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Direct linkDemily, Caroline; Lesca, Gaétan; Poisson, Alice; Till, Marianne; Barcia, Giulia; Chatron, Nicolas; Sanlaville, Damien; Munnich, Arnold – Journal of Autism and Developmental Disorders, 2018
The "22q11.2 duplication" is a variably penetrant copy number variant (CNV) associated with a broad spectrum of clinical manifestations including autism spectrum disorders (ASD), and epilepsy. Here, we report on pathogenic "HUWE1" and "KIF1A" mutations in two severely affected ASD/ID participants carrying a 22q11.2…
Descriptors: Autism, Pervasive Developmental Disorders, Genetics, Epilepsy
Folch, Annabel; Salvador-Carulla, Luis; Vicens, Paloma; Cortés, Maria José; Irazábal, Marcia; Muñoz, Silvia; Rovira, Lluís; Orejuela, Carmen; González, Juan A.; Martínez-Leal, Rafael – Journal of Applied Research in Intellectual Disabilities, 2019
Background: The aim of this paper was to summarize the main results of the POMONA-ESP project, the first study to explore health status in a large representative, randomized and stratified sample of people with intellectual developmental disorders in Spain. Methods: The POMONA-ESP project collected information about the health of 953 individuals…
Descriptors: Health, Intellectual Disability, Health Services, Drug Therapy
