title: Electroclinical features and long-term outcome of cryptogenic epilepsy in children with Down syndrome.
abstract: OBJECTIVE
  To describe the electroclinical features and the long-term outcomes of epilepsy in a large cohort of males and females with Down syndrome who developed epilepsy in childhood.
  
  
  METHODS
  Subjects with Down syndrome and cryptogenic epilepsy with onset in childhood were identified retrospectively from the databases of 16 Italian epilepsy centers over a 40-year period. For each subject, age at onset of seizures, seizure semiology and frequency, electroencephalography characteristics, treatment with antiepileptic drugs, and long-term clinical and electroencephalography outcomes were analyzed.
  
  
  RESULTS
  A total of 104 subjects (64 males [61.5%], 40 females [38.5%]) were identified. Seizure onset occurred within 1 year of birth in 54 subjects (51.9%), between 1 and 12 years in 42 subjects (40.4%), and after 12 years in 8 subjects (7.7%). Males had a younger age of seizure onset than females. Of the 104 subjects, 51 (49.0%) had infantile spasms (IS), 35 (33.7%) had partial seizures (PS), and 18 (17.3%) had generalized seizures (GS). Febrile seizures were recorded in 5 (4.8%) subjects. Intractable seizures were observed in 23 (22.1%) subjects, including 5 (9.8%) with IS, 8 (44.4%) with PS, and 10 (31.3%) with GS.
  
  
  CONCLUSIONS
  Cryptogenic epilepsy in Down syndrome may develop during the first year of life in the form of IS or, successively, as PS or GS. Electroclinical features of IS resemble those of idiopathic West syndrome, with a favorable response to treatment with adrenocorticotropic hormone seen. Patients experiencing PS and GS may be resistant to therapy with antiepileptic drugs.
authors.affiliation: Department of Pediatrics, University of Perugia, Perugia, Italy.
authors.forename: Alberto
authors.initials: A
authors.lastname: Verrotti
authors.forename: Raffaella
authors.initials: R
authors.lastname: Cusmai
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.forename: Antonella
authors.initials: A
authors.lastname: Pizzolorusso
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Nelia
authors.initials: N
authors.lastname: Zamponi
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Cesaroni
authors.forename: Tiziana
authors.initials: T
authors.lastname: Granata
authors.forename: Ilaria
authors.initials: I
authors.lastname: De Giorgi
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Emilio
authors.initials: E
authors.lastname: Franzoni
authors.forename: Giangennaro
authors.initials: G
authors.lastname: Coppola
authors.forename: Caterina
authors.initials: C
authors.lastname: Cerminara
authors.forename: Paolo
authors.initials: P
authors.lastname: Curatolo
authors.forename: Salvatore
authors.initials: S
authors.lastname: Savasta
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Pasquale
authors.initials: P
authors.lastname: Parisi
authors.forename: Antonino
authors.initials: A
authors.lastname: Romeo
authors.forename: Alberto
authors.initials: A
authors.lastname: Spalice
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D004314:Down Syndrome / Q000150:complications*; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012189:Retrospective Studies; D013997:Time Factors
chemical_list: D000927:Anticonvulsants
keywords: ACTH; AED; Adrenocorticotropic hormone; Antiepileptic drug; CBZ; CLZ; Carbamazepine; Clonazepam; EEG; Electroencephalography; FBM; Felbamate; GS; Generalized seizures; IS; Infantile spasms; LEV; LGS; Lennox-Gastaut syndrome; Levetiracetam; NS; Not significant; PS; Partial seizures; VGB; VPA; Valproic acid; Vigabatrin