Chiara Sueri1, Edoardo Ferlazzo2, Maurizio Elia3, Paolo Bonanni4, Giovanna Randazzo4, Sara Gasparini5, Tiziana D'Agostino1, Antonino R Sapone1, Michele Ascoli6, Marina A Bellavia6, Vittoria Cianci1, Antonio Gambardella6, Angelo Labate6, Umberto Aguglia5. 1. Regional Epilepsy Center, "Bianchi-Melacrino-Morelli" Hospital, Reggio Calabria, Italy. 2. Regional Epilepsy Center, "Bianchi-Melacrino-Morelli" Hospital, Reggio Calabria, Italy; Department of Medical and Surgical Sciences, "Magna Græcia" University of Catanzaro, Italy. Electronic address: ferlazzo@unicz.it. 3. Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina, EN, Italy. 4. Epilepsy and Clinical Neurophysiology Unit, Scientific Institute IRCCS "Eugenio Medea", Conegliano, TV, Italy. 5. Regional Epilepsy Center, "Bianchi-Melacrino-Morelli" Hospital, Reggio Calabria, Italy; Department of Medical and Surgical Sciences, "Magna Græcia" University of Catanzaro, Italy. 6. Department of Medical and Surgical Sciences, "Magna Græcia" University of Catanzaro, Italy.
Abstract
OBJECTIVE: Actual knowledge on evolution of Angelman syndrome (AS) relies on questionnaire-based cohort studies, phone interviews, or small retrospective cohort studies focused on specific clinical-genetic features. These reports provide conflicting results. The aim of this study was to assess the long-term outcome of epilepsy, sleep disorders, and EEG in a vast series of AS subjects. METHODS: We collected patients with genetically confirmed AS, aged ≥14years, followed in three tertiary epilepsy Centers or attending the meetings of the Italian Organization for AS (OrSA). Retrospective clinical and EEG data were retrieved from hospital archives or family documents. At index evaluation (IE) (last visit at tertiary Centers or single visit during OrSA meetings), caregivers were interviewed about anamnestic data and filled questionnaires on sleep disorders and daily-living skills. Patients underwent general and neurologic evaluation, and video-EEG recordings. All available EEGs were analyzed to compare evolution of spike-wave index (SWI) over the years. RESULTS: Forty-six subjects aged 14-45years were included: 24 from tertiary Centers, 22 from OrSA meetings. During childhood, 42/46 (91.3%) had seizures, which improved over the years in all subjects. Among patients with epilepsy, 27(64%) became seizure-free at a median age of 10years and 4 remained seizure-free even after antiepileptic withdrawal. During childhood, 39/46 (84.8%) had sleep disorders, which improved in 27/39 (69%) over the years. At IE, daily-living skills corresponded to age≤1.6years in 29/46 (63%). Electroencephalogram showed typical AS patterns in 35/46 (76.1%). In EEGs recorded from 10 patients, SWI was not significantly different between infancy/childhood and adolescence/adulthood. CONCLUSION: Improvement of epilepsy or sleep disorders should not disregard the clinical suspicion of AS in adolescent or adult patients with suggestive features. Drug withdrawal might be considered in the management of epilepsy despite the persistence of epileptiform abnormalities.
OBJECTIVE: Actual knowledge on evolution of Angelman syndrome (AS) relies on questionnaire-based cohort studies, phone interviews, or small retrospective cohort studies focused on specific clinical-genetic features. These reports provide conflicting results. The aim of this study was to assess the long-term outcome of epilepsy, sleep disorders, and EEG in a vast series of AS subjects. METHODS: We collected patients with genetically confirmed AS, aged ≥14years, followed in three tertiary epilepsy Centers or attending the meetings of the Italian Organization for AS (OrSA). Retrospective clinical and EEG data were retrieved from hospital archives or family documents. At index evaluation (IE) (last visit at tertiary Centers or single visit during OrSA meetings), caregivers were interviewed about anamnestic data and filled questionnaires on sleep disorders and daily-living skills. Patients underwent general and neurologic evaluation, and video-EEG recordings. All available EEGs were analyzed to compare evolution of spike-wave index (SWI) over the years. RESULTS: Forty-six subjects aged 14-45years were included: 24 from tertiary Centers, 22 from OrSA meetings. During childhood, 42/46 (91.3%) had seizures, which improved over the years in all subjects. Among patients with epilepsy, 27(64%) became seizure-free at a median age of 10years and 4 remained seizure-free even after antiepileptic withdrawal. During childhood, 39/46 (84.8%) had sleep disorders, which improved in 27/39 (69%) over the years. At IE, daily-living skills corresponded to age≤1.6years in 29/46 (63%). Electroencephalogram showed typical AS patterns in 35/46 (76.1%). In EEGs recorded from 10 patients, SWI was not significantly different between infancy/childhood and adolescence/adulthood. CONCLUSION: Improvement of epilepsy or sleep disorders should not disregard the clinical suspicion of AS in adolescent or adult patients with suggestive features. Drug withdrawal might be considered in the management of epilepsy despite the persistence of epileptiform abnormalities.
Authors: Robert P Carson; Lynne Bird; Anna K Childers; Ferrin Wheeler; Jessica Duis Journal: Mol Genet Genomic Med Date: 2019-08-10 Impact factor: 2.183
Authors: Jayne Trickett; Chris Oliver; Mary Heald; Hayley Denyer; Andrew Surtees; Emma Clarkson; Paul Gringras; Caroline Richards Journal: Front Psychiatry Date: 2019-11-29 Impact factor: 4.157