The best way to diagnose autism is…

By Todd A. Ward, PhD, BCBA-D

Founding Editor,

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.”

Be sure to read more about the study on the JAMA website, as well as Time, and let us know your thoughts on genetic testing in the comments below.

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3 Comments on "The best way to diagnose autism is…"

  1. richard laitinen | September 3, 2015 at 7:26 am | Reply

    It is good to remember that “autism” has not yet been shown to be a thing (though the word functions as a noun). Traditional quests for a biological or psychological “marker” that is unvarying and determinant have fallen far from the mark for decades, even as the sophistication of the tools developed and employed toward that task. This is likely to continue for decades to come because, in all likelihood, what we tact as “autism” is a multivariate phenomenon reifying over time.

    We do know that the syndrome presents as a cloud of variance of behavioral and ability variables within a factor space, and that’s about it. As behavior analysts we might contribute to a refinement of diagnostic efforts by refining our preparations for identifying the types and range of learning challenges presented by any one individual. After all, the remediation of those challenges is the sine qua non of our field. Peter Killeen’s work on the quantification of “ADHD” is an example of how behavior analysts might approach the task of refining the diagnosing “autism”; that is, not as a “thing” but as a presentation of learning barriers that require identification and modification.

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