Psychiatric disorders in children with 16p11.2 deletion and duplication.
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ABSTRACT:
SUBMITTER: Niarchou M
PROVIDER: S-EPMC6341088 | biostudies-literature | 2019 Jan
REPOSITORIES: biostudies-literature
Publications
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Niarchou Maria M Chawner Samuel J R A SJRA Doherty Joanne L JL Maillard Anne M AM Jacquemont Sébastien S Chung Wendy K WK Green-Snyder LeeAnne L Bernier Raphael A RA Goin-Kochel Robin P RP Hanson Ellen E Linden David E J DEJ Linden Stefanie C SC Raymond F Lucy FL Skuse David D Hall Jeremy J Owen Michael J MJ Bree Marianne B M van den MBMVD
Translational psychiatry 20190116 1
Deletion and duplication of 16p11.2 (BP4-BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the first study to compare the frequency of a broad spectrum of psychiatric disorders in children with 16p11.2 deletion and duplication. We aimed to evaluate (1) the nature and prevalence of psychopathology associated with copy number variation (CNV) in children with 16p11.2 by comparing deletion and duplication carriers with family controls; (2) ...[more]
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Project description:Copy number variants are amongst the most highly penetrant risk factors for psychopathology and neurodevelopmental deficits, but little information about the detailed clinical phenotype associated with particular variants is available. We present the largest study of the microdeletion and -duplication at the distal 1q21 locus, which has been associated with schizophrenia and intellectual disability, in order to investigate the range of psychiatric phenotypes. Clinical and cognitive data from 68 deletion and 55 duplication carriers were analysed with logistic regression analysis to compare frequencies of mental disorders between carrier groups and controls, and linear mixed models to compare quantitative phenotypes. Both children and adults with copy number variants at 1q21 had high frequencies of psychopathology. In the children, neurodevelopmental disorders were most prominent (56% for deletion, 68% for duplication carriers). Adults had increased prevalence of mood (35% for deletion [OR = 6.6 (95% CI: 1.4-40.1)], 55% for duplication carriers [8.3 (1.4-55.5)]) and anxiety disorders (24% [1.8 (0.4-8.4)] and 55% [10.0 (1.9-71.2)]). The adult group, which included mainly genetically affected parents of probands, had an IQ in the normal range. These results confirm high prevalence of neurodevelopmental disorders associated with CNVs at 1q21 but also reveal high prevalence of mood and anxiety disorders in a high-functioning adult group with these CNVs. Because carriers of neurodevelopmental CNVs who show relevant psychopathology but no major cognitive impairment are not currently routinely receiving clinical genetic services widening of genetic testing in psychiatry may be considered.
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