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P15. Measures of autonomic dysfunction in early-motor Parkinson’s disease
Abstracts / Clinical Neurophysiology 125 (2014) e43–e48
P11. Quality of Life after pediatric ischemic stroke: Five year follow-up of swiss children—S. Kornfeld a,b, S. Winkelbeiner a, M. Studer a, E. Boltshauser c, A. Capone Mori d, A. Datta e, J. Fluss f, D. Mercati g, A. Hackenberg c, E. Keller h, O. Maier i, J.P. Marcoz j, G.P. Ramelli k, C. Poloni l, R. Schmid m, T. Schmitt-Mechelke n, E Wehrli a, T. Heinks a, M. Steinlin a (a University Children’s Hospital Berne, Berne, Switzerland, b Center for Cognition, Learning and Memory, University of Berne, Berne, Switzerland, c University Children’s Hospital Zürich, Zürich, Switzerland, d Children’s Hospital Aarau, Aarau, Switzerland, e University Children’s Hospital Basel, Basel, Switzerland, f University Children’s Hospital Geneva, Geneva, Switzerland, g Children’s Hospital Neuchâtel, Neuchâtel, Switzerland, h Children’s Hospital Chur, Chur, Switzerland, i Children’s Hospital St. Gallen, St. Gallen, Switzerland, j Children’s Hospital Sion, Sion, Switzerland, k Children’s Hospital Bellinzona, Bellinzona, Switzerland, l University Children’s Hospital Lausanne, Lausanne, Switzerland, m Children’s Hospital Winterthur, Winterthur, Switzerland, n Children’s Hospital Lucerne, Lucerne, Switzerland) Aims: Children after pediatric arterial ischemic stroke (AIS) are known to suffer from neurological and neuropsychological impairments but limited data is available concerning quality of life (QoL) outcome. The aim of this present study is to examine long-term effects on QoL in a population-based AIS sample from Switzerland. Methods: Children registered in the Swiss Neuropaediatric Stroke Registry (SNPSR) and suffering an AIS during the years 2000–2008 were included. Five years after stroke, children and parents rated QoL with the Kidscreen-27 (Physical Wellbeing, Psychological Wellbeing, Parents/Autonomy, Social Support, and School Environment). QoL and subdomains were related to age at stroke, gender, poststroke cognitive abilities, socio economic status of parents, and lesion characteristics. Results: Concerning the children’s rating, of sixty-nine children (29% female; age at stroke 12.02 years, range: 5–21) only 2.9% reported overall QoL below average. There was no significant correlation between QoL and age at stroke or sex, females had a tendency to report lower QoL. Children with combined lesions (cortical and subcortical) had lower overall QoL. Children with left sided lesions had a tendency of lower QoL. Mann–Whitney U comparison of means showed IQ to be independent of QoL. Altogether, children rated social support as the most impaired subdomain. The parent’s QoL ratings correlated with those of their children (Pearson r = .539, p = .000) but was lower than those of the children, reaching significance in some domains. Conclusions: QoL of children after AIS in general is not or mildly disturbed, but parents feel more problems for their children. Social support was for children and parents the most disturbed domain, pointing to marked problems with peers. Combined cerebral lesions were the only significant effect on QoL. These results point to the fact that despite of neurological and neuropsychological problems, these children are well integrated in society, which might be an effect of adequate support by parents, teachers and/or therapeutic interventions. doi:10.1016/j.clinph.2014.06.015
P13. Childhood narcolepsy with cataplexy: Clinical characteristics of 4 cases—A. Hackenberg, P. Hunkeler, O. Jenni, B. Plecko (Kinderspital Zürich, Zürich, Switzerland) Introduction: Childhood narcolepsy with cataplexy is a rare lifelong disorder which usually emerges in adolescence. Diagnosis is often delayed for many years due to poor awareness and gradual onset of symptoms. Excessive daytime sleepiness can be mistaken
e45
as a physiological phenomenon of the teenage years and cataplexy might be overlooked. Methods: 4 proven cases of narcolepsy are presented that were referred to our outpatient clinic during the past 2 years. Results: We report on 3 boys and 1 girl aged 6 to 13 years at disease onset. In all patients excessive daytime sleepiness was the main complaint. At the time of first presentation cataplexy was not reported but recognized by patients and parents when asked for. Loss of muscle tone affected the face and the trunk. None of the patients had drop attacks. 1 boy had major weight gain. The girl was the only patient who reported on night-time hallucinations and sleep paralysis and therefore presented with all disease defining symptoms. Rapid disease onset after a viral infection occurred in 2 boys. In 2 patients a peculiar facial expression with unusual tongue protrusion was reported and evident on physical exam. Mood changes and aggressive behaviour occurred in 2 patients. Polysomnography (PSG) and multiple sleep latency (MSLT) tests were performed in all patients and revealed typical findings of narcolepsy with sleep fragmentation, sleep onset REM and short sleep latency in 3 patients, while in 1 patient PSG and MSLT were normal. Carriage of the HLA-DQB1*0602 haplotype and low CSF hypocretin levels were confirmed in the 3 boys. In one patient intravenous immunoglobulins were administered and lead to a transient symptom relief but failed to induce an increase of CSF hypocretin. Excessive daytime sleepiness was assessed using the Epworth Sleepiness Scale (ESS). All patients were treated with methylphenidate resulting in reduction of the ESS score. In 2 patients improvement is not yet considered as sufficient. As expected cataplexy did not respond to treatment. Conclusions: Narcolepsy with cataplexy is a severely disabling, most probably autoimmune disease. Early diagnosis and treatment initiation may improve school performance and quality of life during the teenage years and hopefully also the longterm course. Treatment recommendations are adopted from adult medicine but are still controversial due to addictive potential and off-label use of some substances, as sodium oxybate in children. doi:10.1016/j.clinph.2014.06.016
P14. Anti-NMDA receptor encephalitis: A paediatric case report—M.L. Giarrana a, S. Böttger b, B. Plecko a, T. Ehrenreich b, G. Wohlrab a (a Department of Paediatric Neurology, University Children’s Hospital, Zürich, Switzerland, b Department of General Paediatrics, University Children’s Hospital, Zürich, Switzerland) Aim: Anti-NMDA-receptor encephalitis is a rare autoimmune disease first described in 2007. One of the main challenges in daily clinical practise is its recognition and over the past years milder cases with primarily psychiatric symptoms have been recorded. So far clear treatment guidelines are missing and beside the paraneoplastic association with ovarial teratoma little is known on the origin of the underlying autoimmune process. Methods: Case report. Results: We present the case of a 12 years old girl who after a prodromal phase of 2–3 weeks with a strange gaze, anxiety and discrete articulation problems developed an episode with agitation and confusion lasting for a few hours; within the following days epileptic seizures and severe speech problems emerged. Movement disorders, autonomic instability, decreased consciousness or memory disturbances were missing. NMDAR antibodies in serum were negative. Lumbar puncture showed mild mononuclear pleocytosis, normal protein and an elevated NMDAR antibody titer. Cerebral MRI was normal, EEG showed slowing in the temporal regions. Treatment with high dose steroids and IVIG led to marked and rapid improvement within 1 week. IVIG therapy will be repeated after 1 month and steroids will be continued up to 3 months.
P11. Quality of Life after pediatric ischemic stroke: Five year follow-up of swiss children—S. Kornfeld a,b, S. Winkelbeiner a, M. Studer a, E. Boltshauser c, A. Capone Mori d, A. Datta e, J. Fluss f, D. Mercati g, A. Hackenberg c, E. Keller h, O. Maier i, J.P. Marcoz j, G.P. Ramelli k, C. Poloni l, R. Schmid m, T. Schmitt-Mechelke n, E Wehrli a, T. Heinks a, M. Steinlin a (a University Children’s Hospital Berne, Berne, Switzerland, b Center for Cognition, Learning and Memory, University of Berne, Berne, Switzerland, c University Children’s Hospital Zürich, Zürich, Switzerland, d Children’s Hospital Aarau, Aarau, Switzerland, e University Children’s Hospital Basel, Basel, Switzerland, f University Children’s Hospital Geneva, Geneva, Switzerland, g Children’s Hospital Neuchâtel, Neuchâtel, Switzerland, h Children’s Hospital Chur, Chur, Switzerland, i Children’s Hospital St. Gallen, St. Gallen, Switzerland, j Children’s Hospital Sion, Sion, Switzerland, k Children’s Hospital Bellinzona, Bellinzona, Switzerland, l University Children’s Hospital Lausanne, Lausanne, Switzerland, m Children’s Hospital Winterthur, Winterthur, Switzerland, n Children’s Hospital Lucerne, Lucerne, Switzerland) Aims: Children after pediatric arterial ischemic stroke (AIS) are known to suffer from neurological and neuropsychological impairments but limited data is available concerning quality of life (QoL) outcome. The aim of this present study is to examine long-term effects on QoL in a population-based AIS sample from Switzerland. Methods: Children registered in the Swiss Neuropaediatric Stroke Registry (SNPSR) and suffering an AIS during the years 2000–2008 were included. Five years after stroke, children and parents rated QoL with the Kidscreen-27 (Physical Wellbeing, Psychological Wellbeing, Parents/Autonomy, Social Support, and School Environment). QoL and subdomains were related to age at stroke, gender, poststroke cognitive abilities, socio economic status of parents, and lesion characteristics. Results: Concerning the children’s rating, of sixty-nine children (29% female; age at stroke 12.02 years, range: 5–21) only 2.9% reported overall QoL below average. There was no significant correlation between QoL and age at stroke or sex, females had a tendency to report lower QoL. Children with combined lesions (cortical and subcortical) had lower overall QoL. Children with left sided lesions had a tendency of lower QoL. Mann–Whitney U comparison of means showed IQ to be independent of QoL. Altogether, children rated social support as the most impaired subdomain. The parent’s QoL ratings correlated with those of their children (Pearson r = .539, p = .000) but was lower than those of the children, reaching significance in some domains. Conclusions: QoL of children after AIS in general is not or mildly disturbed, but parents feel more problems for their children. Social support was for children and parents the most disturbed domain, pointing to marked problems with peers. Combined cerebral lesions were the only significant effect on QoL. These results point to the fact that despite of neurological and neuropsychological problems, these children are well integrated in society, which might be an effect of adequate support by parents, teachers and/or therapeutic interventions. doi:10.1016/j.clinph.2014.06.015
P13. Childhood narcolepsy with cataplexy: Clinical characteristics of 4 cases—A. Hackenberg, P. Hunkeler, O. Jenni, B. Plecko (Kinderspital Zürich, Zürich, Switzerland) Introduction: Childhood narcolepsy with cataplexy is a rare lifelong disorder which usually emerges in adolescence. Diagnosis is often delayed for many years due to poor awareness and gradual onset of symptoms. Excessive daytime sleepiness can be mistaken
e45
as a physiological phenomenon of the teenage years and cataplexy might be overlooked. Methods: 4 proven cases of narcolepsy are presented that were referred to our outpatient clinic during the past 2 years. Results: We report on 3 boys and 1 girl aged 6 to 13 years at disease onset. In all patients excessive daytime sleepiness was the main complaint. At the time of first presentation cataplexy was not reported but recognized by patients and parents when asked for. Loss of muscle tone affected the face and the trunk. None of the patients had drop attacks. 1 boy had major weight gain. The girl was the only patient who reported on night-time hallucinations and sleep paralysis and therefore presented with all disease defining symptoms. Rapid disease onset after a viral infection occurred in 2 boys. In 2 patients a peculiar facial expression with unusual tongue protrusion was reported and evident on physical exam. Mood changes and aggressive behaviour occurred in 2 patients. Polysomnography (PSG) and multiple sleep latency (MSLT) tests were performed in all patients and revealed typical findings of narcolepsy with sleep fragmentation, sleep onset REM and short sleep latency in 3 patients, while in 1 patient PSG and MSLT were normal. Carriage of the HLA-DQB1*0602 haplotype and low CSF hypocretin levels were confirmed in the 3 boys. In one patient intravenous immunoglobulins were administered and lead to a transient symptom relief but failed to induce an increase of CSF hypocretin. Excessive daytime sleepiness was assessed using the Epworth Sleepiness Scale (ESS). All patients were treated with methylphenidate resulting in reduction of the ESS score. In 2 patients improvement is not yet considered as sufficient. As expected cataplexy did not respond to treatment. Conclusions: Narcolepsy with cataplexy is a severely disabling, most probably autoimmune disease. Early diagnosis and treatment initiation may improve school performance and quality of life during the teenage years and hopefully also the longterm course. Treatment recommendations are adopted from adult medicine but are still controversial due to addictive potential and off-label use of some substances, as sodium oxybate in children. doi:10.1016/j.clinph.2014.06.016
P14. Anti-NMDA receptor encephalitis: A paediatric case report—M.L. Giarrana a, S. Böttger b, B. Plecko a, T. Ehrenreich b, G. Wohlrab a (a Department of Paediatric Neurology, University Children’s Hospital, Zürich, Switzerland, b Department of General Paediatrics, University Children’s Hospital, Zürich, Switzerland) Aim: Anti-NMDA-receptor encephalitis is a rare autoimmune disease first described in 2007. One of the main challenges in daily clinical practise is its recognition and over the past years milder cases with primarily psychiatric symptoms have been recorded. So far clear treatment guidelines are missing and beside the paraneoplastic association with ovarial teratoma little is known on the origin of the underlying autoimmune process. Methods: Case report. Results: We present the case of a 12 years old girl who after a prodromal phase of 2–3 weeks with a strange gaze, anxiety and discrete articulation problems developed an episode with agitation and confusion lasting for a few hours; within the following days epileptic seizures and severe speech problems emerged. Movement disorders, autonomic instability, decreased consciousness or memory disturbances were missing. NMDAR antibodies in serum were negative. Lumbar puncture showed mild mononuclear pleocytosis, normal protein and an elevated NMDAR antibody titer. Cerebral MRI was normal, EEG showed slowing in the temporal regions. Treatment with high dose steroids and IVIG led to marked and rapid improvement within 1 week. IVIG therapy will be repeated after 1 month and steroids will be continued up to 3 months.