Children with brain injuries that are apparently similar in etiology, severity, and clinical management have striking differences in outcomes. There is increasing evidence that genetic factors may influence brain injury severity and outcome. Apolipoprotein E (apoE) is a lipid transport protein abundantly present in cells in the brain. In addition to transporting lipids, apoE has other functions necessary for cell maintenance and repair. The gene for apoE exists in three alleles (ε2, ε3, and ε4). Strittmatter and colleagues found APOE ε4 to be an important predisposing factor for the development of Alzheimer's disease. Subsequently, the ε4 allele was shown to convey vulnerability to worse outcome after traumatic brain injury and other neurological insults in adults.

The spectrum of language regression in childhood is incompletely understood. To describe the features of this disorder more fully, we reviewed the records of 196 consecutive children (143 males and 53 females) with language regression or perceived plateau evaluated between 1988 and 1994 by a child neurologist. Mean age at regression was 21.2 months and the mean interval to referral was 34.8 months. A trigger for the regression was identified in 74 of the children (38%) and was associated with a more rapid regression. Mean age at follow-up was 64 months (SD 55). Seventy per cent of the children became nonverbal, and 75% were cognitively impaired. Language regression was associated with a more global autistic regression in 93% of children. There was a history of seizures in 15% of the children. Some recovery occurred in 61% but only one child recovered fully. Improvement was more likely in the 49% who were entirely developmentally normal before the regression. We conclude that language regression in childhood is a serious disorder with significant long-term morbidity.

Clean intermittent catheterization (CIC) is the mainstay of management in neuropathic vesicourethral dysfunction, both to improve continence and, more importantly, to preserve renal function. We looked at the effects of this procedure on children, adolescents, and their families. In particular, we wished to see if there were any differences between those who successfully catheterized and those who did not. Forty families were enrolled into the study. Ages of children and adolescents (23 females, 17 males) ranged from 1 to 20 years. Most participants (n=31) had spina bifida. Other causes of bladder dysfunction included transverse myelitis, spinal cord injury, and spinal neuroblastoma. Parents were assessed using the Effects of Handicap on Parents semi-structured interview, the Socioemotional Functioning Interview, and a semi-structured interview, specifically designed for the study, which looked at family characteristics and experience related to diagnosis and catheterization. In addition, the Rutter Parental ‘A’ Scale Questionnaire was used to screen for emotional and behavioural disorders in the child. Results showed that CIC by carer or self- catheterization itself did not cause major emotional and behavioural problems but the bladder problem may act as a focus that puts considerable strain family relationships. Although most parents disliked CIC they complied with the suggested management. It is important that all those involved understand the aims of management and success can be achieved by combined input from medical, psychological, and specialist nursing staff. The problem is lifelong and continued support from a multidisciplinary team is essential.

Revisiting and updating the definition and classification of cerebral palsy (CP) is not just an academic task for the developmental paediatrician and neurologist but an exercise aimed at providing a framework for multidisciplinary management by all professionals and care providers involved in the care of children with developmental disabilities.

The incidence of spina bifida has dropped significantly in many countries over the last several years. This change has occurred secondary to the use of folic acid, and prenatal diagnosis with termination of pregnancy. The overall care of children with spina bifida has also changed substantially in the past 30 years. These changes have occurred in all specialties: neurosurgery, urology, orthopaedics, rehabilitation, and orthotics.

Attentional neglect of left space is one of the most striking acquired neurological disorders of adulthood. Recent evidence indicates a link between left spatial neglect and general right-hemisphere impairments in sustained attention and alertness. Poor sustained attention and alertness is also a central feature of other disorders, particularly childhood attention-deficit–hyperactivity disorder (ADHD). Here we present the case of a 7-year-old male showing that frank neglect can be present in children with sustained attention problems without a clear aetiological event, or obvious structural brain abnormalities as indicated by a normal MRI. Experimental amelioration of the neglect through left-hand movement and externally alerting stimulation by uninformative sounds further suggest close similarities to the adult disorder. We suggest that such distortions of spatial attention may be more common in childhood than previously thought.

Pediatric hemifacial spasm can be a sign of an intracranial tumor. We examined two females, ages 2 and 6 years, who presented with hemifacial spasm as an early sign of accommodative esotropia. Initial ophthalmologic examination disclosed high hyperopia without detectable esotropia. Both children developed an intermittent esotropia over the following month. In the first child, the hemifacial spasm resolved concurrent with the onset of amblyopia. In the second child, spectacle correction produced immediate cessation of the spasms. In both children, squinting to avoid diplopia produced an overflow facial movement that manifested as hemifacial spasm. Accommodative esotropia should be considered in the differential diagnosis of pediatric hemifacial spasm.

Neuropsychological findings of individuals with dyslexia (n=24) from a large, three-generation Finnish family are presented. We have previously performed whole genome linkage scanning in this family and found that dyslexia in this kindred segregates with a single locus in the pericentromeric area of chromosome 3. Those included in the analyses were carefully evaluated for general cognitive ability, reading and spelling skills, and reading-related neurocognitive skills. The neurocognitive type of dyslexia segregating in this family consisted of deficits in phonological awareness, verbal short-term memory, and rapid naming. Severe dyslexia also seemed to be connected with a general language difficulty and was most common in the eldest generation.

As previously described, the subject of consanguineous marriage became a source of major scientific and public interest in the UK and the USA from the mid-19th century onwards. Much of this interest centred on the claimed deleterious outcomes of consanguinity, although there were also scientists and clinicians who denied any adverse effects and instead argued that inbreeding offered major biological advantages. A large majority of studies have indicated that early mortality is increased in the progeny of consanguineous unions when compared with children born to unrelated parents. However, most of these studies failed to control for the potential effects of sociodemographic variables. Where such control was attempted, as in extensive post-World War II surveys conducted in Japan, the adverse biological effects of consanguinity were still present but were much less obvious, and similar findings have been reported in more recent studies in the Indian sub-continent.

To test the hypothesis that characteristics of perinatal infection are associated with long-term cognitive limitations among preterm infants, we analyzed data from 294 infants (142 females, 152 males) [les ]1500g birthweight and <37 completed weeks of gestation who were examined at age 9 years. We identified 47 children (20 females, 27 males) who had a non-verbal Kaufman Assessment Battery for Children (K-ABC) scale standard value below 70, i.e. more than 2 SDs below the age-adjusted mean. The 247 children (122 females, 125 males) with a score [ges ]70 served as control participants. Maternal nationality and education, and low gestational age were significantly associated with a K-ABC non-verbal standard value <70. Both neonatal brain damage (intraventricular hemorrhage) and long-term sequelae (cerebral palsy [CP], diagnosed at age 6 years) were significantly associated with a below-normal non-verbal K-ABC score. Maternal fever at birth was present in five cases (11%) and eight controls (3%; odds ratio 3.6, 95% confidence interval 1.1 to 11.4). Clinical chorioamnionitis and preterm labor and/or premature rupture of membranes (as opposed to toxemia and other initiators of preterm delivery) were also more common among cases than control participants. When adjusting for potential confounders such as gestational age, maternal education and nationality, and CP, the risk estimate for maternal fever remained unchanged (3.8, 0.97 to 14.6). We conclude that perinatal infection might indeed contribute to an increased risk for long-term cognitive deficits in preterm infants.

An 8-year-old girl is described who presented with seizures. These were subsequently found to be pseudoseizures, with no EEG changes. They were provoked by pain from cervical ribs. This cause of pain-provoked pseudoseizures has not previously been described.

Most studies of impaired hand function in children with hemiplegic cerebral palsy (CP) have focused on either the involved or the non-involved extremity in isolation. Coordination of the involved and non-involved hand during bimanual tasks in these children is not well understood. The present study examined bimanual coordination using a drawer-opening task under speed and hand constraints in 10 children with hemiplegic CP (5 males and 5 females, mean age 13y 5mo, range 8y to 16y) and 10 age-matched right-handed developing typically children (6 males and 4 females, mean age 13y 1mo). Children were asked to reach forward and open a drawer with one hand and then activate a light switch inside the drawer with the contralateral hand. The role of the two hands (open drawer and activate switch) and speed (self-paced vs fast-as-possible) were varied. The children with hemiplegic CP were slower (p<0.001) and less coordinated in this task, with reduced movement overlap of the two hands (p<0.001) and sequential completion of the two movement objectives (p<0.001). Moreover, the hand used for each task subcomponent affected task performance for the children with hemiplegic CP (p<0.05). Interestingly, faster speed facilitated better bimanual coordination for the children with hemiplegic CP (p<0.001). Results highlight the importance of movement constraints on task performance and suggest that movement speed might facilitate better bimanual coordination.

Jose Prats Viñas and coworkers' (p 419) report in this issue is of great interest, first because it raises the problem of the definition and limits of Aicardi syndrome but also, accepting as I do that it belongs to the syndrome, it suggests a much wider spectrum of expression.

The study aim was to quantify melatonin-associated improvement in sleep by means of a parent-completed sleep diary during routine outpatient activity. An investigation into sleep disturbance was made at neurology outpatient appointments. Those parents who identified a problem were asked to complete a sleep diary, after which treatment was initiated. The first week of the diary was completed before treatment, the second when established on the maximum dose of melatonin required. Forty-nine patients (26 males, 23 females) aged from one to 13 years, were treated between 1997 and 1998: 28 of these returned interpretable diaries. In a further 18 patients, an assessment could be made of the usefulness of the treatment. Patients were fairly typical of those attending a tertiary centre, the most common primary diagnosis being epilepsy (n=26). Only seven patients were visually impaired. Of the 46 patients who were assessed, 34 showed an improvement. No adverse effects were attributed to the treatment.

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe developmental delay, seizures, and hypertonia. Further clinical evaluation using both the diagnostic criteria for DS and the Jackson checklist of 25 signs was inconsistent with the diagnosis for DS. Blood karyotype revealed: 46,XX,+21,dic(21;21)(p11.2;p11.2). Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation. Both parents had normal karyotypes. Chromosome and FISH analyses were performed on skin fibroblasts. These studies revealed mosaicism for a translocation trisomy 21 cell line as well as a second cell line consisting of one normal chromosome 21 and a ring chromosome 21 derived from translocation 21q21q which appeared to have a deletion of the critical region for DS involving the distal portion of the the long arm of chromosome 21. The chromosome findings illustrate an atypical phenotype in the spectrum of mosaic DS and suggest possible mechanisms for the variability of the phenotype. It also emphasizes the importance of evaluating other tissues for mosaicism when presented with atypical clinical findings.