By Todd A. Ward, PhD, BCBA-D
Founding Editor, bSci21.org
What is the best way to diagnose autism? That was the question asked by Dr. Stephen Scherer and colleagues in a study published in the Journal of the American Medical Association, and succinctly summarized in Time Magazine.
Traditional methods of diagnosing autism rely on behavioral and psychological assessments of developmental milestones, and measures of social and communication skills. However, researchers such as Scherer are interested in developing genetically-based diagnostic tools.
Scherer’s group compared two types of genetic testing with 258 children diagnosed with autism: chromosomal microarray analysis (CMA) and whole-exome sequencing (WES). Though both detected autism at similar levels, “the two genetic tests pick up markers for different kinds of autism….together the two gene-based tests can diagnose nearly 16% of cases.” When combined with brain imaging, diagnostic rates increased to 37.5%
Even so, Scherer recommends behavioral tests for an initial diagnosis, followed by a chromosomal test “to see if it yields any additional information about a connection to autism.”
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Todd A. Ward, PhD, BCBA-D is President of bSci21 Media, LLC, which owns bSci21.org and BAQuarterly.com. Todd serves as an Associate Editor of the Journal of Organizational Behavior Management and as an editorial board member for Behavior and Social Issues. He has worked as a behavior analyst in day centers, residential providers, homes, and schools, and served as the director of Behavior Analysis Online at the University of North Texas. Todd’s areas of expertise include writing, entrepreneurship, Acceptance & Commitment Therapy, Instructional Design, Organizational Behavior Management, and ABA therapy. Todd can be reached at firstname.lastname@example.org.