This study aimed at investigating the possible dissociation between visual and spatial working memory (WM) by means of two different experiments. In the first experiment, a WM test for visual material and for spatial information was given to a group of 202 normally developing children (chronological age 7 years 5 months, SD 1.6 years; 109 males, 93 females). Results document a different developmental trend in the two span tests. In the second experiment, we presented the same visual and spatial WM tests to a group of 13 individuals with Williams syndrome (WS), seven males and six females (chronological age mean 18 years 3 months, SD 5.1; mental age mean 7 years 2 months, SD 1.5 years), and to a control group of 26 typically developing children 14 males and 12 females matched for mental age (mean 7 years 2 months, SD 1.4). The results of this second experiment show that, on average, the spatial span obtained by individuals with WS was significantly lower than control participants, but visual span was comparable in the two groups. Our data support the hypothesis of a dissociation within the visuo-spatial sketch pad slave system in the WM model.

This study examined the effect of neurodevelopmental treatment (NDT) and differences in its intensity on gross motor function of children with cerebral palsy (CP). Participants were 34 children (12 females, 22 males; mean age 7y 3mo [SD 3y 6mo], age range 3 to 14y) with mild to moderate spasticity and hemiplegia (n=10), diplegia (n=12), and tetraplegia (n=12). Gross Motor Function Classification System levels were: I (n=10), II (n=10), and III (n=14). The paired sample, which was obtained by ratio stratification and matching by sex, age, and distribution of impairment from a total of 114 children with CP, was assigned randomly to two groups: group A underwent NDT twice a week and group B five times a week for 16 weeks. The outcome measure used was the Gross Motor Function Measure, which assessed the performance of the children before and after intervention. The paired-sample t-test revealed that gross motor function of children from both groups improved significantly after intervention (p<0.05). Children in group B performed better and showed significantly greater improvement than those in group A (p<0.05). Results support the effectiveness of NDT and underline the need for intensive application of the treatment.

The following case reports describe a new condition of cerebellar ataxia, anterior horn cell disease, dystonia, and learning difficulties. Four cases are described. The condition appears to be of autosomal recessive inheritance as the group is made up of two pairs of sisters. All cases were evident by 3 years of age. Anterior horn cell disease was of a type not previously described at this age in association with cerebellar ataxia. Further genetic studies suggest the condition is not allelic with spinal muscular atrophy having no evidence of deletion of the survival motor neurone gene.

The aim of this study was to document the rate of survival among 288 severely affected pediatric patients (154 females, 134 males) with spasticity and neuromuscular scoliosis who underwent spinal fusion (mean age at surgery 13 years 11 months, SD 3 years 4 months), and to identify exposure variables that could significantly predict survival times. Kaplan–Meier survival analysis was performed demonstrating a mean predicted survival of 11 years 2 months after spinal surgery for this group of globally involved children with cerebral palsy (CP). Cox's proportional hazards model was used to evaluate predictive efficacy of exposure variables, such as sex, age at surgery, level of ambulation, cognitive ability, degree of coronal and sagittal plane spinal deformity, intraoperative blood loss, surgical time, days in hospital, and days in the intensive care unit. Number of days in intensive care unit after surgery and the presence of severe preoperative thoracic hyperkyphosis were the only factors affecting survival rates. This demonstrated statistically significant predictability for decreased life expectancy after spinal fusion in children with CP.

This study reports on a novel methodology using the V-scope to quantify elbow and shoulder movement in young children with obstetric brachial plexus palsy (OBPP), and the intra- and interreliability of this method. The V-scope, a portable, inexpensive movement analysis system, was configured in an L-shape, with two transmitting towers placed on the floor and one 1.35m off the ground. These towers received ultrasonic pulses from buttons that were placed over standardized landmarks of the child's trunk, chest, and upper limb. Two physiotherapists (a paediatric and a generalist) facilitated the maximum range of active elbow flexion/extension and shoulder abduction/flexion in 30 children with OBPP (18 females, 12 males; age range 6mo–4y 7mo; mean age 2y 6mo [SD 1y 2mo]). Assessments were conducted on two occasions, one week apart. The V-scope was found to be feasible to use by a specialist and a generalist physiotherapist, demonstrating moderate to high reliability coefficients, small measurement errors, and lack of missing data. The pediatric physiotherapist was more reliable in measuring elbow and shoulder movement compared with the generalist physiotherapist, which suggests that the same experienced, pediatric physiotherapist should assess elbow and shoulder movement across all occasions of testing.

It has been suggested that Chlamydia pneumoniae (C. pneumoniae) is involved in the pathogenesis of diverse diseases of the central nervous system (CNS), including multiple sclerosis. We report the case of a 12-year-old male with isolated recurrent optic neuritis and an associated CNS infection with C. pneumoniae. The patient presented with three attacks of optic neuritis within 5 months. A positive polymerase chain reaction for C. pneumoniae in the cerebrospinal fluid led to the diagnosis of a CNS infection with C. pneumoniae. After treatment with the antibiotic rifampicin, he experienced no further attacks during the follow-up period of 6 years. These findings suggest the possibility of a C. pneumoniae infection as a contributing factor or even causative event for the development of optic neuritis.

It is well known from behavioural experiments that children with specific language impairment (SLI) have difficulties discriminating consonant–vowel (CV) syllables such as /ba/, /da/, and /ga/. Mismatch negativity (MMN) is an auditory event-related potential component that represents the outcome of an automatic comparison process. It could, therefore, be a promising tool for assessing central auditory processing deficits for speech and non-speech stimuli in children with SLI. MMN is typically evoked by occasionally occurring ‘deviant’ stimuli in a sequence of identical ‘standard’ sounds. In this study MMN was elicited using simple tone stimuli, which differed in frequency (1000 versus 1200Hz) and duration (175 versus 100ms) and to digitized CV syllables which differed in place of articulation (/ba/, /da/, and /ga/) in children with expressive and receptive SLI and healthy control children (n=21 in each group, 46 males and 17 females; age range 5 to 10 years). Mean MMN amplitudes between groups were compared. Additionally, the behavioural discrimination performance was assessed. Children with SLI had attenuated MMN amplitudes to speech stimuli, but there was no significant difference between the two diagnostic subgroups. MMN to tone stimuli did not differ between the groups. Children with SLI made more errors in the discrimination task, but discrimination scores did not correlate with MMN amplitudes. The present data suggest that children with SLI show a specific deficit in automatic discrimination of CV syllables differing in place of articulation, whereas the processing of simple tone differences seems to be unimpaired.

Evaluation of the cognitive repercussions of an epileptic disorder and its treatment are important issues in clinical follow-up. This especially holds true for temporal lobe epilepsy (TLE) where resective surgery can be a valid treatment option. However, in patients where TLE coexists with another neurocognitive disorder, questions can arise about the precise nature of the neuropsychological deficits. The aim of the present study was to evaluate memory impairments, found in a male aged 12 years who had the dual pathology of fragile X syndrome and refractory TLE. Memory functions of this child were compared with those of a male aged 11 years 7 months with fragile X syndrome matched for intellectual functioning as indicated by highly comparable verbal (5y 5mo vs 5y 9mo) and non-verbal (7y 2mo vs 6y 1mo) cognitive age equivalents. Performance on each neuropsychological measure was evaluated twice, separately with normative data based on chronological age and on verbal or non-verbal cognitive level. A specific, distinguishable profile of task performance could be found only when controlling for general level of cognitive functioning. This made it possible to accurately evaluate neuropsychological abilities before and 6 months after anterior temporal lobe resection even in this male with a complex neurological pathology.

Philippi and colleagues' excellent randomized clinical trial (RCT: p 5) led me to reflect on two issues that I believe are worth considering. I hope these remarks may provoke further discussion among both the authors and readers.

EEG, flash electroretinogram (ERG), and visual evoked potential (VEP) findings are described in eight children with classical lissencephaly (six girls, two boys), with a mean age of 17.6 months (range 2 to 60 months). The EEG shows typically high-voltage activity. Eye movements were formally recorded in two patients, and both showed features associated with oculomotor apraxia. The ERG and VEP to flash stimulation were normal in all cases. Two subjects had pattern reversal stimulation, and their pattern VEPs were within normal limits. Some patients with lissencephaly may appear to have delayed visual maturation on first presentation, and EEG and eye movement studies are valuable in indicating neurological deficiency at an early stage in these subjects.

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.

This qualitative study investigated the positive and negative outcomes of a home-based strength-training programme for young people with cerebral palsy (CP). Eleven young people with spastic diplegic CP (seven females, four males; mean age 12 years 9 months, SD 2 years 10 months; range 8 to 18 years) and their parents were interviewed. Gross Motor Function Classification System scores ranged from I (walks without limitations) to III (walks with assistive device), with a mode of III. The strength-training programme, which was conducted in the participants' homes three times per week for 6 weeks (total of 18 prescribed sessions), comprised three exercises targeting the major support muscles of the lower limbs. Exercises were bilateral half squats, heel raises, and step-ups. The training load was increased by adding free weights to a backpack so that 8 to 10 repetitions of each exercise could be performed. Using thematic coding, three categories of outcome emerged: body function and structure, activity, and participation, which were influenced by environmental and personal contextual factors. The programme generated overwhelmingly positive outcomes with only minor negative responses about some equipment and the need for parental involvement. Benefits included perceptions that strength, flexibility, posture, walking, and the ability to negotiate steps had improved. In addition, participants reported psychological benefits such as a feeling of increased well-being and improved participation in school and leisure activities. The contextual factors highlighted the fact that sufficient clinician resources must be allocated to solve individual exercise and equipment problems. As well as providing further evidence that strength training can be beneficial, this study provides useful indicators to guide future quantitative studies of outcomes that are meaningful for people with CP.

Clinical data on Duchenne muscular dystrophy (DMD) are lacking in developing countries. The objective of this study was to delineate the demographic characteristics, investigations, and outcome of 21 Malaysian males diagnosed with DMD over a period of 10 years. Mean age presentation was 3 years 8 months (SD 23mo; range 10 to 84mo), mean duration from first presentation to diagnosis was 3y 7mo (SD 26mo; range 5 to 84) and the mean age for loss of ambulation was 11 years (SD 25mo; range 102 to 168). There was family history of DMD in five of the 21 patients. Muscle biopsy showed confirmatory findings of DMD in the 16 patients tested. Molecular genetic analysis showed dystrophin gene deletions in 11 of these 16 patients. Four and seven of the students stopped schooling and had learning difficulties, respectively; only nine had satisfactory school performances. Eight out of 14 patients evaluated were classified as having severe to total dependency levels on the modified Barthel Index for activities of daily living assessment. DMD is associated with significant medical and social needs for a developing country such as Malaysia. Earlier referral, genetic counselling, and provision of support and rehabilitative services are the main priorities.

No area of developmental neurology is more complex than the specific learning disorders (SLD): the terminology is a morass; the epidemiology, in consequence, is extremely difficult; diagnosis is a problem due to changing symptomatology with age (3-year-olds can't be dyslexic or can they?); the extent to which investigations are initiated is financially and biologically controversial; and management may range from pharmacotherapy to educational strategies through to alternative therapies. Because these children very clearly attract the attention of educationalists and health professionals, they often fall into a divide where neither professional is fully involved. Many clinicians report that they frequently see children in late childhood/early adolescence where the biological background to a SLD has not been identified, resulting in behaviour disturbances which may be criminal.

Pain frequency and its association with participation, function, and health-related quality of life were evaluated in a sample of 198 children (58% male; mean age 10 years 7 months, SD 3 years 11 months; range 5 to 18 years) with moderate to severe cerebral palsy (CP). Gross Motor Functional Classification System (GMFCS) levels were III to V (23% level III, 23% level IV, 31% level V without a gastrostomy tube, and 23% were level V with a gastrostomy tube). Assessment was carried out using the parent-report Child Health Questionnaire (CHQ) and questions assessing health, medical utilization, and medication use. Pain frequency ranged from ‘none’ to ‘every day’. Eleven percent of parents reported pain almost every day (z score=–0.38, p<0.001). Pain was related to severity of motor impairment and the presence of a gastrostomy; parents of the most severely affected children reported the highest pain frequency (p=0.05). Pain was correlated with school days missed (p=0.03) and days in bed (p=0.01). Children taking gastrointestinal medications were reported to have greater pain frequency (p<0.001). The Parental Impact – Emotional subscale of the CHQ was correlated with reported pain (r=0.38, p<0.001). Pain was frequent in children with moderate or severe CP. Pain was more prevalent with more severe impairment and was associated with educational and social consequences.

Attention-deficit–hyperactivity disorder (ADHD), while largely thought to be a genetic disorder, has environmental factors that appear to contribute significantly to the aetiopathogenesis of the disorder. One such factor is pretern birth with vulnerable cerebrovascular homeostasis. We hypothesised that cerebral ischaemia at birth could contribute to persistent deficient dopaminergic neurotransmission, which is thought to be the pathophysiological basis of the disorder. We examined dopamine D2/3 receptor binding with positron emission tomography (PET) using [11C] raclopride as a tracer, and continuous reaction times (RT) with a computerized test of variables (TOVA) in six adolescents (12–14 years of age, one female) who had been examined with cerebral blood flow (CBF) measurements at preterm birth and had a subsequent history of attention deficit. We found that high dopamine receptor availability (‘empty receptors’) was linked with increased RT and RT variability, supporting the concept of a dopaminergic role in symptomatology. High dopamine receptor availability was predicted by low neonatal CBF, supporting the hypothesis of cerebral ischaemia as a contributing factor in infants susceptible to ADHD.

Turner syndrome, a genetic disorder that results from the complete or partial absence of an X chromosome in females, has been associated with specific impairment in visuospatial cognition. Previous studies have demonstrated a relationship between parietal lobe abnormalities and visuospatial deficits in Turner syndrome. We used high-resolution magnetic resonance imaging to measure parietal lobe subdivisions in 14 participants with Turner syndrome (mean age 13 years 5 months, SD 5 years) and 14 age-matched controls (mean age 13 years 5 months, SD 4 years 7 months) to localize neuroanatomical variations more closely. Scans were acquired and analyzed for 14 females with Turner syndrome. Analyses of variance were used to investigate differences in regional parietal lobes. Females with Turner syndrome showed a bilateral parietal lobe reduction, specifically in the superior parietal and postcentral gyri. Full-scale IQ scores were significantly positively correlated with postcentral tissue volume in the Turner syndrome group. Structural differences in the parietal lobe are localized specifically to the anterior and superior parietal lobe and might be related to the visuospatial and visuomotor deficits associated with Turner syndrome.