The purpose of this study was to describe functional ability, muscle strength, forced vital capacity, and clinical events in participants with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA) in the non-ambulatory stages of the diseases. Nineteen non-ambulatory participants with DMD (all males; 13 to 24 years) and 13 with SMA (six males, seven females; 11 to 57 years) were assessed once a year over 5 years. The assessments comprised functional ability measured with the EK scale and upper extremity grade, muscle strength measured with the manual muscle test, and forced vital capacity defined as a percentage of normal values (FVC%). In the DMD group all variables measured deteriorated and there was a direct correlation between them. In the SMA group only muscle strength and FVC% deteriorated and there was no close relation between the variables measured. In the DMD group, 16 participants had cardiorespiratory clinical events leading to death in five cases. In the SMA group only four participants had respiratory clinical events, none leading to death. Although the participants with SMA had been extremely weak and non-ambulatory since early childhood they were older and less exposed to life-threatening events than the participants with DMD.

We previously suggested that antenatal pestivirus infection might play a role in the pathogenesis of perinatal brain white matter damage (WMD) in preterm infants. We have now examined 22 brains from stillborns and deceased newborns (both preterm and term) for the presence of bovine virus diarrhoea virus (BVDV) antigen. The brains of five females and five males with WMD (median gestational age 36.5wks), and nine female and three male controls (median gestational age 36.5wks) were used in the study. No BVDV antigen was detected in any of the 22 brains. We conclude that brain infection with BVDV is unlikely to play a role in WMD pathogenesis among preterm or term newborns. Further research is needed to test the hypothesis that intrauterine exposure to pestivirus antigen elicits a fetal inflammatory response which then contributes to WMD.

Humankind has always been fascinated by the concept of depicting and recording human motion. During the Renaissance, Giovanni Alfonso Borelli, a student of Galileo, was among the first scientists to analyse motion while developing his theory of muscle action based upon mechanical principles. Early static interpretations of morbid anatomy by Da Vinci and Vesalius were ‘brought to life’ by the discovery that electricity caused muscle activity, as described by Luigi Galvani in 1791. The first scientific, systematic evaluation of muscle function was conducted by Duchenne who described the function of individual muscles of the human body in a monumental work, Physiologie des Mouvements, published in 1867.

The aim of the present study was to analyze the ability to programme and execute reaching movements in individuals with myelomeningocele (MMC) and in a control group. Thirty-one participants (18 males, 13 females; mean age 12 years 11 months, SD 2 years 7 months, range 9 to 19 years) with MMC and 31 participants (matched for age and sex) without disabilities were investigated. Reaching was performed with and without visual feedback toward three targets displayed on a computer screen and data were collected using a digitizing tablet linked to a computer. The kinematics of reaching were analyzed and analysis of variance was used for statistical analysis. Results showed that both groups were able to programme reaching movements under both visual conditions. Although the execution of reaching was poor in the MMC group compared with the control individuals, as indicated by larger end-point errors (p=0.002), less straight movements (p=0.018), and shorter deceleration phases (p=0.004), movement time was not prolonged in the MMC group. Those with shunt treatment (n=21) had more difficulties when visual feedback was provided. Those with symptoms of early brainstem dysfunction (n=5) had shorter deceleration phases under both visual conditions.

We report the case of a male aged 2 years 6 months with left temporal lobe epilepsy who presented with ictal bradycardia syndrome leading to asystole. The clinical presentation was remarkable for the occurrence of clustering syncope. A seizure was recorded on a video electroencephalogram– electrocardiogram and analyzed. A cardiac pacemaker was implanted and antiepileptic drug treatment was initiated. We suggest that clustering of syncope is an important feature in the presentation of epilepsy in a young child.

According to previous case reports, some congenital abnormalities (CAs) of the brain, such as microcephaly, are a result of intrauterine herpes simplex virus infection. A population-based case–control study was conducted to determine the risk of neural tube defects (NTDs) after maternal herpes labialis infection during pregnancy. Data were taken from the Hungarian Case–Control Surveillance of Congenital Abnormalities from 1980 to 1996, which included 1202 children with NTDs and 21641 comparison children with CAs other than NTDs. The adjusted relative risks (odds ratio [OR]) for NTDs associated with maternal herpes labialis in the first trimester of pregnancy was OR 1.19 (95% confidence interval [CI] 0.68–2.06), and in the entire pregnancy was OR 0.94 (95% CI 0.61–1.44). Self-reported maternal herpes labialis during pregnancy was not associated with a substantially increased risk of NTDs in infants.

We report on two sisters with a childhood-onset form of predominantly axial dystonia with marked diurnal fluctuations. Onset of clinical features was at approximately 6 years of age. Associated features included marked fatigue, slight facial dysmorphism, short stature, obesity, and learning disability. Dystonia and fatigue responded to 3,4-dihydroxyphenylalanine (DOPA) therapy, with recurrence of symptoms upon withdrawal; the efficacy has been maintained over 7 years. Other symptoms were not influenced. There was no other case in the family (which included an older, healthy brother), except for non-specific fatigue without dystonia in the mother, and there was no significant family history except for obesity on the father's side. These observations are discussed in relation to the classical descriptions of Segawa syndrome, and to more recent reports of childhood onset, age-related, and transient benign paroxysmal tonic upgaze and ataxia. The combination of symptoms, their sensitivity to DOPA, and their persistence throughout childhood constitute, to our knowledge, a new clinical entity, which we propose to categorize as a DOPA-sensitive dystonia-plus syndrome.

The aim of this study was to evaluate the correlative value of magnetic resonance imaging (MRI) in children with periventricular leukomalacia (PVL) for neurodevelopmental outcome. MRI examinations of 89 children (46 males, 43 females) with PVL (median age 4y, range 1 to 14y) were reevaluated. PVL was graded as follows: grade I, unilateral or bilateral areas of periventricular hyperintensity (1–3); grade II, hyperintensity more than 3; grade III, hyperintense lesions more than 3 and ventricular wall irregularity; grade IV, diffuse PVL and ventricular dilatation. Localizations of PVL and brain abnormalities associated with PVL were also noted. Assignment to PVL grades on MRI was as follows: PVL I (n=22), PVL II (n=18), PVL III (n=30), and PVL IV (n=19). Cerebral palsy was slightly less common in children with PVL I and II compared with PVL III to IV. Motor function was normal in 50% of children with PVL grade I, but severely impaired in 73.7% of children with PVL grade IV. Results of visual function were normal in all with PVL I, but pathological in 42.1% of patients with PVL IV. Developmental tests were appropriate for age in 75% of patients with PVL I, but significantly delayed in all patients with PVL IV. Thinning of the corpus callosum and presence of cortical atrophy were also correlated with neurological outcome. Significant risk factors associated with developmental delay were asphyxia at birth (odds ratio [OR] 4.3), PVL localization numbers over 3 (OR 4.4), PVL III to IV (OR 15), thinning of corpus callosum, and cortical atrophy.

A female aged 12 months with developmental delay and left-sided reverse ocular bobbing (rapid deviation of the eye upward and a slow return to the horizontal position) was observed. At birth, an upper left gingival mass, pathologically diagnosed as a benign granular cell tumour, was removed. On computed tomography (CT), left middle cerebral pedincular and midpontine lesions were seen. Magnetic resonance imaging revealed additional white matter hamartomas, corticosubcortical tubers, and subependymal nodules. The patient was re-examined at 36 months. Her general developmental quotient was equivalent to 23 months of age. Third cranial nerve functions and auditory brainstem response were normal. Her abnormal eye movements were still present. Reverse bobbing is usually observed in patients who are unconscious and who have significant pontine pathology and disruption of the reticular formation. This case is the first tuberous sclerosis-related ocular bobbing case to our knowledge and is interesting as the causative lesion was relatively mild, and ocular horizontal movements were preserved.

A girl with partial lipodystrophy is described presenting with muscle weakness and developmental delay several years before lipoatrophy became apparent. The patient subsequently developed epilepsy, fatty liver, secondary amenorrhoea, hirsutism, insulin-resistant diabetes mellitus, hyperlipidaemia, and hypothyroidism. She remains weak with poor exercise tolerance. This case illustrates an atypical presentation of the Barraquer–Simon syndrome.

Three groups of children with communication disorders were examined using a series of psycholinguistic markers to explore whether the tasks could identify children with impairments other than specific language impairment (SLI), and to examine whether the different groups within this clinical population could be distinguished reliably from one another. The groups comprised children with autistic spectrum disorders (ASD; n=13, all males; mean age 10 years 10 months, range 10 years 2 months to 12 years 6 months); children with primary pragmatic language impairment (PLI) but who did not have definite ASD diagnoses (n=25, 22 males, three females; mean age 11 years 3 months, range 10 years 2 months to 12 years 5 months); and children with specific language impairment (SLI) without marked pragmatic language difficulties (n=29, 25 males, 4 females; mean age 10 years 10 months, range 10 years 2 months to 11 years 9 months). Clinical markers examined were: the Children's Non-Word Repetition (CNRep), the Past Tense Task (PTT), and the Clinical Evaluation of Language Fundamentals, Recalling Sentences. First, it was found that the a priori groupings were not sufficiently defined and that four groups were actually present. The PLI group was in fact two separate samples: those with PLI pure and those with some autistic-like behaviours (referred to here as PLI plus, following Bishop 1998). Second, group comparisons indicated that CNRep was significantly lower for children with SLI than all other groups (although this measure was not such a good discriminator using a specificity analysis). Third, the markers were able to discriminate between all types of communication impairment in normal control participants (n=100; 51 females, 49 males; mean age 11 years, range 10 years 5 months to 11 years 6 months) with sensitivity levels of at least 75% and specificity of 80%. Recalling Sentences was the most efficient marker for all groups. Finally, analysis showed that children with PLI plus could be accurately distinguished from all others, scoring most favourably overall on communication markers and on performance IQ scores.

Victimization by peers affects 10 to 20% of school children under the age of 12 years. Physical, verbal, and psychological victimization (being pushed, hit, called names, teased, being the target of rumours, theft, extortion) is associated with short- and long-term adjustment problems, such as peer rejection, social withdrawal, low self-esteem, anxiety, loneliness, and depression, as well as academic problems and school drop-out. Research on populations of school children (primary and secondary) has associated victimization with personal risk factors (the victim's characteristics and behaviour) and interpersonal risk factors (social relationships between peers). Studies on the social adjustment of preterm children at school age show that, even in the absence of a major motor or cognitive disability, this population has several personal risk factors associated with victimization. The objective of this study was to compare the level of victimization experienced by a group of 96 seven-year-old children born extremely preterm (EP, <29 weeks of gestation; 49 females) against that experienced by a group of 63 term children (34 females) matched for age and sex, maternal level of education, and family socioeconomic status. The children born EP had a mean gestational age of 27.3 weeks (SD 1.2) and a mean birthweight of 1001.1g (SD 223) and normal birthweight children had a mean gestational age of 39.5 weeks (SD 1.5) and a mean birthweight of 3468.7g (SD 431). Physical and verbal victimization were assessed in a school setting by peers with individual sociometric interviews (Modified Peer Nomination Inventory). After controlling for physical growth (height and weight) at the age of 7 years, the data indicate two independent effects: males were more victimized than females, and children born preterm experienced more verbal victimization by their peers than their term classmates, even when participants with a visible motor, intellectual, or sensory disability were excluded. Several hypotheses are presented to account for the higher incidence of verbal victimization of preterm children.

The aims of this prospective study were (1) to examine whether quantitative and/or qualitative aspects of motor performance in 5- to 6-year-old children can predict attention-deficit–hyperactivity disorder (ADHD) 18 months later; (2) to investigate whether this relation is also present in oppositional defiant disorder and conduct disorder (ODD/CD). Quantitative and qualitative aspects of motor performance were tested in a selected community sample (n=401; 232 males, 169 females; mean age 6 years 4 months, SD 6 months, range 5 years 4 months to 7 years 11 months) using the Maastricht Motor Test. Eighteen months later, standardized psychiatric information was obtained with the Amsterdam Diagnostic Interview for Children and Adolescents: 35 children were classified as having ADHD, and 92 children as having ODD/CD. Weighted analyses were used in logistic regression analyses to investigate predictive values. Unlike quantitative aspects of motor performance, qualitative aspects were predictive of ADHD. Motor performance was not predictive of ODD/CD.

Depression is rare in early childhood and unusual in autism in this age group. We describe a female child aged 6 years with autism who presented with regression of developmental skills previously gained. Her sleep and appetite were poor, her affect was sad, and she had morbid speech content. She responded to treatment with antidepressant medication. When this clinical picture occurs in adults it is called depressive pseudodementia; paediatric neurologists and neuropsychiatrists need to be aware of it in children.

We investigated in children with attention-deficit–hyperactivity disorder (ADHD) the ability to programme and execute goal-directed arm movements. The sample consisted of 25 males with ADHD (mean age 11 years 6 months, SD 1 year 11 months, range 8 to 15 years) and 25 age-matched typically developing males. The children moved a cursor on a screen by moving a hand-held indicator on a horizontal digitizing tablet. Start and target positions on the screen were always visible during the movement. The screen cursor, however, could either be visible throughout the movement (visual feedback) or blanked at movement initiation (without visual feedback). Analysis showed that movement control was impaired in children with ADHD and that their problems were especially pronounced during the without-visual-feedback condition. In this condition, the children with ADHD exhibited large end-point errors and prolonged movement durations. As there can be no visual corrections of the movement during this condition, results indicate poorer motor programming in children with ADHD. Moreover, children with ADHD performed jerky movements and showed a reduced capacity to select a movement speed that met with the accuracy demands of the movement.