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Autism Research and Treatment
Volume 2017 (2017), Article ID 9371964, 9 pages
Research Article

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism

1University of Washington School of Medicine, Seattle, WA 91895, USA
2School of Psychology, Family, and Community, Seattle Pacific University, Seattle, WA 98119, USA
3Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 91895, USA
4Department of Genome Sciences, University of Washington, Seattle, WA 91895, USA
5Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA
6Howard Hughes Medical Institute, Seattle, WA 91895, USA

Correspondence should be addressed to Raphael A. Bernier

Received 14 June 2017; Revised 27 September 2017; Accepted 11 October 2017; Published 8 November 2017

Academic Editor: Valsamma Eapen

Copyright © 2017 Kyleen Luhrs et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD) with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, ), de novo deletion copy number variations (DEL, ), de novo likely gene-disrupting mutations (LGDM, ), and children without a known genetic etiology (NON, ). Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships.