Foreword 2

Members of the Organizing Committee 3

Keynote Speakers 4

Invited Speakers 21

Posters 48

Index 56

The 1999 British Child and Adolescent Mental Health Survey, a nationwide epidemiological study of rates of psychiatric disorder in children aged 5 to 15 years, provided the opportunity to investigate the mental health of children with epilepsy. These children and their families experience disability specifically because of additional emotional, behavioural, and relationship problems, and this is the first epidemiological study that directly measures these impairments. Information was obtained by interviewing a main carer and teacher for 10316 children; 67 children with epilepsy were identified (35 males, 32 females; mean age 10 years 2 months, SD 2 years 11 months, range 5 to 15 years), and compared with the 47 children with diabetes (27 females, 20 males; mean age 10 years 4 months, SD 3 years 4 months, range 5 to 15 years) and 10202 controls (50% male; mean age 9 years 11 months, SD 3 years 1 month, range 5 to 15 years). DSM-IV psychiatric diagnoses were derived from the Development and Well-Being Assessment in combination with the interview and a specialist clinician rating. Parental reports of emotional and behavioural problems, their impact, and associated peer problems were also obtained. Rates of psychiatric disorder were 37% (95% confidence interval [CI] 22 to 49) in epilepsy, 11% (95% CI 2 to 19%) in diabetes, and 9% (95% CI 9 to 10%) in control children. Parents of children with epilepsy consistently reported more problems, with greater impact and associated peer problems. Epilepsy, but not diabetes, was independently (adjusted for age, sex, and severe learning difficulties) associated with all behavioural variables in regression analyses. Emotional, behavioural, and relationship difficulties are common in children with epilepsy, and constitute a significant burden to the children and their families, indicating the need for effective mental health services for these children.

Fatigue is commonly reported among adults with cerebral palsy (CP) and in the general population. The aim of this study was to examine the prevalence of perceived fatigue in adults with CP compared with the general Norwegian population. A multidimensional questionnaire, containing among other instruments the Fatigue Questionnaire, was sent to persons with CP aged 18 years or older with no intellectual disabilities documented in their medical records. Results were compared with recently published results of a study of fatigue in the general population in Norway. There were 406 respondents (209 males, 197 females; mean age 34 years, SD 11 years; age range 18 to 72 years). Distribution of the different types of CP coincided with international epidemiological studies on CP. Adults with CP reported significantly more physical, but not more mental fatigue, than the general population. The strongest predictors associated with fatigue were bodily pain, deterioration of functional skills, limitations in emotional and physical role function, and low life satisfaction. Fatigue was not significantly associated with type of CP but was most prevalent in persons with a self-reported moderate grade of CP. Results of the present study indicate that physical fatigue is a pronounced problem in adults with CP, which has an impact on the preservation of functional skills and life satisfaction. Fatigue and factors related to fatigue should be addressed specifically in follow-up programmes for persons with CP.

The aim of this study was to characterize children with transient nystagmus. Eleven children(six males, five females) developed nystagmus in infancy and then experienced regression of the problem, usually within a few months. Mean age at onset was 2.7 months, and mean age at regression was 8.5 months. No etiology could be ascertained in any of the patients, although four children had other eye or vision abnormalities (regressed retinopathy of prematurity, n=1; asymmetric fundus colobomata, n=1; delayed visual maturation, n=2). Results of this study suggest that mechanisms which allow ocular motor stability undergo a period of postnatal maturation, during which nystagmus can occur, but also during which nystagmus may disappear. Not every case of transient nystagmus should be categorized as spasmus nutans. There is a subset of infants and young children who develop transient nystagmus with no other findings and in whom the nystagmus disappears.

The incidence, survival patterns, and presenting symptoms of children with medulloblastoma were studied. Data were ascertained from the Manchester Tumour Registry which is population-based and has collected data on all childhood malignancies in northwest England since 1954. Incidence rates standardized to the European standard population were calculated and Poisson regression models were used to examine temporal changes in the incidence rates during the period 1954 to 1997. Kaplan–Meier survival curves were derived and used to study changes in survival patterns. World-standardized incidence rates were 5.5 per million child years in males and 3.4 per million child years in females. Incidence rates increased from the 1950s to the 1980s but have declined recently. The 5-year survival rate has improved from 29 to 58% with similar rates for males and females. The 1-year survival rate has also improved, but females had worse survival at this point (58%) than males (75%). The type of symptom or sign at presentation is strongly affected by age, with 10 of the 22 recorded symptoms or signs showing significant age differences. The older the child is, the more likely is the presentation to show pressure features of headache, vomiting, and ophthalmic signs. Younger children present with non-specific features such as lethargy, behavioural disturbance, or increasing head size. Ataxia is seen in about 75% of children across the age range.

The aim of the study was to find the epidemiological distribution of tic disorders and Tourette syndrome (TS) in Swedish school children aged 7 to 15 years. A total population of 4479 children and their parents were asked to fill in a questionnaire covering both motor and vocal tics. A three-stage procedure was used: screening, interview, and clinical investigation. Two hundred and ninety-seven children (190 males, 107 females) were found to have tics. TS, according to DSM-IV criteria, was found in 0.6% of the total population, another 0.8% had chronic motor tics, and 0.5% had chronic vocal tics. Further, 4.8% of the children had transient tics. All together 6.6% of 7- to 15-year-old children currently had or had experienced some kind of tic disorder during the last year. Prevalence of different tic disorders was higher among younger children and in males, and was highly associated with school dysfunction. The prevalence of TS was higher than was previously thought but other tic disorders were more common in this childhood population.

Previous neuroimaging research in Turner syndrome (TS) has indicated parietal lobe anomalies, while anomalies in other brain loci have been less well-substantiated. This study focused on potential cerebellar abnormalities and possible disruptions of interhemispheric (parietal) callosal connections in individuals with TS. Twenty-seven female children and adolescents with TS (mean age 13 years, SD 4 years 2 months) and 27 age-matched female control individuals (mean age 13 years 2 months, SD 4 years 1 month) underwent MRI. Age range of all participants was 7 to 20 years. Morphometric analyses of midline brain structures were conducted using standardized, reliable methods. When compared with control participants, females with TS showed reduced areas of the genu of the corpus callosum, the pons, and vermis lobules VI-VII, and an increased area of the fourth ventricle. No group difference in intracranial area measurements was observed. The reduced area of the genu in TS may reflect compromised connectivity between inferior parietal regions. Further, cerebellar vermis hypoplasia associated with TS agrees with literature that suggests the posterior fossa as a region prone to structural alterations in the face of early developmental insult.

Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS.

This study examined the auditory status of females with Rett syndrome (RS) using auditory brainstem response (ABR) testing and measures of acoustic admittance. Prevalence of hearing impairment in 81 female patients (age range 1 year 3 months to 39 years 8 months; mean age 8 years 7 months, SD 6 years 4 months) was evaluated with ABR measurements. If the ABR latencies at 20dB nHL exceeded those of the normative group, a slight hearing loss was diagnosed. For ABR thresholds in the range 30 to 40dB nHL, a mild hearing loss was determined; moderate hearing loss was diagnosed for ABR thresholds in the range 50 to 60dB nHL. Bilateral hearing loss was found in 16 (19.3%) patients and unilateral hearing loss in 13 (16%) patients. Bilateral hearing loss of moderate degree was found in one patient. No patient was found with severe hearing loss (ABR threshold of 70dB nHL and above) in either ear. Slight hearing loss was found in 10.5% of ears (17 of 162), mild hearing loss in 14.2% of ears(23 of 162), and moderate hearing loss in 3.1% of ears (5 of 162). In 72.2% of ears (117 of 162), findings indicated the presence of normal peripheral auditory sensitivity. Prevalence of sensorineural hearing loss was 17.3% (28 of 162). Evidence of conductive involvement (conductive and mixed hearing loss) was observed in 9.9% of ears (16 of 162). In this cross-sectional study, the prevalence of hearing loss was increased in older RS participants and in those with seizures requiring the use of anticonvulsants. Neither the type of hearing loss nor the presence of preserved speech seemed to be correlated with the type of mutation in methyl-CpG-binding protein 2 (MeCP2) gene that is associated with RS.

The aim of this study was to define quantitative measures for assessing the integration and maturation of suck and swallow rhythms in preterm infants as they relate to each other. Fourteen preterm infants (eight males, six females; gestational age range 26 to 32 weeks) with bronchopulmonary dysplasia (BPD) and an age-matched cohort of 20 infants (10 males, 10 females; gestational age range 26 to 33 weeks) without BPD were studied weekly from time of initiation of oral feeding using simultaneous recordings of nipple and pharyngeal pressure. The integration of suck and swallow rhythms was quantified by using the coefficient of variation (COV) of the suck–swallow dyad interval. Infants without BPD had a significant correlation between increasing postmenstrual age (PMA) and decreasing COV of the dyadic interval (increasing stabilization; r=0.45; p=0.008). In the non-BPD cohort 35 weeks or less PMA, the mean dyadic COV was 0.42 (SD 0.12) versus 0.34 (SD 0.09) in those more than 35 weeks PMA (p=0.039). In contrast, dyadic stability in infants with BPD was not correlated with PMA. Infants with BPD of more than 35 weeks PMA had less dyadic stability (0.45, SD 0.10) than did age-matched controls (p<0.001). Dyadic stability was also correlated with feeding efficiency in the non-BPD group (r=0.46; p=0.007) but not in the BPD cohort. Therefore, ontogeny of rhythmic suckle feeding can be described quantitatively in preterm infants, allowing comparison with at-risk populations. Infants with BPD do not follow predicted maturational patterns of suck–swallow rhythmic integration.

A 10-year-old male was referred with difficulties at school. He had particular difficulty with reading long words, following the sequence of text down a page, writing words in the correct order, writing words in line, and copying from the blackboard. He had a history of infective endocarditis complicated by intracerebral haemorrhage at the age of three years. Detailed history taking revealed symptoms typical of ‘dorsal stream’ pathology, namely a deficit of ‘vision for action’. This included a spatial disorder of attention (simultanagnosia), defective hand and foot movements under visual control (optic ataxia), and acquired oculomotor apraxia which are consistent with Balint's syndrome. Strategies were suggested for coping with the symptoms and one year later a distinct improvement in adapting to the disability was found.

Acute birth asphyxia can be defined as an interference with respiration resulting in hypoxia and tissue acidosis occurring around the time of birth. Because tissue acidosis is commonly associated with circulating acidemia, many clinicians assume that infants born with acute birth asphyxia invariably demonstrate acidemia in umbilical artery blood at birth. Furthermore, they assume that asphyxiated infants will not suffer brain injury unless they demonstrate severe acidemia.