This study documents the development of hand and upper-extremity function in young children who have cerebral palsy (CP) with upper-extremity involvement using longitudinal data. Assessments of hand function and the quality of upper-extremity movement were conducted on 29 males and 22 females (mean age 36.2 months, SD 10.6; age range 16 to 60 months at baseline) and on four other occasions over 10 months. Linear mixed effects modeling was used to estimate average developmental curves and the degree of individual differences in the patterns of development which were conditional on the body-site distribution of CP and severity of impairments. Results indicate that hand function in this clinical population develops differently from overall upper-extremity skills with declines in function in upper-extremity skills being more common and pronounced among older children. However, there is substantial interindividual variation. Distribution of CP and severity of impairments were significant predictors of development. Results are discussed in terms of their clinical implications.

Aicardi's presentation on epilepsy at the 1998 International Child Neurology Association conference in Ljubljana, Slovenia, started dramatically by using the iceberg, with larger amounts of ice below the surface, as an analogy for epilepsy. He then talked about the phenomena associated with epilepsy - the learning and behaviour problems. Beckung and Uvebrant titled their 1997 paper on epilepsy ‘Hidden dysfunction in childhood epilepsy’. ‘Hidden’ and ‘under the surface’ maybe, but hidden from whom? I suspect young people with epilepsy and their parents have been well aware for many years of some of these associated problems. But health professionals presented with children with epilepsy have concentrated too much on the convulsive episode itself and ignored the broader spectrum.

To delineate quantitatively differences in suck–swallow–respiration coordination during feeding in term infants exposed to drugs in utero, 16 control infants (10 females, six males; mean birthweight 3209g, standard error of the mean [SEM] 103g) and 15 drug-exposed infants (seven females, eight males; seven cocaine, eight opiates; neonatal abstinence [Finnegan] scores less than 10; mean birthweight 3001g, SEM 93g) were studied in the first three days of life and again at one month of age. Coefficients of variation (COVs) of suck–suck, swallow–swallow, and breath–breath intervals were used as measures of stability of individual rhythms. COVs of suck–swallow and swallow–breath intervals were used to determine stability of multiply integrated rhythms. In the first three days of life, a significantly higher percentage of ‘apneic swallows’ (runs of three or more swallows not associated with breathing movements, divided by total run-swallows) was noted during feeding in the drug-exposed infants (mean 5.3% SEM 1.7%) compared with controls (mean 0.9%, SEM 0.4%; p<0.02), who also had less breath–breath rhythmic stability (higher COV) and shorter swallow–breath intervals. These differences were no longer evident at one month of age. Opiate-exposed infants were generally more affected than the cocaine-exposed infants. Swallowing was less rhythmic in the drug-exposed cohort, especially in opiate-exposed infants, but this difference also disappeared by one month. In the first days of life, drug-exposed infants were less efficient feeders, ingesting less volume per run-swallow than controls (mean 0.31ml, SEM 0.05ml, versus 0.45ml, SEM 0.05ml; p<0.05). The decreased efficiency appeared to be compensated for by a slightly faster swallow rate (mean 53 swallows per minute SEM 2 versus 47 swallows per min, SEM 1, in controls; p<0.005). By one month of age these differences between groups had disappeared as well. Intrauterine drug exposure, even in infants with relatively mild symptoms of withdrawal, may adversely impact development of brainstem respiratory and swallow centers, thus affecting, albeit transiently, the underlying biorhythms of feeding.

White matter alterations in chromosomal disorders have been reported mainly in 18q–syndrome. Our aim was to evaluate white matter alterations in patients with chromosomal abnormalities detected through conventional cytogenetic techniques. Forty-four patients with chromosomal abnormalities, excluding trisomy 21, were diagnosed in our hospital between May 1999 and December 2002 (24 males, 20 females; mean age 6 years 4 months [SD 3 years 2 months], range 0 to 18 years). Of the 44 patients, 14 had brain magnetic resonance imaging (12 males, 2 females; mean age 4 years 2 months [SD 4 years 4 months]; five with sex chromosomal disorders [SCD] and nine with autosomal chromosomal disorders [ACD]). Of these 14 patients, eight (four with SCD and four with ACD) had abnormal white matter findings of similar patterns. These patients had pseudonodular, subcortical, and periventricular white matter high signal intensity images in T2, and fluid-attenuated inversion recovery sequences that were isolated or confluent. The images did not correlate with the neurological clinical state. Given that eight of the 14 patients showed these lesions, their prevalence in different chromosomal abnormalities appears to be high, even though they have not been well reported in the literature. To our knowledge, these alterations have never been described in SCD. We concluded that unknown factors related to the myelination processes may be localized in different chromosomes.

We report on a 13-year-old male who had acute enteroviral encephalitis causing cerebellar symptoms at the age of 10 years. Magnetic resonance imaging (MRI) showed no abnormalities. Clinically he appeared to be recovered completely after 6 months. Twenty-three months after the recovery, MRI was performed because he presented with slight lower-limb and truncal ataxia experienced as lack of foot coordination while playing football or riding a bicycle. MRI demonstrated severe cerebellar atrophy. Clinically he recovered completely in 10 days. Only sophisticated electrophysiological methods revealed cerebellar dysfunction. The case provides evidence for the plasticity of cerebellar regulatory structures involved in the coordination of fine movements. It seems that in childhood the slow, isolated disintegration of cerebellar systems can be compensated for by upper thalamic or telencephalic connections, in a similar way to a congenital deficit of the cerebellum.

Spinal muscular atrophy (SMA) is a chronic illness characterized by loss of motor function. The aim of the study was to investigate behavioural adjustment in 96 children and adolescents with SMA (47 males, 49 females; mean age 11 years 2 months, range 6 to 18 years). Forty-five non-affected siblings (26 males, 19 females; mean age 11 years 6 months, range 6 to 18 years) and 59 normally developing children (33 males, 26 females; mean age 10 years 8 months, range 6 to 18 years) were recruited as control participants. Behavioural symptoms were measured with the Child Behaviour Checklist (CBCL) and disorders were assessed with a structured psychiatric interview (Kinder-DIPS). Of the patients with SMA, 12.5% fulfilled the criteria for an ICD-10 or DSM-IV diagnosis, with separation anxiety disorder being the most common diagnosis. The CBCL total score was in the clinical range for 11.5% of patients, 20% of the siblings, and 11.7% of the control children; the externalizing score rates were 2.1%, 22.2%, and 11.9% respectively; the internalizing score 18.9%, 24.4%, and 13.6% respectively. Comorbid psychopathology was not influenced by sex, IQ, nor severity of SMA, and only externalizing behaviour was correlated to age. In conclusion, children and adolescents with SMA are characterized by a low psychiatric comorbidity not different from control individuals. The group with the highest rate of behavioural problems and with the greatest need for intervention were the non-affected siblings who had a two- to threefold higher rate of behavioural problems than the normative population.

Non-ketotic hyperglycinemia (NKH), also termed glycine encephalopathy (MIM 605899), is an autosomal recessive inborn error of glycine degradation which leads to severe neurological symptoms and profound psychomotor disability. In NKH, glycine accumulates in all body fluids and tissues, including the CNS. The biochemical hallmark of NKH is increased glycine concentration in the plasma and to an even greater extent in the CSF, leading to an elevation of the CSF:plasma glycine ratio (C:PGR) to above 0.08 (normal <0.04). The fundamental defect is in the glycine cleavage system (GCS), a multienzyme complex located in the inner mitochondrial membrane of the liver, kidney, brain, and placenta. It consists of four individual protein components termed P (a pyridoxal phosphate-dependent glycine decarboxylase), H (a lipoic acid-containing hydrogen carrier protein), T (a tetrahydrofolate-dependent protein), and L (a lipoamide dehydrogenase). In more than 80% of patients the defect is in the P protein (MIM 238300), but defects in the T (MIM 238310) and H (MIM 238330) proteins have also been described. The pathogenesis of NKH is related to the properties of glycine as an excitatory neurotransmitter acting via the N-methyl-D-aspartate receptor in the cortex and an inhibitory neurotransmitter in the brainstem and spinal cord.

This study describes the physical disability of 30 children and adolescents with Pompe disease (23 males, 7 females; mean age 7 years 7 months, SD 5 years 6 months; range 6 months to 22 years 1 month) using a disease-specific functional instrument. Data were collected by telephone interview with parents using a modified version of the Pediatric Evaluation of Disability Inventory. The sample included mostly males of Caucasian origin, recruited from several countries. Disability profiles in mobility and self-care skills were heterogeneous because functional status was not related to chronological age. Most children had severe functional deficits: nearly two-thirds of the sample was non-ambulatory and could not perform age-expected self-care skills. Three-quarters of the children used a ventilator. Two children were able to participate in age-appropriate sports and peer activities. Although the mean chronological age of the sample was 7 years 7 months, the mean age-performance for self-care skills was under 2 years 6 months and under 1 year 6 months for mobility. Implications of physical disability findings for individuals with Pompe disease are discussed.

This study examined cognitive development in Silver–Russell syndrome (SRS), a condition with intrauterine growth retardation, persisting short stature, and specific stigmata. Neuropsychological function and cognitive abilities were assessed in a sample of 36 children with SRS (21 males, 15 females; mean age 7 years 6 months, SD 2 years 8 months; age range 3 to 12 years) and 25 normally developing siblings (mean age 8 years 6 months, SD 2 years 7 months; age range 3 to 12 years) using the Kaufman Assessment Battery for Children. Special measures were taken to control for confounding factors and sample bias. Mean overall IQ score in the total SRS sample (95.7, SD 10.63), as measured by the Mental Processing Composite Scale, was significantly reduced (p=0.021) compared with test norms (IQ 100, SD 15), indicating a moderate cognitive impairment. Subscale analysis revealed some specific deficiencies. However, these cannot be attributed to an established category of specific learning disorder. The mean score in the Achievement Scale (91.25, SD 14.92), which is more sensitive to educational influences, showed stronger deficits (p=0.001). The sibling control group achieved a slightly better mean IQ score (104.20, SD 12.32) than test norms (p=0.10). Direct analysis of paired differences between the subsample of children with SRS and a sibling among the control group (n=25) revealed a significant mean difference of 8.08 IQ points (p=0.011). Risk factor analysis revealed that cognitive development is not associated with birth length (p=0.404), birthweight (p=0.820), growth hormone therapy (p=0.810), phenotypic severity (p=0.828), or sex (p=0.880). Two children with maternal uniparental disomy for the entire chromosome 7 had markedly lower IQ scores (81 and 84 respectively). In contrast to the few previous findings, children with SRS show only moderate, but significant, impairments in cognitive outcome, which are more striking in our sample when compared with siblings than with test norms.

The study by Sullivan et al. (p 877) aimed to measure energy balance and body composition in children with severe cerebral palsy (CP) who were fed either orally or by gastrostomy tube. The authors show that feeding by gastrostomy tube, using a commercial formula, may lead to disproportionate (excess) fat deposition in these children. They note that while caloric supplementation of children with eating impairments is associated with weight gain, the nutritional composition of a diet for this group of children has yet to be determined.

As a graduate psychology student in the early 1960s, I came to the University of Iowa Hospital School with much energy, considerable naivety, and many questions. Do children with cerebral palsy (CP) have difficulties with psychological adjustment, what do their families need, can we really have an effect on their quality of life, do we know anything that really makes a difference in the long term? What do we mean by ‘they have to accept their disability’, what standard is the baseline from which to best measure improvement, and what is ‘normal’ adjustment if a child has a physical disability? Over the last three decades, has practice changed for the better for the child with CP? Have our perspectives changed on any of these questions?

A 10-year-old male was referred with difficulties at school. He had particular difficulty with reading long words, following the sequence of text down a page, writing words in the correct order, writing words in line, and copying from the blackboard. He had a history of infective endocarditis complicated by intracerebral haemorrhage at the age of three years. Detailed history taking revealed symptoms typical of ‘dorsal stream’ pathology, namely a deficit of ‘vision for action’. This included a spatial disorder of attention (simultanagnosia), defective hand and foot movements under visual control (optic ataxia), and acquired oculomotor apraxia which are consistent with Balint's syndrome. Strategies were suggested for coping with the symptoms and one year later a distinct improvement in adapting to the disability was found.

This study aimed to investigate the extent to which gesture performance depends on input modality and whether gestural development patterns differ in children with and without developmental coordination disorder (DCD). Therefore, development of limb gesture was studied in 140 children – 105 control children(94 males, 11 females) and in 35 children with DCD (29 males, six females) divided into three age bands: 5 to 6 years, 7 to 8 years, and 9 to 10 years. Transitive gestural skills were investigated through four input modalities: Imitation, Visual plus Tactile , Visual, and Verbal. Results indicate that limb gestural skills in normally developing children follow a progressive maturation pattern: Imitation, Visual plus Tactile, and visual routes appear to mature before the verbal route and appear to be available earlier to enable the child to perform a correct gesture. The performance of children with DCD throughout the four modalities suggested a general maturational delay. When gestures were required through the Verbal modality, there was a specific deficit in using sensory–motor information and in integrating it into a motor representation. In the Verbal modality, children with DCD performed consistently worse than their control peers and the difference in performance tended to increase rather than improve with age.

Botulinum toxin type A (BTX-A), serial casting, and combined treatment for spastic equinus were compared by chart review. Fifty-five patients with diplegia (n=21), hemiplegia (n=17), quadriplegia (n=6), and other diagnoses (n=11) were reviewed. Thirty-one patients had Gross Motor Function Classification System (GMFCS) scores of I or II, 10 had a GMFCS score of III, and eight had GMFCS scores of IV or V (for six there were no available data). Mean age was 7 years 1 month (SD 4 y 8mo). The combined group showed a significantly greater increase in passive range of motion (ROM) of the ankle joint in comparison with BTX-A alone (p=0.0002), with a mean of 17° (SD 11.2) versus 5° (SD 6.7), and casting alone showed a significantly greater increase in comparison with BTX-A alone (p=0.0001), with a mean of 15° (SD 4.5) versus 5° (SD 6.7). With cast number controlled, change in ROM after casting with and without BTX-A was not significantly different (p=0.37). There was no significant difference between casting with or without BTX-A, and both improved ROM to a greater degree than BTX-A alone. Casting demonstrated a significantly more robust impact on range of motion than BTX-A alone.

In contrast to physical characteristics, the developmental and behavioural characteristics of children with Sotos syndrome are not well documented. Data from a survey of 27 children (17 males and 10 females; mean age 10 years 7 months; range 6 to 15 years) with mild and moderate learning disabilities were obtained concerning school placement, social networks, adaptive competence, and behavioural problems and compared with a control group matched for cognitive level and age. Ten children attended a mainstream school (with remedial assistance), eight were placed in a school for children with learning disabilities, nine children attended other special schools. Social contact problems and anxious behaviour were reported as the most prominent characteristics of children with Sotos syndrome. Some implications for psychological counselling and educational support are discussed.

Alternating hemiplegia of childhood is a rare disorder characterized by recurrent attacks of hemiplegia affecting either side of the body, oculomotor and autonomic disturbances, movement disorders, and progressive cognitive impairment. We report on one family with autosomal dominant alternating hemiplegia. The disorder was first recognized in a 9-year-old child, the third son of the family, who presented with learning disability, tonic–clonic seizures, dystonic attacks, and episodes of alternating hemiplegia starting at the age of 2½ years. His mother and three brothers had similar symptoms. The maternal uncle, who has learning disability, had experienced multiple dystonic attacks. Tests performed on the family, including computerized tomography, magnetic resonance imaging, and magnetic resonance angiography of the brain as well as metabolic evaluation, were normal. Cytogenetic analysis was normal and mitochondrial DNA analysis revealed no deletions or mutations in the four affected family members and the grandmother. An autosomal dominant mode of inheritance is suggested by the fact that both sexes are affected in two generations.

A strong association between stress in pregnancy and small head circumference in infants at birth was reported in 1994. This important finding has never been replicated. In a follow-up study of 4211 participants with singleton pregnancies, information on life events was collected twice during pregnancy and head circumference measured shortly after birth following standard procedures. No association was found between experienced or perceived stress as a result of life events during pregnancy and head circumference in the infants. In conclusion, stress in pregnancy may influence foetal brain development in many ways, but we found no support for an effect on the size of the brain as measured by head circumference at birth.