This study investigated the relation between sensory visual problems and the severity of visuospatial difficulties in a large group of young children with Williams' syndrome (WS). A questionnaire describing visual and associated problems was completed by the families of 108 children with WS and detailed follow-up assessments were conducted, including visual, spatial, motor, visuocognitive, and linguistic tests of 73 of these children (mean age 7 years 3 months; 40 males, 73 females). Children with WS showed a much higher incidence of common paediatric sensory vision problems (strabismus, visual acuity loss, amblyopia, reduced stereopsis) than normally developing children. It was found that delays with respect to age normative values increased with age on all tests. No significant correlation was found between the presence of a visual deficit and the severity of the visuospatial problems, suggesting that the difficulties children with WS have in understanding spatial arrangements are not simply a result of their earlier sensory visual problems. Results confirm the dissociation between visuospatial and language abilities in children with WS, and support the neurobiological model of a split between ventral and dorsal stream processing of visual information with a generalized deficit in dorsal stream processing in young children with WS.

To investigate intrasession and intersession reliability of balance tests in children with or without disabilities, 50 children without disabilities (ND) and 36 children with cerebral palsy (CP) aged from 5 to 12 years were tested. Intrasession reliability of postural stability of the Smart Balance Master System and one-leg standing test were assessed in both groups and intersession reliability of the Smart Balance Master System and balance subtest of the Bruininks–Oseretsky Test of Motor Proficiency (BOTMP) were assessed in ND children. Intersession reliability of the postural stability test in ND children, obtained using the Smart Balance Master System, was of moderate to good reliability in centre target (CT), sway vision (SV), eyes open and sway surface (EOSS), and sway vision and sway surface (SVSS; ICC 0.72 to 0.84). In children with CP, intrasession reliability was high in CT (ICC 1). One-leg standing tests in both groups also had moderate to good intersession reliability (ICC 0.56 to 0.99). Agreement of failure score of lateral rhythmic shifting (LRS) at 1 second and 2 seconds pace was 85% and 93% respectively in ND children. Within the balance subtest of BOTMP, only two items had 100% agreement. Results suggest that postural stability tests in four conditions (CT, SV, EOSS, and SVSS), LRS, one-leg standing, and walking on a line are reliable and can be used to monitor balance control in ND children. Postural stability in CT condition and one-leg standing test are reliable in children with CP. Further study is needed to establish more reliable balance tests for children with CP.

We have considered multiple subpial transection (MST) as a treatment option for Landau–Kleffner syndrome (LKS) for the past 6 years. The effect of this technique on language and cognitive ability, behaviour, seizures, and EEG abnormalities is analysed here. Five children (4 males, 1 female; aged 5.5 to 10 years) underwent MST with sufficiently detailed pre- and postoperative data for analysis. Behaviour and seizure frequency improved dramatically after surgery in all children. Improvement in language also occurred in all children, although none improved to an age-appropriate level. All five had electrical status epilepticus in sleep (ESES) before surgery, which was eliminated by the procedure. One child has had an extension of his MST due to the recurrence of ESES and accompanying clinical deterioration with good effect. An attempt is made to set the effect of MST against the natural history of the condition. MST is an important treatment modality in LKS, although the timing of this intervention and its effect on final language outcome remains to be defined.

Outcome was studied of all children and adolescents with pseudoseizures without epilepsy, who were referred and treated as in-patients and/or day patients in the tertiary psychiatric ward at Birmingham Children's Hospital, UK between 1988 and 1994. Information was derived from case-note data. Freedom from seizures for six months was defined as ‘cure’, as no recurrences after this period were noted. Kaplan–Meier survival analysis was used. Seventeen patients were identified: 15 females and two males; mean age at presentation to the tertiary psychiatric service was 12 years 9 months (SD 26 months; range 8 years 3 months to 15 years 9 months). Fourteen participants recovered and resumed regular school attendance. Three were lost to follow-up due to being referred on to other agencies before recovery because they became too old for the service. Recovery followed an exponential distribution, with a mean symptom survival time following treatment of 1.5 years. These results are consistent with a treatment effect. Younger age at presentation, female sex, having more types of seizures, and not receiving both in-patient and outpatient treatment were associated with better outcome. The deteriorating prognosis with age at treatment suggests prompt identification may be important in ensuring a good outcome.

This study aimed to investigate the prevalence of undernutrition in children with cerebral palsy (CP) and to determine the relation with feeding ability. Ninety children with CP from special needs schools were examined. Undernutrition was diagnosed on one or more of the following criteria: weight <2nd centile, triceps or subscapular skinfold measurement <3rd centile, mid-arm circumference <5th centile. Feeding competence was scored with respect to seven specific oromotor tasks using the Multidisciplinary Feeding Profile. Thirty-six participants (40%) had diplegia, 29 (33%) quadriplegia, 13 (14%) hemiplegia, and 12 participants (13%) had dyskinetic CP. Age ranged from 2.6 to 18.7 years (mean 10.8 years). Forty-six percent (41 of 90) were undernourished. In all aspects of feeding, those undernourished had lower feeding competence scores compared to adequately nourished children (p<0.002). Each modality of feeding competence correlated significantly to the centiles of weight, triceps or subscapular skinfold measurement and mid-arm circumference (p<0.02). A positive association of weight, triceps skinfold measurement, and mid-arm circumference with chewing ability was present independent of other feeding modalities (p<0.05). Undernutrition was common in this group and was associated with poorer feeding ability.

The purpose of this study was to estimate striatal dopamine (D2) receptor availability in non-drug treated children with attention-deficit–hyperactivity disorder (ADHD) before and after methylphenidate therapy, and to examine correlations between severity of symptoms and response rates to stimulant medication with levels of striatal D2 receptor binding. Nine children (six males, three females; mean age 9.8 years, SD 2.3 years) with ADHD participated. All underwent iodobenzamide (123I IBZM) brain SPECT within 2 hours following intravenous injection of 123I IBZM before and 3 months after methylphenidate therapy. A semiquantitative approach was used to generate indices of specific D2 receptor binding in the basal ganglia. Specific binding ratios at baseline were higher than the previously reported specific binding values obtained in studies using young healthy adults. D2 availability reduced significantly (paired t-test, p<0.05) as a function of methylphenidate therapy in patients with ADHD in all four regions of the striatum. When the relation between therapy response and D2 availability was investigated, we observed that the higher the baseline D2 levels were, the higher the response rate was (detected as the percentage reduction of hyperactivity scores and Conners Teacher Rating Scale scores), while no such trend was observed between the initial D2 binding levels and the response in attention-deficit scores. Results indicate that in non-drug treated children with ADHD, higher D2 receptor availability is observed at baseline which is down-regulated back to reported near-normal values after methylphenidate therapy. The effect of methylphenidate on D2 receptor levels in patients with ADHD is similar to that observed in healthy adults; a down-regulation phenomenon within 0 to 30%. In addition, initially higher values of D2 availability seem to indicate better response to methylphenidate therapy in ADHD.

Cohen syndrome is a rare, genetic, connective-tissue disorder, with the genetic abnormality linked to chromosome 8q22. Its physical features (particular facial characteristics; body, limb, and visual abnormalities; height and weight problems) have been well documented but little is known about the psychological and behavioural development of individuals with the condition. Suggestion of a dual diagnosis of autism in a small minority of individuals led to a more detailed survey of parents belonging to the Cohen Syndrome Support Group, based in the UK. Thirty-three individuals, 18 males and 15 females, aged from 2 to 45 years (mean age 15 years) were involved in the study. Over half of the participants (n=19) showed a pattern of impairments in social and communication skills, together with rigid and stereotyped behaviours or interests that seemed to meet DSM-IV/ICD-10 criteria for autism. ‘Autistic-type’ problems were as common in females as in males. In almost all cases, parents had noted difficulties in their child before the child reached the age of 1 year. This study suffers from a number of methodological shortcomings including the fact that it was a postal survey, the sample size was small, and no standardized diagnostic or psychometric data were available. However, the incidence of social, communication, and behavioural problems would seem to warrant further research and a larger-scale study is planned in association with an independent investigation of physical and genetic characteristics in the same group of individuals.

A consecutive series of 53 children with myelomeningocele (mean age 7.6, range 3.2 to 11.4 years) was assessed in order to see if the children with motor paresis of the lower limbs achieved the expected level of ambulation, and if not, to identify possible causative factors. Methods used were clinical examination of orthopaedic and neurological status, information from medical reports, and documentation of orthoses use. Functional skills were documented and energy expenditure was examined. Thirty-one of 53 children had reached the expected ambulation considered possible according to their motor paresis, whereas 22 of the 53 performed worse than expected. Balance disturbances, occurrence of spasticity in knee and hip joints, and number of shunt revisions made differed significantly between the groups that achieved and did not achieve expected ambulation. Functional skills of mobility differed significantly between two muscle-function levels in children who had walking ability. Energy expenditure was higher in the non-achieving group than in the group who achieved expected ambulation in each of the muscle-function levels. Results show that children with similar muscle paresis exhibit different ambulatory function. This indicates the importance of a close analysis of other factors which may cause ambulation to deteriorate in order to predict future ambulation in children with myelomeningocele.

Learning disability and cerebral palsy are often related to factors present before birth. We report three patients (two with schizencephaly, one with unilateral cerebellar agenesis) in whom the timing of an insult to the foetus was known. In the first case, the mother had a trauma at 16 weeks of pregnancy and schizencephaly was discovered in the male infant associated with a left hemiplegia. In the second child, amniocentesis performed at 16 weeks into pregnancy may have been responsible for the same cortical anomaly. In the third case, sequential foetal echographies clearly demonstrated that an apparent unilateral cerebellar agenesis was related to an haemorrhagic event secondary to cerebellar trauma that occurred at 19 weeks of pregnancy. It is suggested that these brain malformations are related to an ischemic mechanism or a traumatic event in foetal life.

The prevalence of autistic disorder was analysed in 25 individuals with Möbius sequence, a disorder with brain-stem dysfunction. The sample consisted of 18 males and seven females (20 participants were aged 2 to 22 years, and five were aged 1, 19 and 23 months, and 55 years old). Participants were recruited after a nationwide call and were part of a multidisciplinary study of individuals with Möbius sequence. They were given a meticulous neuropsychiatric examination including standardized autism diagnostic interviews. Ten individuals had an autistic spectrum disorder. Six of these met all diagnostic criteria for autism. In 23 individuals cognitive development could be assessed. Eight of those 23 patients had clear learning disability and six individuals were functioning in the normal but subaverage range. Autistic spectrum disorder and learning disability occurred in more than a third of the examined patients. Considering the hospital-based nature of the sample, these findings may be overestimates. Nevertheless, awareness of this coexistence is important in the diagnosis and habilitation care of children with Möbius sequence. Moreover, the results provide further support for the notion of a subgroup of autistic spectrum disorders being caused by first trimester brain-stem damage.

This study reports on cognitive abilities and attainment in 29 children and 21 adults with Smith-Magenis syndrome. There were 13 boys and 16 girls aged 6 to 16 years, and nine men and 12 women aged 16 to 52 years. All had mild to severe learning disabilities with no differences overall between verbal and performance skills, but with a particular profile of cognitive strengths and weaknesses. Levels of attainment and of adaptive behaviour were strikingly low, and the group of adults emerged as much more dependent on carers than might have been expected from their general level of intellectual functioning. Reasons for this discrepancy are explored in terms of the severe behavioural difficulties characteristic of the syndrome.

Pediatric hemifacial spasm can be a sign of an intracranial tumor. We examined two females, ages 2 and 6 years, who presented with hemifacial spasm as an early sign of accommodative esotropia. Initial ophthalmologic examination disclosed high hyperopia without detectable esotropia. Both children developed an intermittent esotropia over the following month. In the first child, the hemifacial spasm resolved concurrent with the onset of amblyopia. In the second child, spectacle correction produced immediate cessation of the spasms. In both children, squinting to avoid diplopia produced an overflow facial movement that manifested as hemifacial spasm. Accommodative esotropia should be considered in the differential diagnosis of pediatric hemifacial spasm.

Nine children (five males, four females; age range 6 years 1 month to 11 years 1 month) affected by benign epilepsy of childhood with centrotemporal or Rolandic spikes (BECRS) with EEG evidence of marked activation of interictal epileptic discharges (IEDs) during sleep, and nine unaffected control children matched for age, sex, and socioeconomic status, were enrolled in a prospective study. At the time of detection of IED activation during sleep, patients showed a mean Full-Scale IQ score within the normal range, but significantly below that of control participants; neuropsychological assessment revealed disorders in visuospatial short-term memory (Corsi's Block Tapping Test), attention, and cognitive flexibility (Trail Making Test and Stroop Color-Word Test), picture naming, and fluency (Benton's Naming Test and Word Fluency), visuoperceptual skill (Ghent-Poppelreuter and Street Gestalt Completion Tests) and visuomotor coordination (Bender Test). After detection of IED activation during sleep, children were followed up for 2 years. At the time of IED remission (T1), neuropsychological re-evaluation showed a notable increase in IQ score and a significant improvement (t-test: p<0.007) in visuomotor coordination, non-verbal short-term memory, sustained attention and mental flexibility, picture naming, and visual–perceptual performance. At T1, patients' performance did not differ from the controls (Mann–Whitney U test).

There were two purposes for this study: to determine the within-subject changes of visual evoked potentials (VEPs) over time, and to evaluate the usefulness of baseline VEP testing in the early diagnosis of increased intracranial pressure (ICP). Twenty children with hydrocephalus between the ages of 4 and 18 years (18 males, 2 females) were evaluated monthly for up to four months. Flash-evoked VEP tests were done in a standardized manner using a Cadwell Quantum 84 evoked potential stimulation and recording instrument. One participant had abnormal VEPs found during a previous episode of shunt malfunction. For all of the other VEP tests, the latency of the N2 response was in the range of adult normal values. For 15 participants with multiple evaluations there were non-significant differences in N2 latency from one session to the next. This study's results provide evidence that within-subject VEP measurements in children with hydrocephalus appear to be relatively stable over limited periods. However, considerable differences were found when comparing VEPs between participants. Further research may provide additional evidence that periodic, routine VEP testing is an effective way to monitor individuals who have shunted hydrocephalus in order to detect increased ICP before the appearance of obvious symptoms.

Individuals with Angelman syndrome (AS) have severe learning disability, ataxia, seizures, dysmorphic facies, a happy, sociable disposition, and inability to speak. Most of the literature concerning the clinical features of AS has concentrated on younger children. This study aimed to look at the natural history of AS by documenting the clinical features in a group of 28 adolescents and adults with AS (12 males, 16 females; age range 16 to 40 years). Specific aspects studied included physical characteristics, general health, mobility, seizure disorder, behaviour and communication, and self-help skills. Problems seen in this older group of individuals differed significantly from those typically observed in younger children. The incidence of scoliosis and joint contractures increased with age. Facial features were more striking in adults. Hyperactivity and concentration improved and the sociable disposition persisted. There were subtle clinical differences between the groups of individuals with different underlying genetic abnormalities. Information obtained from this study is relevant to diagnosis and management of older individuals with AS.

Horizontal asymmetric nystagmus usually occurs in one of three situations: secondary to an intracranial lesion, with monocular visual loss, or as part of the triad that constitutes the diagnosis of spasmus nutans (asymmetric nystagmus, abnormal head posture, head shake). Clinical records of 277 children, presenting with congenital nystagmus over an 8-year period were reviewed. Nystagmus was asymmetric in 24 of 277 cases. Seven of these patients were diagnosed with spasmus nutans. This is a rare condition that is only diagnosed retrospectively based on the absence of any abnormal neuroimaging or electrophysiological findings. Twelve of 24 patients had intracranial pathology and all had abnormal visual evoked potentials (VEPs). Five patients were diagnosed with congenital sensory defect nystagmus including one with albinism, three with congenital cone dysfunction, and one with cone-rod dystrophy. This paper stresses that although neuroimaging is necessary in all patients presenting with asymmetric nystagmus, such nystagmus can also occur with retinal disease or albinism and indicates the importance of non-invasive VEP/ERG testing in all forms of nystagmus.

Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic histiocytes. First symptoms are usually hepatosplenomegaly, pancytopenia, and intractable fever. Up to 73% of those with HLH develop CNS involvement during the disease course. The peculiarity of the two patients presented here, a 20-month-old Italian female and a 4-year-old Moroccan female, is that the initial presenting neurological symptoms mimicked an encephalitis, anticipating the typical systemic symptoms by 1 and 4 months. They developed progressive encephalopathy accompanied by status epilepticus, one child developed a secondary hydrocephalus. In both children it was not possible to detect an underlying infection or malignant disease and there were no other cases in the family that suggested a familial form of HLH. Diagnosis and initiation of treatment was delayed because of the initial encephalopathic clinical picture and the late onset of the typical systemic features. As early diagnosis allows better therapeutical approaches, haemophagocytic lymphohistiocytosis should be considered in children with persistent or progressive findings of encephalopathy, especially in the absence of identification of a plausible pathogen.

Subcortical band heterotopia (SBH) or ‘double cortex’, is a congenital brain abnormality that results from aberrant migration of neurons during development of the cortex. MRI shows a continuous band of heterotopic grey matter located between the cortex and ventricular walls, separated from them by a thin layer of white matter. The condition is quite rare, found predominantly in females, and is occasionally familial with an X-linked dominant inheritance. Current research has focused on genetic and neurological correlates, with cognitive assessment restricted to a global measure of general intellectual functioning. This paper describes in detail the results of a neuropsychological assessment of a 9-year-old female recently diagnosed with SBH. Predominant features were a significantly reduced speed of processing for visuomotor and oral output and reduced immediate registration of information. This difficulty has functional implications affecting skill acquisition, learning in the classroom, and social interaction.

The aim of the study was to determine audiological function at 14 years of age of very-low-birthweight (VLBW [les ]1500g) children compared with a cohort of normal birthweight (NBW >2499g) children. Participants were consecutive surviving preterm children of birthweight <1000g born between 1977 and 1982 (n=86) and of birthweight 1000 to 1500g born between 1980 and 1982 (n=124) and randomly selected NBW children born between 1981 and 1982 (n=60). Audiometric tests included pure tone audiometry, tympanometry, stapedius muscle reflexes, and measures of central auditory processing. Psychometric tests included measures of IQ, academic achievement, and behaviour. There were no significant differences in rates of hearing impairment, abnormal tympanograms, figure–ground problems, or digit recall between VLBW children and NBW control children. VLBW children had higher rates of some central auditory processing problems, which in turn were associated with poorer intellectual, academic, and behavioural progress.

Among key points in making progress and succeeding with a therapeutic programme for children with disabilities is parental compliance with the regime for their child. The purpose of this study was to evaluate factors influencing compliance with home therapy in the Jewish and Bedouin populations. Data were collected by structured questionnaires. A total of 193 families participated (84% response rate) with children who ranged in age from 6 months to 6 years (mean age at first visit to the centre was 9.5 years in Jews and 16.1 years in Bedouin). Compliance was significantly lower among the Bedouin. Multivariate regression analysis showed that the strongest contributory factor in lack of compliance was being Bedouin. The second factor was intensity of questioning destiny, indicating that parents with these feelings may be less likely to comply with therapeutic regimes. Other factors which were associated with compliance were parents' education and socioeconomic status: lower levels on these dimensions corresponded with lower parental compliance. These results were illuminated by a trial intervention programme for Bedouin families which involved telephone contact, translation facilities, and detailed explanations during visits to the centre. Intervention increased the compliance rate of the Bedouin appointments with specialists to 76% (91 of 120 appointments) thereby reaching similar levels to those of the Jewish group. These preliminary results indicate that the strong association between non-compliance and being Bedouin may be due to factors of communication, and that the Bedouin are receptive to therapeutic interventions when communicated in their own language.