Functional outcome and provision of care to 82 children (males: females 2.7:1; age range 0 to 16 years) with severe head injury were investigated. The children were admitted to the intensive care units of the Regional Neuroscience Units of the Greater Manchester and Lancashire districts of the North West Region of the UK between 1994 and 1996. A questionnaire was devised based on 12 areas of recovery and data were collected at discharge and 6 weeks, 6 months and 12 months from discharge. Data were collected during home visits and at joint assessment at 12 months with the district consultant community paediatrician (CCP). Early involvement of the CCP enhanced the provision of needs at discharge and 6 weeks after discharge, as did a period of stay in district-level care before discharge home. CCPs received formal notification of the injured child in only 32% of cases by discharge, and 54% of cases by 6 months. Sixty-five per cent of children required early educational support but structured help reached only 55% of these children by the end of the study. Integrated planning between health and education was achieved in about half of the study population. Good physical recovery was achieved by the majority of children but parents said they did not feel prepared for the degree of help which their child still required 12 months after discharge. Children who required anticonvulsants at 12 months' follow-up scored significantly lower on cognitive potential. Psychosocial family functioning deteriorated in a substantial number of families according to parental perception. Prevalence of this perception did not diminish over the study period. Aspects of caregivers' understanding and the child's language deficits, self-care skills, fine and gross motor performance, as well as family, social, and financial consequences were assessed. A dedicated and integrated approach to assessment and provision of care across the domains of hospital, education, and community is discussed.

This study examined the effect of low birthweight on school achievement and the mediating roles of cognitive and behavioural factors. The sample (115 females, 100 males) was selected from a longitudinal study of first-born singleton children, born between 1986 and 1988 of German-speaking parents, recruited from eight hospitals of the Rhine–Neckar region in Germany. Twenty-nine very-low-birthweight (VLBW; less than 1500g), 74 low-birthweight (LBW; 1500 to 2500g) and 112 normal-birthweight children (NBW; more than 2500g), all without severe neurological disability, were assessed at 11 years on cognitive, motor, scholastic, and behavioural measures. The scholastic measures included a school performance score and a teacher recommendation for type of secondary school the child should attend. LBW and VLBW children performed less well than the NBW group in all areas. LBW and VLBW groups remained at risk for school difficulties into late childhood, even when not neurologically impaired. Arithmetic, vocabulary, concentration, non-verbal intelligence, and attention problems were significant mediators of the effect of low birthweight on the school performance score. Arithmetic, vocabulary, motor skills, and attention problems were found to be mediating factors of birthweight on teacher's recommendations. The poor outcome of the low birthweight children could not be attributed to further obstetric risk factors. Parents and pediatricians should be made aware of specific long-term deficits of low birthweight children that may impair school performance, although they may be within a normal curriculum.

Monozygous twin births have been associated with brain lesions such as hydranencephaly, multicystic encephalomalacia, and porencephaly. Prenatal circulatory injury has been considered to be the cause. Polymicrogyria is rare but has been reported in autopsied cases. The sibship in this case report, comprising monozygotic male twins and their elder sister from the same non-consanguineous parents, all had global developmental delay. Brain MRI showed polymicrogyria. We suggest that, apart from circulatory compromise, genetic etiology must be implicated as the cause of polymicrogyria.

There is a broad consensus that language is, in most right-handers and in a substantial part of left-handers, controlled by the left hemisphere. This seems to be, at least in part, genetically determined, as neuroanatomical asymmetries have been observed already prenatally (e.g. a larger left planum temporale). Left hemisphere lesions in adolescents and adults accordingly lead to persistent language deficits. However, this is not the case in lesions acquired prenatally or in early childhood.

The study aimed to evaluate the effect of low-intensity night-time therapeutic electrical stimulation (TES) on arm strength and function in children with intermediate type spinal muscular atrophy (SMA). The design was a randomized controlled trial with a 6-month baseline control period. Children were evaluated at baseline, 6, and 12 months. TES was applied from 6 to 12 months to the deltoid and biceps muscle, of a randomly selected arm with the opposite arm receiving a placebo stimulator. Thirteen individuals with SMA between 5 to 19 years of age were recruited into the study and eight completed the 12-month assessment. No statistically significant differences between the treatment and control arm were found at baseline, 6, and 12 months for elbow flexors, or shoulder abductors on quantitative myometry or manual muscle testing. There was no significant change in excitable muscle mass assessed by M-wave amplitudes, nor function on the Pediatric Evaluation of Disability Inventory (self-care domain). Therefore, in this study there was no evidence that TES improved strength in children with SMA.

Congenital paraplegia, with partial improvement over the first months of life, occurred in a female neonate born at 35 weeks' gestation, whose mother had suffered hypotension and hypoxaemia due to anaphylaxis 12 weeks earlier. Our patient subsequently had an acute encephalopathy during a respiratory illness with later developmental delay. We speculate that the baby's paraplegia resulted from spinal-cord ischaemia in utero. The aim of this report is to describe the spinal presentation.

The purpose of this study was to investigate the use of the heart-rate (HR) version of the energy expenditure index (EEIHR) as a proxy for measurement of walking oxygen consumption (VO2) in children with cerebral palsy (CP). Thirteen children (eight males, five females; mean age 11 years 2 months [SD 3 years], age range 6 to 15 years) with hemiplegic CP, participated in this study. The study was conducted over three sessions. During session 1, participants were familiarized with testing procedures and given 5 minutes of treadmill walking practice. In session 2, participants completed three 5-minute walking bouts on the treadmill at 0.67m·s-1 to familiarize themselves with treadmill locomotion. During the final session participants walked at 0.67, 0.89, and 1.12m·s-1 for 5 minutes while gross oxygen consumption (gross VO2; walking VO2/speed), net VO2 ([walking VO2–resting VO2]/speed), and EEIHR ([walking HR–resting HR]/speed) were measured during the last 2 minutes of each bout. Correlational analyses indicated no relationship (p>0.05) between measures of gross VO2 and EEIHR at each speed. Although no association was evident between net VO2 and EEIHR at 0.67 and 0.89m·s-1, a moderate relationship (r=0.64; p<0.05) was present between these variables at 1.12m·s-1. Examination of individual data revealed that most participants displayed an unmatched pattern of response between net VO2 and EEIHR. Our results suggest that caution should be applied when using EEIHR to estimate walking energy expenditure in children with CP.

Disclosing a neurodevelopmental disorder to parents is always difficult, in spite of current training in this task. Regardless of how well trained we are, we will always find the task difficult and often worry we have got it ‘wrong’. However, I have found myself almost thanked when telling parents that their child still has a problem. Often these parents have sought a second or third opinion after being told their child was healthy.

There are, certainly, similarities between Worster-Drought and congenital bilateral perisylvian syndromes, and it may be that, if not entirely the same, there is a continuum between the two. There does seem to be some confusion in the literature and a better option could be to abandon both these terms and include them under the heading of suprabulbar paresis: congenital and acquired.

This study's aims were to determine: (1) prevalence of periodic leg movements (PLMs) in walking prepubertal children consulting a sleep clinic for any sleep disorder; (2) associations between PLMs and other sleep and medical disorders; and (3) the response of other sleep disorders to treatment with the dopamine agonist pramipexol. Clinical evaluation and polysomnography were carried out for a period of 12 months on 252 consecutively seen, prepubertal children with sleep disorders (156 males, 96 females; aged 15mo to 11y, mean 7y 1mo, SD3y 10mo). Sleep disorders unrelated to PLMs were treated, and six children received pramipexol for PLMs. Follow-up included clinical evaluation and polysomnography. Twenty-three per cent of children were diagnosed with PLMs on the basis of polysomnography. The presence of PLMs had usually been unrecognized clinically. The only clinical symptom that could be related to periodic limb movement disorder was a report of leg pains at morning awakening. Only two of 58 children had PLMs without other clinical or polysomnographic findings. Comorbidity seen with PLMs included neuropsychiatric syndromes (n=20), isolated sleep disordered breathing (SDB; n=29), and several other comorbid conditions (n=7). Seven of 11 children seen with attention-deficit–hyperactivity disorder also had PLMs. Surgery for SDB was associated with subsequent cessation of PLMs in 15 of 29 children. Five out of six children with PLMs who received pramipexol were able to tolerate the drug and experienced a complete disappearance of their PLMs. Presence of chronic fatigue, sleepiness, disrupted nocturnal sleep, and difficulties in falling asleep should lead to a systematic search for PLMs that is independent of associated syndromes. Isolated treatment of SDB might help eliminate some, but not all, PLMs.

Two individuals with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1α subunit (PDHA1) presented during childhood with dystonia. The first patient, a male, presented at age 4 years with dystonia affecting the lower limbs, which responded to treatment with combined carbidopa and levodopa. The second patient, a female, was first investigated at age 6 years because of a dystonic gait disorder. In both patients, the main clue to the biochemical diagnosis was a raised concentration of lactate in the cerebrospinal fluid. PDH activity was significantly reduced in cultured fibroblasts in both cases. Dystonia is a previously unrecognized major manifestation of PDH deficiency and is of particular interest as the mutations in the PDHA1 gene in these patients have both been identified previously in individuals with typical presentations of the condition.

A sample of 12 children (seven males, five females; mean age 6 years 7 months, SD 2 years 6 months, range 2 years 4 months to 12 years 1 month) with moderate-to-severe foetal alcohol syndrome (FAS) and another sample of 26 children (12 males, 14 females; mean age of 6 years 2 months SD 2 years 10 months, range 2 years 6 months to 12 years 8 months)with mild FAS or foetal alcohol effects (FAE) as well as a sample of 15 age- and sex-matched control children with unspecific intellectual disability were compared using the Developmental Behaviour Checklist (DBC). There were significant differences (p=0.01) between the groups on five of six subscales of the DBC with controls scoring lower on the disruptive, self-absorbed, anxiety, antisocial behaviour, and communication disturbance scales. The DBC profiles of the two foetal alcohol exposed groups did not differ from each other. It is concluded that quantitative behaviour measurement provides insights into specific behavioural phenotypes of FAS/FAE.

We know how important it is to diagnose epilepsy correctly, but how to do so is surprisingly little validated. An inadequate history and misinterpretation of the electroencephalogram (EEG) are the major reasons 4 to 26% of children and adults in European studies are misdiagnosed with epilepsy. Error rates are not available for most countries, or for more precise diagnoses of seizure types, epilepsy syndrome, and cause.

Monozygotic twin boys with fragile X syndrome underwent thorough genetic, psychiatric, neurological, and language evaluations at 10 years of age. They both demonstrated physical features, speech and language difficulties, social problems, and attentional deficits that characterize the behavioural phenotype of fragile X syndrome. Despite identical genetic constitutions, there were important developmental and behavioural heterogeneities. Twin A showed less social interaction and symbolic play and more speech and language dysfunction than twin B. Twin A also had significantly larger caudate volumes. It is suggested that the Xq27.3 anomaly may not be sufficient to account for all the behavioural phenotypic and neuroanatomical features of fragile X syndrome.

The purpose of this study was to determine whether electrical stimulation of the gluteus maximus would improve hip extensor strength, decrease excessive passive and dynamic internal hip rotation, and improve gross motor function in children with cerebral palsy (CP). Twenty-two ambulant children (15 females, 7 males, mean age 8 years 6 months, SD 2 years 9 months, aged 5 to 14 years) with diplegic (n=14), hemiplegic (n=7), and quadriplegic (n=1) CP participated in this study. All were randomly assigned to either the stimulation or control group. The stimulation group (n=11) received electrical stimulation of the gluteus maximus of the most affected legs for 1 hour a day, 6 days a week for a period of 8 weeks. Electrodes were applied proximally and distally over the gluteus maximus, with the active electrode initially positioned over the motor points. The control group (n=11) did not receive any extra treatment. Measurements of hip extensor strength, gait analysis, passive limits of hip rotation, and section E of the Gross Motor Function Measure were made before and after treatment for both groups. Subjectively, 7 of the 11 parents thought that the treatment made a difference to their child. However, no statistically or clinically significant improvement was found in the stimulation group when compared with the control group.