A study of the psychosocial functioning of young adults with a history of learning disability (LD) in childhood is reported. The design was a non-clinic community follow-up investigation of a cohort of children who had received special education, the sample frame for which was a birth-period cohort survey. Participants were 149 young adults (89 males and 60 females derived from a survey of the 33800 children born in the Cambridge Health District between 1967 and 1973) at the stage of transition to adult services (age 18–22y), whose measured IQ scores in childhood were <80, and who had received special education during school years. Most of the young adults were living at home (n=108) and many were in full-time employment (independent employment n=41, sheltered employment n=20), this survey having been carried out in an area of high employment. A strong correlation was found between the child IQ score and subsequent adult Vineland Scale Score. Greater efforts should be made to detect and assess LD and its attendant problems in children in order to plan future care and transition to adulthood, especially for those with more severe disabilities.

Everyday functioning is described in 95 children with cerebral palsy (CP; 55 males and 40 females; mean age 58 months, SD 18 months, range 25 to 87 months) using the three scales of the Pediatric Evaluation of Disability Inventory (PEDI): Functional Skills, Caregiver Assistance, and Modifications of the Environment. Types of CP in the children were hemiplegia, (n=19), spastic/ataxic diplegia, (n=44), spastic quadriplegia, (n=16), dyskinetic, (n=9), and mixed (n=7). Symptoms were grouped by severity according to the Gross Motor Function Classification System (GMFCS): 23% were classified at level I, 21% at level II, 10% at level III, 23% at level IV, and 23% level V. A large variability in functioning in mobility, self-care, and social function was seen because of the heterogeneity of children with CP. Limitations in achievement of activities, need for assistance, and use of assistive devices increased progressively with GMFCS level. Furthermore, these children differed to a great extent from the normative sample of the PEDI. Stepwise regression analysis showed that the GMFCS was a good predictor of everyday functioning with age and learning problems as significantly contributing factors, particularly in self-care and social function. In conclusion, the three scales of the PEDI represent different but strongly related aspects of everyday functioning in young children with CP.

Two-hundred infants of <30 weeks gestational age were included in a randomized double-blind controlled trial to study the effect of thyroxine administration on neurodevelopmental outcome in very preterm children. The infants were given either a fixed dose of thyroxine (8 µg/kg birthweight/day) or placebo for the first 6 weeks of life. This paper evaluates the effect of thyroxine administration on behavioural outcome at the age of 2 years. More externalizing, especially destructive, behaviours were found in the group given thyroxine than in the placebo group. This difference was more pronounced in boys and in children born after 27 weeks' gestation. The thyroxine-treated children with behavioural problems had lower plasma-free thyroxine levels than the thyroxine-treated children without behavioural problems. This finding suggests that the presence of more behavioural problems in the group given thyroxine was not an immediate consequence of the treatment.

To test whether the presence of indolyl-3-acryloylglycine (IAG) is associated with autism, we analyzed urine from population-based, blinded cohorts. All children in York, UK with autism spectrum disorders (ASDs), diagnosed using ICD-10 research diagnostic criteria, were invited to participate. Fifty-six children on the autism spectrum (mean age 9y 8mo, SD3y 8mo; 79% male) agreed to participate, as did 155 children without ASDs (mean age 10y, SD3y 2mo; 54% male) in mainstream and special schools (56 of whom were age-, sex-, and school-matched to children with ASDs). IAG was found at similar levels in the urine of all children, whether IAG concentrations or IAG:creatinine ratios were compared. There was no significant difference between the ASD and the comparison group, and no difference between children at mainstream schools and those at special schools. There is no association between presence of IAG in urine and autism; therefore, it is unlikely to be of help either diagnostically or as a basis for recommending therapeutic intervention with dietary manipulation. The significance of the presence of IAG in urine has yet to be determined.

This study evaluated the effect of specific postural support on motor behaviour of infants with and without minor neurological dysfunction (MND). The following questions were addressed: (1) Does application of supportive pillows affect the time during which the infant exhibits general movements (GMs) or specific movements? We defined specific movements as movements of specific parts of the body that occur in a specific, recognizable way. (2) Does application of pillows improve the quality of GMs or the repertoire of specific movements? (3) Is a pillow effect affected by neurological condition? Forty healthy, term infants (16 males, 24 females; mean age 3.04m [SD 1.24mo], range 1–5mo) participated in the study. Twenty were neurologically normal and 20 had MND. Spontaneous motor behaviour in a supine position was video-recorded for 180 seconds in four conditions applied in random order: support by a pillow in (1) the shoulder region, (2) the pelvic region, (3) the shoulder and pelvic region, or (4) no pillow support. Two independent assessors evaluated the quality of GMs. The other movement parameters were assessed with a computer program. Duration of movements was determined and a variation index, consisting of the number of different specific movements in a condition, was calculated. The presence of pillows did not affect the time spent in GMs, specific movements, or GM quality in either group. In neurologically normal infants the shoulder pillow with or without pelvic pillow induced an increase in the variation index (p<0.01), whereas in the infants with MND, all pillow conditions resulted in a substantial increase of the movement repertoire (p<0.001). Our results demonstrate that specific postural support promotes variation in motor behaviour of young infants. This is particularly true for infants with MND.

The purpose of the present study was to determine the long-term outcome of 76 children (40 females and 36 males) diagnosed and treated with modern antituberculosis drugs. The median age of the children on admission was 29.5 months and on follow-up 9 years. Antituberculosis therapy consisted of daily isoniazid (20mg/kg), rifampicin (20mg/kg), ethionamide (20mg/kg), and pyrazinamide (40mg/kg) for 6 months. Twenty-three children received daily prednisone (2–4mg/kg) for the first month of treatment. Raised intracranial pressure was actively monitored and treated. Patients with non-communicating hydrocephalus received ventriculo-peritoneal shunts shortly after admission while communicating hydrocephalus was treated with oral acetazolamide (100mg/kg/day) and furosemide (1mg/kg/day) in 3–4 divided doses. Communicating hydrocephalus that did not respond to this regimen within the first month of treatment also underwent ventriculo-peritoneal shunting. Only 20% of children were functionally completely normal at follow-up. Main areas of functional deficit were cognitive impairment (80%), poor scholastic progress (43%), and emotional disturbance (40%). Twenty-five per cent of children had evidence of motor impairment, but all could walk and only 5 of 76 children (6% of total) were unable to run. One child was blind but no child had sensori-neural deafness. It was concluded that these disabilities in children from mainly deprived socioeconomic backgrounds have serious implications for their future social, academic, and career prospects. A high index of suspicion of TBM in high tuberculosis incidence communities will help prevent the morbidity documented in this study.

The new antiepileptic drugs introduced over the last decade provide a welcome increase in the therapeutic options available for the 25% of children with epilepsy who remain refractory to traditional therapy. In the mid 1980s, vigabatrin (VGB) was the first of these to be made available in clinical practice. In 1997, the visual field deficits reported in association with VGB prompted a review of its place in the management of epilepsy. We provide an overview of the uses of VGB and a discussion of the difficulties which currently affect our clinical practice.

Understanding patterns of gyrification in neurogenetic disorders helps to uncover the neurodevelopmental etiology underlying behavioral phenotypes. This is particularly true in Williams syndrome (WS), a condition caused by de novo deletion of approximately 1 to 2Mb in the 7q11.23 region. Individuals with WS characteristically possess an unusual dissociation between deficits in visual–spatial ability and relative preservations in language, music, and social drive. A preliminary postmortem study reported anomalous gyri and sulci in individuals with WS. The present study examined gyrification patterns in 17 participants with WS (10 females, 7 males; mean age 28 years 11 months, SD 8 years 6 months) and 17 age- and sex-matched typically developing control participants (mean age 29 years 1 month, SD 8 years 1 month) using new automated techniques in MRI. Significantly increased cortical gyrification was found globally with abnormalities being more marked in the right parietal (p=0.0227), right occipital (p=0.0249), and left frontal (p=0.0086) regions. These results suggest that one or more genes in the 7q11.23 region are involved during the critical period when cortical folding occurs, and may be related to the hypothesized dorsal/ventral dissociation in this condition.

This study examined the impact of severity and type of condition and family resources on quality of life in children with spina bifida and hydrocephalus. A national UK sample of children aged between 6 and 13 years with spina bifida (n=62), hydrocephalus (n=354), and spina bifida plus hydrocephalus (n=128) were identified via the register of the Association for Spina Bifida and Hydrocephalus (ASBAH). Parents completed standardized measures of Child Health Related Quality Of Life (CQOL), family needs survey (FNS), and caregiving self-efficacy scale (CSES) as well as questions on children's health and physical ability. Results showed there were no significant differences in the overall quality of life for the three disability conditions. The overall CQOL was over 1 SD lower for those with spina bifida and hydrocephalus than for children with other physical conditions. Sex and age were not related to overall CQOL. Specific aspects of CQOL differentiated the three groups. Children with spina bifida had poorer CQOL scores on self-care, continence, and mobility/activities whilst those with hydrocephalus had poorer scores on school activities, worries, sight, and communication. Severity of condition and family resources, i.e. CSES and FNS, predicted 32% of the variance in CQOL. Associations were also found between overall CQOL and problems discernible at birth as well as epilepsy. Other factors, including those related to shunts, were not significantly related to CQOL. It was concluded that hydrocephalus is just as great a threat to CQOL as spina bifida. Beyond the general effect of condition severity on CQOL, family resources (as measured by the CSES and FNS) represent an additional influence on CQOL.

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.

Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are females with severe cognitive and physical disabilities. All of the cases reported in the literature have had early-onset seizures. Most cases of Aicardi syndrome exhibit very slow development, even when seizures are eventually controlled, and the cases with a relatively favourable outcome are associated with low intelligence quotient levels. A relationship between chorioretinal changes or severity of the agenesis of the corpus callosum and prognosis of Aicardi syndrome has been claimed, but few data are available about the clinical features that can predict clinical outcome. We describe a case of Aicardi syndrome in a female aged 24 months. Magnetic resonance imaging showed complete agenesis of the corpus callosum and ophthalmoscopy revealed chorioretinal lacunae in the left eye. She had never had seizures and her psychomotor and language development were normal for age.

Episodic dyscontrol syndrome may affect both children and adults. Those who treat children with neurological disorders are likely to see patients referred for investigation of outbursts of aggressive behaviour, especially if episodes are possibly of an epileptic nature. This may occasionally be the case, but in some children it seems that their threshold to such behaviour is abnormally low, and this may also result from defects in the biochemistry or structure of the brain. There is nothing calculated about this behaviour, and it cannot be explained by justifiable anger, such as the result of frustration. Boys are affected more frequently than girls, and the syndrome is more often seen among urban than rural populations. Such outbursts can occur in isolation, but also after a series of minor episodes such as the crying of a younger sibling for nights on end. The outbursts may be very brief or last several hours.

The case is presented of a female infant with a distal deletion of 8p (8p23.1→pter) whose development was monitored over a 5-year period from 12 months of age. Although previous literature has suggested that 8p deletion is associated with mild to moderate intellectual disability, the child reported here has normal intelligence. Despite initial delays in gross motor and language skills, cognitive development (assessed with the Bayley Scales of Infant Development) and intellectual ability (measured on the Stanford-Binet Intelligence Scale) were within average range. It is argued that the small number of previous case reports may have created a misleading impression of intellectual development in individuals with distal deletions of 8p.

Prevalence of drooling in children with cerebral palsy (CP) and its severity across dental age (i.e. children with primary, mixed, and permanent dentitions) was investigated. One hundred and sixty children and adolescents (91 males, 69 females; mean age 10 years 10 months, SD 4 years 2 months; range 4 to 18 years) with CP who attended special schools were involved in this study. Sixty eight per cent of participants had spastic CP with the majority (45%) diagnosed as having quadriplegia. Presence or absence of drooling was determined by direct observation of the participants. Other data, such as age, sex, learning disability, and type of CP were collected using questionnaires. Results showed 93 of 160 children (58%) with CP had a drooling condition and of these 53 (33%) had severe drooling. It was found that the degree of drooling decreased as the child's dental age increased. Prevalence of drooling in children with primary dentition was found to be 75% as compared with 43% of those with permanent dentition, although this difference was not statistically significant. It was concluded that any invasive treatment to reduce drooling should, perhaps, be postponed until the child's oromusculature has matured.

Over recent decades, cardiology has evolved into a highly evidence-based specialty. Guided by the results of large, multicentre, randomized trials of patients with common conditions, cardiologists are usually in the happy position of knowing how best to treat patients, once they have been diagnosed with various conditions or are deemed at risk of developing them. This has led to the implementation of standardized approaches to treatment. The progressive uniformity of care has improved outcomes – preserving quality of life and prolonging survival. Arguably, however, cardiologists are now less comfortable in situations of clinical uncertainty, when evidence is inadequate or does not exist to guide decision making. This is well illustrated by the difficulty experienced by many patients in obtaining appropriate care for the cardiac aspects of a neuromuscular disorder. From a patient's perspective, cardiologists seem unfamiliar with their condition and, usually, to favour therapeutic nihilism.

Classically, acquired occlusion of the recurrent artery of Heubner (RAH) results in hemiparesis with faciobrachial predominance. Infarction in the territory of the RAH represents a specific stroke syndrome not yet described in infancy with a range of motor and functional manifestations. An infant is described with apparent congenital infarction of the recurrent artery of Heubner. The child had prominent involvement of the contralateral upper extremity with athetosis. Neuroimaging changes were evident in the vascular territory classically attributed to the RAH. The clinician should suspect congenital RAH infarction in those infants with congenital upper-extremity athetosis.

Data are presented on 17 children who received extracorporeal membrane oxygenation (ECMO) in the neonatal period for persistent pulmonary hypertension (PPHN). These children are being followed as part of a larger program of follow-up research on children who have been treated for PPHN with several treatment methods. On intelligence testing at ages 5 to 8 years, these 17 children had unusual patterns of results. A higher-than-predicted percentage of the ECMO survivors had discrepancies between their Verbal and Performance IQ and a much-higher-than-predicted percentage had areas of unusual strength or weakness on their IQ subtest scores. Also, there was a significant correlation between the amount of time a child received ECMO and the child's Performance IQ: the longer the child received ECMO, the higher the Performance IQ. While findings of unusual weaknesses or deficits on intelligence testing at school age in children who have been severely ill in the neonatal period are not unusual, findings of high scores and areas of strength are not easily explained, particularly when these findings seem to relate to an invasive treatment like ECMO. Similar findings have been reported in two other small studies, which suggest that the impact of ECMO on the developing infant brain may not be purely detrimental.

This report describes a case of multisystem failure in a 5-year-old boy who was being treated with carbamazepine for a seizure disorder. Carbamazepine hypersensitivity was diagnosed from the combination of the clinical constellation and the results of the patient's peripheral blood monocyte proliferation responses to both carbamazepine and a panel of other medications.