Patients with congenital varicella syndrome (CVS) typically present with clinical symptoms consisting of skin lesions, neurological defects, eye diseases, and/or limb hypoplasia. In rare cases, isolated manifestations in the brain or eye have been reported. The varicella-zoster virus (VZV), as the causative agent of CVS, could only be detected in a few infants with CVS. In addition, there is little in the literature on antiviral treatment of infants born with signs of CVS. We report a case of CVS in a male infant who presented with generalized clonic cerebral seizures at age 4 months. An endogenous intracerebral viral reactivation following intrauterine VZV infection was assumed. After the diagnosis was confirmed virologically, acyclovir was administered intravenously for 10 days and afterwards orally for 3 weeks. This antiviral treatment was aimed at preventing progression of the disease. We concluded from this case that infants with intrauterine VZV infection can suffer intracerebral VZV reactivations that require antiviral treatment.

The ketogenic diet has been in use since the early 1920s as a treatment for epilepsy. It is a high fat, low protein, and low carbohydrate diet which was developed to mimic the effects of fasting, which has been found to decrease seizure activity. The diet produces ketosis, as does fasting, but the role of ketosis in seizure control is not known. These days, the diet is generally used to treat seizures which do not respond to drug therapy.

Diagnostic labels describing specific diagnoses can be valuable in analyzing a child's problems and may be critical in securing medical and educational services, ‘but sometimes we forget that there is actually but one child with one dysfunctional brain’ (Rapin I, unpublished). Co-occurring developmental difficulties require an integrated approach in both terminology and care. The term ‘neurodevelopmental disorder’, as well as encompassing major impairments such as the cerebral palsies, embraces overlapping problems with speech and language, motor-perceptive function, behaviour, and learning.

The aim of this study was to evaluate anaerobic muscle performance in children after long-term recovery from Guillain-Barré syndrome (GBS). Participants were recruited from all children and adolescents with GBS admitted to The Hospital for Sick Children, University of Toronto, Canada, between 1988 and 1995. We assessed 17 children (nine males, eight females; mean age at GBS diagnosis 7 years 11 months, SD 4 years 2 months; mean age at testing 14 years 1 month) more than two years after acute GBS. Participants completed the Wingate anaerobic test to evaluate mean and peak muscle power. For mean arm muscle power (mean 47.5% [SD 17.4%] of normal), only two participants were in the normal range. For mean leg muscle power (mean 83% [SD 28.3%] of normal), 15 participants were in the normal range. For arm peak power (mean 92.6% [SD 20.7%] of normal), 12 participants were in the normal range. For leg peak power (mean 116.3% of normal, SD 15.8%), all participants were in the normal range. Detailed manual muscle testing with the modified Medical Research Council scale was done on 34 muscle groups. Data were pooled to give a mean arm and leg muscle strength score (9.7, SD 0.30 and 9.4, SD 0.50 respectively). Pearson's correlations of muscle endurance with arm and leg strength were not significant. Children with GBS have excellent long-term recovery of peak muscle power. Muscle endurance, measured by mean muscle power, was normal in the legs but markedly low in the arms. Pediatric rehabilitation programs after GBS should specifically target endurance of arm muscles.

Any good paediatrician will point out to the parents of a child with cerebral palsy (CP) that their child's brain damage is fixed and cannot be altered. This is not being over pessimistic but simply honest. The paediatrician then suggests a variety of treatments/therapies aimed at maximizing the child's potential. However, it is understandable if parents still go on to seek treatments which they hope can alter their child's condition. Such treatments include conductive education, cranial osteopathy, and hyperbaric oxygen (HBO) – to name a few. This article seeks to review available information on the use of HBO in the treatment of children with CP.

A 21-year-old male presented with occipital lobes that were extensively damaged by bilateral infarcts present at birth. The absence of the striate cortex was confirmed with anatomic and functional MRI and high-resolution EEG. His cortical visual impairment was severe, but he retained a remarkable ability to see fast-moving stimuli. Horizontal optokinetic nystagmus could be elicited from either eye. Resolution acuity was close to normal providing the patient was allowed to move his head and eyes. The direction of motion in random-dot patterns could be discriminated with perfect accuracy at speeds above 2 deg/s, and the patient reported that he could ‘see’ the motion at fast but not at slow speeds. This conscious residual vision for motion is known as Riddoch's phenomenon, but it has never been reported in the complete absence of the striate cortex. Functional neuroimaging revealed activation that was outside the motion-responsive regions of the extrastriate cortex. This case demonstrates remarkable plasticity in the human visual system and may have implications for understanding the functional organization of the motion pathways.

Autism is a neurodevelopmental disorder with strong genetic influences. Clinical experience and limited empirical evidence support the view that autism may be associated with aberrant interhemispheric information transfer. This empirical controlled study examined whether, at neuropsychological testing, children with autism showed problems with interhemispheric information transfer. The study included auditory, visual, and motor measures covering information transfer within, as well as across, modalities. Thirty children (24 males, 6 females; mean age 12 years 8 months, SD 2 years 8 months; range 9 years 5 months to 17 years 5 months) without learning disability but with autism spectrum disorders were compared with 30 children from a mainstream school matched for age, sex, and IQ>75. Children with autism spectrum disorder performed significantly worse than the comparison group on most of the tests (p=0.02 for auditory perception and attention, p=0.005 for visual perception, p=0.0001 for motor control, p=0.04 for tactile perception). Results support the notion that aberrant interhemispheric transfer may be involved in the pathogenesis or clinical course of autism. The findings were not accounted for by lower IQ in the group with autism.

Salla disease, a free sialic acid storage disorder, is one of the 36 currently known disorders in Finland that form the Finnish disease heritage. Salla disease leads to learning disability with a wide clinical variation. Two main categories of the disease have been classified: a conventional subtype and a severe subtype with more severe defects. We present detailed neurocognitive profiles of 41 Finnish patients with Salla disease (19 females, 22 males; age range 11mo to 63y, median 19y). The neurocognitive development of patients with Salla disease was assessed by psychological and neuropsychological testing. All patients were also examined by a paediatric neurologist and a speech therapist. The characteristic cognitive profile consisted of a lower non-verbal performance (mean developmental age 13mo) compared with linguistic skills (mean developmental age 17mo). In particular, spatial and visual-constructive impairments were typical of these patients. Tactile and visual discrimination of forms was poor. Tasks demanding hand–eye coordination, maintenance of visual attention, and those requiring short-term visual memory and executive skills were performed better. Receptive language skills were notably better compared with expressive speech. The patients' interactive and non-verbal communication skills were quite strong. Another typical pattern with Salla disease was severe motor disability. After the second decade of life, the decline in these skills was more pronounced than patients' cognitive deterioration. Our results indicate that even though there is a considerable variation in the clinical findings of patients with Salla disease, the characteristic neurocognitive profile of the disease can be outlined.

Neonatal cerebral white matter echolucencies predict visual resolution acuity deficits in very-low-birthweight (VLBW) infants. We examined maternal sociodemographic, lifestyle, intrapartum, infant birth/perinatal, and ocular motor/refractive characteristics to determine whether they accounted for this association in infants who were tested once between postnatal age 25 and 56 weeks (corrected for gestational age at birth). Cranial ultrasound scans were read by consensus to identify echolucency in a population of VLBW infants with no known ocular abnormalities. Visual resolution acuity was measured with the Acuity Card Procedure (ACP) in 14 infants with echolucency and compared with that of 81 VLBW infants born in the same hospitals with normal ultrasound scans. In time-oriented logistic regression models, echolucency remained a consistent predictor of abnormal visual resolution acuity after adjustment for covariates in three developmental periods (pre-, peri-, and postnatal). Odds ratios ranged from 19.3 (95% confidence interval, 4.5 to 82.2; p=0.001) to 10.4 (95% confidence interval, 1.3 to 81.9; p=0.03). Reduced visual resolution acuity in VLBW infants appears to be due to cerebral white matter damage.

This paper discusses some of the issues that, once resolved, may help child neurologists and pediatric neuroepidemiologists in their mutual understanding and collaborative efforts. Emphasis is placed on the all-too-frequent assumption that evidence-based medicine only covers the application of results from randomized double-blind trials in practice. A considerable proportion of child neurology concerns clinical diagnosis and etiological inference. Therefore, evidence-based child neurology might benefit not only from the therapeutic, but also from the diagnostic and etiological components of epidemiology.

To investigate whether the decrease in mean birthweight of the smallest infants surviving with a very low birthweight (VLBW) in the past two decades is associated with an increase in intellectual deficit rates, we compared the results obtained in two different follow-up studies: one included a cohort of children of VLBW (<1500g; n=102, 52% male) born in the early 1980s; the other included a cohort of children of extremely low birthweight (ELBW; <1000g; n=183, 46% male) born in the mid-1990s. Intellectual development was evaluated in both cohorts. McCarthy Scales of Children's Abilities were used in the cohort from the early 1980s; Wechsler's Preschool and Primary Scale of Intelligence – Revised was used in the cohort from the mid-1990s. The children were assessed at age 4–5 years, and a control group was included for each of the two studies. Mean scores in the measures of intelligence found at the assessment were recalculated to standard deviation scores from the two control groups. We found no difference in the standard deviation scores between the two cohorts despite the mean birthweight being 353g (p<0.001) lower in the cohort from the mid-1990s, and the overall survival rate of infants of VLBW having increased. Our results suggest that the improved survival of the smallest babies in the 1980s and 1990s has been achieved without an increase in the intellectual deficit in the surviving children.

Sudden unexpected death in epilepsy (SUDEP) has been defined as occurring in an individual suffering from epilepsy (characterized by recurrent seizures), who dies unexpectedly while in a reasonable state of health, and with death happening suddenly (in minutes), and during normal activities and benign circumstances. Also there should be no obvious medical cause, and death should not be the result of a seizure or status epilepticus, such as inhalation of vomit.

This report describes the case history of two male siblings with sensorineural hearing loss and an enlarged vestibular aqueduct (EVA). Sibling 1 presented with a history of intermittent self-limiting ataxia and hearing loss at the age of 25 months and sibling 2 presented with a similar history at the age of 18 months. MRI showed an enlarged endolymphatic duct and sac bilaterally in both children. Perchlorate discharge tests were positive in both infants leading to a diagnosis of Pendred syndrome. A number of conditions associated with EVA are discussed with a view to devising management strategies.

The conditions subsumed under the term ‘autistic spectrum disorder’ (ASD) vary in severity at the time of initial presentation; they also vary in expression over time. Unfortunately, the most widely adopted reference standard for the diagnosis of ASD, the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), does not quantify severity of expression of ASD at the time of initial diagnosis, nor can it be used to document longitudinal changes in symptom expression, other than to state in a ‘yes/no’ fashion that an individual might no longer meet criteria for diagnosis. In clinical practice, measures intended to quantify the severity of ASD, such as the Childhood Autism Rating Scale, the Gilliam Autism Rating Scale, or the Autism Diagnostic Observation Schedule (ADOS), are typically given once, rather than serially (unlike IQ or academic achievement testing, which are commonly given every 2 or 3 years, if not annually). Finally, the diagnosis of ASD is generally made without reference to the affected individual's level of general intelligence. Most scales for assessing ASD do not take the participants' chronological age or level of general development into account, although there are exceptions. These clinical practices constrain our thinking about ASD. Here I present a schema for thinking about ASD along three dimensions: (1) severity of atypical symptoms, (2) level of general cognitive ability or comorbid mental retardation, and (3) age. This schema is not meant as a diagnostic instrument in and of itself. Rather, it is intended as a frame of reference within which to locate the scores of existing instruments, and as a way of conceptualizing ASD. I suggest that this frame of reference will lead to improved clinical care for individuals of all ages with ASD, and might point the way toward further researchable questions in areas pertaining to the etiology, educational management, and epidemiology of autism and related disorders.

We describe the coexistence of Asperger and Tourette syndromes (AS and TS) caused by discrete hypoxic–ischaemic necrosis of the midbrain, infrathalamic and thalamic nuclei, and striatum in an adolescent male with positive family history for tics and obsessive–compulsive disorder. Behavioural ratings, cognitive tests, and volumetric measurements of the basal ganglia were performed in the patient and five other individuals with AS–TS unassociated with MRI lesions. Cognitive deficits in attentional, executive, and visual–spatial domains were found both in the patient and control AS–TS group, though deficits were more severe in the former. MRI showed reduction of the left basal ganglia volume compared with the right in the patient, whereas the control group showed reduction of right basal ganglia volume compared with the left. It is suggested that individuals with a genetic predisposition to TS may develop AS and TS after involvement of midbrain and related components of basal ganglia-thalamocortical circuits normally implicated in the integration of emotional, cognitive, and motor functions.