The aim of this study was to examine the comorbidity pattern, seizure characteristics, and aetiology in a representative group of children with a combination of autism spectrum disorder (ASD), active epilepsy, and learning disability. Ninety children (47 males, 43 females; mean age 11 years 2 months, range 8 to 16 years at the time of psychiatric examination) with active epilepsy and learning disability, identified in a population-based study in Göteborg, Sweden, were subdivided into those with and those without ASD and compared with respect to aetiology, additional neuroimpairments, and seizure characteristics. In addition, the cohorts were examined for trends of prevalence over a period of time. Results indicated that established aetiology was much more often present in the prenatal period than in the peri- or postnatal periods in the ASD group. Cerebral palsy and visual impairment were under-represented in the ASD group. Partial seizures tended to be more common and generalized seizures less common in the ASD group compared with the non-ASD group. Seizure onset was later in the ASD group. Many of the significant differences were accounted for by a large group of psychiatrically unclassifiable participants in the non-ASD group. There was no trend towards an increase of affected children over the 12-year period. There was no increase in the prevalence of active epilepsy and learning disability nor in the rate of autism with active epilepsy and learning disability in children born between 1981 and 1986 compared with those born from 1976 to 1980, indicating no statistical association with the general measles-mumps-rubella vaccination introduced in the early 1980s.

In the development of a new diagnostic motor performance test to spare more children from painful muscle biopsy, seven functional items were used to measure muscle strength and muscle endurance in a prospective study on new patients. Over a 2-year period, 22 patients (12 males, 10 females; mean age 8y 1mo [SD 2y 6mo], range 4–11y) were recruited for the study. They had all been referred with suspected myopathy. The motor performance test was administered before muscle biopsy. Validity of the seven items was assessed using logistic regression analysis and receiver operating characteristic (ROC) analysis. Two items were withdrawn from the test because they were not suitable for children aged 4 to 5 years. The five remaining items were: Heels, Circuit, Stairs, Jump, and Gowers. A full logistic regression model including these five items was fitted to the total population of 90 patients suspected of having myopathy (from this study and our previous study) to make the best prediction of whether myopathy was present. The ROC area under the curve of the diagnostic prediction model was 0.92 (95% confidence interval [CI] 0.87–0.98) and 0.89 (95% CI 0.87–0.92) after bootstrap correction. This indicated the high diagnostic power that can be expected for future, similar patients. This non-invasive and child-friendly motor performance test can improve diagnostic procedure and, therefore, spare more children from unnecessary muscle biopsy.

Outcome in 24 ambulant children with spastic diplegic cerebral palsy, in whom multilevel surgical intervention was recommended following gait analysis, is reviewed. Twelve children had surgical intervention (treatment group; eight males, four females; mean age 9 years 10 months, SD 3 years 4 months) while the other 12 did not (control group; five males, seven females; mean age 10 years 1 month, SD 2 years 11 months). All children had interval three-dimensional gait analyses (mean time between analyses: control group, 14.1 months; treatment group, 17.9 months). At follow-up the control group (mean age 11 years 9 months) showed a significant increase in minimum hip and knee flexion in stance which was not related to age, the interval between analyses, changes in the passive joint range of motion, nor changes in anthropometric measurements. The treatment group (mean age at follow-up 11 years 3 months) showed a significant improvement in minimum knee flexion and in ankle dorsiflexion in stance. Parents of nine children said their child's walking distance had increased following intervention. Of five children using posterior walkers preoperatively, two continued to use them postoperatively; two were using crutches or sticks and the remaining child walked independently. Two children who walked independently preoperatively used sticks postoperatively for community ambulation. The deterioration seen in the kinematics of the control group suggests that previous outcome studies comparing postoperative gait with preoperative gait have underestimated the immediate effects of surgery. It also raises concerns about the long-term effects of surgical intervention.

Colpocephaly is an abnormal congenital enlargement of the occipital horns of the lateral ventricles, which has typically been associated with learning disability, seizures, and motor and visual abnormalities. This study describes familial colpocephaly in two siblings with different fathers in a Dominican family. There were no other neurological problems in their relatives. Child 1 is a 7-year-old girl, who has had partial epileptic seizures since 4 years of age. She attends a mainstream school. She has coloboma and chorioretinic atrophy in her right eye and a right microphthalmia. MRI revealed colpocephaly and hypogenesis of the corpus callosum. Her brother, aged 2 years 8 months showed a mild delay in speech acquisition. He has had three febrile convulsions and two non-febrile tonic–clonic seizures since 6 months of age. Neurological and ophthalmological examinations were normal. MRI documented colpocephaly with right occipital horn prevalence. There are only two literature reports of genetically transmitted colpocephaly hypothesised in two identical twins and in two brothers. In the children in this study, a genetic basis for colpocephaly is confirmed. We hypothesised a maternal transmission with X-linked or autosomal dominance with an incomplete penetrance model of inheritance.

The aim of the study was to describe ocular motility in a sample of 56 patients affected by cerebral visual impairment (CVI) of hypoxic–ischemic origin. The sample consisted of 56 participants (37 males and 19 females), ranging in age from 2 to 16 years. In all cases CVI was associated with MRI-verified damage of the cerebral visual system. A complete ophthalmologic and neurological assessment was performed. Behaviour of gaze was studied in four conditions: during scanning of the surrounding environment, during fixation, execution of saccades, and pursuing. In addition, strabismus, nystagmus, and paroxysmal ocular deviations were evaluated. Ocular motility was studied by video recording the patients' eye motility during orthoptic examination. Each pattern of ocular motility studied revealed profound alterations in all the individuals examined. Typical features of ocular motility in CVI were: paroxysmal ocular deviations (present in 78%); the presence of variable angle strabismus (86%); and defective coordination of saccades (93%). Exploration of the environment and fixation were also impaired (88% and 84%, respectively). Disorders of initiation and performing saccades, absence of smooth pursuit, vergence abnormalities, nystagmus beats, instability of fixation, and difficulty in the systematic exploration of the environment were observed. These abnormalities characterize lack of gaze coordination found in children with brain damage. An early and detailed evaluation of ocular motility in individuals with CVI is important, especially when rehabilitation intervention is intended.

In order to assess patterns of usage of complementary and alternative medicine (CAM) in families of children with cerebral palsy (CP), 213 families with a child (0 to 18 years) with CP were recruited at the university medical center in Ann Arbor, MI, USA as part of a descriptive survey. Two hundred and thirty-five surveys were distributed. Mean age of the child was 8 years 6 months (SD 4y:9mo) and 56% of the sample was male with 35% full-time independent ambulators, while the rest used an assistive device or a wheelchair. Fifty-four percent were in special education classrooms. Families were given a survey on functional status of the child with CP, CAM usage of the child and the parent, factors influencing the decision to use CAM, demographics, and clinical information. Of the families, 56%, used one or more CAM techniques. Massage therapy (25%) and aquatherapy (25%) were the most common. Children of families that used CAM were significantly younger (7y:9mo, SD 4y:7mo) than non-users (9y:6mo, SD 4y:6mo: t-test p<0.01 two-tailed). Children with quadriplegic CP, with spasticity, and those who could not walk independently were more commonly exposed to CAM (Pearson's χ2 [Pχ2] p=0.01 two-tailed; for mobility, odds ratio [OR] of 2.5 with regression). Mothers with a college degree had a greater tendency to use CAM for their child than those without (Pχ2p=0.01 two-tailed). Fathers of children who used CAM were older than fathers of those who did not (37y:9mo versus 33y:2mo, p=0.04 two-tailed). There was no significant difference between groups for mother's age, father's education, income, or for population of home town. Parents who used CAM for themselves were more likely to try CAM for their child (70% versus 47%, OR 2.1), and were much more likely to be pleased with the outcome (71% versus 42%, OR 3.5). Child's age (younger), lack of independent mobility, and parental use of CAM were the most significant predictive factors identified via logistic regression.

The aim of the present study was to generate normal reference data for anterior and middle cerebral artery blood flow velocity and resistance index in preterm and term infants during the first 8 hours of life. The study population longitudinally included 120 healthy preterm and term infants (gestational age 24 to 41 weeks), all of appropriate weight for gestational age. The following parameters were studied: peak-systolic velocity, end-diastolic velocity, mean velocity, and resistance index. All parameters were measured in the anterior cerebral artery, in the left middle cerebral artery, and in the right middle cerebral artery with the use of Doppler colour ultrasonography. In addition, we studied the ratio of mean arterial blood pressure to mean velocity in the three cerebral arteries as a further estimate of cerebral relative vascular resistance. We found that cerebral blood flow velocities increased significantly with increasing gestational age and birthweight, both in the anterior cerebral artery and in the right and left middle cerebral arteries. Resistance index, both in the anterior cerebral artery and in the middle cerebral arteries, increased significantly only with increasing gestational age. Relative vascular resistance decreased significantly with increasing gestational age and birthweight in the three cerebral arteries. Significant differences were found (p<0.05) in these values between the anterior cerebral artery and the middle cerebral arteries. The narrow time frame (2 to 8 hours) that we used to evaluate cerebral blood flow velocity often represents a significant moment at which decisions are made that can be fundamental for the outcome of the newborn infant.

The purpose of this study was to evaluate effects of a progressive strength training programme on walking ability in adults with cerebral palsy. Ten individuals with spastic diplegia (seven males, three females; mean age 31, range 23–44 years) participated twice a week over 10 weeks. Seven individuals with spastic diplegia (four males, three females; mean age 33, range 25–47 years) who did not receive strength training served as controls. All individuals were ambulatory but motor ability ranged from functional walkers to individuals who always required walking aids and used a wheelchair regularly. Significant improvements were seen in isometric strength (hip extensors p=0.006, hip abductors p=0.01), and in isokinetic concentric work at 30°/s (knee extensors p=0.02) but not in eccentric work. Results also showed significant improvements in Gross Motor Function Measure (GMFM) dimensions D and E (p=0.005), walking velocity (p=0.005), and Timed Up and Go (p=0.01). There was no increase in spasticity for those who underwent strength training. Individuals in the control group did not show any significant improvement in any measured variable. The groups were small, however, and there was no significant difference between the groups in any measured variable. These findings suggest that a 10-week progressive strength training programme improves muscle strength and walking ability without increasing spasticity.

We report a female infant with status epilepticus amauroticus and intractable focal motor seizures associated with congenital cortical dysplasia. EEG demonstrated persistent epileptiform discharges over the right parieto-temporal regions extending to occipital areas. She required cortical resection of the epileptic zone at age 8 months given failure of very high dose antiepileptic combinations. Histological analysis of a sample of cortex resected from the right central parieto-temporal region, identified by electrocorticography as the focus of epileptic activity, showed cortical dysplasia. The seizures ceased and the infant gained full vision after 48 hours. During an 8-year follow-up period she has had a few short-lived seizures, currently controlled with carbamazepine and vigabatrin. Her cognition and speech are intact. This case demonstrates that: (1) resection of a central temporo-parietal focus, which may have spread to the occipital regions, may result in complete visual recovery and cessation of seizures; and (2) EEG should be considered in every infant with alleged delayed visual maturation, to rule out concealed epileptic activity.

The aims of this study were: (1) to perform the Amiel-Tison Neurological Assessment (ATNA) in a group of infants with different risk factors for brain damage; (2) to analyze the results of the examinations in light of the risk factors and presumed aetiology; (3) to compare results of examinations with results of cranial ultrasound, electroencephalography (EEG), and cerebral function monitoring (CFM); and (4) to evaluate neurological outcome at 12 to 15 months of age using the Amiel-Tison and Gosselin method, and developmental outcome using the Bayley Scales of Infant Development. Participants were 52 term, newborn infants (31 males, 21 females) with risk factors for brain damage. Mean birthweight was 3288g (SD 661g) and mean gestational age was 39.4wks (SD 1.2wks); range 38 to 41.3wks. Mean age at admission to a neonatal special care unit was 75h, (SD 13.7h). The group with a dynamic (evolving) clinical profile differed significantly from the group with a static (stable) profile in terms of aetiology, while the group with signs of prenatal brain damage differed from the group without these signs regarding aetiology and the level of severity of neurological signs. Sensitivity of the ATNA to detect infants with abnormal ultrasound was 0.97, with EEG 0.89, and with CFM 0.88. At follow-up at 12 to 15 months 47 children were examined: neurological examination was normal in 25 and five children had a minor, five a moderate, and 12 a severe neurological deficit. Agreement of the ATNA with neurological and developmental assessment at follow-up was very good. Our findings suggest that the ATNA is also of value in assessing aetiology and timing of brain lesions.

The non-invasive Exeter Dysphagia Assessment Technique (EDAT) was evaluated as a method of assessing the aetiology of dysphagia in children with cerebral palsy (CP). Data have been collected from a group of 20 typically developing children (nine girls, 11 boys; age range 7 to 14 years) for comparison with 125 dysphagic children with CP (81 boys, 44 girls; age range 1 to 18 years). The swallowing mechanism has been separated into physiological phases: anticipatory, delivery, oral transit, and oral–pharyngeal. Normal or abnormal function in each phase was recorded and the common causes of any impaired phase were considered, starting with generalized possibilities before focusing on specific parts of swallowing physiology. Data from 125 dysphagic children with CP show marked differences from the data for the typically developing children. Interpreting individual results was valuable in assisting the assessment team to formulate management strategies; two examples are presented. The technique appears to provide a cost effective, non-invasive, and valuable clinical tool.

A newly established tertiary epilepsy clinic at Guy's Hospital, London was evaluated using a structured questionnaire. Fifty parents of children with epilepsy completed this questionnaire, with some contribution from the children. While a high degree of satisfaction was obtained by the parents and where appropriate the children, specific questions about additional resources implied a large number of unmet needs. This raises methodological issues about the value of open-ended questions in audit questionnaires. In addition, concerns were expressed about many areas, some of which had direct medical implications that were not always raised with the doctors. It is concluded that the service has benefited from both clinical and neuropsychological support. The audit has prompted a number of improvements, including establishing a discussion group for adolescents.

The most dramatic increase in brain volume occurs in the last three months of fetal life and the first two years after birth. Concomitantly, the skull follows the volumetric increase in the cerebral hemispheres mostly by passive adaptation. The relationship between head and brain growth explains why the classical neurological assessment in infancy universally includes measurement of head circumference (HC). However, this crude information derived from HC measurement remains insufficient to qualify brain growth. One way to better document the relation between brain and skull could be to rely on the correlation between HC and body growth parameters, given a general agreement on the definition of proportionate and disproportionate head–body growth. Significant information with respect to the integrity of the underlying cerebral hemispheres can also be provided by systematic palpation of the main cranial sutures. In particular, the distension or overlapping of the squamous sutures which are strategically located at the junction of the cranial vault and the cranial base could be a valid marker of brain growth disorder.

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.

We describe an 18-month-old boy with insulin-dependent diabetes mellitus who developed idiopathic myoclonic encephalopathy (dancing eye syndrome) at 26 months of age. The neurological symptomatology (multifocal myoclonus, opsoclonus, ataxia, behavioural disturbance) developed within 10 to 14 days after presentation. Biological, neuroradiological, and scintigraphic examination excluded CNS infectious diseases, intoxication, or tumours. At onset of diabetes mellitus, anti-glutamic-acid decarboxylase (GAD) antibodies were observed, and markedly increased in titre when myoclonic encephalopathy occurred. Corticosteroid treatment resulted in a decrease in anti-GAD autoantibody titres and the disappearance of neurological disturbances. As GAD is expressed both in pancreatic β-cells and cerebellar Purkinje cells, it is possible that a common autoimmune disorder in this patient may account for both the diabetes and myoclonic encephalopathy.

Minor neurological dysfunctions (MND) have frequently been reported as an outcome of preterm birth. Behavioural and learning difficulties are a known feature, but coordination problems are especially described in preterm infants at later ages. All preterm infants in our study were born with a gestational age of <32 weeks and a birthweight of <1500g. The aim of the study was to determine if in a normal clinical situation, children at risk for developing coordination problems could be detected by focusing particularly on their spontaneous, although elicited, motor performance. Forty-two children of 2 years 6 months of age were studied of whom 25 were ‘low-risk’ preterm and 17 were born at term. All children had been followed up since birth. In a structured, free-field situation the quality of body rotation, spontaneous reaching-out, and manipulation during parts of the Bayley Developmental Test were observed and videotaped. Body rotations were scored on a 2-point scale, and arm and hand functions on a 3-point scale. Most preterm infants showed non-optimal body rotations and borderline or non-optimal arm and hand functions in contrast to most term children. A clear connection was found between less optimal body rotations and poor arm and hand functions. Retrospectively, poor arm and hand functions at 2 years 6 months seemed to be related to those at 39 weeks. At the age of 39 weeks a clear relation had been found between poor postural control (many preterm infants could not sit independently) and earlier hyperextension of the trunk at 18 weeks and quality of arm–hand functions. In the present study at 2 years 6 months a correlation with the former hyperextension could no longer be found, but there was a significant relation between poor trunk rotation and arm and hand function and the earlier arm and hand functions at 39 weeks.

An 11-year-old boy's epileptic seizures started with a feeling of impending crisis, dizziness, headache, and a bad taste in the mouth. This was followed by swallowing and a burning sensation in the left hand. At the same time, other parts of the body experienced allodynia. MRI and CT scans showed a right anteromesial temporal lesion which proved at neuropathology to be a ganglioglioma. Lesionectomy resulted in complete cessation of seizures. Seizures were absent at an 18-month follow-up. Allodynia is discussed in relation to the locality of the lesion.

The Melbourne Assessment of Unilateral Upper Limb Function (Melbourne Assessment) is an evaluation tool that objectively measures upper-extremity function in children with cerebral palsy (CP). This study investigates how well performance on the Melbourne Assessment relates to the child's actual performance in functional tasks. Eighteen children with CP (5 to 14 years of age; nine males, nine females) were assessed using the Melbourne Assessment and the Pediatric Evaluation of Disability Inventory (PEDI). Five children had spastic quadriplegia, eight had spastic diplegia, two had spastic hemiplegia and diplegia, two had athetosis, and one had hypotonic quadriplegia with mobile ventilator dependence. Children's performances were statistically correlated using Spearman's rho to establish the relation between these tools. Very high correlation coefficients were calculated between the Melbourne Assessment and self-care (0.939) and mobility domains (0.783) of the PEDI and the overall functional skills section of the PEDI (0.718). The Melbourne Assessment demonstrates excellent construct validity for upper limb functioning.

For a better understanding of the contribution vision makes to the development of other sensory systems and to movement and posture, we studied effects of early blindness by examining video recordings of 14 totally blind infants. Infants were born at term or preterm and showed no evidence of brain damage. During preterm and term periods no noticeable changes in motor activity were observed. Around 2 months postterm all infants showed clear delay in head control and abnormal, exaggerated type of ‘fidgety movements’. Later, postural control was characterized by a prolonged period of ataxic features. Results indicate a lack of normal calibration exerted by vision on proprioceptive and vestibular systems. Early visuomotor coordination such as coordinated eye–head scanning and head orientating were present but disappeared after several weeks.