339 males, 223 females), between 4 and 18 years of age (mean age 11y 1mo). There were 240 classified as Gross Motor Function Classification System Level I, 196 as Level II, and 126 as Level III. The tools that had the best interrelationships and underlying constructs predominately measured changes in physical function. These included portions of the FAQ, Parent PODCI, WeeFIM, and GMFM. GMFM Dimensions D and E exhibited a very strong relationship. Temporal‐spatial gait parameters and O2 cost measures represented a different construct of physical function. The Child PODCI reports and both the Parent and Child PedsQL reports did not relate well to other measures, suggesting a pattern of answers not related to question content. The Parent PODCI, the FAQ Walking subscale, and GMFM Dimension E were found to be an appropriate minimum set of instruments for assessment of functional outcomes in patients with ambulatory CP.
Participation of young severely disabled children is influenced by their intrinsic impairments and environment
Authors: Forsyth Rob , Colver Allan , Alvanides Seraphim , Woolley Mark , Lowe Marion
Published: June 2009

A prospective study of the families of young severely disabled children applying to a non‐governmental organization for financial support examined the respective contributions of a child's intrinsic impairment and the family's environment to their participation. The study population comprised the families of 600 children of median age 2 years 8 months (range 1y‐12y 1mo), of whom 46% had autistic or severe behaviour difficulties, 12% other learning disabilities, 6.8% cerebral palsy, and 10% non‐neurological causes of severe disability. Intrinsic impairment was measured with the Health Utilities Index (HUI); environmental factors using a novel instrument, the European Child Environment Questionnaire (ECEQ); and participation of child and family using the Lifestyle Assessment Questionnaire. Principal components analysis was used to examine interrelationships. A five‐component model explains 50% of the variance in the ECEQ. The first component, ECEQ1, reflects the support a family receives from professional services and family. HUI and ECEQ1 were independently associated with participation (p<0.0001) with comparable effect sizes. We conclude that the participation of young severely disabled children is affected to similar extents by intrinsic impairment and environmental factors such as services, support, and attitudes.
Autism spectrum disorders: sex differences in autistic behaviour domains and coexisting psychopathology
Authors: Holtmann Martin , Bölte Sven , Poustka Fritz
Published: June 2009

The purpose of the present study was to examine possible differences between high‐functioning males and females with autism spectrum disorder (ASD) regarding the core symptoms of autism and coexisting psychopathology. A total of 23 females and 23 males matched for age, IQ, and ASD diagnoses were recruited(mean age 11y 9mo [SD 4y 5mo], range 5y‐20y 2mo) with an IQ above the range of learning disability (mean IQ 88.8 [SD 18.5], range 70–128). They were compared using the Autism Diagnostic Interview‐Revised, the Autism Diagnostic Observation Schedule, and the Child Behavior Checklist/4–18. We did not identify striking differences between males and females for the triad of autism core dysfunctions (deficits in reciprocal social interaction, communication, and repetitive, stereotyped behaviours) as assessed by expert ratings. However, with regard to several domains of coexisting psychopathology, parent reports revealed significantly more symptoms in females than males, particularly social problems (t=4.47, p<0.01, d=1.20), attention problems (t=3.39, p<0.01, d=0.80), and thought problems (t=3.24, p<0.01, d=0.84). These results are discussed with possible interpreting bias by parents who may expect more socially desired behaviour from daughters than from sons. The severity of social and attention problems in high‐functioning females with autism emphasizes the need for thorough assessments and interventions in these domains. Future research should compare the cognitive phenotype of autism between sexes.
Early initiation of L‐dopa therapy enables stable development of executive function in tetrahydrobiopterin (BH4) deficiency
Authors: Tanaka Yoko , Kato Motoichiro , Muramatsu Taro , Saito Fumie , Sato Seiji , Matsuo Nobutake , Shintaku Haruo , Okano Yoshiyuki , Kondo Hiroshi , Nukazawa Tatsushi
Published: June 2009

Executive function (EF) has been presumed to be mediated by the dopaminergic system in the prefrontal cortex. However, little is known about the early development of this function and the roles dopamine plays in it. Tetrahydrobiopterin (BH4) deficiencies are genetic disorders affecting catecholamine and serotonin biosynthesis which, if untreated, result in motor and cognitive symptoms including impairment of EF. A comprehensive neuropsychological test battery was administered to six participants with BH4 deficiency (four males, two females, mean Full‐scale intelligence quotient [FIQ] 63.8 [SD 14.7]); all were on replacement therapy with L‐dopa and BH4, but time of initiation of treatment varied. Age range (median) was 28 days to 41 years (2y 6mo) at initiation of treatment and 10 to 47 years (19y) at follow‐up. On non‐EF tests, performance agreed with those of IQ‐matched controls (four males, two females; mean age 16y 6mo [SD 6mo]; mean FIQ 62.3 [SD 13.4]). On EF tests those who initiated treatment after 2 years 6 months of age performed poorly. In patients with BH4 deficiency, replacement therapy should be started in the first weeks or months of life. Patients diagnosed before the age of 2 years 6 months obtain normal EF, which suggests dopamine may play a critical role in ensuring stable development of EF in early life.
Functional recovery after transection of the sciatic nerve at an early age: a pilot study in rats
Authors: Meek Marcel F , IJkema‐Paassen Jos , Gramsbergen Albert
Published: June 2009

It is often clinically noted that peripheral nerve transections in infants and very young children seem to show better functional recovery after nerve repair compared with adult patients. There can be several reasons for this (e.g. outgrowing axons might have maintained their potential to locate their genuine target muscle, the distance from the lesion site to the target organ is shorter, or there is enhanced compensational capacity of central brain areas at early stages of development). We decided to study the effects on walking performance of sciatic nerve transection and repair in nine rats at the youngest age at which appreciable numbers of motoneurons survive transaction (10th day of life). The follow‐up period was 52 weeks. Walking movements were recorded on video and performance was qualitatively assessed. The stance factor and the sciatic function index were calculated and abnormalities such as automutilation of the toes or flexion contractures were noted. Postmortem inspection aimed to examine the continuity of the regenerated nerve and the presence of neuromas. Nine days after the transection and nerve repair, walking performance in all rats was close to the level in rats that had not undergone the procedure. Exorotation of the hind leg on the operated side was observed in only two rats. However, 20 days after lesioning the walking performance started to deteriorate, and walking patterns in all but one rat showed severe disability until the end of the observations. Only one out of the nine animals walked relatively undisturbed, with a sciatic function index approaching normal values but with an abnormal stance factor. We conclude that a sciatic nerve transection in rats aged 10 days leads to long‐term impairments in walking patterns.
Executive functioning in childhood epilepsy: parent‐report and cognitive assessment
Authors: Parrish Joy , Geary Elizabeth , Jones Jana , Seth Raj , Hermann Bruce , Seidenberg Michael
Published: June 2009

There is considerable interest in the assessment of executive function (EF) in pediatric clinical populations but only a few well‐standardized measures exist. We examined EF in 53 children aged 8 to 18 years with recent onset epilepsy (31 males, 22 females) and 50 control children (23 males, 27 females) using the Behavior Rating Inventory of Executive Function (BRIEF) and the Delis‐Kaplan Executive Function System (D‐KEFS). Thirty children had localization‐related epilepsy and 23 had idiopathic generalized epilepsy; average duration of 10 months (SD 4y 1mo) and onset age of 11 years 6 months (SD 3y 6mo). The study sample was characterized by good seizure control, with 40 participants taking one antiepileptic drug (AED), one taking two AEDs, and 12 not treated pharmacologically. Children with epilepsy showed greater executive difficulties on both measures than children in the control group. The BRIEF and D‐KEFS were significantly correlated, and an ‘at‐risk’ group identified from the BRIEF was more significantly impaired on the D‐KEFS than a ‘low risk’ group. The BRIEF was also a better predictor of performance on the D‐KEFS than the Child Behavior Checklist. These findings indicate that children with recent onset epilepsy show significant difficulties in E F, and demonstrate the utility of parent ratings (BRIEF) in the assessment of EF.
Clinical and radiological features of childhood cerebral infarction following varicella zoster virus infection
Authors: Miravet Elena , Danchaivijitr Nasuda , Basu Helen , Saunders Dawn E , Ganesan Vijeya
Published: June 2009

The aim of the study was to describe the clinical and radiological features of childhood post‐varicella cerebral infarction (PVCI). A retrospective review was undertaken of children with arterial ischaemic stroke (AIS) who had experienced varicella zoster virus (VZV) infection within the preceding year. Twenty‐four children (15 males, nine females; age range at time of VZV infection 2mo‐6y) were identified, with a median of 4 months between VZV and AIS (range 1wk‐12mo). All had infarction in the middle cerebral artery (MCA) territory and abnormalities of the M1 segment; arteriopathy affected other arteries in 10 children. After a median of 27 months, six patients had recurrent transient ischaemic attacks (TIA), with new infarcts in two of 22 children on re‐imaging. Arterial disease improved in 11 children, was stable in four, and progressed in seven (of whom four had recurrent TIA and two had re‐infarction). PVCI affects young, previously healthy children within a few months of VZV infection and is characterized by MCA territory infarction and proximal MCA disease. One quarter of patients have recurrence, usually, but not inevitably, associated with progressive arteriopathy. Treatable co‐existing AIS risk factors should always be excluded. A more comprehensive diagnostic evaluation should be considered in children with AIS who do not fit the clinical and radiological profile outlined, even where there is a history of recent VZV infection.
Being in pain: a phenomenological study of young people with cerebral palsy
Authors: Castle Kirstyn , Imms Christine , Howie Linsey
Published: June 2009

This study explored the experience and impact of chronic pain on the lives of adolescents and young adults with cerebral palsy (CP). Six participants with CP (four males, two females; age range 14‐24y) who were known to experience chronic pain participated in individual in‐depth interviews. Five participants had quadriplegia and used wheelchairs; one had left hemiplegia and walked independently. Pain was located in the hips, back, bladder, and upper limbs. Interviews were analyzed using a six‐step phenomenological process. Participants in the study were found to live with constant pain that was difficult to relieve and pervaded their lives. They often felt isolated and became frustrated due to their loss of independence and inability to participate in activities. Participants indicated the importance of having their experience of pain acknowledged, supporting the need for greater attention to ongoing holistic management. Further research into effective interventions may enable increased activity participation and prevent later chronicity.
Psychiatric comorbidity in children with new onset epilepsy
Authors: Jones Jana E , Watson Ryann , Sheth Raj , Caplan Rochelle , Koehn Monica , Seidenberg Michael , Hermann Bruce
Published: June 2009

The aim of this study was to characterize the distribution, timing, and risk factors for psychiatric comorbidity in children with recent onset epilepsy. Children aged 8 to 18 years with recent onset epilepsy (<1 year in duration) of idiopathic etiology (n=53) and a healthy comparison group (n=50) underwent a structured psychiatric diagnostic interview to characterize the spectrum of lifetime‐to‐date history of comorbid psychiatric disorder. There was no significant difference between the children with recent onset epilepsy and healthy comparison children in sex (31 males, 22 females vs 23 males, 27 females) or mean age 12.7y [SD 3.3] vs 12.7y [SD 3.2]). Children with recent onset epilepsy exhibited an elevated rate of lifetime‐to‐date Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM‐IV) Axis I disorders compared with the comparison group. They showed significantly higher rates of depressive disorders (22.6 vs. 4%, p=0.01), anxiety disorders (35.8 vs 22%, p<0.05), and attention‐deficit‐hyperactivity disorder (26.4 vs 10%, p=0.01) with elevated but less prevalent rates of oppositional defiant and tic disorders. A subset of children with epilepsy (45%) exhibited DSM‐IV Axis I disorders before the first recognized seizure, suggesting the potential influence of antecedent neurobiological factors that remain to be identified. The increased prevalence of psychiatric comorbidity antedating epilepsy onset may be consistent with the presence of underlying neurobiological influences independent of seizures, epilepsy syndrome, and medication treatment.
Leber's congenital amaurosis: is there an autistic component?
Authors: Fazzi E , Rossi M , Signorini S , Rossi G , Bianchi P E , Lanzi G
Published: June 2009

There is much evidence in the literature suggesting that children with congenital blindness can also present autistic like features. The aetiopathogenetic and clinical significance of this association is still unclear. Given the central role played by vision in development, we set out to establish the significance of autistic‐like behaviours in children with early‐onset severe visual impairment. Our sample comprised 24 children (13 males, 11 females; mean age 5y 2mo; range 2‐11y) affected by Leber's congenital amaurosis (LCA). The results of our administration of a modified Childhood Austism Rating Scale ‐ excluding item VII (Visual Responsiveness) ‐ showed that only four of the children gave an overall score indicating the presence of autism (moreover, of mild/moderate degree). Hardly any of the children in our LCA sample presented major dysfunctions in their relationships with other people or in their social and emotional responsiveness, thus allowing us to exclude a genuine comorbidity with a picture of autism. Indeed, the risk facing the visually impaired child seems to concern their early interactive experiences, which may be affected by their inability to connect with others, and may be prevented through the development of specific strategies of intervention.
Effects of a static bicycling programme on the functional ability of young people with cerebral palsy who are non‐ambulant
Authors: Williams Heather , Pountney Teresa
Published: June 2009

This study investigated the effects of exercise on the motor function of 11 young people (10 females, one male; age range 11‐15y; mean age 12y 7mo [SD 1y 4mo]) with cerebral palsy (CP) who were non‐ambulant (Gross Motor Function Classification System Levels IV or V), using an adapted static bicycle. Three participants had dyskinetic quadriplegia, seven had spastic quadriplegia, had spastic quadriplegia, and one had spastic diplegia. The study used an ABA design with participants acting as their own controls with 6‐week baseline, 6‐week exercise (three sessions a week), and 6‐week follow‐up periods. Outcomes were assessed with the Gross Motor Function Measure (GMFM)‐66 and GMFM‐88. A ‘graded exercise test’determined pedalling resistance ‘overload’was ensured by increasing the duration and speed of pedalling. Results showed significant improvements in GMFM‐66 (p=0.010) and in GMFM‐88 dimensions D (Standing; P=0.012) and E (Walking, Running, and Jumping; p=0.011) over the interventio period, but not over the baseline or follow‐up periods. Significant improvements were found in ‘cycling’ability for duration of pedalling (p<0.001), speed (p=0.01), and resistance (p=0.001). This study demonstrates that a relatively short, clinically feasible training programme on a static bicycle can lead to valuable improvements in functional ability in young people with CP. The static bicycle provided a safe, effective means of exercise to a population with very limited opportunities for activity.
Syringomyelia and chronic respiratory failure in a term infant delivered by Caesarean section
Authors: Sant'Anna G M , Azevedo C T , Simas A , Castro B P , Bhering C A
Published: June 2009

The case of a term, male neonate (birthweight 3785g) with cephalic presentation, Caesarean‐section (C‐section) delivery, and failure to thrive is reported. The infant presented with generalized hypotonia and respiratory failure immediately following birth. An initial diagnosis of hypoxic‐ischemic encephalopathy was made. However, ventilator dependency and slow recovery of generalized tonus over the following weeks could not be explained. Late cervical magnetic resonance imaging showed extensive syringomyelia from C2 to C7. To the authors’ knowledge, this is the first report of syringomyelia after a C‐section delivery following cephalic presentation without any associated abnormalities. Follow‐up at 2 years of age revealed no improvement on neurological examination: poor head control, difficulty swallowing, flaccid paralysis of upper limbs, and spasticity of lower limbs with exacerbated deep reflexes and spontaneous clonus. Difficulties in establishing the diagnosis and managing the case are discussed.
Change in ambulatory ability of adolescents and young adults with cerebral palsy
Authors: Day Steven M , Wu Yvonne W , Strauss David J , Shavelle Robert M , Reynolds Robert J
Published: June 2009

This study aimed to determine the probability that a child with cerebral palsy (CP) will lose or gain ambulatory ability through adolescence and young adulthood. We analyzed retrospectively data from 1987 to 2002 on Californians with CP initially aged 10 years (SD 0.9y; n=7550 [4304 males, 3246 females]) and 25 years (SD 0.8y; n=5721 [3261 males, 2460 females]) who had varying levels of ambulatory ability (initial Gross Motor Function Classification System Levels I‐IV). We used the Aalen‐Johansen estimator to estimate probabilities of transition to other levels of ambulatory ability in the future. Those who walked and climbed stairs without difficulty at age 10 had only a 23% chance of decline (to requiring a handrail to manage stairs, or worse) 15 years later. Those who ambulated with some difficulty but did not use a wheelchair had a significant chance (33%) of improvement (to being able to walk unsteadily alone at least 3m or better) and only a small chance (11%) of becoming non‐ambulatory. Those who used a wheelchair were more likely to lose ambulatory ability (34%) or die (6%). Those who walked and climbed stairs well at age 25 were likely to maintain that ability 15 years later (76%), while those needing support to climb stairs were more likely to lose ability. Improvement in ambulation after age 25 was unlikely. Children and young adults with CP are likely to maintain their ambulatory ability during their next 15 years. Some who ambulate with difficulty at age 10 may improve through adolescence, but those who use a wheelchair are more likely to decline. By age 25 improvement in ambulation is unlikely and decline more likely. Most, however, will not change over the next 15 years.
Intrathecal baclofen in children with spastic cerebral palsy: a double‐blind, randomized, placebo‐controlled, dose‐finding study
Authors: Hoving Marjanke A , Van Raak Elisabeth P M , Spincemaille Geert H J J , Palmans Liesbeth J , Sleypen Frans A M , Vles Johan S H ,   on behalf of the Dutch Study Group on Child Spasticity
Published: June 2009

Intrathecal baclofen (ITB) therapy can be very effective in the treatment of intractable spasticity, but its effectiveness and safety have not yet been thoroughly studied in children with cerebral palsy (CP). The aims of this double‐blind, randomized, placebo‐controlled, dose‐finding study were to select children eligible for continuous ITB infusion, to assess the effective ITB bolus dose, and to evaluate the effects, side effects, and complications. Outcome measures included the original Ashworth scale and the Visual Analogue Scale for individually formulated problems. We studied nine females and eight males, aged between 7 and 16 years (mean age 13y 2mo [SD 2y 9mo]). Twelve children had spastic CP and five had spastic‐dyskinetic CP. One child was classified on the Gross Motor Function Classification System at Level III, two at Level I V, and 14 at Level V. The test treatment worked successfully for all 17 children with an effective ITB bolus dose of 12.5μg in one, 20μg in another, 25μg in 10, and 50μg in five children. ITB significantly reduced muscle tone, diminished pain, and facilitated ease of care. The placebo did not have these effects. Nine side effects of ITB were registered, including slight lethargy in seven children. Fourteen children had symptoms of lowered cerebrospinal fluid pressure. We conclude that ITB bolus administration is effective and safe for carefully selected children with intractable spastic CP.
Measuring participation in children with disabilities using the Assessment of Life Habits
Authors: Noreau Luc , Lepage Céline , Boissiere Lucie , Picard Roger , Fougeyrollas Patrick , Mathieu Jean , Desmarais Gilbert , Nadeau Line
Published: June 2009

The objectives of this study were: (1) to examine the psychometric properties of the Assessment of Life Habits (LIFE‐H) for children; and (2) to draw a profile of the level of participation among children of 5 to 13 years of age with various impairments. The research team adapted the adult version of the LIFE‐H in order to render it more appropriate for the daily life experiences of children. Content validity was verified by an expert panel of 29 people, made up of parents, paediatric clinicians, and researchers. Reliability and construct validity of the LIFE‐H for children (interview‐administered form) was tested during an experiment that comprised three sessions of interviews with a group of 94 parents of children with disabilities (36 males, 58 females; mean age 8y 10mo [SD 2y 6 mo]; diagnostic groups: cerebral palsy, myelomeningocoele, sensory‐motor neuropathy, traumatic brain injury, and developmental delay). Overall, the LIFE‐H showed high intrarater reliability with intraclass correlation coefficient values of 0.78 or higher for 10 out of 11 categories. The correlations between the LIFE‐H and the tools used in pediatric rehabilitation varied, and categories with similar constructs generally led to higher correlations. The psychometric properties of the LIFE‐H are appropriate and its content allows a complete description of participation among children with disabilities.