title: Cognitive development in children with Dravet syndrome.
abstract: Slowing of cognitive skills represents one of the diagnostic criteria of Dravet syndrome. This Italian multicentric study aims at clarifying the roles of epilepsy and/or underlying genetic alteration in determining the cognitive outcome. The study includes infants that were either in follow-up (retrospective study: 26 cases) and newly diagnosed (prospective study: in progress). Our multicentric study shows that slowing of cognitive achievements becomes evident during the second year of life in all cases, and that the epilepsy phenotype indeed has a prognostic value. In this study the early appearance of absences and myoclonic seizures is associated with the worst cognitive outcome; whereas convulsive prolonged seizures do not seem to represent, per se, a bad prognostic factor for mental outcome. In this study, statistical analysis failed to reveal differences in the cognitive outcome with regard to the presence and type of SCN1A mutation.
authors.affiliation: Department of Pediatric Neuroscience, IRCCS Foundation Neurological Institute C Besta, Milano, Italy. francesca.ragona@istituto-besta.it
authors.forename: Francesca
authors.initials: F
authors.lastname: Ragona
mesh_terms: D002648:Child; D002657:Child Development / Q000502:physiology*; D003072:Cognition Disorders / Q000150:complications* / Q000235:genetics; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000235:genetics; D005500:Follow-Up Studies; D006801:Humans; D015337:Multicenter Studies as Topic / Q000379:methods; D012189:Retrospective Studies; D013577:Syndrome