Foreword 2

Session 1: Friday, 11.00–12.30 3

Free Paper Sessions A

Session 2: Friday, 2.15–3.00 13

Free Paper Sessions B

Session 3: Friday, 3.30–5.00 20

Workshops A

Session 4: Saturday, 11.00–12.15 23

Free Paper Sessions C

Session 5: Sunday, 9.00–10.30 32

Workshops B

Session 6: Sunday, 11.00–12.30 34

Workshops C

Poster presentations 36

Index 45

Duchenne muscular dystrophy is the most common life-limiting muscle disorder of childhood. Survival has improved, largely due to more effective orthopaedic and respiratory management. However, abnormal cardiac muscle function (cardiomyopathy) develops in most patients by the age of 18 years and can cause heart failure, leading to 10–40% of deaths. This percentage may be increasing as management of the respiratory complications becomes more successful. As a result, in 2003 a European group recommended an ECG and echocardiogram at diagnosis, then every 2 years until the age of 10, and annually thereafter. If progressive abnormalities occurred they recommended treatment with angiotensin-converting enzymes (ACE) inhibitors and, if needed, beta-blockers. They commented that there was no evidence behind these recommendations and called for multicentre trials. At the end of 2005, the Cardiology section of the American Academy of Pediatrics published similar recommendations and commented on the minimal evidence base. However, as shown by the review article by English and Gibbs in this issue, not all cardiologists agree with these guidelines.

Over recent decades, cardiology has evolved into a highly evidence-based specialty. Guided by the results of large, multicentre, randomized trials of patients with common conditions, cardiologists are usually in the happy position of knowing how best to treat patients, once they have been diagnosed with various conditions or are deemed at risk of developing them. This has led to the implementation of standardized approaches to treatment. The progressive uniformity of care has improved outcomes – preserving quality of life and prolonging survival. Arguably, however, cardiologists are now less comfortable in situations of clinical uncertainty, when evidence is inadequate or does not exist to guide decision making. This is well illustrated by the difficulty experienced by many patients in obtaining appropriate care for the cardiac aspects of a neuromuscular disorder. From a patient's perspective, cardiologists seem unfamiliar with their condition and, usually, to favour therapeutic nihilism.

The aims of this study were to investigate fine motor skills of children with both attention-deficit–hyperactivity disorder (ADHD) and developmental coordination disorder (DCD) and those of a control group, and to examine the effects of methylphenidate on these skills. A group of 12 children with ADHD–DCD (11 males, one female; mean age 9y 8mo [SD 1y 7mo]) and 12 age- and sex-matched controls (mean age 9y 7mo [SD 1y 2 mo]) participated. The manual dexterity subtests of the Movement Assessment Battery for Children, the concise assessment method for children's handwriting, and a computerized graphomotor task were used. Results demonstrated that children with ADHD–DCD performed more poorly on the manual dexterity subtests, had poorer quality of handwriting, and drew more rapidly, more fluently, but less accurately than controls on the graphomotor task. On methylphenidate, manual dexterity and quality of handwriting improved, and strokes on the graphomotor task became less fluent but more accurate. ADHD is characterized by persistent symptoms of inattention, impulsivity, and hyperactivity, affecting 3 to 5% of school-age children. Up to 50% of children with ADHD also have motor coordination problems that are severe enough to meet criteria for DCD. In DCD, children demonstrate functional motor performance deficits not explained by the child's (chronological) age or intellect, or by other neurological or psychiatric disorders.

The objective was to determine the effects of low-dose, high-concentration, dual localized botulinum toxin A (BTX-A) injections on upper limb movement quality and function. Study design was an evaluator-blinded, randomized, controlled trial. Forty-two children (31 males, 11 females; range 2–8y, mean 4y [SD 1.6]) with hemiplegic cerebral palsy (Gross Motor Function Classification System level I) participated. All received occupational therapy. The treatment group (n=21) received one injection series (mean muscles injected 6 [SD 1.05]; total dose 82–220 units, mean 139 [SD 37.48]; dilution 100 units/0.5ml). Primary outcome of Quality of Upper Extremity Skills Test (QUEST) at 6 months was not significant (p=0.318). Secondary outcomes were average treatment effects at 1, 3, and 6 months, which favoured the treatment group: QUEST (p<0.001); Canadian Occupational Performance Measure (performance, p=0.002; satisfaction p=0.007); parent Goal Attainment Scaling (GAS; p=0.001), therapist GAS (p<0.001); Pediatric Evaluation of Disability Inventory (PEDI) functional skills (p=0.030); Ashworth (p<0.001). PEDI caregiver assistance was not significant (p=0.140). Therapy alone is effective, but at 1 and 3 months movement quality is better where BTX-A is also used. Moreover, function is better at 1, 3, and 6 months, suggesting BTX-A enhances therapy outcomes beyond the pharmacological effect. One- and 3-month Ashworth and QUEST scores suggest precise needle placement accuracy.

Rotation characteristics in gait and passive rotation of the lower limbs were evaluated retrospectively in 105 patients with diplegic cerebral palsy (65 males, 40 females; mean age 13y [SD 6y 9mo]; range 4y 4mo–40y 5mo). Of 105 patients, 22 (20.9%) required crutches, sticks, tripods, or a K-walker for their daily ambulation. Twelve (11.5%) patients used a wheelchair or buggy for community distances, e.g. shopping. Significant differences in rotational characteristics were found at the pelvis, hip, knee, and foot between left and right legs. Patients who were more affected on the right (group R, n=33) or the left side (group L, n=39) were re-evaluated. There was also a group of patients who were not asymmetrically affected (group S, n=33). In group L, maximum passive internal rotation was significantly greater on the left side, while no difference between the sides was found in group R. Peak internal rotation in gait was significantly higher on the right side in group R, but did not differ significantly between the sides in group L. Right hindfoot–thigh angle and transmalleolar axis were more external on the right, irrespective of which leg was more affected. These findings may have implications for the early non-operative management of limb posture in infants with diplegia and the surgical management of established lower extremity malrotation.

The lack of evidence regarding functional and quality of life benefits resulting from tone reduction with intrathecal baclofen (ITB) infusion treatment relates to the lack of validated and responsive measures. We integrated our scale/questionnaire, developed from chart review, with the non-validated Caregiver Questionnaire (CQ) to yield a final document, the Care and Comfort Hypertonicity Questionnaire (CCHQ). Convergent validity was achieved by administering the CCHQ to 47 patients with spastic/dystonic cerebral palsy (CP) who were being evaluated for tone management. The population studied included 18 females and 29 males (mean age 10y [SD 4y 10mo]; range 3y 1mo–21y 1mo). Twenty-five patients were subsequently referred for botulinum toxin (BTX-A) injections (mean Gross Motor Function Classification System [GMFCS] 3.2); 11 patients were referred for ITB (mean GMFCS 4.4); four were referred for orthopedic surgery (mean GMFCS 3.3); 3 were referred for selective dorsal rhizotomy (mean GMFCS 2.7); one was recommended for oral baclofen (GMFCS 5); and three were recommended for no treatment (mean GMFCS 3.7). Blinded to the score, those with the highest scores (severe hypertonicity) were recommended for ITB; those with the lowest scores were recommended for BTX-A injections. Responsiveness of the CCHQ was established by administering the questionnaire to patients who already had an implanted ITB pump. The children with the largest dose increase demonstrated a statistically significant improvement in the CCHQ score. This scale can be used to document the efficacy of treating severe hypertonicity both in clinical and research protocols.

The development of self-management skills by adolescents with myelomeningocele is an ongoing process. Previous studies lack consensus about what data can be accurately obtained from adolescents. This cross-sectional study using a convenience sample of 66 adolescent–parent dyads evaluated whether adolescents with myelomeningocele and their parents are interchangeable reporters of data. Adolescents' ages ranged from 12 to 21 years with a mean of 16 years 2 months (SD 2y 8mo); 38 were female, 28 were male; 30% had thoracic lesions, 32% had lumbar lesions, 15% had lumbosacral lesions, 23% had sacral lesions, and 85% had ventriculoperitoneal shunts. In this analysis, participants reported activities (decision-making, household responsibility, and friendship activities) and select outcomes (functional status, self-management, and social competence) similarly. However, differences emerged in reports of beliefs (adolescent future expectations, family variables) and select developmental competencies (school, job, athletic, behavioral, attractiveness, and romantic appeal). Analysis using t-test and interclass correlations supported a pattern of adolescent–parent agreement in areas of observable behavior and differences in more subjective domains such as perception of developmental competencies.

A study of the psychosocial functioning of young adults with a history of learning disability (LD) in childhood is reported. The design was a non-clinic community follow-up investigation of a cohort of children who had received special education, the sample frame for which was a birth-period cohort survey. Participants were 149 young adults (89 males and 60 females derived from a survey of the 33800 children born in the Cambridge Health District between 1967 and 1973) at the stage of transition to adult services (age 18–22y), whose measured IQ scores in childhood were <80, and who had received special education during school years. Most of the young adults were living at home (n=108) and many were in full-time employment (independent employment n=41, sheltered employment n=20), this survey having been carried out in an area of high employment. A strong correlation was found between the child IQ score and subsequent adult Vineland Scale Score. Greater efforts should be made to detect and assess LD and its attendant problems in children in order to plan future care and transition to adulthood, especially for those with more severe disabilities.

In this investigation of 45 children born to mothers with hypertension in pregnancy, our objective was to examine the role of a fetal risk factor (suboptimal intrauterine growth [SOIUG]) in determining developmental outcome. There were two groups of children: Group 1 (n=26; 10 males, 16 females; mean testing age 56.77 mo [SD 13.03], range 41–82 mo; mean gestational age 32.96 wks [SD 2.24], range 27–38 wks; mean birthweight 1984.42g [SD 563], range 1046–3515g) without, and Group 2 (n=19; 6 males, 13 females; mean testing age 57.63 mo [SD 14.86], range 40–84 mo; mean gestational age 34.21 wks [SD 2.10], range 29–39 wks, mean birthweight 1572g [SD 365], range 855–2690g) with SOIUG. We found that SOIUG was associated with a significant reduction in cognitive and motor skills (p<0.05). Visuospatial (p<0.01) as well as motor skills (p<0.001) were linearly associated with the extent of intrauterine growth deficit when the latter was treated as a continuous variable. To conclude, an increase in intrauterine growth deficit is accompanied by a proportionate decline in quality of developmental outcome in children born to mothers with hypertension in pregnancy.

Forty-two infants (20 males, 22 females) with classical phenylketonuria (PKU) entered a prospective, double-blind, randomized study to investigate the effects on biochemical and physiological outcomes of a phenylalanine-free infant formula containing a fat blend supplemented with the long-chain polyunsaturated fatty acids (LC-PUFA), docosahexaenoic acid (DHA, C22:6n–3), and arachidonic acid (AA, C20:4n–6). Between entry and 20 weeks (entry and 1y) of age, median DHA levels in erythrocyte membrane phospholipids decreased by 15% (22%) in the LC-PUFA supplemented group (n=21) and by 61% (64%) in the control group (p<0.001; n=18). A dietary supply of LC-PUFA in infants with PKU prevents the decline in DHA levels associated with a diet supplying minimal sources of LC-PUFA. DHA status in turn, independent of diet, may influence the maturation of the visual system in infants with PKU.

In this study we describe psychosocial functions and seizure-related factors in a population-based sample of children with epilepsy. Psychosocial problems (Achenbach scales), cognitive function, and socioeconomic status were studied in 117 children with epilepsy aged between 6 and 13 years (mean age 11y [SD 2y 1mo] and 10y 8mo [SD 2y]; 71 males, 46 females) and in randomly selected controls matched with 117 children for sex and age (mean age 11y 2mo [SD 2y 1mo] and 10y 5mo [SD 2y 4mo]; 69 males, 48 females). The children had partial (n=67), generalized (n=43), or undetermined (n=7) epilepsy syndromes, and partial (n=68), generalized (n=47), or other (n=2) main seizure types. Psychosocial problems were more common among children with epilepsy than controls (odds ratio 5–9) and significantly related to epilepsy syndrome, main seizure type, age at onset, and seizure frequency. Mothers and teachers reported males with epilepsy as having more problems than females. Females self-reported psychosocial problems, males did not. Psychosocial problems were common in childhood epilepsy. Females appreciated the problems more realistically than males. Psychosocial problems should be considered an integral part of epilepsy management.

The clinical efficacy of lidocaine for convulsive status epilepticus in 53 convulsive episodes was examined in 37 children (17 males, 20 females). Mean age of patients receiving lidocaine was 3 years 7 months (SD 3y 5mo). Lidocaine administration achieved control of status epilepticus in 19 of 53 convulsive episodes (35.8%). Seizures ceased within 5 minutes of lidocaine administration in all 19 patients who were responsive to the drug. Regarding aetiology of status epilepticus and types of seizures, there was no statistical difference in effectiveness. Mild decrease of oxygen saturation, monitored by pulse oximetry, was observed in one patient, which improved by oxygenation using a mask. Lidocaine is a useful anticonvulsive agent; however, the response rate to lidocaine appears to be quite low, as less than half of the seizures were effectively controlled by lidocaine. Favourable properties of the drug include prompt responses, less alteration of consciousness, and fewer adverse effects, including less respiratory depression.

Epilepsy may contribute to memory deficits in children, but these deficits are generally mild. We describe the neuropsychological profile of a female who had prolonged status epilepticus at 5 years of age, and then developed temporal lobe epilepsy. Brain magnetic resonance imaging 1 month after the onset of status epilepticus showed marked bilateral hippocampal atrophy that seemed disproportionate to the mild cortico-subcortical atrophy. At the age of 7 years, this child had cognitive impairment (an IQ of 62), which particularly affected her memory. This included short-term memory, and immediate and delayed memory deficits for verbal and visual materials that had a profound impact on everyday life. This observation demonstrates that severe status epilepticus can cause predominant bilateral hippocampal atrophy in childhood. In contrast with children who develop such damage after anoxia, this may result in general cognitive impairment but also in more severe episodic memory deficit.

Aicardi-Goutières syndrome (AGS) is an early-onset progressive encephalopathy characterized by calcifications of the basal ganglia, white matter abnormalities, chronic cerebrospinal fluid (CSF) lymphocytosis, and/or a raised level of CSF interferon (INF)-α. We report a female with mitochondrial respiratory chain deficiency fulfilling the criteria of AGS. Disease onset was in the first year of age with seizures and psychomotor regression. To date, at 4 years of age, she presents a severe encephalopathy, increased INF-α in the CSF, and calcifications of basal ganglia on computerized tomography. Cerebral magnetic resonance imaging showed bilateral and symmetric hypersignal of the posterior white matter. A complex I deficiency of the mitochondrial respiratory chain was found in skeletal muscle, which was associated with a complex IV deficiency in cultured skin fibroblasts. The question of whether this oxidative phosphorylation deficiency is primary or secondary in AGS is open to debate. We suggest giving consideration to systematic evaluation of the mitochondrial respiratory chain in skeletal muscle and skin fibroblasts of other AGS patients.

Dilated cardiomyopathy, hypertrophic cardiomyopathy, and cardiac rhythm disturbances are important features of certain neuromuscular disorders in children, adolescents, and young adults. This article summarizes the cardiac features seen in patients with Duchenne muscular dystrophy, Becker muscular dystrophy, myotonic dystrophy, Friedreich's ataxia, and Emery-Dreifuss muscular dystrophy. The optimal management of these cardiac features remains contentious, but increasingly these patients are referred for routine cardiological assessment in the absence of symptoms. This article examines the value of routine screening and drug interventions for cardiac complications in asymptomatic and symptomatic individuals with neuromuscular disorders. We recommend a pragmatic approach, actively looking for cardiac conditions which will benefit from early intervention, but avoiding routine screening for asymptomatic conditions in which there is no evidence of benefit from early intervention.

The aim of this paper is to promote the correct classification of, and provide guidelines on, the diagnosis and management of Panayiotopoulos syndrome (PS). An international consortium of established researchers in the field collaborated to produce a consensus document. The resulting document defines PS, characterizes its electro-clinical features, considers its likely pathogenesis, and provides guidance on appropriate management. We conclude that PS is a common idiopathic, benign seizure disorder of childhood, which should be classified as an autonomic epilepsy, rather than an occipital epilepsy.