Injury to the developing cortical plate can result in a variety of neuronal migration disorders. The results are reported of experimental research aimed at determining whether these different types of neocortical malformations are the consequence of comparable injury of varying intensity. Freezing probes were placed on the skulls of 44 newborn rats (age equivalent to 4 to 5 months of gestation in humans) and induced either one or two freezing injuries of durations ranging from 2 to 20 seconds. A variety of cortical malformations including minor laminar dysplasias, molecular layer ectopias, microgyria, and porencephalic cysts were seen in the brains of these animals when they were examined on postnatal day (P)2, P21, and P60. The severity of the malformation was directly related to the strength (number of hits and duration) of the freezing injury. These results suggest that a single etiologic event of varying severity during neuronal migration to the neocortex can induce widely disparate malformations of the cortex.

To compare the functional maturation of the human visual system between intra- and extrauterine course flash visual evoked potentials (VEPs) in preterm infants (gestational age 24 to 36 weeks). Previously established normal values, with special reference to the two components of the N1 wave, were employed (Tsuneishi 1995). A cross-sectional analysis of 124 infants at 36 weeks postmenstrual age (PMA), showed that there are no differences in the absolute values of VEP peak latencies depending on the postnatal age (PNA). Conversely, the N1 wave form changes with increasing PNA from a wave in which the early peak (N1a) has a higher amplitude than the late peak (N1b) into the reverse situation with a higher amplitude of the N1b as compared to N1a. This observation may correlate with the maturation of the neuronal networks in the visual cortex. In a longitudinal analysis of 50 infants followed for more than 5 sessions of weekly recordings, we found that the individual rapid decrease in the N1a latency, which may reflect the initiation of myelination in the optic radiation, most frequently occurs at around 37 weeks PMA, regardless of PNA. Preterm extrauterine visual experience has little effect on the myelination process in the visual pathway, but has a marked effect on the developmental changes in VEP wave form which reflect the developmental changes of the neuronal networks in the visual cortex.

The aim of this study was to apply the International Classification of Impairments, Disabilities and Handicap (ICIDH; WHO 1980) parallel to the Gross Motor Function Classification System (GMFCS; Palisano et al. 1997) in a population-based series of children with cerebral palsy (CP). Of the 116 children studied, birth characteristics, data on gross motor function, and level of handicap at 5 to 6 years of age, were retrospectively collected from medical records and documentation made by rehabilitation team members. Low handicap scores and mild levels of gross motor disability were present in children with hemiplegic CP, moderate scores in children with diplegic CP, simple ataxia, and athetotic CP, and high scores in children with dystonic CP and tetraplegic CP. A significant correlation was found between high handicap scores as well as high levels on the GMFCS and the presence of learning disability, epilepsy, and obvious aetiology of CP. A strong correlation was found between the handicap code and the GMFCS, the strongest concerning the dimension of mobility (r=0.95, p<0.0001). A striking similarity in the grading of disability was present between the ICIDH handicap code and the GMFCS. The GMFCS is considerably less time-consuming and can be evaluated retrospectively. The handicap code requires more detailed information and is more useful for a comprehensive profile of the child.

The aim of this study was to estimate the prevalence and severity of feeding and nutritional problems in children with neurological impairment within a defined geographical area. In a cross-sectional study, a validated questionnaire was sent to 377 parents of children (aged 4 to 13 years) on the Oxford Register of Early Childhood Impairments with oromotor dysfunction. The return rate was 72%. Of these, 93% had cerebral palsy; 47% were unable to walk; 78% had speech difficulty; and 28% continuous drooling of saliva. Gastrointestinal problems were commonly encountered: 59% were constipated; 22% had significant problems with vomiting, and 31% had suffered at least one chest infection in the previous 6 months. Feeding problems were prevalent: 89% needed help with feeding and 56% choked with food; 20% of parents described feeding as stressful and unenjoyable. Prolonged feeding times (3h/day) were reported by 28%. Only 8% of participants received caloric supplements and 8% were fed via gastrostomy tube. Even though 38% of respondents considered their child to be underweight, 64% of children had never had their feeding and nutrition assessed. The results highlight that feeding problems in children with neurological impairment are common and severe, causing parental concern. Many of these children would benefit from nutritional assessment and management as part of their overall care.

The introduction of advanced assisted reproduction technologies (ART) has created opportunities for the treatment of infertility among patients with myelomeningocele (MMC). The aim of this study was to assess the possibility of semen retrieval and to analyse the semen quality in men with MMC. Nine men, aged 22 to 39 with MMC participated in the study. Two participants were able to achieve unassisted ejaculation. Vibratory stimulation was unsuccessfully attempted in the remaining seven participants who then underwent electroejaculation under general anaesthesia. In total, enough spermatozoa for intracytoplasmic spermatozoa injection were retrieved from five participants. In four cases, no spermatozoa were observed in the ejaculates. Testicular biopsies, however, revealed spermatogenesis, and thus a reproductive potential, in one of these men. Therefore, in six of the nine men with MMC, fatherhood seemed possible with modern ART, despite the semen quality generally being very poor.

In order to validate the movement problems in daily life for girls with Turner syndrome (TS), as reported by teachers, parents, and the girls themselves, we examined whether these girls have impaired motor ability and a specific pattern of motor impairment. As TS phenotypes are characterized by a particular profile of normal Verbal IQ (VIQ) and lowered Performance IQ (PIQ), we investigated whether there is a significant correlation between intelligence scores and motor performance scores. Fifteen girls with TS (age range 5.8 to 12.5 years), of whom nine had 45XO karyotype and six girls mosaic karyotype, were individually tested on the Movement Assessment Battery for Children (MABC; Henderson and Sugden 1992, Smits-Engelsman 1998), and the Wechsler Intelligence Scale-Revised (WISC-RN; Vander Steene et al. 1986). Mean percentile score on the MABC was 2.93 (range 1 to 8). Based on the total score of the MABC, none of the girls with TS fell into the ‘normal’ range; five patients were classified as ‘at risk’ and 10 as ‘impaired’. Girls with TS made more errors and needed more time across all items tested; no specific profile of impairment was observed and no significant correlation between intelligence scores and motor performance scores was found. The results clearly demonstrate that girls with TS indeed experience a significant general motor impairment. The motor problems apparently cannot be attributed to cognitive problems.

This cross-sectional study describes oral health problems in a sample of children with Down syndrome (DS) compared with their siblings. Data were collected using the Oral Assessment – Down Syndrome questionnaire, a validated French language evaluation to be completed by the child's carer. Parents attending a national meeting anonymously answered a questionnaire for their child with DS and for the sibling closest in age and returned their replies by post. Data concerning 204 individuals with DS (103 males, 101 females; mean age 9.6 years) and 161 of their siblings (80 males, 81 females; mean age 11.8 years) were returned. The association between DS status, age, and oral health was analysed. There was a greater frequency of oral health problems in those with DS with regard to function, clinical signs, disability, and development. The prevalence of chewing problems did not improve with age, the prevalence of bleeding gums and mouth breathing increased with age, and that of tongue protrusion reduced with age. Most parents rated the general and oral health of their children with DS highly, although worse than for their siblings.

Paroxysmal kinesigenic choreoathetosis (PKC) is a rare movement disorder, characterized by recurrent, brief involuntary dystonic attacks that are provoked by sudden movements. Pathophysiology is uncertain, but a channelopathy is discussed. Treatment recommendations favour antiepileptic drugs (AEDs) acting on voltage-gated neuronal ion channels. This report summarizes the history of three children (6, 8, and 10 years of age) with idiopathic PKC successfully treated with low doses of lamotrigine, an AED acting primarily via neuronal voltage-sensitive sodium channels.

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.

A rare case of visual loss as the presenting feature of a central arteriovenous malformation involving the vein of Galen is reported. A 5-year-old girl with a history of deteriorating vision for the past 6 months was examined. Ocular examination showed a left hemianopia, left optic atrophy, and dilated vessels of the right optic disc. MRI revealed a massive deep-seated central arteriovenous malformation involving the vein of Galen. The mechanism of visual loss is likely to be a combination of ischaemic optic atrophy associated with a steal phenomenon and direct compression of the right optic radiation.

There are two major forms of developmental motor disorders: cerebral palsy (CP) and clumsiness. CP is an umbrella term covering a group of non-progressive, but often changing, motor impairment syndromes secondary to lesions or anomalies of the brain arising in the early stages of development. It affects about 1 in 500 live-born children. Clumsy children nowadays are classified according to DSM-IV as having developmental coordination disorder (DCD), a term denoting children who have such poor motor coordination that it affects daily activities at home and at school, but with normal intelligence and without obvious neurological pathology. The prevalence of DCD is about 10% (6 to 13%). The understanding of the motor problems in both groups of children is hampered by the large heterogeneity within each group. In both groups children differ in the expression of their motor dysfunction, in comorbidity such as the presence of cognitive and behavioural disorders, and in aetiology. In addition, the relation between the various motor disorders and the structural abnormalities of the brain is far from simple. CP is, by definition, attributed to lesions or anomalies of the young brain, but the abnormalities of the brain cannot always be visualized with imaging techniques. Despite there being some relation between lesions of the periventricular white matter and spastic diplegia, and between unilateral lesions and spastic hemiplegia, the site of the lesion does not correlate exactly with the type of motor dysfunction. In children with DCD the connection between structural abnormalities of the brain and motor dysfunction is still more ambiguous. Recently Hadders-Algra and Touwen argued that indications for pre- and perinatal brain damage can be found only in one third of children with minor motor dysfunction. This could imply that most clumsy children do not have macroscopic anomalies of the brain, but dysfunctions at the microscopic level of the nervous system, with abnormalities in the neurotransmitter or receptor systems, for example.