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services, ‘but sometimes we forget that there is actually but one child with one dysfunctional brain’ (Rapin I, unpublished).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 population study was to examine the severity and prevalence of co-occurring developmental delays in 4-year-old children, the rate of overlapping problems, and sex differences. A sample of 434 children (196 males, 238 females; mean age 4 years 3 months, SD 1 month) were administered the ‘Lene’ test: a comprehensive neurodevelopmental screening test. Results suggest that co-occurrence of attention-behavioural, motor-perceptual, and language delays occurring in school-aged children could already be detected at the age of 4 years. Isolated delays were usually mild, but co-occurring difficulties were mostly moderate or severe. Overlap between developmental delays depended on the severity of the problems. It emerged that males had more severe and more often co-occurring problems than females. Co-occurrence of developmental delays as a risk factor at the early stage of development is discussed.

In order to define potential subgroups pertaining to the spectrum of ‘high-functioning’ pervasive developmental disorders (PDDs) the medical and psychiatric records of 101 children with PDD were reviewed. Ninety-one children had a diagnosis of Asperger syndrome, nine had a PDD not otherwise specified, and one had ‘high-functioning’ autism. Mean age of the children (71 males, 30 females) was 9 years 8 months (age range 5 to 12 years). Apart from the core dysfunctions of the PDD, i.e. deficient social interaction, communication and repertoires, and restricted interests, 95% had attentional problems, 75% had motor difficulties, 86% had problems with regulation of activity level, and 50% had impulsiveness. About three-quarters had symptoms compatible with mild or severe attention-deficit–hyperactivity disorder (ADHD) or had deficits in attention, motor control, and perception (DAMP), indicating a considerable overlap between these disorders and high-functioning PDD in children of normal or near-normal intelligence. A combination of affective dysregulation, thought disturbance, and severely restricted social interaction, referred to as a multiple complex developmental disorder (MCDD; a condition possibly related to schizoaffective disorder), was recorded in about 8% of the children. Seventeen percent had another major medical diagnosis or medical syndrome, which highlights the importance of completing a neurological assessment of all children with PDDs.

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.

The aim of this study was to determine the reliability of family reports for the Gross Motor Function Classification System (GMFCS), a condition-specific discriminative measure of severity of movement disability for children with cerebral palsy (CP). We conducted a cross-sectional survey using a short questionnaire with families of children with CP for whom we already had ratings of GMFCS level made by a health professional. We assessed the potentially confounding effect of whether the family had discussed the GMFCS with a professional. Two hundred and one questionnaires were posted to families of which 97 (48%) were completed and returned. Mean age of the children (53 males, 40 females) was 9 years 5 months (SD 1 year 1 month), range 6 to 11 years. Children of the families who responded encompassed the spectrum of types and distribution of impairment and severity of movement disability. The intraclass correlation coefficient (ICC) of agreement between professionals and families who had discussed their child's GMFCS level with a health professional (n=35) was 0.97 (95% confidence interval [CI] 0.96 to 0.98); for those who had not (n=52) the ICC was 0.92 (95% CI 0.91 to 0.93); and for the whole sample (n=93) the ICC was 0.94 (95% CI 0.90 to 0.96). Stability between ratings made by health professionals for children when they were in the 4 to 6 year age band of the GMFCS and ratings made by families for the same children when they were in the 6 to 12 year age band (n=35) was ICC=0.96 (95% CI 0.95 to 0.97). The excellent agreement demonstrated in this study suggests that family reports of the GMFCS made by using our questionnaire provide a reliable method for measuring gross motor function in children between 6 and 12 years old. This might be more efficient for observational studies of large populations, experimental research, or community health administration than direct observation, particularly when professional assessment is not feasible.

This study explored the relationships between the Gross Motor Function Classification System (GMFCS), limb distribution, and type of motor impairment. Data used were collected in the Ontario Motor Growth study, a longitudinal cohort study with a population-based sample of children with cerebral palsy (CP) in Canada (n=657; age 1 to 13 years at study onset). The majority (87.8%) of children with hemiplegia were classified as level I. Children with a bilateral syndrome were represented in all GMFCS levels, with most in levels III, IV, and V. Classifications by GMFCS and ‘limb distribution’ or by GMFCS and ‘type of motor impairment’ were statistically significantly associated (Pearson's χ2p<0.001), though the correlation for limb distribution (two categories) by GMFCS was low (tau-b=0.43). An analysis of function (GMFCS) by impairment (limb distribution) indicates that the latter clinical characteristic does not add prognostic value over GMFCS. Although classification of CP by impairment level is useful for clinical and epidemiological purposes, the value of these subgroups as an indicator of mobility is limited in comparison with the classification of severity with the GMFCS.

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.

Height is fundamental to assessing growth and nutrition, calculating body surface area, and predicting pulmonary function in childhood. Its measurement is hindered by muscle weakness, joint, or spinal deformity. Arm span has been used as a substitute, but is inaccurate. The objective of the study was to identify a limb measurement that precisely and reproducibly predicts height in childhood. Males (n=1144) and females (n=1199), aged 5 years 4 months to 19 years 7 months, without disability were recruited from Melbourne schools. Height, arm span, ulna, forearm, tibia, and lower leg lengths were measured with a Harpenden stadiometer and anthropometer. Prediction equations for height based on ulna length (U) and age in years (A) were developed using linear regression. Ulna centile charts were developed by the LMS method. For males, height (cm)=4.605U+1.308A+28.003 (R2=0.96); for females, height (cm)=4.459U+1.315A+31.485 (R2=0.94). Intra- and inter-observer variability was 0.41% and 0.61% relative to the mean, respectively. Height prediction equations from tibia, forearm, and lower leg length were calculated. We show that ulna measurement is reproducible and precisely predicts height in school-age children. It appears to be superior to arm span measurement when neuromuscular weakness, joint, or spinal deformity exists. Ulna growth charts should facilitate growth assessment.

Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newborn screening and who were treated presymptomatically, or who were not screened but were diagnosed and treated after experiencing initial clinical symptoms (symptomatic children). In a follow-up of our study group, differences in development, social and behavioural adaptation, and signs of residual impairment were examined. Parents and physicians of children with PBD completed questionnaires which included the Child Behavior Checklist and Vineland Adaptive Behavior Scales. Information was obtained for 37 children (24 males, 13 females; median age at recruitment 6 years 8 months, range to 6 months–20 years; median length of follow-up 6 years 6 months, range 5 months to 18 years 3 months). All 11 symptomatic children had residual enzyme activity of <1%, or variants of the Michaelis–Menten constant which were not detected by newborn screening. Some symptomatic children showed residual impairments: hearing impairment (n=2), optic atrophy (n=2), both hearing impairment and optic atrophy (n=2). In addition, symptomatic children had a higher risk of delayed motor and speech development. No child with PBD detected by newborn screening (n=25) had auditory or visual loss; and milestones of speech development and motor skills were reached at an appropriate age. There was no significant difference in social adaptation or behavioural problems between symptomatic and asymptomatic children. Symptomatic children often have developmental delay and are at risk of irreversible damage to auditory, visual, or central nervous functions; whereas children with PBD (established presymptomatically following newborn screening) treated with biotin supplementation, do not experience these effects.

Depression is rare in early childhood and unusual in autism in this age group. We describe a female child aged 6 years with autism who presented with regression of developmental skills previously gained. Her sleep and appetite were poor, her affect was sad, and she had morbid speech content. She responded to treatment with antidepressant medication. When this clinical picture occurs in adults it is called depressive pseudodementia; paediatric neurologists and neuropsychiatrists need to be aware of it in children.

Botulinum toxin has rapidly gained wide acceptance as a treatment for focal spasticity, and is becoming more readily available. Early studies established its effectiveness, but many issues are still open for discussion. After a brief review of the historical and scientific development of botulinum toxin as a clinical tool and an outline of previous work in the field, some important questions are discussed in the light of more recent trials.