title: Long-term outcome of epilepsy in patients with Prader-Willi syndrome.
abstract: Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.
authors.affiliation: Department of Pediatrics, University of Perugia, Perugia, Italy, averrott@unich.it.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cusmai
authors.forename: Daniela
authors.initials: D
authors.lastname: Laino
authors.forename: Marco
authors.initials: M
authors.lastname: Carotenuto
authors.forename: Maria
authors.initials: M
authors.lastname: Esposito
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
authors.forename: Lucia
authors.initials: L
authors.lastname: Margari
authors.forename: Renata
authors.initials: R
authors.lastname: Rizzo
authors.forename: Salvatore
authors.initials: S
authors.lastname: Savasta
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Belcastro
authors.forename: Emilio
authors.initials: E
authors.lastname: Franzoni
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
authors.forename: Elena
authors.initials: E
authors.lastname: Freri
authors.forename: Sara
authors.initials: S
authors.lastname: Matricardi
authors.forename: Dario
authors.initials: D
authors.lastname: Pruna
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Tozzi
authors.forename: Lucio
authors.initials: L
authors.lastname: Lobefalo
authors.forename: Francesca
authors.initials: F
authors.lastname: Operto
authors.forename: Emma
authors.initials: E
authors.lastname: Altobelli
authors.forename: Francesco
authors.initials: F
authors.lastname: Chiarelli
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004569:Electroencephalography; D004828:Epilepsies, Partial / Q000188:drug therapy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology*; D004829:Epilepsy, Generalized / Q000188:drug therapy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017063:Outcome Assessment, Health Care; D011218:Prader-Willi Syndrome / Q000150:complications / Q000473:pathology / Q000503:physiopathology*