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Author Notes:

Correspondence: oousley@emory.edu ; Tel.: +1-404-727-8350

Opal Ousley and Joseph Cubells conceived and designed the experiments; Kimberly Rockers, Samuel Fernandez-Carriba, and Michael J. Morrier performed the experiments; Opal Ousley, A. Nichole Evans, Samuel Fernandez-Carriba, Erica L. Smearman, Kimberly Rockers and Karlene Coleman contributed to the data analysis; Opal Ousley, A. Nichole Evans, David W. Evans and Joseph Cubells contributed to the interpretation of the data analysis; all authors contributed to writing and editing the paper.

We would like to thank Karen Wallace (Emory Autism Center, Department of Psychiatry and Behavioral Sciences, Emory School of Medicine, Atlanta, GA, USA) for her assistance in recruiting families and organizing the study.

In addition, we would like to express our gratitude to all children, adults, and families who participated in the study.

The authors declare no conflict of interest.

The founding sponsors had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.


Research Funding:

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.


  • 22q11.2 deletion
  • CNV
  • RDoC
  • Research Domain Criteria
  • autism
  • autism spectrum
  • copy number variation
  • diagnosis

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


Journal Title:

International Journal of Molecular Sciences


Volume 18, Number 5


Type of Work:

Article | Final Publisher PDF


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.

Copyright information:

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).

This is an Open Access work distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/).
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