Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

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 character...

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Bibliographic Details
Published in:British journal of psychiatry 2018-05, Vol.212 (5), p.287-294
Main Authors: Thygesen, Johan H., Wolfe, Kate, McQuillin, Andrew, Viñas-Jornet, Marina, Baena, Neus, Brison, Nathalie, D'Haenens, Greet, Esteba-Castillo, Susanna, Gabau, Elisabeth, Ribas-Vidal, Núria, Ruiz, Anna, Vermeesch, Joris, Weyts, Eddy, Novell, Ramon, Buggenhout, Griet Van, Strydom, André, Bass, Nick, Guitart, Miriam, Vogels, Annick
Format: Article
Language:English
Subjects:
Adult
Adults
Autism
Child Development Disorders, Pervasive - epidemiology
Child Development Disorders, Pervasive - genetics
Chromosomes
Comorbidity
Copy number
DNA Copy Number Variations - genetics
Europe - epidemiology
Female
Genes
Genetics
Humans
Intellectual disabilities
Intellectual Disability - epidemiology
Intellectual Disability - genetics
Male
Medical records
Mental disorders
Mental Disorders - epidemiology
Mental Disorders - genetics
Microarray Analysis
Middle Aged
Neurodevelopmental disorders
People with disabilities
Psychiatrists
Psychiatry
Risk factors
Schizophrenia
Schizophrenia - epidemiology
Schizophrenia - genetics
Variants
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Description
Summary: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.AimsTo 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
ISSN:0007-1250
1472-1465
DOI:10.1192/bjp.2017.65