A baby girl born by elective lower segment caesarean section was found to have left-sided focal seizures at 48 hours after birth. Her mother had previously had a neonatal death at 26 weeks' gestation and another child born at 32 weeks' gestation had a congenital right hemiplegia with a left middle cerebral artery infarct on CT scan. The mother had raised anticardiolipin IgG antibodies at the time of delivery of her second child, with no thrombotic symptoms. Therefore, during this pregnancy, she had been treated with low molecular weight heparin and aspirin. The baby's mother had raised IgG and IgM anticardiolipin antibodies and the baby had IgG anticardiolipin antibodies at the upper range of normal 4 days after delivery. The seizures were controlled with phenobarbitone and phenytoin. CT and MRI scans showed evidence of cerebral ischaemia. A repeat MRI scan at 4 months of age was normal, anticonvulsants were discontinued, and her latest neurological examination at 5 months was normal.

Down syndrome (DS) is the most common inherited cause of learning disability, and affected individuals are more prone to infections, leukaemia, congenital heart disease and other anomalies, thyroid dysfunction, early senescence and Alzheimer's disease. These complications create a heavy burden for carers of individuals with DS and the social and health services. Consequently, any intervention that ameliorates some of these complications will have a significant impact on the quality of life of individuals with DS and their carers. However, before investing resources in interventions, it is important to ascertain their scientific validity.

To test the validity of a new computerized task to assess children's receptive vocabulary, event-related potentials (ERPs) were recorded from 56 typically developing children ranging in age from 5 to 12 years. This ERP-computerized vocabulary task does not require a child to give a verbal or motor (i.e. pointing) response. Single pictures, from an existing standardized test of receptive vocabulary, were presented on a computer screen and simultaneously named either correctly (congruent) or incorrectly (incongruent) via a computer. As predicted, the N400 amplitude was found to be significantly higher to the incongruent picture–word pair (i.e. the child knew it was an incorrect pairing) than to the congruent picture–word pair (i.e. the child knew it was a correct pairing). This effect was found for each of the four age groups (5 to 6 years, 7 to 8 years, 9 to 10 years, 11 to 12 years). This task accurately estimated current receptive vocabulary in typically developing children. Although still in the development stage, it may eventually serve as an adjunct to a thorough neurological and neurodevelopmental assessment of some children presenting with moderate to severe cerebral palsy.

Developmental coordination disorder (DCD) occurs in a small but significant proportion of children who present with impaired body–eye coordination and show poor acquisition of motor skills. This study investigated the visual–proprioceptive mapping ability of children with DCD from a small selected group, with particular reference to the use of vision in matching tasks. The children with DCD in this study were significantly poorer than control children on all matching tasks. They seemed to have particular difficulty in cross-modal judgements that required the use of visual information to guide proprioceptive judgements of limb position. A distinction is drawn between tasks that can be achieved purely through sensory matching and those that require body-centred spatial judgements, suggesting that it is the latter that posits a particular difficulty for children with DCD.

Fourteen children aged 4 to 14 years with hip subluxation due to cerebral palsy (CP) were considered for a trial in a lying hip abduction system (Jenx Dreama, Jenx Limited, Sheffield, UK). Baseline data were recorded for 6 months, then assessments of the system were made for one year at 6 and 12 months. Assessments consisted of hip radiographs in the standard position, a parental questionnaire, and a sleep chart, which was completed by parents every Friday night during the trial. Three children could not enter the trial because of general sleep problems, and three could not complete it because they were unable to sleep with the system. One further child withdrew from the study just before the end because of unacceptable deterioration for which surgery was needed. The remaining seven children completed the trial and there was an overall improvement in rate of hip migration percentage on the right from 7% per annum in the baseline period to –4% with the system (p<0.05). On the left, changes were –3% and 0% respectively (ns). Average sleep at night changed from 9 to 9.4 hours (ns) and wakenings/night from 1 to 1.3 (ns). On the parental questionnaire, there were significant improvements noted with the system in position for seating and sleeping, ease of hip abduction for washing, and with pain reduction. This pilot study supports the use of this type of lying system but further studies are needed to establish the acceptability and efficacy of these systems, particularly in children aged 2 to 5 years when irreversible bony deformities of the hip tend to occur.

To determine the outcome at 1 year of neonatal encephalopathy (NE) and to estimate the possible contribution of birth asphyxia to childhood disability in a low-income South Asian country, a prospective cohort study was undertaken in the principal maternity hospital of Kathmandu, where over 50% of local women give birth. From a total population cohort of 21609 live births, 131 term infants with NE (after exclusion of cases associated with neonatal sepsis, congenital malformations, or primary hypoglycaemia) and 208 term control infants were recruited. Of these, 102 (78%) infants with NE and 106 (51%) control infants were followed-up to 1 year of age. Outcome measures were death or neurodevelopmental impairment, graded as major, minor or none. Of the 131 term infants with NE, 83 were graded with moderate or severe NE according to conventional definition. By 1 year of age, 45 (44%) of the infants with NE had died, 18 (18%) had severe impairments, and two (2%) had minor impairments; four (4%) of the control subjects had died and two (2%) had minor impairments. Most deaths in subjects with NE occurred in the early neonatal period; NE carried no excess risk of death beyond the neonatal period. Of the 18 children with major impairment, 14 (78%) had spastic tetraplegic cerebral palsy and eight (44%) had multiple impairments. Compared with the control group the relative risk of death by 1 year was 5 (95% CI 1.4 to 15) for mild NE, 8 (95% CI 3 to 23) for moderate, and 26 (95% CI 10 to 67) for severe. Twenty-seven of 38 (71%) infants with moderate NE either died or survived with major impairment. An upper estimate for the prevalence of major neuroimpairment at 1 year attributable to birth asphyxia is 1 per 1000 live births in this population.

Learning disability and cerebral palsy are often related to factors present before birth. We report three patients (two with schizencephaly, one with unilateral cerebellar agenesis) in whom the timing of an insult to the foetus was known. In the first case, the mother had a trauma at 16 weeks of pregnancy and schizencephaly was discovered in the male infant associated with a left hemiplegia. In the second child, amniocentesis performed at 16 weeks into pregnancy may have been responsible for the same cortical anomaly. In the third case, sequential foetal echographies clearly demonstrated that an apparent unilateral cerebellar agenesis was related to an haemorrhagic event secondary to cerebellar trauma that occurred at 19 weeks of pregnancy. It is suggested that these brain malformations are related to an ischemic mechanism or a traumatic event in foetal life.

In children with nocturnal enuresis, a higher rate of minor neurological dysfunction has been found. The aim of this study was to assess timed performance (a measure of motor performance speed) and associated movements using a standardized and reliable instrument. The motor function of 37 children with nocturnal enuresis (27 males, 10 females; mean age 10y 7mo [SD 1y 10mo]; age range 8y–14y 8mo) and 40 comparison children without enuresis (17 males, 23 females; mean age 10y 7mo [SD 1y 6mo]; age range 8y–14y 8mo) was assessed using the Zurich Neuromotor Assessment. Children with nocturnal enuresis showed a slower motor performance than comparison children, particularly for repetitive hand and finger movements. This study provides evidence for a maturational deficit in motor performance in children with nocturnal enuresis. In addition to a maturational deficit of the brainstem, it is proposed that there is a possible maturational deficit of the motor cortex circuitry and related cortical areas in children with nocturnal enuresis.

Morphological properties of skeletal muscle were compared between wrist flexors and extensors within the same children (n=8, six females, two males; age range 4 to 9y, median age 7y)with wrist muscle imbalance secondary to spastic cerebral palsy (CP). Five patients had hemiplegic CP, two diplegic CP, and one patient had tetraplegic CP. Muscle biopsies were taken during either tendon transfer or tendon lengthening procedures. Analyses included distribution of muscle fibre types, fibre sizes, and expression of developmental myosins. Extensor fibre area was significantly greater than flexor fibre area for type 2A fibres and type 2B fibres but not for type 1 fibres. Coefficient of variation (CV) of fibre size for all three fibre types was greater for flexors compared with extensors. The greatest CV was observed for the type 2A fibres in flexors (39.5 [3.6%]). A wide variation was observed for expression of developmental myosin with the magnitude of the expression being greater, but not statistically significant, in flexors compared with extensors (5.4/mm2 vs 0.53/mm2). These data demonstrate that significant secondary myopathy of wrist flexor muscles results from CP.

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.

The notion of talent is an elusive concept but there appears to be sound evidence that both savants and experts share important qualities. Brief descriptive accounts of the talents displayed by savants are presented, along with a discussion of intelligence, implicit learning, and the organization of knowledge. Cognitive theories helpful in understanding exceptional abilities in people with autism are also discussed. It is concluded that a certain cognitive style, i.e. weak coherence, may predispose individuals to develop their talents. Although it would be interesting to speculate that some great artists and mathematicians show a similar degree of obsessive preoccupation and a cognitive style reminiscent of autistic spectrum disorder, presumably as a strategic mechanism, there is, as yet, little research on the subject.

This study aimed to: classify a cohort of children and adolescents with myotonic dystrophy (dystrophia myotonica: DM) into congenital and childhood onset forms; estimate CTG expansion size; and quantify muscle strength, contractures, and motor function in children with DM and compare results with those of controls. Participants were clinically examined, medical records were reviewed, and isometric muscle strength, contractures, and motor function were measured. Participants were: 42 children with DM (18 females, 24 males; mean age 8y 9mo [SD 4y 7mo], range 10mo to 17y) and 42 age- and sex-matched, healthy controls. Children with DM were divided into three groups: severe congenital (n=13), mild congenital (n=15), and childhood (n=14). Children with childhood DM were significantly weaker than controls (wrist and ankle dorsiflexors [p=0.0044, p=0.0044 respectively]; hip abductors and flexors [p=0.0464, p=0.0217]; and knee flexors and extensors: [p=0.0382, p=0.0033]). Children with mild congenital DM were significantly weaker than controls in all assessed muscle groups. Contractures and skeletal deformities were more frequent at time of investigation than at birth, suggesting that foot and spine deformities in particular increase over time. Motor function score was significantly lower for children with DM than for controls. Children with severe congenital DM had the lowest motor function, with correlation between motor function and size of CTG repeat (ρ=–0.743). Children found jumping, heel standing, and head lifting the most difficult items to perform but few had difficulty walking, running, or stair climbing. DM in children is a heterogeneous disorder with a wide spectrum of muscle involvement, and owing to increased risk of contractures and skeletal deformities, regular follow-ups are recommended.

Neurophysiological studies of sleep have increasingly focused on underlying dynamic processes. This would appear particularly relevant to the developmental aspects of sleep. Involvement of sleep-dependent mechanisms in emotional processing, as well as perceptual-sensory, perceptual-motor, and cognitive learning, mostly studied in adults, may play major roles in development. Rapid eye movement (REM) sleep, which is generated by complex neuronal interactions within the pontine reticular formation, and non-REM sleep, which arises from activities in the thalamocortical network, are specifically implicated in different aspects of long-term memory systems. They evolve from previous physiological and behavioural states which can be traced back to the fetal period. Further studies are needed to clearly identify functions reflected by hallmarks of sleep stages, such as spindles and K complexes. A better understanding of the maturational aspects of sleep should provide important insights into physiological development. Assessment approaches taking dynamic characteristics of sleep into account may contribute to the design of better targeted management of sleep-related problems in neurodevelopmental conditions.

The aim of this study was to evaluate the incidence of visual function abnormalities in children with infantile hemiplegia, and the relation between visual abnormalities and type of lesion, as shown by brain MRI. Visual function was tested (grating acuity, visual field size, binocular optokinetic nystagmus [OKN], and ocular movements) in a group of 47 children with congenital or early acquired hemiplegic cerebral palsy (mean age 25 months, range 8 to 52 months). The cohort was subdivided into four groups according to MRI findings: brain malformations (n=5), abnormalities of the periventricular white matter (n=20), cortical–subcortical lesions (n=16), and non-progressive postnatal brain injuries (n=6). More than 80% of the children showed abnormal results in at least one visual test: acuity was the least impaired function, while visual field and OKN were abnormal in more than 50% of the cohort. No specific correlation could be identified between the type and timing of the lesions and visual function. Unlike adults with stroke, visual field defects were not always related to contralateral damage in the optic radiations or in the visual cortex. These results indicate that visual abnormalities are common in children with hemiplegia, and that they cannot always be predicted by MRI. All children with hemiplegia need a detailed assessment of visual function.

The linguistic abilities of children born preterm at 32 weeks' gestation or earlier at Kuopio University Hospital during 1984 to 1986 were evaluated during successive phases of a prospective study. The study protocol included the Rapid Automatic Naming test and Wechsler Intelligence Scale for Children – Revised at 9 years of age and a modified Stroop Color-Word test and the Wechsler Intelligence Scale – Revised at the age of 16 years. Fifty-one children born preterm (26 males, 25 females) and 51 age-matched and sex-matched term controls (26 males, 25 females) were studied at the age of 9 years. At the age of 16 years, 40 children born preterm (19 males, 21 females) and 31 term controls (14 males, 17 females) participated in the study. The children born preterm scored significantly lower in two naming tasks than the controls at the age of 9 years. However, there was no difference between the study groups in naming skills at the age of 16 years or in verbal IQ in either study phase. Maternal education level was not associated with naming skills. Thus, the consequences of preterm birth seem to be minor in relation to linguistic skills during school age and diminish by adolescence.

Functional MRI (fMRI) of the visual cortex was evaluated in 42 sedated 18-month-old infants (mean corrected age; 31 males, 11 females) with or without periventricular leukomalacia (PVL). Data from 14 infants could not be evaluated because of movement artefacts. Ten of the remaining 28 infants showed no significant fMRI response upon visual stimulation. In 18 infants, a significant signal change upon stimulation was found in the visual cortex: in 17 a signal decrease and in one a signal increase. Functional changes were located mainly in the anterior part of the visual cortex. Seven of the 28 infants had normal MRI and 21 showed variable occipital PVL. An fMRI response was equally frequent in infants without PVL (4 of 7 infants) and with PVL (14 of 21 infants). In conclusion, fMRI was shown to be feasible in sedated infants. No correlation was found between functional activation and the presence or absence of occipital PVL. Type of fMRI response (signal decrease) and localization (anterior part of the visual cortex) are different from those seen in adults, probably reflecting a combination of sedation effects and immaturity of the visual system. At present, fMRI is a highly promising research tool; its clinical relevance still has to be established.

The aim of this retrospective study was to ascertain whether physiological derangement and potential secondary brain insult from raised intracranial pressure (ICP) or reduced cerebral perfusion pressure (CPP) in non-accidental head injury (NAHI) influences outcome. Any child who had a diagnosis of NAHI and had ICP monitoring or measurements during the acute illness was entered in the study. Seventeen children with an average age 5.1 months (range 1 to 20 months) were identified. Details of the acute encephalopathy, lowest mean arterial blood pressure (MAP), mean of maximum ICP measured, lowest CPP, and neurodevelopmental outcome at follow up were obtained from the hospital case notes. Seshia's (1994) outcome classification scale was used. The lowest CPP was very significantly related to outcome (P=0.0047, τ= −0.544). Mean of maximum ICP did not correlate with outcome. The lowest MAP was significantly related to outcome (P=0.039). It was concluded that the degree of secondary brain insult from reduced CPP influences outcome.

As the largest interhemispheric commissure in the brain, the corpus callosum is of particular interest in disorders that may preferentially affect white matter development such as Williams syndrome (WS). Individuals with WS possess a remarkable array of neurobehavioral peaks and valleys, including deficits in visuospatial ability, mathematics, and attention, but with relative preservation of language and affect. Our study measured the corpus callosum and its primary subdivisions using high-resolution MRI in 20 individuals with WS (13 females and seven males; mean age 28.5, SD 8.3 years; range 19 to 44 years) and 20 age- and sex-matched control participants (mean age 28.5, SD 8.2 years; range 19 to 48 years). Total midsagittal corpus callosum area was reduced (F=4.5, p=0.04, df=36) in the WS population. The area of the splenium (F=12.4, p=0.001, df=36) and isthmus (F=9.4, p=0.004, df=36) were disproportionately reduced in WS beyond the absolute reduction of the entire corpus callosum. These reductions are in concordance with other neuroanatomical findings of decreased parietooccipital volumes as well as the observed visuospatial problems associated with WS.

Children with infantile nephropathic cystinosis have evidence of visuospatial and arithmetic deficits on a background of normal intellectual and verbal skills. This study aimed to define further their behavioral phenotype. The Achenbach Child Behavior Checklist was completed by parents of: 64 children and adolescents with cystinosis (33 females, 31 males; mean age 8y 8mo, range 4 to 16y, SD 2y 11mo); 101 healthy controls (47 females, 54 males; mean age 8y 4mo, range 4 to 16y, SD2y 11mo); 21 children and adolescents with cystic fibrosis (CF), termed chronic-disease controls (9 females, 12 males; mean age 11y 3mo, age range 4 to 17y, SD3y 5mo). Compared with healthy controls, individuals with cystinosis had evidence of a significantly higher incidence of behavioral problems, including social problems, somatic complaints, and attention problems. Compared with the chronic-disease control group, the cystinosis group differed only on the Social Problems scale, with 22% of participants with cystinosis scoring in the ‘at risk’ range whereas no participant with CF received an elevated score on this scale. We conclude that children and adolescents with cystinosis have evidence of a significant incidence of social difficulties compared with individuals with another chronic illness and healthy participants. The combination of visuospatial problems, difficulty with arithmetic, attention problems, and social difficulties seen in the cystinosis group constitutes a behavioral phenotype of this genetic disorder. This cluster of cognitive and behavioral symptoms is also seen in the nonverbal learning disabilities syndrome, and suggests a possible early difference in brain development in children with cystinosis compared with children who do not share this genetic disorder.