serval:BIB_7215F92283AE
Psychiatric disorders in children with 16p11.2 deletion and duplication.
10.1038/s41398-018-0339-8
000473153900003
30664628
Niarchou
M.
author
Chawner
SJRA
author
Doherty
J.L.
author
Maillard
A.M.
author
Jacquemont
S.
author
Chung
W.K.
author
Green-Snyder
L.
author
Bernier
R.A.
author
Goin-Kochel
R.P.
author
Hanson
E.
author
Linden
DEJ
author
Linden
S.C.
author
Raymond
F.L.
author
Skuse
D.
author
Hall
J.
author
Owen
M.J.
author
Bree
MBMVD
author
article
2019-01-16
Translational psychiatry
2158-3188
2158-3188
journal
9
1
8
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.
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
eng
60_published
true
peer-reviewed
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: epublish
University of Lausanne
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