Badanie padaczki w zespole Angelmana: Spostrzeżenia na podstawie danych zebranych od opiekunów w bazie danych LEADER

BACKGROUND: Epilepsy is a core feature of Angelman syndrome (AS) and a major contributor to morbidity and caregiver burden. The current study provides updated caregiver-reported data on seizure characteristics, triggers, and management in AS. METHODS: Caregivers of 130 individuals with AS enrolled in the Linking Angelman and Dup15q Data for Expanded Research Database completed an online questionnaire assessing seizure characteristics, age at first seizure and diagnosis, perceived triggers, and management strategies. Participants were grouped by molecular subtype (deletion vs nondeletion). Descriptive statistics and group comparisons were conducted. RESULTS: Seizures were more frequently reported in individuals with deletion subtypes compared to those with nondeletion subtypes. The most common seizure-related manifestations (myoclonic, atonic, and atypical absence features) did not differ between groups. Individuals with deletion subtypes experienced earlier epilepsy diagnosis than those with nondeletion subtypes, though age at first seizure prompting medical attention did not differ significantly between the groups. About half of caregivers were unsure of seizure triggers; among identified triggers, illness or infection with a fever was most common. Pharmacologic treatment was the primary management approach, with levetiracetam most frequently reported. Side effects were the most common reason for medication discontinuation, and only 69% of caregivers reported access to or use of an acute seizure rescue medication. CONCLUSIONS: Caregiver-reported data from the Linking Angelman and Dup15q Data for Expanded Research Database provide an updated characterization of seizures in AS. Gaps in trigger identification and availability or use of rescue medications highlight opportunities to improve standard-of-care implementation in AS.