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.

In a previous study we developed a cognitive assessment battery called the Pediatric Powered Wheelchair Screening Test (PPWST) to help clinicians determine a young child's readiness to drive a powered wheelchair. The current multicenter study sought to determine: (1) whether the PPWST is appropriate for use in a population of children with cerebral palsy (CP) who use joysticks to drive their wheelchair; (2) whether two additional factors (symbolic representation and coping) would increase the predictive power of the PPWST for this group and for children with orthopedic or neuromuscular disabilities only; and (3) whether the test was appropriate for children with severe motor impairments who use switches to control their wheelchair. Fifty children (27 males, 23 females) between the ages of 21 months and 6 years 11 months participated. Twenty-six children (mean age 4 years 4 months, SD 15 months) had triplegic or tetraplegic CP and 24 children (mean age 27 months, SD 5 months) had orthopedic or neuromuscular disabilities. Sixty-nine per cent of children had some limited form of mobility (such as rolling or scooting) but none was a functional ambulator. Each child was assessed with the PPWST and with measures of symbolic representation and coping. After six wheelchair training sessions, driving ability was scored. The PPWST was found to be predictive of functional driving ability for children with CP who used a joystick to control their wheelchair. Assessment of symbolic representation skills increased the predictive power for this group but not for children with orthopedic or neuromuscular disabilities; coping scores did not increase the predictive power for either group. The PPWST accounted for only 20% of the variance in overall driving skills for switch users, and thus is not yet considered an adequate screening device for this group. The PPWST is designed to help clinicians determine whether a child currently has the specific cognitive skills found to be related to powered wheelchair driving but is not intended to be used exclusively to determine whether or not a child is ultimately a candidate for powered mobility.

Ischaemic stroke subtypes in children and adults were compared to determine the similarity in aetiologies. Thirty-six children (22 females, 14 males; median age 5 years 7 months, range 6 weeks to 15 years 10 months) and 50 adults (35 males, 15 females; median age 44 years, range 17 years 2 months to 49 years 11 months) who had presented with ischaemic stroke between 1995 and 2000, were categorized using a modified version of the Trial of Org 10172 in Acute Stroke Therapy (TOAST) classification. Proportions of patients in the subtypes of the TOAST classification system were significantly different in the two groups (χ2 test, p<0.01). The first three subtypes (large artery atherosclerosis, cardioembolic, and small vessel disease) accounted for the majority of adult strokes (27 of 50). In contrast, only three of 36 children were accounted for within these three subtypes. The majority of children (29 of 36) were classified within the ‘other determined aetiology’ subtype. Aetiology was undetermined in 12 of 50 adults compared with three of 36 children. Causes of ischaemic stroke in children and adults are distinct. A classification system for ischaemic stroke in children would be useful for collaborative studies.

We present two siblings (male and female) with very similar characteristics comprising dysmorphic features, severe developmental delay, progressive microcephaly, tonic seizures, and hypothyroidism. The male also had micropenis and cryptorchidism. Both children developed pericardial effusions which caused the death of the female at age 16 months. The male's cardiac function was stable at last follow-up at the age of 15 months. Cerebral imaging showed widespread intracranial calcifications, delay in myelination, hypoplasia of the corpus callosum, and cerebral atrophy. CSF examination showed normal CSF white-cell count and was negative for interferon, although a cytotoxic antibody was thought to be present. Other causes of a neurodegenerative condition and congenital infection were excluded. The combination of these features has not been described before. We believe that these patients represent a new syndrome which has some of the features of Aicardi–Goutières syndrome but is distinct from it.

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.

As President of the 16th Scientific Meeting of the European Academy of Childhood Disability, I have been privileged to influence the scientific programme and place some emphasis on issues of hand function. Thus we will enjoy being addressed at the Edinburgh meeting by Professor Sheila Henderson on the topic of ‘What makes handwriting so difficult?’.

Children with cerebral palsy (CP) often have speech, language, and/or communication disorders and are referred to speech and language therapy (SLT). They may also be referred to SLT services for dysphagia: treatment of which is beyond the scope of this review. Although the exact prevalence of the communication disorders associated with CP is not known, it has been estimated that approximately 20% of children with a diagnosis of CP have severe communication impairment and are classified as non-verbal. Many more will have less severe speech and communication disorders as a consequence of their motor impairment, or disorders arising from speech, language, and cognitive processing deficits associated with CP.

This reply concerns the paper which may be found at http://www.journals.cambridge.org/abstract_S0012162200000670

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.

The aim of this study was to evaluate whether EEG (i.e. positive Rolandic sharp waves) can be used to predict neurodevelopment in newborn infants with periventricular leukomalacia and compare the predictive value with that of MRI. A sequential cohort of neonates (n=45; 33 males, 12 females; mean gestational age 31.2 weeks, SD 2.7, range 27 to 37.8 weeks; mean birthweight 1592g, SD 601g) with periventricular hyperechogenicities on cranial ultrasound was recruited for this study. EEGs were analyzed for positive Rolandic sharp waves. Neurodevelopment was evaluated at the ages of 12 and 18 months. In the whole group the probability of a poor outcome was 24% and the probability of any impairment was 33%. If the number of positive Rolandic sharp waves was no more than 0.1 per minute, the probability of a poor outcome was reduced to 9% (95% confidence interval [95%CI] 2 to 27%) and the probability of any impairment was reduced to 13% (95%CI 4 to 32%). In all infants with more than 0.1 positive Rolandic sharp waves per minute the probability of a poor outcome was 41% (95%CI 23 to 61%) and of any impairment was 55% (95%CI 34 to 73%). In these infants MRI identified infants with a poor outcome with a sensitivity of 1.00 (95%CI 0.70 to 1.00) and a specificity of 0.92 (95%CI 0.67 to 0.99), and infants with any impairment with a sensitivity of 0.83 (95%CI 0.55 to 0.95) and a specificity of 1.00 (95%CI 0.72 to 1.00). Results suggest that if an EEG of an infant with periventricular leukomalacia contains no more than 0.1 positive Rolandic sharp waves per minute the probability of a normal or mildly delayed development is high (0.91, 95%CI 0.73 to 0.98). MRI enhances the accuracy of the outcome prediction slightly; however, owing to a wide confidence interval, this advantage is negligible. However, if the frequency of the positive Rolandic sharp waves exceeds 0.1 per minute, MRI can significantly enhance the precision of the prediction of outcome.

The aim of this study was to characterize impairments of hand function in individuals with myelomeningocele (MMC) using a quantitative method. A grip–lift task was studied in 29 individuals with MMC (17 females, 12 males; mean age 12 years 4 months, SD 5 years 6 months; range 4 to 28 years) and 29 age- and sex-matched control participants. A small object (weight 200g) was grasped and lifted with a precision grip of the dominant hand and grip forces (GF) and time intervals were measured. Sensibility was examined with a two-point discrimination test. In those with MMC, the latency between GF onset of the thumb and index finger and ensuing preload duration were both significantly prolonged (p<0.01). Fingertip forces were excessively high and variable. Several parameters differed significantly between those with MMC and control individuals: GF peak, GF at start of loading, mean GF, and the SDs of the GF during static holding. Although the two-point discrimination task indicated deficits of sensibility, these did not correlate with grip force parameters. Results demonstrate that fine motor skills in patients with MMC are impeded by slowness and inadequate adjustments of manipulative forces.

The aims of the study were to examine the relationship between long-chain polyunsaturated fatty acid (LCPUFA) status at diagnosis of phenylketonuria (PKU)and neurodevelopment through the first 12 months of life, and to assess whether any difference exists between infants breastfed and bottlefed in the first days of life on the basis of LCPUFA status. Twenty infants with PKU were prospectively examined through the first year of life. Plasma fatty acids were measured in infants at diagnosis. Plasma phenylalanine levels were determined monthly. Main outcome measures were the Bayley Mental Developmental Index (MDI) and Psychomotor Developmental Index (PDI) at 5 and 12 months of age, and the visual function at 12 months, evaluated by P100 wave latencies with visual evoked potentials. A higher PDI score was associated with higher plasma arachidonic acid at diagnosis (adjusted correlation coefficient of PDI at 5 months, r=0.38, p=0.05). P100 wave latency at 15 minutes of arc (15') was associated with the early plasma arachidonic acid (adjusted r=–0.56, p=0.02) and phenylalanine levels at 12 months (adjusted r=0.22, p=0.05). No association was found between MDI score and any essential fatty acids. Breastfed infants exhibited higher plasma arachidonic acid (mean difference, Δ,=3.4%; 95% confidence interval [CI]=1.2–5.6%) and shorter P100 wave latency at 15' (Δ=–21ms, 95%CI=–30 to –12) than bottlefed infants. Within the population of this study, a weak positive association has been found between plasma LCPUFAs at diagnosis (higher in breastfed infants) and neurodevelopmental indices through the first year of life.

Eye research in infants who experience significant perinatal complications has been restricted to evaluation of structural ocular disease and spatial vision, and results show that these aspects of vision are at increased risk for abnormal or delayed development. To expand upon previous work, a battery of 17 vision tests was employed to assess, comprehensively, long-term outcome of functional vision. Seventy-six children (38 males, 38 females), between the corrected ages of 2 years 11 months and 10 years 2 months (mean 6y 6mo) with various significant complications (e.g. very preterm birth, bronchopulmonary dysplasia, intraventricular hemorrhage) were compared to normally developing, age-matched control children (n=61; mean age 7y 1mo) on measures of visual acuity, contrast sensitivity, stereoacuity, peripheral vision, color vision, astigmatism, and binocular alignment. Results showed that at-risk children had more test results that fell within the suspect or abnormal range. At-risk children also had a slightly higher incidence of ocular disorders (e.g. strabismus) and refractive error. These data imply that children who experienced significant perinatal risk factors are at risk for long-term deficits of functional vision. However, most of these deficits appear to be relatively mild.

Inter- and intrahemispheric somatosensory functions were evaluated in blinded tests of 11 children with partial and complete agenesis of the corpus callosum (age range 2 years 8 months to 11 years 9 months) and compared with those of age- and sex-matched control individuals both normally developing and with neurological impairment. Tests included uni- and bimanual measures of stereognosis, haptic visual discrimination, kinaesthesis, and texture matching. Children with callosal absence displayed significant difficulties with many somatosensory functions, but most deficits were no greater than those of the children who had neurological dysfunction and an intact corpus callosum. Children with callosal absence, however, had significantly greater difficulty with bimanual texture matching, seemingly because this task required refined spatial interpretation of somatosensory input. Response times for the individuals with callosal absence were significantly greater than those for control participants with neurological impairment on several tasks in which overall accuracy of performance among groups did not significantly differ. These findings suggest that children with agenesis of the corpus callosum may have less efficient and slower processing capacity for certain types of somatosensory information. Possible compensatory mechanisms are discussed.