bluuebunny/crossref_metadata_2025 huggingface dataset:
Self‐reported health‐related quality of life in children and adolescents with myelomeningocele
Authors: Müller‐Godeffroy E , Michael T , Poster M , Seidel U , Schwarke D , Thyen U
Published: June 2009

The aim of the study was to investigate self‐reported health‐related quality of life (HRQOL) in children and adolescents with myelomeningocele (MMC) and to examine the impact of clinical impairments and limitations in activities of daily living (ADL). Fifty patients (28 females, 22 males) between 8 and 16 years of age (mean age 12y 1mo [SD 2y 4mo]) with MMC from three German paediatric centres and their mothers completed standardized measures on HRQOL (KINDL‐R) and limitations in ADL (Childhood Health Assessment Questionnaire). Lesion level was thoracic in nine, sacral in 25, and lumbosacral in 11 patients. Twenty‐one patients were community walkers, 17 were able to walk in the home, and seven used a wheelchair. Two‐thirds had health problems related to the central nervous system causing current difficulties (eight patients had a shunt, six had hydrocephalus, and 10 had a tethered cord). Patients in the study group reported diminished overall HRQOL compared with norm data, specifically in the dimensions of emotional well‐being, self‐esteem, and peer relations. Adolescents reported diminished HRQOL in the dimension of peer relations. Most medical parameters as well as limitations in ADL were not significantly associated with HRQOL. Our findings confirm the results of studies which dispute a linear inverse association between condition severity and HRQOL and emphasize the importance of peer relations in young patients with MMC.
Is the modified Tardieu scale in semi‐standing position better associated with knee extension and hamstring activity in terminal swing than the supine Tardieu?
Authors: Faber Irene R , Nienhuis Bart , Rijs Nique P A M , Geurts Alexander C H , Duysens Jacques
Published: June 2009

The aim of this study was to investigate whether the modified Tardieu scale (MTS) in a semi‐standing position, used for the assessment of hamstrings spasticity, was better associated with knee extension and hamstrings activity in terminal swing than the MTS in a supine position in children with cerebral palsy (CP). Seven children diagnosed with spastic CP (Gross Motor Function Classification System Levels I‐II) and seven healthy comparison children participated in the study. An instrumented MTS in supine and semi‐standing position and an instrumented gait assessment were conducted. Results showed that spasticity‐related outcomes of the semi‐standing MTS do not show better associations with terminal swing characteristics of gait than the same outcomes of the supine MTS in children with spastic CP. Only the passive restricted knee angle from the supine MTS was strongly associated with the maximum knee extension during gait (rs=0.99; p <0.001), suggesting that hamstrings length is more important for terminal swing behaviour than hamstrings spasticity.
Autism and diagnostic substitution: evidence from a study of adults with a history of developmental language disorder
Authors: Bishop Dorothy V M , Whitehouse Andrew J O , Watt Helen J , Line Elizabeth A
Published: June 2009

Rates of diagnosis of autism have risen since 1980, raising the question of whether some children who previously had other diagnoses are now being diagnosed with autism. We applied contemporary diagnostic criteria for autism to adults with a history of developmental language disorder, to discover whether diagnostic substitution has taken place. A total of 38 adults (aged 15–31y; 31 males, seven females) who had participated in studies of developmental language disorder during childhood were given the Autism Diagnostic Observation Schedule ‐ Generic. Their parents completed the Autism Diagnostic Interview ‐ Revised, which relies largely on symptoms present at age 4 to 5 years to diagnose autism. Eight individuals met criteria for autism on both instruments, and a further four met criteria for milder forms of autistic spectrum disorder. Most individuals with autism had been identified with pragmatic impairments in childhood. Some children who would nowadays be diagnosed unambiguously with autistic disorder had been diagnosed with developmental language disorder in the past. This finding has implications for our understanding of the epidemiology of autism.
Bilateral periventricular nodular heterotopia and lissencephaly in an infant with unbalanced t(12;17)(q24.31; p13.3) translocation
Authors: Grosso Salvatore , Fichera Marco , Galesi Ornella , Luciano Daniela , Pucci Lucia , Giardini Francesca , Berardi Rosario , Balestri Paolo
Published: June 2009

Periventricular nodular heterotopia and Miller‐Dieker syndrome are two different disorders of brain development. Miller‐Dieker syndrome exhibits classical lissencephaly and is related to defects in the lissencephaly gene (LIS1). Periventricular nodular heterotopia is characterized by aggregates of grey matter adjacent to the lateral ventricle and is mainly linked to mutations in the Filamin A (FLNA) gene. We describe a male infant presenting with facial dysmorphisms resembling those of Miller‐Dieker syndrome, neuromotor delay, and drug ‐ resistant infantile spasms. Magnetic resonance imaging of the brain showed periventricular nodular heterotopia overlaid by classical lissencephaly with complete agyria. Cytogenetic and molecular investigations detected a maternally inherited unbalanced translocation involving chromosome arms 17p and 12q. This resulted in partial monosomy of 17p13.3→pter and partial trisomy of 12q24.3→qter No mutation was found in the FLNA gene. The patient died at the age of 22 months from respiratory insufficiency during an infection of the lower respiratory tract. Our observation extends the list of the overlying cortical malformations associated with periventricular nodular heterotopia. It remains to be established whether this peculiar neuronal migration disorder represents a phenotype totally linked to 17q13.3 deletion or results from a combination of gene defects at 17q13.3 and 12q24.3.
The King's Outcome Scale for Childhood Head Injury and injury severity and outcome measures in children with traumatic brain injury
Authors: Calvert Sophie , Miller Helen E , Curran Andrew , Hameed Biju , McCarter Renée , Edwards Richard J , Hunt Linda , Sharples Peta Mary
Published: June 2009

The aim of this study was to relate discharge King's Outcome Scale for Childhood Head Injury (KOSCHI) category to injury severity and detailed outcome measures obtained in the first year post‐traumatic brain injury (TBI). We used a prospective cohort study. Eighty‐one children with TBI were studied: 29 had severe, 15 moderate, and 37 mild TBI. The male:female ratio was 1.8:1. The mean age was 11 years 10 months (SD 3.6, range 5–16y). Discharge KOSCHI categories were good (n=34), moderate (n=39), severe (n=6), and unclassifiable (n=2). KOSCHI category correlated strongly with admission Glasgow Coma Score, length of hospital stay, and post‐traumatic amnesia. It also correlated significantly with Verbal IQ and Performance IQ (Wechsler); measures of attention; health status (Health Utilities Index [HUI]); health‐related quality of life (Pediatric Quality of Life Inventory [PedsQL]); depressive symptoms (Birleson Depression Scale) assessed within 3 months postTBI; and with Verbal IQ, selective attention (map mission), and HUI and PedsQL domains assessed at least 6 months post‐TBI discharge. KOSCHI did not correlate with behaviour or executive function. We conclude that the KOSCHI scored at hospital discharge correlates with severity of injury and some cognitive, health status, and HRQL outcomes early after TBI. It is not helpful at predicting later difficulties, or behavioural and emotional problems.
Aicardi‐Goutières syndrome: an important Mendelian mimic of congenital infection
Authors: Crow Yanick J , Livingston John H
Published: June 2009

Aicardi‐Goutières syndrome (AGS) is a rare, genetically determined encephalopathy whose importance from a clinical viewpoint is magnified because of the risk of misdiagnosis as the sequelae of congenital infection. Recent molecular advances have shown that AGS can be caused by mutations in any one of at least five genes (four of which have so far been identified), most commonly on a recessive basis but occasionally as a dominant trait. Additionally, a recent genotype–phenotype correlation has shown that two clinical presentations can be delineated; an early onset neonatal form highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later‐onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Evidence is emerging to show that the nucleases defective in AGS are involved in removing endogenous nucleic acid species produced during normal cellular processing, and that a failure of this removal results in inappropriate activation of the innate immune system. This hypothesis explains the phenotypic overlap of AGS with congenital infection and some aspects of systemic lupus erythematosus, where a similar interferon alpha‐mediated innate immune response is triggered by viral and host nucleic acids respectively.
Chronic post‐traumatic headache after head injuryin children and adolescents
Authors: Kirk Charlotte , Nagiub George , Abu‐Arafeh Ishaq
Published: June 2009

This was a prospective, observational study of children aged 3 to 15 years admitted to hospital with head injury (HI). Demographic data and information on the nature of the HI, and history of premorbid headache were collected. A structured telephone questionnaire was used to interview parents and children 2 months after injury and at 4‐monthly intervals for up to 3 years, if headache was reported. One hundred and ninety children were admitted with HI. Data were available on 117 children (81 males, 36 females; mean age 8y 5mo [SD 3y 1mo]). HI was minor in 93 patients and significant in the rest. Minor HI was defined as a closed injury, no loss of consciousness, and a Glasgow Coma Score (GCS) of 13 to 15. Significant HI was associated with loss of consciousness for >30 minutes, GCS of <13, and post‐traumatic amnesia for >48 hours. Eight children (five males, three females; mean age 10y 7mo [SD 2y]) reported chronic post‐traumatic headache (CPTH). Five children had episodic tension‐type headache and three had migraine with or without aura. Headache resolved over 3 to 27 months in all except one child who was lost to follow‐up. Premorbid headache in three children transformed in frequency and type following HI. These patients were excluded from the study. CPTH is common after minor and significant HI. It has the clinical features of tension‐type headache and migraine and has a good prognosis.
Growth failure in children with intractable epilepsy is not due to increased resting energy expenditure
Authors: Bergqvist A G Christina , Trabulsi Jillian , Schall Joan I , Stallings Virginia A
Published: June 2009

The aim of this study was to evaluate the resting energy expenditure (REE) of children with intractable epilepsy (IE) compared with healthy children, and to determine factors that contribute to the pattern of REE. REE, growth status, and body composition were assessed in 25 prepubertal children with IE (15 males, 10 females; mean age 5y 5mo [SD 2y 2mo] range 2–9y) with and without cerebral palsy (CP) and compared with those in 75 healthy children of similar age, sex, and fat free mass (FFM; 43 males, 32 females; mean age 6y 4mo [SD 1y 8mo], range 2–9y). Of the 25 children with IE, 12 had generalized and 13 partial seizures; 10 children had CP (four hemiplegia, one diplegia, and five tetraplegia); 18 were ambulators. REE (kcal/d), determined by indirect calorimetry, was expressed as a percentage of that predicted using Schofield equations. Energy intake from 3‐day weighed food records was assessed for children with IE only and expressed as a percentage of estimated energy requirement. Compared with healthy children, children with IE had significantly lower percentage (Student's t‐test, p<0.05) of predicted REE (111 [SD 13] vs 104 [SD 4]), weight z‐score, body mass index z‐score, and FFM. Using multiple regression, REE adjusted for FFM, fat mass, and sex were significantly lower in children with IE and CP (−110 kcal/d, 95% confidence interval −199 to −21, p=0.016). In children with IE, energy intake was also a statistically significant predictor of REE. CP largely explained the suboptimal growth status and lower REE of children with IE compared with healthy children.
Respiratory patterns and strategies during feeding in preterm infants
Authors: Vice Frank L , Gewolb Ira H
Published: June 2009

Because patterns of integration of respiration into rhythmic suck‐swallow efforts are highly variable, we examined the vagaries of respiratory efforts as they evolve from the first tentative attempts at integration through more complex rhythmic interactions, with a focus on several strategies in which breathing and suck‐swallow are coordinated. Thirty‐four preterm infants (18 males, 16 females) of 26 to 33 weeks gestational age, 32 to 40 weeks postmenstrual age (PMA), and 2 to 12 weeks postnatal age were studied weekly from initiation of bottle feeding (using breast milk or preterm formula, both fed from a bottle) until discharge, with simultaneous digital recordings of pharyngeal pressure, nasal thermistor airflow, and thoraco‐abdominal strain‐gauge readings. Exceptional patterns of feeding‐adapted variations of respiration were noted, including breathing during swallow, alternating blocks of suck‐swallow and respiration efforts, narial airflow without thoracic movement, modulation of respiratory phase relationship against swallow rhythm, and paired rhythms with swallow:breath ratios of more than 1:1. Some of these strategies were developmentally regulated. Alternating blocks of suck‐swallow and respiratory efforts were only seen in the earliest (PMA 32–33 wks) studies. In contrast, coordination and phase relationships of suck‐swallow and breathing stabilized over time, as did the percentage of synchronized narial and thoracic respiratory efforts, which increased significantly after 36 weeks PMA compared with synchronization at 32 to 33.9 and 34 to 35.9 weeks PMA (p<0.05). There was also a significant positive correlation between percentage synchronization and PMA (r=0.58; p<0.001). The strategies and patterns noted here further clarify the developmentally regulated coordination of suck, swallow, and respiration into mature infant feeding, and may be predictive of those infants with short‐ and long‐term feeding or developmental difficulties.
Current methodological issues in the study of children with inherited neuromuscular disorders
Authors: Mercuri Eugenio , Messina Sonia , Pane Marika , Bertini Enrico
Published: June 2009

Several clinical trials assessing children with hereditary neuromuscular disorders have been performed over the last decade. These studies highlighted issues related to design and performance of clinical studies assessing children with this group of disorders. This article reviews recent literature and clinical experience in this area, highlighting methodological shortcomings and disease‐specific clinical confounding factors that should be considered for future study design. The state of the art of outcome measures in neuromuscular disorders will be discussed, and suggestions for future clinical trials are presented.
Applying Dutch and US versions of the BSID‐II in Dutch children born preterm leads to different outcomes
Authors: Westera J J , Houtzager B A , Overdiek B , Van Wassenaer A G
Published: June 2009

The aim of the present study was to evaluate whether the application of Dutch versus US test procedures and norms of the Bayley Scales of Infant Development ‐ 2nd edition (BSID‐II) leads to different developmental outcomes. The BSID‐II was administered to 376 preterm infants (191 males, 185 females; mean gestational age 30wks [SD 2.7], mean birth‐weight 1242g [SD 385]) at corrected ages of 6, 12, 24, and/or 36 months. Raw scores were calculated twice with US and Dutch test procedures. Raw scores as well as Mental Developmental Index (MDI) and Psychomotor Developmental Index (PDI) scores, calculated on the basis of Dutch versus US normative data, were compared. Small but statistically significant Dutch—US differences were found between raw scores. Large, clinically relevant Dutch—US differences were found for MDI and PDI scores, especially at 6 and 12 months. These differences were likely to have been caused by a bias in the Dutch normative data, although a slower developmental pace of Dutch children in general could also have a role. This study highlights the problems that can occur when using a test that was developed in another country, even when local standardization is available.
Life expectancy in cerebral palsy: an update
Authors: Strauss David , Brooks Jordan , Rosenbloom Lewis , Shavelle Robert
Published: June 2009

This paper clarifies and updates some issues of life expectancy in cerebral palsy. These are: (1) the definition of life expectancy and how it is calculated; (2) the secular trends that have occurred since the data for the 1998 paper were collected; (3) revised estimates reflecting improvements of some of the analytical methods and statistics provided in that paper; (4) comparison of life expectancies among countries; (5) issues regarding quality of care; and (6) consideration of prospective life expectations in addition to current life expectancy.
Progressive hemispheric shrinking in hemimegalencephaly: a possible role for seizure‐related neuronal loss
Authors: Becherini Francesca , Pisano Tiziana , Castagna Maura , Iannelli Aldo , Guerrini Renzo
Published: June 2009

Hemimegalencephaly (HME) is a developmental brain lesion consisting of a unilateral enlarged, dysplastic, and often highly epileptogenic cerebral hemisphere. Most patients exhibit early onset intractable seizures, status epilepticus, hemiplegia, hemianopsia, and developmental delay. Major surgical procedures are advocated for limiting the devastating consequences of epilepsy. We studied a female with HME, early onset intractable seizures and recurrent status epilepticus, in whom progressive hemiatrophy of the enlarged hemisphere and normal growth of the contralateral hemisphere, exceeding the size of the dysplastic hemisphere, was demonstrated by magnetic resonance imaging. Histopathology, following functional hemispherectomy at the age of 7 years, demonstrated severe neuronal loss with an elevated number of cells exhibiting the morphological and biochemical features of apoptosis. Eighteen months after surgery the patient was seizure‐free (Engel class I) and exhibited improved motor and language skills, alertness and social behaviour. We hypothesize that nearly continuous seizure activity might sustain seizure‐induced brain injury in the dysplastic hemisphere but causal heterogeneity and associated anatomical factors may influence differently the individual predisposition to atrophic changes.
Pain and activity limitations in children with Duchenne or Becker muscular dystrophy
Authors: Zebracki Kathy , Drotar Dennis
Published: June 2009

The purpose of this study was to examine the prevalence and characteristics of pain in children with Duchenne (DMD) or Becker (BMD) muscular dystrophy, including the nature of disagreements concerning pain symptoms among children, parents, and physicians, and limitations in daily activities. Male children (age 8–18y,n=53) and parents (n=53) completed questionnaires assessing pain intensity (visual analogue scale), pain frequency (Likert scale [LS]), pain duration (LS), emotional distress due to pain (LS), and pain location (body outline markings). The Child Activity Limitations Interview was also completed by both raters to assess daily activities that are limited by recurrent pain. Physicians completed a form indicating medical history and pain symptoms. The majority of children with DMD (mean age 13y 11mo [SD 3.38]; range 8–18y) or BMD (mean 14y 10mo [SD 1.48]; range 12–17y) were non‐ambulatory (79 and 50% respectively) and experienced pain according to self (54–80%) and parent reports (70–90%). Pain typically occurred at least once per week and was of mild to moderate intensity. Most children experienced pain for less than a few hours and little to moderate levels of emotional distress due to pain. Pain occurred in the lower back, spine, and legs, and was described as ‘aching’. Children and parents indicated significantly more intense pain than the physician. Actual agreement between parent and child report on pain symptoms was poor to fair. Pain is a common occurrence in children with DMD or BMD, yet may be under‐recognized. Pain assessment needs to be a standard part of care and may identify difficulties faced by these children to be targeted by interventions.
Development of the Daily Activities of Infants Scale: a measure supporting early motor development
Authors: Bartlett Doreen J , Fanning Jamie Kneale , Miller Linda , Conti‐Becker Angela , Doralp Samantha
Published: June 2009

We describe the development and preliminary psychometric testing of the Daily Activities of Infants Scale (DAIS), a parent‐completed measure of opportunities parents provide infants for development of postural control and movement. First we obtained 1300 photographs of typical activities from 17 families with infants aged 4 to 11 months. Through consensus we established nine dimensions of activities, graded across three levels of opportunity for development. Pilot testing supported content validity of the DAIS. Subsequently, 50 parents of infants born preterm aged 4 to 11 months participated in psychometric testing. There were 25 male and 25 female infant participants with a mean gestational age of 29.4 weeks (SD 3.6) and a mean birthweight of 1266 grams (SD 635). We found that completion of the DAIS over 1 day was representative of data collected over 3 sequential days. Older infants obtained significantly higher DAIS scores than younger infants, providing preliminary evidence for discriminant validity. The DAIS scores demonstrated a part‐correlation of 0.20 (p<0.01) with scores on the Alberta Infant Motor Scale obtained concurrently, providing some evidence for convergent validity. The intraclass correlation coefficients reflecting interrater reliability and test–retest reliability of the total DAIS score were 0.76 (95% confidence interval [CI] 0.60–0.86) and 0.77 (95% CI 0.60–0.87) respectively. The DAIS has sufficient reliability and validity for use in clinical practice and research.
Skeletal maturation in children with cerebral palsy and its relationship with motor functioning
Authors: Van Eck Mirjam , Dallmeijer Annet J , Voorman Jeanine M , Becher Jules G
Published: June 2009

The objective of this study was to describe skeletal maturation in relation to chronological age in children with cerebral palsy (CP) aged 9 to 16 years, and to analyze the relationship between skeletal maturation and motor functioning. The skeletal age of 100 children with CP (37 females, 63 males; age 9, 11, or 13y; 73 ambulant, 27 non‐ambulant) was determined over a period of 3 years based on X‐rays of the hand (Greulich and Pyle technique). Motor functioning was measured with the Gross Motor Function Measure‐66. The skeletal age of females with CP was significantly higher than their chronological age, but this did not apply to males. Longitudinal analysis showed no difference in the course of skeletal age in relation to chronological age over a 3‐year period for sex or for level of ambulation. No association was found between changes in skeletal age and changes in gross motor function over the 3‐year period. Skeletal age during (pre‐)puberty in females with CP is advanced in relation to chronological age. No evidence was found that children with CP are at risk for deterioration in gross motor function as a result of skeletal maturation during puberty.
Are amygdalar volume alterations in children with Tourette syndrome due to ADHD comorbidity?
Authors: Ludolph Andrea G , Pinkhardt Elmar H , Tebartz van Elst Ludger , Libal Gerhard , Ludolph Albert C , Fegert Jorg M , Kassubek Jan
Published: June 2009

Recent studies have shown that changes in the basal ganglia circuitry and limbic loops may play an important role both in Tourette syndrome (TS) and attention‐deficit–hyperactivity disorder (ADHD). This study aimed to investigate in vivo possible morphological alterations of the amygdala as a key component of the limbic system. Amygdalar and total brain volumes were measured in three‐dimensional magnetic resonance imaging data sets of 17 male patients with TS (mean age 11y 8mo [SD 2y]; range 9–16y) and 17 age‐matched comparison children (mean age 12y 6mo (SD 2y 1mo); range 9–17y) by volume‐of‐interest‐based volumetry. Eight members of the TS group also fulfilled the diagnostic criteria for ADHD. A significant decrease in the left‐hemispheric amygdalar volumes and in the proportions of amygdalar to total brain volumes was observed in members of the TS group compared with the comparison group. Amygdalar volumes did not correlate with tic severity, but with behavioural impairment and especially with symptoms of ADHD. The amygdalar volume reduction might be the pathoanatomical correlate of an impaired input of the amygdala to the striatum and frontal cortex. Future studies should investigate if the involvement of the amygdala is due to TS or rather caused by the genetically‐linked most frequent comorbidity ADHD.
The combined burden of cognitive, executive function, and psychosocial problems in children with epilepsy: a population‐based study
Authors: Høie B , Sommerfelt K , Waaler P E , Alsaker F D , Skeidsvoll H , Mykletun A
Published: June 2009

The combined burden of psychosocial (Achenbach scales), cognitive (Raven matrices), and executive function (EF) problems was studied in a population‐based sample of 6‐ to 12‐year‐old children with epilepsy (n=162; 99 males, 63 females) and in an age‐ and sex‐matched control group (n=107; 62 males, 45 females). Approximately 35% of the children with epilepsy had severe non‐verbal cognitive problems. In those that did not, mild cognitive problems (26% vs 11%, p=0.005), EF problems (31% vs 11%, p<0.001), and psychosocial problems (45% vs 10%, p<0.001) were each much more common than among controls. Having problems in two or all three of these areas simultaneously was more frequent among the children with epilepsy (14% vs. 3%, p<0.001 and 4% vs 0%, p<0.001 respectively). Excluding those having remote symptomatic epilepsy aetiology did not change the problem load significantly for the children with epilepsy with the important exception that having severe non‐verbal problems was approximately halved from 35 to 18%. In 30 children with benign epilepsy of childhood with centrotemporal spikes, mild cognitive problems were somewhat more common, but psychosocial and EF problems were similar compared with control children.
Head shape measurement standards and cranial orthoses in the treatment of infants with deformational plagiocephaly
Authors: McGarry Anthony , Dixon Melville T , Greig Robert J , Hamilton David R L , Sexton Sandra , Smart Heather
Published: June 2009

This review aims to determine how head shape is measured and describes the use of orthoses in the management of deformational plagiocephaly. A systematic review was conducted and papers published in English up to and including 2006 were sourced from nine databases. After initial screening, 20 papers were included; three literature reviews and 17 original papers. Of the original papers, eight concerned the method of head shape measurement. Measurements are important in determining clinical classification and treatment modality of deformational plagiocephaly. All studies were appraised and assigned a level of evidence according to the Scottish Intercollegiate Guidelines Network. Methodological quality was inadequate. Publications involving the use of cranial orthoses used convenience samples, were not blinded, and used different measurement techniques. No comparison groups were included and participants were not randomized. Evidence suggests that conservative treatments might reduce skull deformity although the quality is poor. Clinical studies investigating the use of cranial orthoses reported beneficial effects. Further research is required to identify the efficacy of cranial orthoses in the treatment of deformational plagiocephaly based on a standardized measurement technique to facilitate classification of this condition.
Results of treatment when orthopaedic surgeons follow gait‐analysis recommendations in children with CP
Authors: Lofterød Bjørn , Terjesen Terje
Published: June 2009

The aim of the present study was to assess the outcome of orthopaedic surgery in ambulant children with cerebral palsy, when the orthopaedic surgeons followed the recommendations from preoperative three‐dimensional gait analysis. 55 children, mean age 10y 11mo, were clinically evaluated by orthopaedic surgeons who proposed a surgical treatment plan. After gait analysis and subsequent surgery, three groups were defined. In group A, there was agreement between clinical proposals, gait‐analysis recommendations, and subsequent surgery in 128 specific surgical procedures. In group B, 54 procedures were performed based on gait analysis, although these procedures had not been proposed at the clinical examination. In group C, 55 surgical procedures that had been proposed after clinical evaluation were not performed because of the gait‐analysis recommendations. The children underwent follow‐up gait analysis 1 to 2 years after the initial analysis. The kinematic results were satisfactory, with improvement in most of the gait parameters in children who had undergone surgery and no significant deterioration in those who were not operated. In group A, there were significant improvements in maximum hip extension in stance, minimum knee flexion in stance, timing of maximum knee flexion in swing and knee range of motion, maximum ankle dorsiflexion in stance, and mean femur rotation in stance. In group B, there were significant improvements in maximum hip extension in stance, minimum knee flexion in stance, and knee range of motion. We conclude that gait analysis was useful in confirming clinical indications for surgery, in defining indications for surgery that had not been clinically proposed, and for excluding or delaying surgery that was clinically proposed.
Work participation among young adults with spina bifida in the Netherlands
Authors: Van Mechelen M C , Verhoef M , Van Asbeck F W A , Post M W M
Published: June 2009

The aim of this study was to: (1) assess work participation among young adults with spina bifida, (2) identify problems perceived in finding employment, and (3) examine which determinants are related to work participation. This cross‐sectional study was a follow‐up study to the Adolescents with SPina bifida In the Netherlands (ASPINE) study. Data regarding work participation and problems finding employment were collected with questionnaire developed by the authors. Data on disease characteristics were taken from the ASPINE database. Responses of 136 participants were analyzed (77 females, 59 males; mean age 26 years 1 month [SD 3y1mo], range 21–32y). Twenty participants had spina bifida occulta and 116 had spina bifida aperta, 96 of whom also had hydrocephalus. Work participation rate was 62.5%, of which 22.4% was in a sheltered workplace. Significant determinants of having paid work for at least 1 hour a week were: level of education, level of lesion, hydrocephalus, IQ, functional independence, and ambulation. Significant determinants of full‐time employment were the same, plus sex and type of spina bifida. In a multivariate backward logistic regression analysis, however, only level of education remained a significant predictor of work participation. Sex, level of education, and self‐care independence were significant predictors of full‐time employment. This study shows the importance of educational support and self‐care independence training for children with spina bifida.
Quantifying weight bearing while in passive standers and a comparison of standers
Authors: Kecskemethy Heidi H , Herman Daniel , May Ryan , Paul Kathleen , Bachrach Steven J , Henderson Richard C
Published: June 2009

Mechanical loading plays an important role in skeletal health, and this is a major reason standing devices are widely used with non‐ambulatory persons. However, little is known about the true axial loading that occurs while in a stander, or the factors which may impact loading. The purpose of this study was to quantify weight borne while in a stander, and to directly compare different standers.

Load measuring footplate adaptors were designed and fabricated specifically for this study. Weight bearing loads in 20 non‐ambulatory persons with quadriplegic cerebral palsy aged 6 to 21 years (median 14y) were continuously monitored during routine 30‐minute standing sessions. Fourteen participants were female, six were male; one was Gross Motor Function Classification System (GMFCS) Level IV, and 19 were GMFCS Level V. Each participant was monitored on four to six occasions over an 8‐week period, two to three times in each of two different standers (total 108 standing sessions). Weight bearing loads ranged widely from 37 to 101% of body weight. The difference between standers was as much as 29% body weight.

There is wide variance in the actual weight borne while in passive standers. The type of stander utilized is one factor which can significantly affect the amount of weight borne.
Prevalence, risk factors, and natural history of positional plagiocephaly: a systematic review
Authors: Bialocerkowski Andrea E , Vladusic Sharon L , Wei Ng Choong
Published: June 2009

This review synthesized current research evidence on the prevalence, risk factors, and natural history of positional plagiocephaly. Research published between 1985 and 2007 was sourced from 13 databases. Evidence was categorized according to a hierarchy and rated on a standardized critical appraisal tool. These evaluations were incorporated into a narrative synthesis of the main results. Eighteen studies met inclusion criteria (prevalence: n=3, risk factors: n=17, natural history: n=1). The methodological quality of studies was fair. The point prevalence of positional plagiocephaly appears to be age‐dependent and may be as high as 22.1% at 7 weeks of age. Point prevalence tends to decrease with age and may be as low as 3.3% at 2 years. When compared with historical data, the prevalence of positional plagiocephaly appears to have remained stable over the last four decades. Assisted delivery, first born child, male sex, cumulative exposure to the supine position, and neck problems may increase the risk of positional plagiocephaly. To reduce the risk of positional placiocephaly, infants should experience a variety of positions, other than supine, while they are awake and supervised, and early treatment may be warranted for infants with neck problems and/or strong head preference.
Prevalence of autism in children born to Somali parents living in Sweden: a brief report
Authors: Barnevik–Olsson Martina , Gillberg Christopher , Fernell Elisabeth
Published: June 2009

In a geographical area of Stockholm, with a relatively large Somali immigrant population, parents as well as teachers in special schools and staff at habilitation centres have raised concerns over whether children with a Somali background are over‐represented in the total group of children with autism. The aim of the study was, therefore, to investigate the prevalence of autism in children with parents from Somalia, living in Stockholm county, and to compare the prevalence in children of Somali background with that in the non‐Somali group. We reviewed the records of 17 children (13 males, four females), born between 1988 and 1998 (age range 7–17y) and with a Somali background, who had a diagnosis of autistic disorder or pervasive developmental disorder not otherwise specified (PDDNOS) and were registered at either of the two autism habilitation centres for school‐aged children. The prevalence of autistic disorder or PDDNOS was found to be three to four times higher than in the non‐Somali group (0.7% vs 0.19%). All children also had learning disability.* Our findings warrant further investigations of possible aetiological factors behind the increased prevalence of autistic disorders in children of Somali origin found in this area in Sweden.
Comparing children’s and parents’ perspectives of health outcome in paediatric hydrocephalus
Authors: Kulkarni Abhaya V , Cochrane D Douglas , McNeely P Daniel , Shams Iffat
Published: June 2009

This study exampled the properties of a child‐completed version of the Hydrocephalus Outcome Questionnaire (cHOQ) and compared these with parental responses to the HOQ (parent version). This was a cross‐sectional study in the outpatient clinics at three Canadian paediatric hospitals (Toronto, Vancouver, and Halifax). All cognitively‐capable children with previously treated hydrocephalus who were aged between 6 and 19 years were eligible. Parents completed the HOQ and the Health Utilities Index Mark 3; children completed the cHOQ. A total of 273 children participated (146 males, 127 females; mean age 14y 1mo, SD 2y 7mo). Internal consistency of the cHOQ was 0.93 and test–retest reliability was 0.86 (95% confidence interval 0.78–0.92). Mother–child agreement and father–child agreement were 0.57 (0.40–0.68) and 0.62 (0.48–0.73) respectively. Agreement was higher for assessments of physical health, but lower for assessments of cognitive health and social–emotional health. There was greater parent–child agreement for older children. When there was disagreement, it seemed that children tended to rate their health better than their parents did. In older children with hydrocephalus, the cHOQ appears to be a scientifically reliable means of assessing long‐term outcome. The differences in child and parent perceptions of health need to be appreciated when conducting outcome studies in this population.
Compound muscle action potentials in newborn infants with spina bifida
Authors: Geerdink Niels , Pasman Jaco W , Rotteveel Jan J , Roeleveld Nel , Mullaart Reinier A
Published: June 2009

The aim of this study was to investigate the relationship between compound muscle action potentials (CMAPs) and neurological impairment in newborn infants with spina bifida. Thirty‐one newborn infants (17 males, 14 females, mean gestational age 39wks [SD 2]; mean birthweight 3336g [SD 496]) with spina bifida were investigated at a median age of 2 days (range 1–18d). Motor and sensory impairment and muscle stretch reflexes were assessed and neuroimaging was performed. CMAPs were recorded from the tibialis anterior muscle and the gastrocnemius muscle after percutaneous electrical nerve stimulation. CMAPs were obtained in almost all infants. The area under the curve of the CMAP (CMAP‐area) was associated with motor and sensory impairment and with the presence of muscle stretch reflexes, but not with the morphological level of the spinal anomaly. These associations were stronger for the gastrocnemius muscle than for the tibialis anterior muscle. In conclusion, the CMAP‐area correlates with neurological impairment in neonatal spina bifida and provides an estimate of residual motor neuron function in affected spinal segments. The assessment of CMAPs after percutaneous electrical nerve stimulation is recommended as an additional instrument to the clinical neurological examination and imaging studies.
Muscle strength training to improve gait function in children with cerebral palsy
Authors: Eek Meta Nyström , Tranberg Roy , Zügner Roland , Alkema Kristina , Beckung Eva
Published: June 2009

The aim of the study was to investigate the influence of muscle strength training on gait outcomes in children with cerebral palsy. Sixteen children (two females, 14 males, Gross Motor Function Classification System levels I–II, mean age 12y 6mo, range 9y 4mo–15y 4mo) underwent muscle strength measurement using a handheld device, Gross Motor Function Measure (GMFM) assessment, three‐dimensional gait analysis, joint range of motion assessment, and grading of spasticity before and after 8 weeks of training. All participants had a diagnosis of spastic diplegia and could walk without aids. Training consisted of exercises for lower extremity muscles with free weights, rubber bands, and body weight for resistance, three times a week. Values for muscle strength below normal were identified in all children; this was most pronounced at the ankle, followed by the hip muscles. After training, muscle strength and GMFM scores increased, velocity was unchanged, stride length increased, and cadence was reduced. There was an increase in hip extensor moment and power generated at push off. Eight weeks of muscle strength training can increase muscle strength and improve gait function.
Dysphagia in children with severe generalized cerebral palsy and intellectual disability
Authors: Calis Elsbeth AC , Veugelers Rebekka , Sheppard Justine J , Tibboel Dick , Evenhuis Heleen M , Penning Corine
Published: June 2009

This study assessed the clinical indicators and severity of dysphagia in a representative sample of children with severe generalized cerebral palsy and intellectual disability. A total of 166 children (85 males, 81 females) with Gross Motor Function Classification System Level IV or V and IQ<55 were recruited from 54 daycare centres. Mean age was 9 years 4 months (range 2y 1mo–19y 1mo). Clinically apparent presence and severity of dysphagia were assessed with a standardized mealtime observation, the Dysphagia Disorders Survey (DDS), and a dysphagia severity scale. Additional measures were parental report on feeding problems and mealtime duration. Of all 166 participating children, 1% had no dysphagia, 8% mild dysphagia, 76% moderate to severe dysphagia, and 15% profound dysphagia (receiving nil by mouth), resulting in a prevalence of dysphagia of 99%. Dysphagia was positively related to severity of motor impairment, and, surprisingly, to a higher weight for height. Low frequency of parent‐reported feeding problems indicated that actual severity of dysphagia tended to be underestimated by parents. Proactive identification of dysphagia is warranted in this population, and feasible using a structured mealtime observation. Children with problems in the pharyngeal and esophageal phases, apparent on the DDS, should be referred for appropriate clinical evaluation of swallowing function.
Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study
Authors: Ramelli Gian Paolo , Silacci Charlotte , Ferrarini Alessandra , Cattaneo Claudio , Visconti Paola , Pescia Graziano
Published: June 2009

Microduplication of the 22q11.2 chromosomal region has been recognized since 1999 and has been associated with a highly variable phenotype. Neurodevelopmental impairment and behavioural problems are very common in patients with 22q11.2 duplication. Autism spectrum disorders (ASDs) have previously been reported in only two patients with 22q11.2 duplication and striking dysmorphic features. We report here on a 4‐year‐old male of healthy consanguineous parents presenting with ASD according to DSMIV, revised, criteria as a primary manifestation. The child walked at 16 months and started to say one word and some sounds. Parents noticed a subsequent developmental arrest. At 4 years his functional development age, evaluated by the Psychoeducational Profile, was roughly 6 months. Mild non‐specific facial dysmorphism was noted. Genetic analyses of the child demonstrated a de novo microduplication of the 22q11.2 chromosomal region. This genetic anomaly was best seen in interphases of blood lymphocytes and in buccal smear nuclei. Our case illustrates once again the clinical heterogeneity of the 22q11.2 duplication as well as the wide genetic complexity of ASD. We suggest that genetic evaluation of ASD should include fluorescence in‐situ hybridization analysis of the 22q11.2 chromosomal region.
Impaired word stress pattern discrimination in very‐low‐birthweight infants during the first 6 months of life
Authors: Herold Birgit , Höhle Barbara , Walch Elisabeth , Weber Tanja , Obladen Michael
Published: June 2009

Prosodic information, such as word stress and speech rhythm, is important in language acquisition, and sensitivity to stress patterns is present from birth onwards. Exposure to prosodic properties of the native language occurs prenatally. Preterm birth and an associated lack of exposure to prosodic information are suspected to affect language acquisition in preterm infants. Fifty healthy very low birthweight (<1500g) preterm German infants (24 males, 26 females; mean gestational age [GA] 27.6wks, range 26.4–29.9) and 103 comparison term infants (48 males, 55 females; mean GA 40wks, range 39.4–40.8) were recruited. Prosodic discrimination performance was assessed using the head‐turn preference paradigm, an objective behavioural psycholinguistic test for measuring orientation time (OT) to auditory stress patterns. Among matched preterm and term infants, preterm infants (n=30) did not differentiate stress patterns at the corrected age of 4 or 6 months. In term infants (n=30), the OT was longer towards the trochaic (stress on first syllable, characteristic for German) than the iambic (second syllable) stress patterns (11.64 vs 9.18s, p<0.001, and 11.02 vs 8.32s, p<0.001, at 4 and 6mo respectively). Neurodevelopmental scores (Bayley Scales of Infant Development, 2nd edn) were not different from reference values in both groups of infants. Preterm birth and deficient early prosodic information affect prosodic processing during the first half year of life.
Gastrointestinal and nutritional problems in severe developmental disability
Authors: Somerville Helen , Tzannes Gloria , Wood Jennifer , Shun Albert , Hill Christine , Arrowsmith Fiona , Slater Anne , O’Loughlin Edward V
Published: June 2009

The aim of this study was to describe the experience of 452 children and adults with a severe developmental disability who presented to a multidisciplinary clinic with swallowing, nutritional, and gastrointestinal problems. Data were obtained by chart review. Two hundred and ninety‐four children (age range 7mo–19y, 173 males, 121 females) and 158 adults (age range 18–53y; 90 males, 68 females) were assessed over 5 years. One hundred and eighty‐two children and 86 adults had cerebral palsy. Approximately 90% were wheelchair dependent and totally dependent on caregivers for feeding; 60% had epilepsy. Pulmonary aspiration was identified by oesophageal videofluoroscopy in 41% of 174 children and 47% of 34 adults. Chronic oesophagitis andHelicobacter pyloriwere found in 57% of 182 children and 76% of 66 adults undergoing endoscopy. Chronic suppurative lung disease was identified by computerized axial tomography in 94% of 62 children and all six adults studied. Most patients improved with simple interventions. However, gastrostomy was recommended in 140 children and performed in 91, and in 10 adults but performed in seven, whereas fundoplication was recommended in 111 children and performed in 74, and in six adults but performed in two. In conclusion, chronic oesophagitis, pulmonary aspiration, and chronic lung disease were identified in many patients with a severe developmental disability.