title: Use of artificial intelligence to shorten the behavioral diagnosis of autism.
abstract: The Autism Diagnostic Interview-Revised (ADI-R) is one of the most commonly used instruments for assisting in the behavioral diagnosis of autism. The exam consists of 93 questions that must be answered by a care provider within a focused session that often spans 2.5 hours. We used machine learning techniques to study the complete sets of answers to the ADI-R available at the Autism Genetic Research Exchange (AGRE) for 891 individuals diagnosed with autism and 75 individuals who did not meet the criteria for an autism diagnosis. Our analysis showed that 7 of the 93 items contained in the ADI-R were sufficient to classify autism with 99.9% statistical accuracy. We further tested the accuracy of this 7-question classifier against complete sets of answers from two independent sources, a collection of 1654 individuals with autism from the Simons Foundation and a collection of 322 individuals with autism from the Boston Autism Consortium. In both cases, our classifier performed with nearly 100% statistical accuracy, properly categorizing all but one of the individuals from these two resources who previously had been diagnosed with autism through the standard ADI-R. Our ability to measure specificity was limited by the small numbers of non-spectrum cases in the research data used, however, both real and simulated data demonstrated a range in specificity from 99% to 93.8%. With incidence rates rising, the capacity to diagnose autism quickly and effectively requires careful design of behavioral assessment methods. Ours is an initial attempt to retrospectively analyze large data repositories to derive an accurate, but significantly abbreviated approach that may be used for rapid detection and clinical prioritization of individuals likely to have an autism spectrum disorder. Such a tool could assist in streamlining the clinical diagnostic process overall, leading to faster screening and earlier treatment of individuals with autism.
authors.affiliation: Center for Biomedical Informatics, Harvard Medical School, Boston, Massachusetts, United States of America. dpwall@hms.harvard.edu
authors.forename: Dennis P
authors.initials: DP
authors.lastname: Wall
authors.forename: Rebecca
authors.initials: R
authors.lastname: Dally
authors.forename: Rhiannon
authors.initials: R
authors.lastname: Luyster
authors.forename: Jae-Yoon
authors.initials: JY
authors.lastname: Jung
authors.forename: Todd F
authors.initials: TF
authors.lastname: Deluca
mesh_terms: D000293:Adolescent; D000328:Adult; D001185:Artificial Intelligence; D001321:Autistic Disorder / Q000175:diagnosis*; D001519:Behavior; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003663:Decision Trees; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008875:Middle Aged; D012189:Retrospective Studies; D011795:Surveys and Questionnaires; D013997:Time Factors; D055815:Young Adult