Objective: Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci.
Method: Analyses preemptively accounted for documented differences in sex and IQ in affected individuals with de novo mutations by matching probands with and without these genetic events on sex, IQ, and age before comparing them on multiple behavioral domains.
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The reader will explain the importance of adequately accounting for sex, age, and cognitive ability in the study of the genetic risk for autism spectrum disorder.
This program is designed for all psychiatrists in clinical practice, residents in Graduate Medical Education programs, medical students interested in psychiatry, and other physicians who wish to advance their current knowledge of clinical medicine.
Duration: 1 hour
Begin Date: June 1, 2017
End Date: May 31, 2019
In order to earn CME credit, subscribers should read through the material presented in the article. After reading the article, complete the quiz and submit your evaluation and study hours (up to 1 AMA PRA Category 1 Credit™). A score of 60% or higher is required to receive credit.
The American Psychiatric Association (APA) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
The APA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 Credit™. Physicians should only claim credit commensurate with the extent of their participation in the activity.
Title: Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder
Authors: Somer L. Bishop, Ph.D., Cristan Farmer, Ph.D., Vanessa Bal, Ph.D., Elise B. Robinson, Ph.D., A. Jeremy Willsey, Ph.D., Donna M. Werling, Ph.D., Karoline Alexandra Havdahl, Ph.D., Stephan J. Sanders, M.D., Ph.D., Audrey Thurm, Ph.D.
Affiliations: From the Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco (S.L.B., V.B., A.J.W., D.M.W., S.J.S.); the Pediatrics and Developmental Neuroscience Branch, NIMH, Bethesda, Md. (C.F., A.T.); the Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston (E.B.R.); the Stanley Center for Psychiatric Research and the Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Mass. (E.B.R.); and the MRC Integrative Epidemiology Unit at the University of Bristol, School of Social and Community Medicine, Bristol, U.K. (K.A.H.).
Disclosures: Dr. Bishop has received royalties from Western Psychological Services for the publication of the Autism Diagnostic Observation Schedule, 2nd Edition; all royalties received related to any research in which Dr. Bishop is involved are given to a not-for-profit agency. Dr. Willsey serves on an advisory panel for Daiichi Sankyo. The other authors report no financial relationships with commercial interests.
Discussion of unapproved or investigational use of products*: No.
*APA policy requires disclosure by CME authors of unapproved or investigational use of products discussed in CME programs. Off-label use of medications by individual physicians is permitted and common. Decisions about off-label use can be guided by scientific literature and clinical experience.
Robert Freedman, M.D. (Editor-in-Chief, AJP); Susan K. Schultz, M.D. (Deputy Editor, AJP); Michael D. Roy (Editorial Director, AJP); Michael A. Pogachar (Online Content Manager, Journals).
Dr. Schultz has received research support from the Alzheimer’s Disease Cooperative Study for projects conducted in partnership with Toyama Chemical Company and in partnership with Eli Lilly and Company. Dr. Freedman, Mr. Roy, and Mr. Pogachar report no financial relationships with commercial interests.
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