2026-04-13T02:18:22Zhttps://recercat.cat/oai/request
oai:recercat.cat:2072/4552642026-03-13T07:02:44Zcom_2072_98col_2072_378192
RECERCAT author Thygesen, Johan H. author Wolfe, Kate author McQuillin, Andrew author Viñas Jornet, Marina author Baena Díez, Neus author Brison, Nathalie author D'Haenens, Greet author Esteba-Castillo, Susanna author Gabau, Elisabeth author Ribas-Vidal, Núria author Ruiz, Anna author Vermeesch, Joris author Weyts, Eddy author Novell, Ramon author Buggenhout, Griet Van author Strydom, André author Bass, Nicholas author Guitart, Maria author Vogels, Annick author Universitat Autònoma de Barcelona 2018 Copy number variants (CNVs) are established risk factors for neurodevelopmental disorders. To date the study of CNVs in psychiatric illness has focused on single disorder populations. The role of CNVs in individuals with intellectual disabilities and psychiatric comorbidities are less well characterised. To determine the type and frequency of CNVs in adults with intellectual disabilities and comorbid psychiatric disorders. A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites. The yield of pathogenic CNVs was high - 13%. Focusing on established neurodevelopmental disorder risk loci we find a significantly higher frequency in individuals with intellectual disabilities and comorbid psychiatric disorder (10%) compared with healthy controls (1.2%, P <0.0001), schizophrenia (3.1%, P <0.0001) and intellectual disability/autism spectrum disorder (6.5%, P < 0.00084) populations. In the largest sample of adults with intellectual disabilities and comorbid psychiatric disorders to date, we find a high rate of pathogenic CNVs. This has clinical implications for the use of genetic investigations in intellectual disability psychiatry. None. open access Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. https://creativecommons.org/licenses/by/4.0/ Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders Article