Epilepsy and sleep disorders improve in adolescents and adults with Angelman syndrome: A multicenter study on 46 patients.

摘要: Abstract Objective Actual knowledge on evolution of Angelman syndrome (AS) relies questionnaire-based cohort studies, phone interviews, or small retrospective studies focused specific clinical–genetic features. These reports provide conflicting results. The aim this study was to assess the long-term outcome epilepsy, sleep disorders, and EEG in a vast series AS subjects. Methods We collected patients with genetically confirmed AS, aged ≥ 14 years, followed three tertiary epilepsy Centers attending meetings Italian Organization for (OrSA). Retrospective clinical data were retrieved from hospital archives family documents. At index evaluation (IE) (last visit at single during OrSA meetings), caregivers interviewed about anamnestic filled questionnaires disorders daily-living skills. Patients underwent general neurologic evaluation, video-EEG recordings. All available EEGs analyzed compare spike–wave (SWI) over years. Results Forty-six subjects 14–45 years included: 24 Centers, 22 meetings. During childhood, 42/46 (91.3%) had seizures, which improved years all Among 27(64%) became seizure-free median age 10 years 4 remained even after antiepileptic withdrawal. 39/46 (84.8%) 27/39 (69%) IE, skills corresponded age ≤ 1.6 years 29/46 (63%). Electroencephalogram showed typical patterns 35/46 (76.1%). In recorded 10 patients, SWI not significantly different between infancy/childhood adolescence/adulthood. Conclusion Improvement should disregard suspicion adolescent adult suggestive Drug withdrawal might be considered management despite persistence epileptiform abnormalities.