Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome.

• Type of Material: Article
• Authors: Opal Ousley, Emory University; A. Nichole Evans, Children's Healthcare of Atlanta; Samuel Fernandez Carriba, Emory University; Erica L. Smearman, Emory University; Kimberly Rockers, Emory Autism Center; Michael Morrier, Emory University; David W. Evans, Bucknell University; Karlene Coleman, Children's Healthcare of Atlanta; Joseph Cubells, Emory University
• Language: English
• Date: 2017-05-18
• Publisher: Emory University Libraries
• Publication Version: Final Published Version
• Copyright Statement: 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. (CC BY 4.0).
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3390/ijms18051071
• Title of Journal or Parent Work: International Journal of Molecular Sciences
• Volume: 18
• Issue: 5
• Grant/Funding Information: The NARSAD award provided some funds for open access publishing.; This work was supported in part by the Robert W. Woodruff Foundation, Predictive Medicine Grant, awarded to Cubells and Ousley; a Simons Foundation Junior Investigator Award and a NARSAD award to Ousley.
• Keywords: 22q11.2 deletion; Research Domain Criteria; autism; CNV; autism spectrum; diagnosis; copy number variation; RDoC
• Research Categories: Biology, Genetics; Health Sciences, Epidemiology

Abstract

22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults (n = 56) with 22q11.2DS, who were ascertained irrespective of parents' behavioral or developmental concerns, and found that 17.9% (n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.