A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor apraxia (OMA) and other variable features has been reported. Ataxia–oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. AOA1 is associated with oculomotor apraxia, severe sensorimotor neuropathy, choreiform movements, cognitive impairment, and cerebellar atrophy at an early age. We describe a male child with AOA1 who is homozygous for the G837A (W279X) mutation in the APTX gene. He presented at the age of 3 years 6 months with some atypical features including absence of OMA, chorea, and cerebellar atrophy. These manifestations, in addition to peripheral neuropathy, appeared at 8 years of age. We highlight the importance of considering the diagnosis of AOA1 in children with early-onset cerebellar ataxia, once other well-known disorders such as Friedreich's ataxia and ataxia–telangiectasia have been excluded.

The Gross Motor Function Classification System (GMFCS) was developed in response to the need to have a standardized system to measure the ‘severity of movement disability’ in children with cerebral palsy (CP). The Surveillance of Cerebral Palsy in Europe classification ably describes the primary neurological impairment, subtypes, and topography of body involvement but currently includes non-standardized estimations of the degree of functional limitation. The reliability of other classification systems that measure functional ability such as ‘mild’, ‘moderate’ and ‘severe’, or ‘restricted walking’, ‘walking with aids’ or ‘non-walking’, or ‘household and community ambulator’ have not, to our knowledge, been evaluated. Palisano and colleagues used the underlying construct of self-initiated functional abilities in sitting and walking and the need for assistive devices, such as walkers or wheelchairs, to develop a new system, and set out to test its validity and reliability. The GMFCS now provides a method of describing the functional ability of children with CP in one of five levels. Children in Level I can perform all the activities of their age-matched peers, albeit with some difficulty with speed, balance, and coordination; children in Level V have difficulty controlling their head and trunk posture in most positions and in achieving any voluntary control of movement. Over the past few years the developers of the GMFCS have provided further evidence of the measurement properties of the system and it is being widely used. Here we systematically review publications that have cited the GMFCS, to describe the state of our knowledge about its properties and to describe its impact in the fields of research, clinical practice, and education to enhance our understanding of children with CP.

Tiagabine, developed as an anti-epileptic medication, has the potential to reduce spasticity. The purpose of the present study was to assess the effectiveness of tiagabine in decreasing spasticity and improving the functional abilities of children with spastic cerebral palsy (CP). Nine children (seven females, two males) with CP (six spastic quadriplegia, three moderate to severe spastic diplegia) were treated with tiagabine for a mean of 7.2 months. Median age was 4y 5mo (range 3y 2mo–10y). All children were non-ambulatory. According to the Gross Motor Function Classification System, six were Level IV and three were Level V. Only one child showed a median decrease [ges ]1.0 grade on the modified Ashworth scale in upper extremities, lower extremities, and overall. Another child had significant improvement in the Pediatric Evaluation of Disability Inventory Self-care score and improved feeding. None of the participants was found to have a significant improvement in motor function or a decrease in the number of motions (passive range of motion and muscle length test) that were limited. Reduction of nocturnal awakenings from painful spasms was reported in one child. Eight of the nine children experienced adverse side-effects during treatment. Although tiagabine was not found to be effective in decreasing children's spasticity or improving their function, its potential use in the relief of painful spasms associated with neurological conditions in the pediatric population warrants further investigation.

Eighteen children (13 males, five females) who had severe developmental language delay/disorder and some features of autism (although insufficient in severity and combination to meet ICD-10 diagnostic criteria for childhood autism) at preschool age (Time 1; mean age 4 years 4 months) were followed up 4 years later (Time 2; mean age 8 years 7 months). At the initial assessment the diagnostic dilemma was how much the social communication impairments and behavioural problems were secondary to the language problem and how much they constituted a genuine case of a pervasive developmental disorder. It was anticipated that at follow-up some children would continue to show social impairments but that in others social impairments would have receded as language competence improved. Follow-up assessments included the Wechsler Intelligence Scale for Children, the Clinical Evaluation of Language Fundamentals, the Children's Communication Checklist, and the Social Communication Questionnaire. At follow-up, five children had continuing language disorder and were considered to fulfil diagnostic criteria for childhood autism, four children had continuing language disorder and met criteria for atypical autism, and nine met criteria for atypical autism but had somewhat recovered language skills. Thus, even in the subgroup of children whose language ability had improved the features of autism had not dissipated. Severity of social communication impairments and repetitive behaviours at Time 1, rated retrospectively from case notes, were associated with severity of autism symptoms and pragmatic competence at Time 2. The findings are discussed in relation to the unclear boundary between autism spectrum disorders and language delay/disorder.

A 9-year-old boy with dyskinetic cerebral palsy secondary to neonatal encephalopathy is described. He presented with blurring of near vision which had begun to impact on his school work. Objective assessment of accommodation showed that very little was present, although convergence was almost normal. The near-vision symptoms were completely removed and reading dramatically improved with the provision of varifocal spectacles. Varifocal lenses provide an optimal correction for far, intermediate (i.e. for computer screens), and near distances (i.e. for reading). Managing this type of patient with varifocal spectacles has not been previously reported. It is clearly very important to prescribe an optimal spectacle correction to provide clear vision to optimize learning.

Children with cerebral palsy (CP) frequently grow poorly, compared with their typically-developing peers. Moreover, as children with CP age, their growth diverges further and further from that of typical children. The reasons for poor growth are multi-factorial and include nutritional, hormonal, physical, and neurological causes. Nevertheless, it appears that much of the poor growth is related to acute and chronic malnutrition at various points across the lifespan. The malnutrition is largely due to inefficient and dysfunctional feeding. While remediable to some extent, this dysfunctional feeding often cannot be overcome. Consequently, in children with (usually severe) CP, malnutrition is often treated by bypassing the dysfunctional oral feeding through the use of a gastrostomy.

Fourteen participants (six females, eight males) ranging in age from 7 years 11 months to 18 years 2 months (mean 11y 7mo) with a confirmed diagnosis of spastic cerebral palsy (CP) were included in the study. Participants included those who drooled (CP+, n=14); age- and sex-matched children with spastic CP who were dry to mild and never to infrequent droolers (CP–, n=14) as well as typically developing peers (CTRL, n=14) served as controls. Frequency of swallowing was measured by using simultaneous cervical ausculation and videotaping of the head and neck. Saliva production was measured with the Saxon test, a simple gauze-chewing procedure. In addition, Pediatric Evaluation of Disability Inventory (PEDI), Test of Nonverbal Intelligence-3 (TONI-3), dysarthria severity scale, and Gross Motor Function Classification System (GMFCS) scores were obtained for each participant. Both groups of participants with CP tended to swallow less frequently than typically developing participants and tended to produce less saliva than typically developing controls; however, these differences were not statistically significant. No correlation was found between amount of saliva produced and amount drooled (r=0.245). An analysis of variance (ANOVA) conducted on the PEDI functional skills mean scores indicated significant differences between the three groups (F(2,39)=23.522, p<0.0001). Likewise, an ANOVA conducted on the TONI-3 scores revealed statistically significant differences between the three groups (F(2,39)=31.761, p<0.0001). A Spearman's rho correlation indicated that GMFCS scores were not significantly correlated with drooling severity (Spearman's rho correlation=0.3951, p=0.037). Drooling severity was found to be positively correlated with dysarthria severity (Spearman's rho correlation=0.82, p<0.0001). These findings suggest that drooling in patients with CP is related to swallowing difficulties rather than hypersalivation.

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.

Children with hemiplegic cerebral palsy (CP) commonly exhibit tactile sensory deficiencies in their hands in addition to their motor problems. The aim of this study was to compare and evaluate the usefulness of some common tests of tactile sensibility for use with children with hemiplegic CP. Twenty-five children with hemiplegia aged between 5 and 18 years, and 19 control individuals participated. All children were examined with Semmes–Weinstein monofilaments, two-point discrimination (2PD), stereognosis of familiar objects, stereognosis of forms, and functional sensibility. Dexterity, spasticity, and bimanual task performance were also assessed. Results from the different sensory tests deviated greatly. We found three tests to be useful: 2PD of 3mm spacing, which was the most sensitive test, stereognosis of familiar objects, and functional sensibility assessed through the Pick-up test (comparing performance with and without the influence of vision). Stereognosis of forms and threshold values of touch (Semmes–Weinstein monofilaments) are seemingly less useful tests for children with CNS impairments. Deficient sensibility was strongly related to dexterity. Aspects concerning the testing methodology are discussed.

To investigate intrasession and intersession reliability of balance tests in children with or without disabilities, 50 children without disabilities (ND) and 36 children with cerebral palsy (CP) aged from 5 to 12 years were tested. Intrasession reliability of postural stability of the Smart Balance Master System and one-leg standing test were assessed in both groups and intersession reliability of the Smart Balance Master System and balance subtest of the Bruininks–Oseretsky Test of Motor Proficiency (BOTMP) were assessed in ND children. Intersession reliability of the postural stability test in ND children, obtained using the Smart Balance Master System, was of moderate to good reliability in centre target (CT), sway vision (SV), eyes open and sway surface (EOSS), and sway vision and sway surface (SVSS; ICC 0.72 to 0.84). In children with CP, intrasession reliability was high in CT (ICC 1). One-leg standing tests in both groups also had moderate to good intersession reliability (ICC 0.56 to 0.99). Agreement of failure score of lateral rhythmic shifting (LRS) at 1 second and 2 seconds pace was 85% and 93% respectively in ND children. Within the balance subtest of BOTMP, only two items had 100% agreement. Results suggest that postural stability tests in four conditions (CT, SV, EOSS, and SVSS), LRS, one-leg standing, and walking on a line are reliable and can be used to monitor balance control in ND children. Postural stability in CT condition and one-leg standing test are reliable in children with CP. Further study is needed to establish more reliable balance tests for children with CP.

Muscular dystrophy classification and diagnosis has been transformed over the 13 or so years since the cloning of the dystrophin gene (involved in Duchenne and Becker muscular dystrophy). A child or adult presenting with a muscular dystrophy can now expect a precise diagnosis. Precision of diagnosis brings with it improved information for the patient and their family in terms of genetic counselling and prognostic advice. Unfortunately precision of diagnosis still fails to be matched by the availability of curative treatments, though a greater understanding of the various subtypes of muscular dystrophy does means that more specific management can be planned. The purpose of this annotation will be to address the various subtypes of muscular dystrophy encountered particularly in childhood within the context of diagnostic standards and related molecular information which enhance the investigation and management of individuals with muscular dystrophy.

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.

The heterogenity of disorders covered by the term cerebral palsy (CP) may severely hinder communication between families on the one hand and health professionals, such as physiotherapists, paediatricians, and occupational therapists on the other. Common ground for communication about the child with CP is crucial for aspects such as diagnosis, treatment, care, management, and research. In his later work, Ludwig Wittgenstein introduced the concept of ‘language games’ (Sprachspiele) to underline that our use of language is permanently governed by rules, but not always by the same rules. On a daily basis we are involved in a large number of ‘language games’, where confusion and misunderstanding usually arise when a statement in one ‘language game’ is interpreted according to the rules of another. Speaking the same language, i.e. being engaged in the same ‘language game’ was one of the primary goals in the development of the Gross Motor Function Classification System, the recent redefinition of CP, as well as the recent development of the Manual Ability Classification System (MACS; also see Morris et al. p 950). This commentary focusses on the communication aspect of the MACS.

Cohen syndrome is a rare, genetic, connective-tissue disorder, with the genetic abnormality linked to chromosome 8q22. Its physical features (particular facial characteristics; body, limb, and visual abnormalities; height and weight problems) have been well documented but little is known about the psychological and behavioural development of individuals with the condition. Suggestion of a dual diagnosis of autism in a small minority of individuals led to a more detailed survey of parents belonging to the Cohen Syndrome Support Group, based in the UK. Thirty-three individuals, 18 males and 15 females, aged from 2 to 45 years (mean age 15 years) were involved in the study. Over half of the participants (n=19) showed a pattern of impairments in social and communication skills, together with rigid and stereotyped behaviours or interests that seemed to meet DSM-IV/ICD-10 criteria for autism. ‘Autistic-type’ problems were as common in females as in males. In almost all cases, parents had noted difficulties in their child before the child reached the age of 1 year. This study suffers from a number of methodological shortcomings including the fact that it was a postal survey, the sample size was small, and no standardized diagnostic or psychometric data were available. However, the incidence of social, communication, and behavioural problems would seem to warrant further research and a larger-scale study is planned in association with an independent investigation of physical and genetic characteristics in the same group of individuals.