Psychiatric disorders in children with 16p11.2 deletion and duplication.

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State: Public
Version: Final published version
Serval ID
serval:BIB_7215F92283AE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Psychiatric disorders in children with 16p11.2 deletion and duplication.
Journal
Translational psychiatry
Author(s)
Niarchou M., Chawner SJRA, Doherty J.L., Maillard A.M., Jacquemont S., Chung W.K., Green-Snyder L., Bernier R.A., Goin-Kochel R.P., Hanson E., Linden DEJ, Linden S.C., Raymond F.L., Skuse D., Hall J., Owen M.J., Bree MBMVD
ISSN
2158-3188 (Electronic)
ISSN-L
2158-3188
Publication state
Published
Issued date
16/01/2019
Peer-reviewed
Oui
Volume
9
Number
1
Pages
8
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Abstract
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) whether deletion and duplication carriers differ in frequency of psychopathology. 217 deletion carriers, 77 deletion family controls, 114 duplication carriers, and 32 duplication family controls participated in the study. Measures included standardized research diagnostic instruments. Deletion carriers had a higher frequency of any psychiatric disorder (OR = 8.9, p < 0.001), attention deficit hyperactivity disorder (ADHD) (OR = 4.0, p = 0.01), and autism spectrum disorder (ASD) (OR = 39.9, p = 0.01) than controls. Duplication carriers had a higher frequency of any psychiatric diagnosis (OR = 5.3, p = 0.01) and ADHD (OR = 7.0, p = 0.02) than controls. The prevalence of ASD in child carriers of deletions and duplications was similar (22% versus 26%). Comparison of the two CNV groups indicated a higher frequency of ADHD in children with the duplication than deletion (OR = 2.7, p = 0.04) as well as a higher frequency of overall psychiatric disorders (OR = 2.8, p = 0.02) and psychotic symptoms (OR = 4.7, p = 0.02). However, no differences between deletion and duplications carriers in the prevalence of ASD were found. Both deletion and duplication are associated with an increased risk of psychiatric disorder, supporting the importance of early recognition, diagnosis, and intervention in these groups.
Keywords
Adolescent, Attention Deficit Disorder with Hyperactivity/diagnosis, Attention Deficit Disorder with Hyperactivity/genetics, Autism Spectrum Disorder/diagnosis, Autism Spectrum Disorder/genetics, Case-Control Studies, Child, Child, Preschool, Chromosome Duplication, Chromosomes, Human, Pair 16/genetics, DNA Copy Number Variations, Female, Heterozygote, Humans, Male, Sequence Deletion
Pubmed
Web of science
Open Access
Yes
Create date
31/01/2019 9:09
Last modification date
20/08/2019 14:30
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