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 was undertaken to test the hypothesis that children with autistic spectrum disorders often have macrocephalus, and that those without comorbid learning disability are most frequently affected. Fifty consecutive children with Asperger syndrome (45 males, five females; mean age 9 years, range 1 year 6 months to 16 years) without indications of underlying medical disorders were matched for birth year and sex with 50 children (45 males, five females; mean age 6 years 4 months, range 1 year 4 months to 13 years 11 months) who met criteria for autistic disorder (a lower-functioning disorder within the autism spectrum) and with 50 children (45 males, five females; mean age 8 years 4 months, range 1 year 6 months to 15 years 5 months) who met criteria for attention-deficit–hyperactivity disorder. Birth and neuropsychiatric follow-up records were examined and data relating to occipitofrontal circumference, weight, and height were detailed. The group with Asperger syndrome included a subset of individuals with macrocephalus recorded both at birth and at follow-up after the first year of life. Another subgroup developed macrocephalus during early childhood. Autistic spectrum disorders include a subgroup with macrocephalus characterized by a relatively high level of functioning and a clinical presentation most often consistent with a diagnosis of Asperger syndrome.

The effects of recreational horseback riding therapy (HBRT) on gross motor function in children with cerebral palsy (CP: spastic diplegia, spastic quadriplegia, and spastic hemiplegia) were determined in a blinded study using the Gross Motor Function Measure (GMFM). Seventeen participants (nine females, eight males; mean age 9 years 10 months, SE 10 months) served as their own control. Their mean Gross Motor Function Classification System score was 2.7 (SD 0.4; range 1 to 5). HBRT was 1 hour per week for three riding sessions of 6 weeks per session (18 weeks). GMFM was determined every 6 weeks: pre-riding control period, onset of HBRT, every 6 weeks during HBRT for 18 weeks, and 6 weeks following HBRT. GMFM did not change during pre-riding control period. GMFM Total Score (Dimensions A–E) increased 7.6% (p<0.04) after 18 weeks, returning to control level 6 weeks following HBRT. GMFM Dimension E (Walking, Running, and Jumping) increased 8.7% after 12 weeks (p<0.02), 8.5% after 18 weeks (p<0.03), and remained elevated at 1.8% 6 weeks following HBRT (p<0.03). This suggests that HBRT may improve gross motor function in children with CP, which may reduce the degree of motor disability. Larger studies are needed to investigate this further, especially in children with more severe disabilities. Horseback riding should be considered for sports therapy in children with CP.

In a representative series of 176 children with cerebral palsy (CP), aged 5 to 8 years, associations were studied between additional neuroimpairments, activity limitations, and participation restrictions in the domains of mobility, education, and social relations as proposed in the International Classification of Functioning Disability and Health (ICF). Learning disability occurred in 40%, epilepsy in 35%, visual impairment in 20%, and infantile hydrocephalus in 9% of the children. Additional neuroimpairments were most frequently seen in children with tetraplegia and dystonic CP and in those with antecedents of brain malformations or severe perinatal compromise. Activity limitations were studied with the Gross Motor Function Classification System (GMFCS) and a system for grading bimanual fine motor function (BFMF) was developed. There was a strong correlation of 0.74 between the GMFCS and BFMF (p<0.001). Learning disability, activity limitations, and participation restrictions were all clinically strongly associated with each other (p<0.001). Restriction in mobility was best predicted by the GMFCS, learning disability, and the BFMF; in education by learning disability and the GFMCS; and in social relations by learning disability, the GMFCS, and BFMF. Motor function and learning disability were important predictors for participation restrictions in children with CP. The ICF has the capacity to be a model to help plan interventions for specific functional goals and to ascertain the child's participation in society.

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.

The aim of this study was to establish correlations between minor neurological findings and developmental performance. A cohort of 72 preschool children was studied (38 females, 34 males; mean age 3 years 8 months, SD 1 year 2 months, range 2 to 5 years) who were considered to be at high risk due to placental insufficiency. The cohort was divided into four categories of neurological status: (1) minimal cerebral palsy (MCP) with independent walking before age 2 years; (2) Amiel-Tison triad (ATT) including imbalance of passive axial tone, phasic stretch reflex in triceps surae, and cranial signs, particularly on the squamous suture; (3) intermediate with one or two of the three ATT signs; and (4) absence of neurological findings. Six subscales of the Griffiths Mental Developmental Scales assessing locomotion, eye–hand coordination, interpersonal skills, language, performance, and practical reasoning were administered. Significant differences were found according to neurological status in three specific domains of development: coordination (F=2.84, p=0.04), language (F=3.65, p=0.02), and practical reasoning (F=3.62, p=0.02). In addition, significant differences were also found in language (L) and practical reasoning (R) performances according to the side of the abnormal stretch reflex: bilateral stretches (L=87.8; R=75.3) or an isolated right stretch (L=95.3; R=83.6) are more strongly associated with impaired developmental performances than an isolated left stretch (L=101.3; R=88.2) with F=2.94; p=0.04 for language and F=3.00, p=0.04 for practical reasoning. We concluded that a short neurological examination, easily performed by pediatricians and family practitioners, can identify permanent markers of minor brain damage occurring before, during, or soon after birth and so anticipate consequences.

This study examined comorbid psychiatric symptoms in a large, community-based sample of children and adolescents. The study sample comprised a total of 3006 school children: 413 preschool (3 to 5 years; 237 males, 176 females; mean age 4 years 2 months, SD 8 months), 1520 elementary school (5 to 12 years; 787 males, 733 females; mean age 8 years 2 months, SD 1 year 11 months), and 1073 secondary school children (12 to 18 years; 573 males, 500 females; mean age 14 years 4 months, SD 1 year 10 months), all of whom were attending regular education programs. Children were evaluated with a teacher-completed DSM-IV-referenced rating scale. The sample was divided into four groups: attention-deficit–hyperactivity disorder with tics (ADHD+tics), ADHD without tics (ADHD), tics without ADHD (T), and a comparison group i.e. neither ADHD nor tics (Non). The percentage of children with tic behaviors varied with age: preschool children (22.3%), elementary school children (7.8%), and adolescents (3.4%). Tic behaviors were more common in males than females, regardless of comorbid ADHD symptoms. For many psychiatric symptoms, screening prevalence rates were highest for the ADHD groups (ADHD+tics>ADHD>T>Non). However, obsessive–compulsive and simple and social phobia symptoms were more common in the groups with tic behavior. Findings for a community-based sample show many similarities with studies of clinically referred samples suggesting that teacher-completed ratings of DSM-IV symptoms may be a useful methodology for investigating the phenomenology of tic disorders.

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.

This paper investigates gender differences in the peak latency and amplitude of the P1 component of the pattern-reversal visual evoked potential (pattern-reversal VEP) recorded in healthy term infants. Pattern-reversal VEPs in response to a series of high contrast black and white checks (check widths 120′, 60′, 30′, 24′, 12′, 6′) were recorded in 50 infants (20 males, 30 females) at 50 weeks post-conceptional age (PCA) and in 49 infants (22 males, 27 females) at 66 weeks PCA. Peak latency of the major component, P1, was considerably shorter in female compared with male infants. Differences in head circumference do not entirely account for the gender differences in peak latency reported here. A gender difference in P1 amplitude was not detected. These findings stress the importance of considering gender norms as well as age-matched norms when utilizing the pattern-reversal VEP in clinical investigations. Studies including a wider range of ages are clearly necessary in order to establish whether the earlier peak latencies in female infants represents a difference in the onset or rate of visual maturation.

Cerebral palsy (CP) consists of a wide range of lifetime physical disabilities caused by damage to the brain during intrauterine and early neonatal life. The risk of CP is increased among survivors of prematurity and in low-birthweight (LBW) infants. Increased prematurity and LBW rates are more common in multifoetal pregnancies, therefore, these pregnancies have also been associated with increased rates of CP. Given the world wide epidemic dimensions of multiple births, this paper discusses current concepts regarding CP in multifoetal gestations.