Epilepsi och sömn vid Angelman syndrom

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

Chiara Sueri et al: Epilepsy and Behavior, 2017-10-01, Volume 75, Pages 225-229

Artikeln beskriver epilepsi och sömn över tid hos 46 personer med Angelman syndrom. Epilepsi och i viss mån sömnstörning minskade över tid. Studien indikerar även att det går att minska epilepsimedicinering trots avvikande EEG-mönster. 

 The aim and the method: The purpose of this study was to assess the long term outcome of epilepsy in Angelman syndrome patients (AS), changes in their EEG and sleep problems. This was a retrospective study.

45 Angelman syndrome patients aged 14–45 years were included. The study took place in 3 separate tertiary care centers during a 16 year period. 91.3% of the AS had seizures in infancy/childhood, the seizures improved over the years in all subjects-64% became seizure around age of 10 years. 8/42 had myoclonic status epilepticus during infancy and childhood, 17/42 had tonic–clonic seizures, 6/42 had focal seizures, 15/42 had myoclonic seizures and 12/42 had absence seizures. At the last visit to the tertiary care center 15/42 AS still had epileptic seizures. Cortical tremor was common and persisted, seen in 37/43 of AS at the last visit in the tertiary care center. Valproic acid was the most antiepileptic drug 45% alone/with benzodiazepines, ethosuximide. Some patients had phenobarbital, lamotrigine, levetiracetam and/or topiramate to control their seizures. 84.8% had sleep disorders in childhood, out of which 69% improved over the years. 76.9% of the patients with sleep disorders received treatment during childhood: niaprazine, risperidone, melatonin, pericyazine, levomepromazine, and clonazepam. EEG showed typical Angelman syndrome patterns in 76.1%. Typical awake EEG described meant in this study a) Diffuse theta-delta waves and spike–wave discharges with anterior predominance b) prolonged runs of diffuse mid-voltage theta waves c) spike–wave discharges appearing at eye closure. Slow background activity was evident in 65% of the patients in infancy or childhood and in 54% of the patients during the last visit to the tertiary care center. The typical AS EEG pattern persisted on the last visit the the study center, but 63% AS were seizure-free, 26% had persisting seizures, and 11% never had seizures. During the sleep SWI (spike-wave-index) was higher than in wakefulness.

Conclusion: This study suggests that Angelman syndrome patients have favorable long term outcome with epilepsy and sleep problems also slightly get better. The typical Angelman EEG pattern persists past childhood. Antiepileptic drug withdrawal might be considered despite the persistence of epileptiform abnormalities.

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