We conducted a double-blind placebo study to investigate the claim that hyperbaric oxygen treatment (HBO2) improves the cognitive status of children with cerebral palsy (CP). Of 111 children diagnosed with CP (aged 4 to 12 years), only 75 were suitable for neuropsychological testing, assessing attention, working memory, processing speed, and psychosocial functioning. The children received 40 sessions of HBO2 or sham treatment over a 2-month period. Children in the active treatment group were exposed for 1 hour to 100% oxygen at 1.75 atmospheres absolute (ATA), whereas those in the sham group received only air at 1.3 ATA. Children in both groups showed better self-control and significant improvements in auditory attention and visual working memory compared with the baseline. However, no statistical difference was found between the two treatments. Furthermore, the sham group improved significantly on eight dimensions of the Conners' Parent Rating Scale, whereas the active treatment group improved only on one dimension. Most of these positive changes persisted for 3 months. No improvements were observed in either group for verbal span, visual attention, or processing speed.

This study aimed to evaluate functional effects of Bobath therapy in children with cerebral palsy (CP). Fifteen children with a diagnosis of CP were recruited (9 males, 6 females; mean age 7 years 4 months, SD 2 years 8 months; age range 2 to 12 years). Types of motor disorder were as follows: spastic quadriplegia (n=9); spastic diplegia (n=4); athetoid quadriplegia (n=1), and ataxia (n=1). Participants were distributed across the following Gross Motor Function Classification levels: level I, n=1; level II, n=4; level III, n=5; level IV, n=4; and level V, n=1. Children awaiting orthopaedic intervention were excluded. A repeated measures design was used with participants tested with the Gross Motor Function Measure (GMFM) and Pediatric Evaluation of Disability Inventory (PEDI) at 6-weekly intervals (baseline, before and after Bobath therapy, and follow-up). As the data were of ordinal type, non-parametric statistics were used, i.e. Wilcoxon's test. Participants showed a significant improvement in scores in the following areas following Bobath therapy compared with the periods before and after Bobath therapy: GMFM total score (p=0.009); GMFM goal total (p=0.001); PEDI self care skills (p=0.036); and PEDI caregiver assistance total score (p=0.012). This demonstrates that in this population, gains were made in motor function and self care following a course of Bobath therapy.

Poor nutritional status and growth failure are common in children with cerebral palsy (CP). The aim of this study was to assess, within a subgroup of a large and clearly defined population of children with disabilities, the impact of feeding difficulties on (1) the quality (micronutrient intake) and quantity (macronutrient intake) of their diet and (2) their growth. One hundred children with disabilities (40 females, 60 males; mean age 9 years, SD 2 years 5 months; range 4 years 6 months to 13 years 7 months) underwent a detailed dietetic analysis and a comprehensive anthropometric assessment. Diagnostic categories of disability were: CP (n=90); global developmental delay (n=3); Marfan syndrome (n=1); intractable epilepsy (n=2); agenesis of the corpus callosum (n=2); methyl malonic aciduria (n=1); and congenital rubella (n=1). Neurological impairment was classified according to difficulty with mobility which was graded as mild (little or no difficulty walking), moderate (difficulty walking but does not need aids or a helper), and severe (needs aids and/or a helper or cannot walk). Results confirmed the significant impact of neurological impairment in children on body growth and nutritional status becoming worse in those with a greater degree of motor impairment. The major nutritional deficit was in energy intake, with only one fifth reportedly regularly achieving over 100% estimated average requirement (EAR), whilst micronutrient intake was less markedly impaired and protein intake was normal in this group (96% above EAR). Many children with neurological impairment would benefit from individual nutritional assessment and management as part of their overall care.

This study sought to examine the reliability and validity of three generic instruments for measuring the health of children with cerebral palsy (CP) and to compare them with a disease-specific measure, the Gross Motor Function Measure (GMFM). The Pediatric Evaluation and Disability Inventory (PEDI), the Pediatric Outcomes Data Collection Instrument (PODCI), and the Child Health Questionnaire (CHQ) were completed by the primary caregivers of 115 young children with spastic CP. The GMFM was administered to the children. The mean age of the sample was 5 years 8 months (range 3:1 to 10:4) and consisted of more males (58%) than females. The PEDI scales demonstrated higher internal consistency than the PODCI and CHQ scales. In comparison with the GMFM, the PODCI transfer and mobility scale (relative validity, 62%) and the PEDI mobility scale (relative validity, 53%) detected the most significant health differences between children with hemiplegia, diplegia, and quadriplegia. The PEDI social function scale detected the largest differences in cognitive function between children with an IQ of less than 70 compared with those with an IQ of 70 or greater. The reliability and validity of these different instruments varied significantly in this patient population.

Twenty-seven MRI examinations from 17 children (7 females, 10 males) with bilateral lesions of the basal ganglia and thalamus, presenting over a period of 8 years, were reevaluated, and correlated with the type of cerebral palsy (CP) as well as motor and cognitive impairment. Children were between 1 year 6 months and 17 years old at last examination (mean 5 years 9 months). Brain damage had occurred as a consequence of birth asphyxia in nine patients and of neonatal shock in four patients. No adverse event could be identified in four children. In these, late prenatal compromise is assumed, as extensive screening (including MR spectroscopy in two patients) did not yield an underlying metabolic disorder. Three different degrees of MRI lesion patterns could be defined: a mild pattern (involvement of nucleus lentiformis and ventro-lateral thalamus only; n=7), an intermediate pattern (involvement of nucleus lentiformis, ventro-lateral thalamus, and pericentral region; n=3), and a severe pattern (involvement of nucleus lentiformis, entire thalamus, pericentral region, and hippocampus; n=7). This grading of MRI findings correlated significantly with the severity of both cognitive and motor impairment and type of CP. Normal cognitive development and mild motor delay was only seen with the mild pattern. All children developed CP: purely dyskinetic CP was only seen with the mild pattern, whereas the dyskinetic–spastic or spastic CP types could be seen in all three lesion patterns, with dyskinetic–spastic CP more related to the moderate, and purely spastic CP more related to the severe pattern.

Infantile bilateral striatal necrosis (IBSN) is characterized by a dystonic movement disorder and basal ganglia imaging abnormalities. Acute IBSN often occurs after upper respiratory tract infections although no specific micro-organism which may cause IBSN has been identified. We present 2 children (1 year 2 months and 4 years) with acute IBSN after clinical pharyngitis. Both IBSN patients had serological evidence of recent beta-haemolytic streptococcal infection. Due to the association of post-streptococcal disorders with anti-basal ganglia antibodies (ABGA), we examined both patients for anti-neuronal antibodies. For comparison, 20 children with dystonia (9 females, 11 males; mean age 4 years 1 month), and 20 children with uncomplicated streptococcal infection (12 females, 8 males; mean age 5 years 9 months) were examined. Both IBSN patients had antibodies reactive against basal ganglia constituents of molecular weight 40 kDa. Immunohistochemistry showed antibody reactivity against large striatal neurons only. Other anti-neuronal antibodies were negative, supporting striatal specificity. All controls were negative for ABGA. Acute IBSN is part of the post-streptococcal autoimmune neuropsychiatric spectrum. An autoimmune aetiology should be considered in this phenotype, as immunomodulatory therapies may reduce morbidity and mortality.

Benign paroxysmal torticollis of infancy (BPTI) is a disorder characterized by recurrent episodes of head tilt secondary to cervical dystonia. Attacks are often accompanied by vomiting, pallor, and ataxia, settling spontaneously within hours or days. Episodes begin within the first 12 months of life and resolve by 5 years. We report four patients with BPTI. Symptoms started from 3 months of age, with head tilting lasting between 10 minutes and 2 months; the shorter episodes were followed by vomiting, apathy, and unsteadiness. Head tilt became less prominent after infancy, replaced by vertigo and eventually by migraine headaches. Two patients came from a kindred with familial hemiplegic migraine linked to CACNA1A mutation. BPTI may be regarded as a migraine aura equivalent. The syndrome poses interesting questions regarding varying phenotypic expression of calcium channelopathies at different stages of development.

The past decade has seen unparalleled advances in the application of molecular genetic methods to the study of neurodevelopmental disorder, including disorders with significant learning disability. Alongside this development there has been a substantial growth in the number of studies attempting to link genomic changes (deletion, reduplication, or silencing of genes) to cognitive and behaviour outcomes: in essence to link genotype to phenotype. A main benefit of this approach is that it permits an insight into the range of strengths and difficulties that can be associated with a disorder which in turn can guide the general management of children and adults with genetic causes of learning disabilities. One such disorder that has attracted attention in recent years is Cri du chat syndrome (CDC), first described by the French paediatrician Lejeune in 1963 who coined the term ‘cri du chat’ (‘cry of the cat’). Indeed, the hallmark cat cry is still regarded as an important early clinical diagnostic feature of this syndrome in some but not all affected newborn infants. Further research in the 1960s and 70s resulted in the publication of numerous case reports and a triad of clinical features became associated with CDC: the cat-like cry, dysmorphic facies, and profound global learning disability. It is now recognized that this triad does not present in all patients. Additional clinical features were also cited as being significantly over-represented in the condition. These included increased early childhood morbidity, restrictive language skills, and severely delayed psychomotor development. This somewhat pessimistic portrayal of CDC was challenged in the 1980s by the findings obtained from population-based studies and questioned more intensely in the 1990s as advances in molecular genetics allowed greater clarification of the syndrome's genotype and more detailed cognitive and behavioural studies demonstrated wider variability within the phenotype.