title: Cognitive characterization of children with Dravet syndrome: A neurodevelopmental perspective.
abstract: Dravet syndrome (DS) is an epilepsy of infantile onset, usually related to a mutation in gene sodium channel alpha 1 subunit, that leads to different typological seizures before the first year of life. Although most research has focused on the clinical description of the syndrome, some recent studies have focused on its impact on cognitive development, identifying both motor disorders and visual-processing deficits as basic factors affected in adults and children with DS. In this article, we designed a cross-sectional study to examine the cognitive phenotype of children affected by DS from a neurodevelopmental perspective. We report measures for both basic (auditory perception, visual and phonological processing, motor coordination) and higher order cognitive processes (verbal production, categorization, and executive function) in two age groups of DS children (M = 8.8 and M = 14.1) and control children of the same chronological age. Results showed an important cognitive delay in DS children with respect to controls in both basic and higher order cognitive abilities, with a better general outcome in tasks that required processing visual material (visual memory and categorization) than in tasks involving verbal material. In addition, performance of DS children in certain basic tasks (visual memory) correlated with performance on complex ones (categorization). These findings encourage promoting an early identification of not only clinical but also cognitive features in DS children from very early stages of development in order to optimize their neurodevelopmental outcome.
authors.affiliation: a Department of Basic Cognitive Processes , University of the Basque Country Universidad del País Vasco/Euskal Herriko Unibertsitatea (UPV/EHU) , Donostia , Spain.
authors.forename: Joana
authors.initials: J
authors.lastname: Acha
authors.forename: Alejandro
authors.initials: A
authors.lastname: Pérez
authors.forename: Doug J
authors.initials: DJ
authors.lastname: Davidson
authors.forename: Manuel
authors.initials: M
authors.lastname: Carreiras
mesh_terms: D000328:Adult; D001307:Auditory Perception / Q000502:physiology; D016022:Case-Control Studies; D002648:Child; D002657:Child Development; D003071:Cognition / Q000502:physiology*; D003072:Cognition Disorders / Q000209:etiology / Q000503:physiopathology* / Q000523:psychology*; D003430:Cross-Sectional Studies; D004314:Down Syndrome; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000503:physiopathology* / Q000523:psychology*; D056344:Executive Function; D005260:Female; D006801:Humans; D008297:Male; D008568:Memory; D009483:Neuropsychological Tests; D012640:Seizures
keywords: Brain development; Dravet syndrome; Executive function; Verbal production; Working memory