bluuebunny/crossref_metadata_2025 huggingface dataset:
Voxel‐based morphometry elucidates structural neuroanatomy of high‐functioning autism and Asperger syndrome
Authors: Kwon Hower , Ow Andrew W , Pedatella Kate E , Lotspeich Linda J , Reiss Allan L
Published: July 2010

Efforts to examine the structural neuroanatomy of autism by using traditional methods of imaging analysis have led to variable findings, often based on methodological differences in image acquisition and analysis. A voxel‐based computational method of whole‐brain anatomy allows examination of small patterns of tissue differences between groups. High‐resolution structural magnetic resonance images were acquired for nine males with high‐functioning autism (HFA; mean age 14y [SD3y 4mo]), 11 with Asperger syndrome (ASP; mean age 13y 6mo [SD2y 5mo]), and 13 comparison (COM) participants (mean age 13y 7mo [SD3y 1mo]). Using statistical parametric mapping, we examined contrasts of gray matter differences between the groups. Males with HFA and ASP had a pattern of decreased gray matter density in the ventromedial regions of the temporal cortex in comparison with males from an age‐matched comparison group. Examining contrasts revealed that the COM group had increased gray matter density compared with the ASP or combined HFA and ASP group in the right inferior temporal gyrus, entorhinal cortex, and rostral fusiform gyrus. The ASP group had less gray matter density in the body of the cingulate gyrus in comparison with either the COM or HFA group. The findings of decreased gray matter density in ventromedial aspects of the temporal cortex in individuals with HFA and ASP lends support to theories suggesting an involvement of these areas in the pathophysiology of autism, particularly in the integration of visual stimuli and affective information.
Systematic review of melatonin treatment in children with neurodevelopmental disabilities and sleep impairment
Authors: Phillips Louise , Appleton Richard E
Published: July 2010

Sleep disturbances in children with neurodevelopmental disabilities are common and frequently difficult to treat with conventional pharmacological and behavioural methods. Melatonin is a pineal hormone known to be important in the regulation of the circadian rhythm, including the sleep–wake cycle. This systematic review of available evidence from randomized clinical trials assesses whether melatonin plays a beneficial role in these children and, in particular, its effect on total sleep time, time to sleep onset (sleep latency), and number of awakenings. We also looked at a parental view of the effect. Randomized clinical trials were identified where oral melatonin was compared with a placebo in children with any type of neurodevelopmental disability and associated sleep disturbance. Only three studies, reporting a total of 35 children, fulfilled the criteria for inclusion. The two studies that reported time to sleep onset showed a significant decrease (p<0.05) in this specific outcome where melatonin was compared with a placebo. There was no significant effect of melatonin compared with a placebo on the other outcome measures of total sleep time, night‐time awakenings, and parental opinions. Despite the extremely limited randomized clinical trial data, melatonin appears to remain a commonly prescribed drug for disturbed sleep in children with neurodevelopmental abnormalities.
Victimization: a newly recognized outcome of prematurity
Authors: Nadeau Line , PhD Réjean Tessier , Robaey Philippe
Published: July 2010

Victimization by peers affects 10 to 20% of school children under the age of 12 years. Physical, verbal, and psychological victimization (being pushed, hit, called names, teased, being the target of rumours, theft, extortion) is associated with short‐ and long‐term adjustment problems, such as peer rejection, social withdrawal, low self‐esteem, anxiety, loneliness, and depression, as well as academic problems and school drop‐out. Research on populations of school children (primary and secondary) has associated victimization with personal risk factors (the victim's characteristics and behaviour) and interpersonal risk factors (social relationships between peers). Studies on the social adjustment of preterm children at school age show that, even in the absence of a major motor or cognitive disability, this population has several personal risk factors associated with victimization. The objective of this study was to compare the level of victimization experienced by a group of 96 seven‐year‐old children born extremely preterm (EP, <29 weeks of gestation; 49 females) against that experienced by a group of 63 term children (34 females) matched for age and sex, maternal level of education, and family socioeconomic status. The children born EP had a mean gestational age of 27.3 weeks (SD 1.2) and a mean birthweight of 1001.1g (SD 223) and normal birth weight children had a mean gestational age of 39.5 weeks (SD 1.5) and a mean birthweight of 3468.7g (SD 431). Physical and verbal victimization were assessed in a school setting by peers with individual sociometric interviews (Modified Peer Nomination Inventory). After controlling for physical growth (height and weight) at the age of 7 years, the data indicate two independent effects: males were more victimized than females, and children born preterm experienced more verbal victimization by their peers than their term classmates, even when participants with a visible motor, intellectual, or sensory disability were excluded. Several hypotheses are presented to account for the higher incidence of verbal victimization of preterm children.
Social skills of children with neurofibromatosis type 1
Authors: BA Belinda Barton , North Kathryn
Published: July 2010

Children with neurofibromatosis type 1 (NF1) have difficulties in forming friendships and are often rejected by their peers. Factors that contribute to these negative social outcomes are poorly understood. This study investigated the social skills of children with NF1 and the influence of comorbid conditions, such as attention‐deficit‐hyperactivity disorder (ADHD) and specific learning difficulties. We assessed and analyzed data from 79 children with NF1 (42 males, 37 females; mean age 11 years 6 months, SD 2 years 4 months) and 46 unaffected siblings (19 males, 27 females; mean age 12 years 1 month, SD 2 years 6 months; age range 8 to 16 years). Social skills were measured with the Social Skills Rating System. Children with NF1 had significantly poorer social outcomes than their unaffected siblings, and significantly poorer social skills in comparison with normative data. The presence of ADHD (in 39% of children with NF1) was the major risk factor for poor social functioning. Children with NF1 and ADHD had the poorest social skills and social outcomes when compared with children with NF1 only or children with NF1 and learning difficulties. These findings dispel the previous assumption that NF1 alone is associated with poor social functioning and has major implications for the development of effective interventions.
Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (γ‐hydroxybutyric aciduria)
Authors: Philippe A , MA J Deron , MD D Geneviève , de Lonlay P , Gibson KM , Rabier D , Munnich A
Published: July 2010

Succinic semialdehyde dehydrogenase (SSADH deficiency) (MIM 271980) is a defect in γ‐aminobutyric acid catabolism, resulting in the accumulation of γ‐hydroxybutyric acid (GHB) and causing neurological and cognitive disorders of varying severity. The non‐specific nature and the difficulties in detection of urinary GHB explain why this disorder is largely underdiagnosed. Of 350 patients identified worldwide, to date only six adults with SSADH deficiency have been reported in the literature. Here we describe two additional cases in brothers up to ages 26 and 28 years. This retrospective report sheds light on the clinical features of SSADH deficiency in relation to the physiopathological involvement of GHB, and tries to identify the specific neurodevelopmental pattern of this learning disability.* Features of this are: early impaired psychomotor development with hypotonia and disturbances in motor coordination; impaired development of language, mainly due to poor auditory perception; and seizures and psychotic features in late adolescence or adulthood. Moreover, narcolepsy‐like symptoms could be a consistent feature of the disease.
A volumetric study of parietal lobe subregions in Turner syndrome
Authors: Brown Wendy E , Kesler Shelli R , Eliez Stephan , Warsofsky Ilana S , Haberecht Michael , Reiss Allan L
Published: July 2010

Turner syndrome, a genetic disorder that results from the complete or partial absence of an X chromosome in females, has been associated with specific impairment in visuospatial cognition. Previous studies have demonstrated a relationship between parietal lobe abnormalities and visuospatial deficits in Turner syndrome. We used high‐resolution magnetic resonance imaging to measure parietal lobe subdivisions in 14 participants with Turner syndrome (mean age 13 years 5 months, SD 5 years) and 14 age‐matched controls (mean age 13 years 5 months, SD 4 years 7 months) to localize neuroanatomical variations more closely. Scans were acquired and analyzed for 14 females with Turner syndrome. Analyses of variance were used to investigate differences in regional parietal lobes. Females with Turner syndrome showed a bilateral parietal lobe reduction, specifically in the superior parietal and postcentral gyri. Full‐scale IQ scores were significantly positively correlated with postcentral tissue volume in the Turner syndrome group. Structural differences in the parietal lobe are localized specifically to the anterior and superior parietal lobe and might be related to the visuospatial and visuomotor deficits associated with Turner syndrome.
Arteriovenous malformations presenting with papilloedema
Authors: Fung Lai‐Wah Eva , Ganesan Vijeya
Published: July 2010

Cerebral arteriovenous malformations (AVMs) are fairly common and the majority of paediatric patients with this condition also present with intracranial haemorrhage. Two patients who had an incidental finding of an AVM associated with papilloedema are described here. The first was a 13‐year‐old male who presented after an accidental kick to the eyes. Examination revealed bilateral papilloedema. He gave a 2‐year history of intermittent headache. Brain magnetic resonance imaging (MRI) showed an unruptured AVM in the temporal lobe. Lumbar puncture revealed elevated cerebrospinal fluid pressure. Visual acuity and visual fields were normal. He was treated with acetazolamide and improved within a few weeks. He subsequently underwent stereotactic radiosurgery to the AVM. He discontinued acetazolamide due to adverse side effects and there was no recurrence of headache and papilloedema. The second patient was a 14‐year‐old male who had polyarticular juvenile chronic arthritis and received low‐dose steroids and methotrexate. Bilateral papilloedema was discovered during routine ophthalmology surveillance and he was otherwise asymptomatic neurologically. Brain MRI revealed an AVM in the posterior fossa. He had three embolization procedures, which have resulted in significant reduction in lesion size. The papilloedema resolved completely after the first two procedures, and visual acuity and fields remained normal. Here, possible underlying mechanism of raised intracranial pressure and importance of visual assessment in those with AVMs and their management are discussed.
Testing of the Spinal Alignment and Range of Motion Measure: a discriminative measure of posture and flexibility for children with cerebral palsy
Authors: Bartlett Doreen , Purdie Barbara
Published: July 2010

In this study we describe the development and preliminary psychometric testing of the Spinal Alignment and Range of Motion Measure (SAROMM). Through consultation with pediatric physiotherapists, the items were refined. Subsequently 25 children and adolescents with cerebral palsy (CP; 17 males, 8 females) with a mean age of 9 years 8 months (SD 4y 4mo), stratified by the Gross Motor Function Classification System (GMFCS, n=5 in each group), were recruited. Twenty‐two children had spastic CP, and one each was also diagnosed with hypotonic, athetoid, and mixed CP. Three children had hemiplegia, 12 had diplegia, and 10 had quadriplegia. These participants were examined by two physiotherapists on one occasion and by the primary physiotherapist again two weeks later. The intraclass correlation coefficients reflecting interrater and test‐retest reliabilities for the spine and range of motion subscales and the total scores were all above 0.80. Validity was supported by a significant contribution of GMFCS level and age to the SAROMM score (r2=0.44). The SAROMM has sufficient reliability and validity for use with children with CP in clinical and research settings by rehabilitation therapists.
Validity of a 1 minute walk test for children with cerebral palsy
Authors: McDowell Brona C , Kerr Claire , Parkes Jackie , Cosgrove Aidan
Published: July 2010

The concurrent validity of a 1 minute walk test at a child's maximum walking speed was assessed in children with bilateral spastic cerebral palsy (BSCP). The distance covered during the 1 minute walk test was compared with the children's gross motor function as assessed by the Gross Motor Function Measure (GMFM). Twenty‐four male and 10 female children with CP (mean age 11y, range 4 to 16y) participated in the study. Gross Motor Function Classification System (GMFCS) levels were; level I (n=3), level II (n=17), level III (n=10), and level IV (n=4). Participants had clinical diagnoses of symmetrical diplegia (n=19), asymmetrical diplegia (n=14), and quadriplegia (n=1). Results showed a significant correlation between GMFM score and the distance covered during the 1 minute walk (r=0.92; p<0.001). There was also a significant decrease in the distance walked with increasing GMFCS level (p<0.001). We concluded that the 1 minute walk test is a valid measure for assessing functional ability in children with ambulatory BSCP. Its cost‐effectiveness and user friendliness make it a potentially useful tool in the clinical setting. Further study needs to address its reliability and ability to detect change over time.
Special education needs of children with newly diagnosed epilepsy
Authors: Berg Anne T , Smith Susan N , Frobish Daniel , Levy Susan R , Testa Francine M , Beckerman Barbara , Shinnar Shlomo
Published: July 2010

Children with epilepsy often experience poor social and educational outcomes. This study aimed to determine the timing of services with respect to the onset of seizures. It also aimed to identify the aspects of childhood epilepsy (type of epilepsy, etiology, seizure control, and treatment) that are associated with the use of special education services. As part of a prospective community‐based study, 613 children were recruited when first diagnosed with epilepsy. Mean age at first seizure was 5 years 11 months (SD 4, range 1mo to 15y 8mo). Parents were interviewed 5 years after children were first diagnosed with epilepsy (n=542; 276 [51%] males). Children's mean age at time of interview was 11 years 10 months (SD 4y 1mo, range 5y 8mo to 21y 8mo). Etiology was classified as idiopathic (n=181, 33.4%), cryptogenic (n=261, 48.2%), and remote symptomatic (n=100, 18.5%). Service use was reported in 315 (58%) children. Compared with neurologically intact children (i.e. cryptogenic and idiopathic etiology; n=415, 77%), children with a remote symptomatic etiology and/or an epileptic encephalopathy (n=127, 23%) received services more frequently (88% vs 49%, p<0.001). In the former group, services were initiated for 66 (15%) children before their first seizure; according to age at onset, services were initiated before the first seizures in 12/164 (7.3%) if <5 years, 34/171 (19.9%) if 5–9 years, and 20/80 (25%) if >10 years. A large proportion of children with epilepsy, even if neurologically otherwise normal, receive special education services. Initiation of services often precedes onset of seizures even in neurologically intact children. This suggests that behavioral and cognitive abnormalities may predate the onset of epilepsy and are not necessarily the direct consequences of epilepsy.
Corrected head circumference centiles as a possible predictor of developmental performance in high‐risk neonatal intensive care unit survivors
Authors: Bolduc François V , Shevell Michael I
Published: July 2010

The aim of this study was to evaluate the predictive value of corrected head circumference (HC) centiles at 2 years of age with respect to developmental performance in a series of high‐risk neonatal intensive care unit (NICU) survivors with microcephaly. The study used a retrospective review of the clinical files of children seen in a clinic devoted to the follow‐up of all high‐risk survivors of a hospital's level III NICU. All children with microcephaly (occipital‐frontal circumference below the 2nd centile for sex) at 2 years of age were identified. The HC obtained at 2 years was corrected to the ages for which the absolute HC corresponded to either the 50th or 2nd centile for the child's sex. Of 312 high‐risk patients followed, 38 (12.2%) were microcephalic. Fifteen performed below the 50th age‐corrected HC centile (severe developmental delay), 12 performed between the 50th and 2nd age‐corrected HC centile (moderate developmental delay), and 11 performed above the 2nd age‐corrected HC centile (mild developmental delay). The absolute value of HC measurement was not a predictor of developmental performance. Of all clinical factors evaluated, only coexisting epilepsy was found to be a significant predictor of less than the 50th age‐corrected HC centile developmental performance (Chi2=6.134, p=0.01). We conclude that in a high‐risk population, the presence of microcephaly implies developmental impairment, though neither the absolute HC measurement nor the corrected HC centile is predictive. Coexisting epilepsy in this context appears to worsen developmental outcome.
A shared framework and language for childhood disability
Authors: Colver Allan
Published: July 2010

The social model of disability and the new sociology of childhood emphasize respectively the relevance of the environment to participation and the importance of quality of life. Such ideas can be readily understood by and shared among parents, young disabled people, professionals, and planners. They also make clearer what professionals are trying to do when supporting disabled children and their families. This article discusses these concepts and shows how they must be expressed in quantitative terms if they are to influence research, planning, and clinical practice.
Neuroimpairments, activity performance, and participation in children with cerebral palsy mainstreamed in elementary schools
Authors: Scehenker Rony , Coster Wendy J , Parush Shula
Published: July 2010

Participation and activity performance (motor and cognitive or behavioural) were examined in 148 children with cerebral palsy (CP; 87 males, 61 females; mean age 9y 8mo, SD 1y 11mo; range 6y 1mo to 13y 7mo), mainstreamed in fully inclusive (n=100) and in self‐contained classes (n=48) within general schools in Israel, using the School Function Assessment. Differences in participation within these groups were analyzed in relation to the type of CP (mainly spastic hemiplegia, spastic diplegia, and spastic tetraplegia), the level of impairment according to the Gross Motor Function Classification System (GMFCS; level II55%, level III 37%, and level IV 8%), and additional neuroimpairments. Univariate analyses of variance revealed significant differences in levels of participation and levels of activity performance between different types of CP and GMFCS levels. With regard to additional neuroimpairments, significant differences in participation were found for fully included children with speech and language impairments and those with learning disability within the self‐contained group. Physical activity performance partly accounted for differences in participation between children with different types of CP and different levels of motor impairment. These findings suggest that within the mainstreamed environment, participation and activity performance increase as motor disability and/or additional neuroimpairments (speech and language impairments and learning disability*) decrease.
Neurodevelopmental implications of ocular motor apraxia
Authors: Marr J E , Green S H , Willshaw HE
Published: July 2010

Ocular motor apraxia (OMA), a disorder of saccadic initiation, may be congenital or acquired. While the acquired form is frequently associated with significant neuropathology, the congenital form is often regarded as relatively benign. Many children with congenital OMA who were observed clinically have shown neurodevelopmental disturbance over time. A retrospective review was taken of 34 consecutive patients (22 males and 12 females), seen over a 20–year period, to evaluate the frequency and type of associated neurodevelopmental problems. Age at presentation ranged from 8 weeks to 14 years, with a mean age of 10 years. Of 29 children with congenital OMA, 15 had imaging evidence of structural central nervous system abnormalities (with cerebellar hypoplasia the most frequent abnormality detected). Eleven of the 14 patients with no structural abnormality showed abnormal neurodevelopment. This study suggests that congenital OMA is not a benign diagnosis, even in the absence of overt neurological disturbance at the time of presentation.
Stability of the Bayley II Scales of Infant Development in a sample of low‐risk and high‐risk infants
Authors: Harris Susan R , Megens Antoinette M , Backman Catherine L , Hayes Virginia E
Published: July 2010

The aim of this study was to examine the stability of the second edition of the Bayley Scales of Infant Development (Bayley II) by correlating Bayley II scores during the first year of life with Bayley II scores at approximately 18 months of age. Bayley II Mental and Motor Scales were administered to 119 infants (69 males, 50 females) during their first year of life; mean age for low‐risk group 7 months (SD 3.01) and mean age for high‐risk group 7.8 months (SD 2.46). A second set of Bayley II scores was collected on 104 of the infants at 17 to 22 months of age; mean age for low‐risk group 18.5 months (SD 1.07) and mean age for high‐risk group 18.9 months (SD 1.11). Mean time interval between the two assessments was 11.5 months for the low‐risk group and 11.15 months for the high‐risk group. Stability of the scores over time was assessed. Correlations for the Bayley II Mental Developmental Index and Psychomotor Developmental Index between administrations during the first and second years of life were r=0.49 (p<0.001) and r=0.48 (p<0.001) respectively. We conclude that approximately 23 to 24% of the variance in the infants' later Bayley II scores could be explained by the earlier scores. This is one of only two studies to examine the stability of Bayley II over time. Replication studies are needed to evaluate the consistency of these findings across other samples of infants.
Intellectual decline in children with moyamoya and sickle cell anaemia
Authors: Hogan A M , Kirkham F J , Isaacs E B , Wade A M , Vargha‐Khadem F
Published: July 2010

Intelligence is reported to decline after onset of moyamoya in Japanese populations, but there is less evidence for this in Western populations where the condition may be secondary to stroke and sickle cell anaemia (SCA). Preoperative longitudinal IQ data were obtained from 15 children (seven males, eight females) who developed moyamoya syndrome (MMS) following a stroke (six with SCA, nine without SCA), and 19 controls (10 males, nine females; nine healthy control participants, 10 with SCA). At baseline assessment (Time 1) median age of patients was 7 years 6 months (range 3y 7mo to 12y 5mo); median age of controls was 6 years 3 months (range 4y to 11y 6mo). At follow‐up (Time 2), ages were 11 years 8 months (range 3y 7m o to 12y 5mo) and 12 years 8 months (range 6y 4mo to 16y 8mo) in patients and controls respectively. Median duration of follow‐up for the patient group was 3 years (range 7 to 10y) and in controls, 4 years 1 month (range 1 to 10y). In children with SCA, Verbal and Performance IQs (VIQ and PIQ) were significantly lower than in controls at Time 1; there was an additional independent statistically significant reduction in PIQ associated with MMS (p= 0.004). Although there were further significant reductions in IQ by the second assessment for patients with MMS compared with controls, IQ did not differ significantly between groups with and without SCA. While the reduction in IQ attributed to SCA does not appear to become more marked with increasing age, the difference between those with and without MMS is associated with increasing effect over time.
Aquatic exercise for children with cerebral palsy
Authors: Kelly Michelle , Darrah Johanna
Published: July 2010

Exercise for children with cerebral palsy (CP) is gaining popularity among pediatric physical therapists as an intervention choice. Exercise in water appeals to children with CP because of the unique quality of buoyancy of water that reduces joint loading and impact, and decreases the negative influences of poor balance and poor postural control. In this paper, research of land‐based exercise and aquatic exercise for children with CP is reviewed. Clinically relevant considerations for aquatic exercise programming for children with CP are discussed.
Seeing the mind: considerations on visual metaphors of the mind in Western thought (16th–18th centuries)
Authors: Albano Caterina
Published: July 2010

Throughout the centuries, in Western culture, scientists, philosophers, and artists have been fascinated by the working of the mind. They have attempted to translate this into visual models that are able to provide tangible references to otherwise abstract concepts. These metaphors are deeply rooted in culture and their significance encompasses ideas which shape and characterize different epochs. With a consideration of visual models of the mind developed in Western thought during the 16th and 18th centuries, this article aims to provide an overview of some of the most significant metaphors developed to illustrate the working of the mind and highlight their broader cultural significance. Generally, models used to describe the brain, and consequently to conceptualize the mind, match the most recent technical achievements or important cultural developments. They illustrate the processes through which material reality and the self are perceived and represented. This article shows how these models betray broader cultural concerns and testify to the zeitgeist of an epoch.
Comparison of risk factors for cerebral palsy in twins and singletons
Authors: Bonellie SR , Currie D , Chalmers J
Published: July 2010

The aim of this study was to investigate the difference in rates of cerebral palsy (CP) between singletons and twins by considering factors that may be predictive of CP. Data were taken from the Scottish Register of Children with a Motor Deficit of Central Origin and the Scottish Morbidity Record series. All children born in Scotland between 1984 and 1990 inclusive comprised the cohort. There were 646 children with CP (370 males, 276 females) of whom 57 were from twin pregnancies. Prevalence of CP was higher in twins than in singletons. Also, for singleton and twin births, the prevalence of CP was higher for infants who had low birth weight for gestational age (GA), were preterm, and who were male. Prevalence of CP by GA followed a different pattern for twins than for singletons, being lower for twins in the middle range of GAs than for singletons. After allowing for GA and birth weight, twins appeared to be at increased risk for CP compared with singletons. The type of CP in singletons and twins also differed with 64.9% of twins having spastic bilateral CP compared with 48.5% for singletons. The aetiology of CP in twins and singletons may differ.
Functional therapy for children with cerebral palsy: an ecological approach
Authors: Ahl Lena Ekström , Johansson Eva , Granat Tina , Carlberg Eva Brogren
Published: July 2010

The aim of this pilot study was to evaluate functional training for children with cerebral palsy (CP). The outcomes examined were goal‐achievement, gross motor function, performance of everyday activities, caregiver assistance, parents’perception of family‐centredness, and preschool assistants’feeling of competence in the care of the children. The outcome measures used were goal attainment scaling, Gross Motor Function Measure, Pediatric Evaluation of Disability Inventory (functional skills and caregiver assistance scales), Measure of Processes of Care, and a questionnaire. The intervention was carried out in the context of daily life settings, i.e. in an ecological framework. Fourteen children (three females, 11 males; age range 1y 6mo to 6y) with diplegia and tetraplegia, classified at Gross Motor Function Classification System levels II‐V, participated in the five‐month intervention. Frequency of training towards a specific goal varied between twice a day and 23 times a day, depending on the type of goal. Seventy‐seven per cent of goals were fully attained. Gross motor function and performance of daily activities, including social function, improved significantly. A decrease in caregiver assistance was noted in relation to the children's mobility. Parents’perception of family‐centredness improved in all domains. Furthermore, the children's preschool assistants felt more competent in their care of the children.
Sexuality in children and adolescents with disabilities
Authors: Murphy Nancy , Young Paul C
Published: July 2010

This review presents a discussion of the sexual development of children and adolescents with disabilities, described in the framework of body structure and function, individual activities, and societal perspectives presented in the World Health Organization's International Classification of Functioning, Disability and Health. Issues of sexual development, gynecological care and contraception, sexual functioning, societal barriers, sexual victimization, and sexuality education are presented. Overall, adolescents with disabilities seem to be participating in sexual relationships without adequate knowledge and skills to keep them healthy, safe, and satisfied. Although their sexual development may be hindered both by functional limitations and by intentional or unintentional societal barriers, the formal and informal opportunities for teenagers with disabilities to develop into sexually expressive and fulfilled persons do exist. Health care providers are urged to increase their awareness of this unmet need and to implement strategies that promote the physical, emotional, social, and psychosexual independence of children, teenagers, and young adults with disabilities.
Electrical stimulation in cerebral palsy: a randomized controlled trial
Authors: Kerr Claire , McDowell Brona , Cosgrove Aidan , Walsh Deirdre , Bradbury Ian , McDonough Suzanne
Published: July 2010

A randomized placebo‐controlled trial was carried out to investigate the efficacy of neuromuscular electrical stimulation (NMES) and threshold electrical stimulation (TES) in strengthening the quadriceps muscles of both legs in children with cerebral palsy (CP). Sixty children (38 males, 22 females; mean age 11y [SD 3y 6mo]; age range 5–16y) were randomized to one of the following groups: NMES (n=18), TES (n=20), or placebo (n=22). Clinical presentations were diplegia (n=55), quadriplegia (n=1), dystonia (n=1), ataxia (n=1), and non‐classifiable CP (n=2). Thirty‐four children walked unaided, 17 used posterior walkers, six used crutches, and the remaining three used sticks for mobility. Peak torque of the left and right quadriceps muscles, gross motor function, and impact of disability were assessed at baseline and end of treatment (16wks), and at a 6‐week follow‐up visit. No statistically significant difference was demonstrated between NMES or TES versus placebo for strength or function. Statistically significant differences were observed between NMES and TES versus placebo for impact of disability at the end of treatment, but only between TES and placebo at the 6‐week follow‐up. In conclusion, further evidence is required to show whether NMES and/or TES may be useful as an adjunct to therapy in ambulatory children with diplegia who find resistive strengthening programmes difficult.
The impact of sex and subtypes on cognitive and psychosocial aspects of ADHD
Authors: Gross‐Tsur Varda , Goldzweig Gil , Landau Yael E , Berger Itai , Shmueli Dorit , Shalev Ruth S
Published: July 2010

We compared the effect of sex and attention‐deficit‐ hyperactivity disorder (ADHD) subtyping in groups of females and males. One hundred and one females with ADHD (mean age 10y 4mo [SD 2y 8mo]; range 5y‐18y) were classified according to subtype by Diagnostic and Statistical Manual of Mental Disorders (4th edn) criteria (inattentive [ADHD‐I]; combined [ADHD‐C]) and balanced by subtype to 101 males (mean age 10y 5mo [SD 2y 9mo]; range 5y 4mo‐17y 6mo). All children underwent IQ and reading assessment, and 109 underwent the continuous performance task (Test Of Variables of Attention [TOVA]). Parents completed the Conners’Abbreviated Rating Scale (ABRS), the Child Behavior Checklist (CBCL), learning disability* questionnaires, and reported use and efficacy of methylphenidate. Teachers completed the Swanson, Kotkin, Agler, M‐Flynn, and Pelham (SKAMP) rating scale. Sex differences were found only on the CBCL; females were more impaired on the attention (p < 0.001) and somatization (p=0.028) subscales but not for IQ, other questionnaires, TOVA scores, methylphenidate treatment, or demographics. Females with ADHD‐C, but not males, had significantly higher T‐scores than females with ADHD‐I on social, attention, delinquent, and aggressive behaviours. Regardless of sex, children with ADHD‐C had higher scores on all CBCL subscales (p=0.047), ABRS (p < 0.001), and SKAMP (p=0.03) than children with ADHD‐I. The results support the supposition that ADHD in females is the same disorder as in males. ADHD subtyping was the important determinant of ADHD core symptoms; females with ADHD were found to have significant risk of psychopathology.
Sudden death in Lesch‐Nyhan disease
Authors: Kostadinov Neychev Vladimir , Jinnah H A
Published: July 2010

To increase awareness of sudden and unexpected death in Lesch‐Nyhan disease (LND) and to explore its potential causes, we report the anteceding clinical features and laboratory evaluations of five males with LND who ultimately experienced sudden and unexpected death, along with three additional males who suffered serious respiratory events during life. The ages of patients ranged from 2 to 45 years. The cause of sudden death in LND appears to have a respiratory rather than a cardiogenic basis. All cases cannot be linked readily with a single respiratory process. Instead, different respiratory processes appear to operate in different cases. These may include aspiration, laryngospasm, central apnea, cyanotic breath‐holding spells, and high cervical spine damage. Better recognition of these processes will help to guide appropriate workup and management that could include chest imaging, endoscopy of the airways, polysomnography, electroencephalogram, and brain and/or spine imaging.
Synergistic muscle activation during maximum voluntary contractions in children with and without spastic cerebral palsy
Authors: Tedroff Kristina , Knutson Loretta M , Soderberg Gary L
Published: July 2010

We examined muscle recruitment patterns in children with cerebral palsy (CP) and comparison children without CP under conditions of maximum voluntary contractions. Three groups of children participated in the study: (1) 12 children with diplegic CP (eight males, four females; age range 4–10y, mean age 7y [SD 2y 4mo]); (2) six children with hemiplegic CP (four males, two females; age range 5–10y, mean age 7y 4mo [SD 2y]); and (3) 13 comparison children with normal motor function (seven males, six females; age range 4–11y, mean age 7y 2mo, [SD 2y]). The children with CP were classified according to the Gross Motor Function Classification System: eight were Level I, five were Level II, four were Level III, and one was Level I V. Surface electromyography was recorded from four proximal and distal lower extremity (LE) muscles. Children with CP more frequently activated a muscle other than the intended prime mover first, compared with the comparison children, especially when the prime mover was a distal muscle. For example, during ankle plantar flexion, when the lateral gastrocnemius muscle was the prime mover, children with hemiplegia showed preactivation of the tibialis anterior muscle and children with diplegia showed medial hamstring coactivation. In conclusion, children with CP showed considerable differences to the comparison children in how LE muscles were voluntarily activated. Greater understanding of muscle recruitment patterns under a variety of tasks may provide new directions for motor control retraining or other forms of intervention.
Initial development and validation of the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD)
Authors: Narayanan Unni G , Fehlings Darcy , Weir Shannon , Knights Shannon , Kiran Sonia , Campbell Kent
Published: July 2010

This paper reports the development and validation of a disease‐specific measure of health status and well‐being of children with severe cerebral palsy (CP). The Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) was constructed from recommendations from caregivers, healthcare providers, and review of other measures. Items spanning six domains are rated on an ordinal scale. Standardized scores (0–100) are reported for each domain and in total. Primary caregivers (n=77) of 45 males and 32 females between 5 and 18 years of age (mean age 13y 5mo [SD 3y 4mo]) with CP, categorized by the Gross Motor Function Classification System (GMFCS) level, completed the CPCHILD. Caregivers of children with severe CP (GMFCS Levels IV and V) also completed a second administration of the CPCHILD 2 weeks after the first. The mean CPCHILD score for children with severe CP was 56.2 (SD 15.7; range 24–93). The mean CPCHILD scores for children in GMFCS Levels I to V were 22.0, 38.2, 23.0, 44.5, and 59.3 respectively (p < 0.001). Reliability was tested in 41/52 caregivers who reported no change in health status between the two administrations of the CPCHILD. The intraclass correlation coefficient was 0.94 (95% confidence interval 0.90–0.97). The CPCHILD seems to be a reliable and valid measure of caregivers’perspectives on the health status, functional limitations, and well‐being of these children.
Gait function in newly diagnosed children with autism: cerebellar and basal ganglia related motor disorder
Authors: Rinehart Nicole J , Tonge Bruce J , Iansek Robert , McGinley Jenny , Brereton Avril V , Enticott Peter G , Bradshaw John L
Published: July 2010

We investigated gait in newly diagnosed children with autism. From our previous study with 6‐ to 14‐year‐olds, we hypothesized that motor symptoms indicative of basal ganglia and cerebellar dysfunction would appear across the developmental trajectory of autism. Two groups were recruited: children with autism (eight males, three females; mean age 5y 10mo [SD 9mo]; range 4y 4mo‐6y 9mo) and a comparison group of typically developing children (eight males, three females; mean age5y 9mo [SD 1y 1mo]; range 4y 3mo‐7y 2mo). The GAITRite Walkway was used to gather data from average gait and intra‐walk measurements. Experienced physiotherapists analyzed gait qualitatively. Groups were matched according to age, height, weight, and IQ; although not statistically significant, IQ was lower in the group with autism. Spatiotemporal gait data for children with autism were compatible with findings from patients with cerebellar ataxia: specifically, greater difficulty walking along a straight line, and the coexistence of variable stride length and duration. Children with autism were also less coordinated and rated as more variable and inconsistent (i.e. reduced smoothness) relative to the comparison group. Postural abnormalities in the head and trunk suggest additional involvement of the fronto‐striatal basal ganglia region. Abnormal gait features are stable across key developmental periods and are, therefore, promising for use in clinical screening for autism.
Ethnic differences in achievement of developmental milestones by 9 months of age: the Millennium Cohort Study
Authors: Kelly Yvonne , Sacker Amanda , Schoon Ingrid , Nazroo James
Published: July 2010

This paper examines ethnic differences in the attainment of developmental milestones during infancy and possible explanations for observed differences are investigated. Data from the first survey of the Millennium Cohort Study (n=15 994; 8212 males, 7782 females; mean age 9.2mo [SD 0.5]) were examined. We found that Black Caribbean (odds ratio [OR]=0.23, 95% confidence interval [CI]=0.11–0.48), Black African (OR 0.31, 95% CI 0.18–0.55), and Indian (OR 0.55, 95% CI 0.33–0.93) infants were less likely to show delay in the attainment of gross motor milestones compared with White infants after adjustment for a range of explanatory variables. Pakistani and Bangladeshi infants were more likely to have delays in fine motor development (OR 1.69, 95% CI 1.21–2.35 and OR 2.17, 95% CI 1.17–4.02 respectively) and communicative gestures (OR 4.19, 95% CI 1.47–11.94 and OR 7.64, 95% CI 3.96–14.76 respectively), but these differences were explained by socioeconomic factors and markers of cultural tradition. In conclusion, unexplained ethnic differences were seen in the attainment of gross motor milestones, with Indian, Black Caribbean, and Black African children less likely to be delayed (in adjusted models). Increased likelihood of fine motor and communicative gesture delays among Pakistani and Bangladeshi infants, that disappear when socioeconomic factors are taken into account, point to the need to address deprivation among these groups to reduce the likelihood of developmental delay and possible longer term behavioural and cognitive problems and consequent opportunities throughout life.
Vision in children with hydrocephalus
Authors: Andersson Susann , Persson Eva‐Karin , CO Eva Aring , Lindquist Barbro , Dutton Gordon N , Hellström Ann
Published: July 2010

Hydrocephalus in children has many aetiologies, and can cause multiple ophthalmic and visual disorders. This study sets out to detect and quantify visual and visuoperceptual dysfunction in children who have received surgical treatment for hydrocephalus with and without myelomeningocele, and to relate the results to the associated diagnoses and results from a comparison group. Seventy‐five school‐aged children (41 males, 34 females) with surgically‐treated hydrocephalus and 140 comparison children (76 males, 64 females) matched for age and sex underwent comprehensive ophthalmologic examination. Median age at examination was 9 years and 4 months (range 7y 4mo‐ 12y 10mo). Visual function deficits were identified in 83% (62/75) of the children with hydrocephalus. Visual impairment (binocular visual acuity <0.3) was found in 15% (11/73; comparison group 0%) but in none with myelomeningocele. Strabismus was found in 69% (51/74; comparison group 4% [5/140], p<0.001), and refractive errors were found in 67% (47/70; comparison group 20% [28/140], p<0.001). Cognitive visual dysfunction was identified in 59% (38/64; comparison group 3% [4/140], p<0.001). These disorders were identified in various combinations and comprised impaired ability to plan movement through depth (e.g. going down a stair), impaired simultaneous perception, impaired perception of movement, impaired orientation, and (least frequently) impaired recognition. In this study, children with hydrocephalus associated with myelomeningocele were least commonly affected. Visual disorders were most frequent in those with epilepsy, cerebral palsy, and/or cognitive disability.
Lower motor neuron involvement in perisylvian polymicrogyria
Authors: Clark Maria , Pitt Matthew , R Neville Brian G
Published: July 2010

Congenital bilateral perisylvian polymicrogyria syndrome (CBPS) has a cerebral cortical localization and its phenotype was thought to be purely central. This study of seven children with CBPS (five males, two females; mean age 5y [SD 3y 6mo]; range 1mo‐11y 10mo) documents electrophysiological evidence of lower motor neuron involvement in association with congenital contractures (limb or jaw) in six of the seven children studied. This is not an expected association and does not conform to the traditional lesional classification system of the cerebral palsies. Possible pathogenic mechanisms are discussed but this association of upper and lower motor neuron involvement is likely to be a previously unsuspected part of a genetic or other pathogenic sequence.
Unilateral reverse ocular bobbing caused by tuberous sclerosis
Authors: Karakas Hakki Muammer , Yakinci Cengiz , Kemal Ahmet , Kahraman Bayram
Published: July 2010

A female aged 12 months with developmental delay and left‐sided reverse ocular bobbing (rapid deviation of the eye upward and a slow return to the horizontal position) was observed. At birth, an upper left gingival mass, pathologically diagnosed as a benign granular cell tumour, was removed. On computed tomography (CT), left middle cerebral pedincular and midpontine lesions were seen. Magnetic resonance imaging revealed additional white matter hamartomas, corticosubcortical tubers, and subependymal nodules. The patient was re‐examined at 36 months. Her general developmental quotient was equivalent to 23 months of age. Third cranial nerve functions and auditory brainstem response were normal. Her abnormal eye movements were still present. Reverse bobbing is usually observed in patients who are unconscious and who have significant pontine pathology and disruption of the reticular formation. This case is the first tuberous sclerosis‐related ocular bobbing case to our knowledge and is interesting as the causative lesion was relatively mild, and ocular horizontal movements were preserved.
Learning disabilities in children with neurofibromatosis type 1: subtypes, cognitive profile, and attention‐deficit‐ hyperactivity disorder
Authors: Hyman Shelley L , Arthur E , North Kathryn N
Published: July 2010

Cognitive deficits are the most common complication in children with neurofibromatosis type 1 (NF1), and academic achievement is broadly affected. There is a lack of consensus in the literature regarding the frequency of general and specific learning disabilities, which seems to be related to the lack of a consensus on diagnostic criteria. The present study examined the frequency of specific learning disabilities (SLDs) in NF1, using an intellect‐achievement discrepancy for diagnosis, as well as general learning difficulty associated with a lowering of general intellectual ability. The cohort consisted of 81 children with NF1 (43 males, 38 females; mean age 11y 6mo [SD 2y 4mo]; range 8y–16y 9mo) and 49 comparison children (20 males, 29 females; mean age 12y [SD 2y 6mo]; range 8y 2mo–16y 8mo). Problems with academic achievement were present in 52% of children with NF1; however, only 20% of the children with NF1 were diagnosed with an SLD (32% had more general learning problems). Only males with NF1 were at significant risk for SLD, and Verbal IQ<Performance IQ discrepancies were predictive of the presence of an SLD. There was a significant comorbidity of literacy‐based learning disabilities and attention‐deficit‐hyperactivity disorder. We were able to define three subtypes of children with NF1 having distinct cognitive profiles, each with important implications for assessment and remediation.