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

Johan H. Thygesen, Kate Wolfe, Andrew McQuillin, Marina Viñas-Jornet, Neus Baena, Nathalie Brison, Greet D’Haenens, Susanna Esteba-Castillo, Elisabeth Gabau, Núria Ribas-Vidal, Anna Ruiz, Joris Vermeesch, Eddy Weyts, Ramon Novell, Griet Van Buggenhout, André Strydom, Nick Bass, Miriam Guitart, Annick Vogels

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    10 Citations (Scopus)

    Abstract

    © The Royal College of Psychiatrists 2018. Background 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. Aims To determine the type and frequency of CNVs in adults with intellectual disabilities and comorbid psychiatric disorders. Method A chromosomal microarray analysis of 599 adults recruited from intellectual disabilities psychiatry services at three European sites. Results 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. Conclusions 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.
    Original languageEnglish
    Pages (from-to)287-294
    JournalBritish Journal of Psychiatry
    Volume212
    Issue number5
    DOIs
    Publication statusPublished - 1 May 2018

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    Thygesen, J. H., Wolfe, K., McQuillin, A., Viñas-Jornet, M., Baena, N., Brison, N., D’Haenens, G., Esteba-Castillo, S., Gabau, E., Ribas-Vidal, N., Ruiz, A., Vermeesch, J., Weyts, E., Novell, R., Van Buggenhout, G., Strydom, A., Bass, N., Guitart, M., & Vogels, A. (2018). Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. British Journal of Psychiatry, 212(5), 287-294. https://doi.org/10.1192/bjp.2017.65