Therapeutic approach to neurological manifestations of Angelman syndrome.
Michele AscoliMaurizio EliaSara GaspariniPaolo BonanniGiovanni MastroianniVittoria CianciSabrina NeriAngelo PascarellaDomenico SantangeloUmberto AgugliaEdoardo FerlazzoPublished in: Expert review of clinical pharmacology (2022)
Evidence for the treatment of neurological manifestations in AS mainly derives from poor quality studies (case reports, small case series, expert opinions). Seizures can be polymorphic and includes atypical absences, myoclonic, generalized tonic-clonic, unilateral clonic, or atonic attacks. Sodium valproate, levetiracetam, and benzodiazepines are the most commonly used anti-seizure medications. Melatonin or mirtazapine seem to improve sleep quality. Antipsychotics, antidepressants, and anxiolytics have been proposed for the treatment of behavioral manifestations, but no evidence-based studies are available. Non-pharmacological approach may also be useful. Mild dystonia is common but usually does not significantly impact patients' motor performances. Well-conducted clinical trials aimed to evaluate treatment of neurological complications of AS are warranted. Gene and molecular precision therapies represent a fascinating area of research in the future.