[en] [en] OBJECTIVE: We aimed to assess a cohort of young patients with Dravet syndrome (DS) for intellectual disability (ID) and autism spectrum disorder (ASD) using standardized tools and parental questionnaires to delineate their specific profiles.
METHODS: We included 35 patients with DS aged 24 months to 7 years, excluding patients with a developmental age (DA) <18 months (n = 5). We performed specific tests adapted for ID (Psychoeducational Profile, Third Edition [PEP-3]), in addition to the Child Development Inventory (CDI) and Vineland Adaptive Behavior Scales, Second Edition (VABS-II) questionnaires. We used 2 standardized tools for ASD: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) and the Autism Diagnostic Interview-Revised (ADI-R). We compared the with parental questionnaires and the VABS-II, and with ASD characteristics.
RESULTS: PEP-3 subscales showed pathologic development in all but one patient (97%): ID in 23 of 30 (77%), and borderline cognitive functioning in 6 of 30 (22%). Eleven patients (39%) had ASD and 2 (7%) had a Social Communication Disorder (SCD) diagnosis. We found no difference between PEP-3 and CDI categorization except for fine motor skills. We found significant negative correlations between ADOS-2 and PEP-3 for the majority of scores. For patients aged older than 50 months, 2 groups emerged (ASD/no ASD) with significant difference in DA. The logistic regression for ASD diagnosis explained by VABS-II showed a significant effect for Socialization, Motor Skills, and Adaptive Behavior.
SIGNIFICANCE: We found a high prevalence of ID in patients with DS. ID is characterized by expressive and comprehensive communication deficits in addition to visuospatial difficulties. ASD showed a specific profile with a relative preservation of social skills, emphasizing a possible underdiagnosis. Parental questionnaires can provide a good assessment of cognitive profile and might allow the difficulty of addressing cognitive scales in DS to be overcome. The profile of ID and ASD should help to establish early adapted rehabilitation programs and emphasizes the global need for care beyond seizures in DS and other developmental epileptic encephalopathies.
Disciplines :
Psychiatry
Author, co-author :
Ouss, Lisa ; Université de Liège - ULiège > Département des sciences cliniques > Psychiatrie infanto-juvénile ; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France ; Child Psychiatry Unit Necker Enfants Malades Hospital Paris France
Leunen, Dorothee; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France ; Child Psychiatry Unit Necker Enfants Malades Hospital Paris France
Laschet, Jacques; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France
Chemaly, Nicole; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France
Barcia, Giulia; Department of Medical Genetics Necker Enfants Malades Hospital APHP Paris France
Losito, Emma M; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France
Aouidad, Aveline; Department of Child and Adolescent Psychiatry APHP Pitié-Salpêtrière Hospital Paris France
Barrault, Zoe; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France
Desguerre, Isabelle; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France
Breuillard, Delphine; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France
Nabbout, Rima; Reference Centre for Rare Epilepsies Department of Pediatric Neurology Necker Enfants Malades Hospital APHP Paris Descartes University Imagine Institute Paris France
Language :
English
Title :
Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.
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