Project Detail
Interagency Autism Coordinating Committee (IACC) logo
Office of Autism Research Coordination (OARC) logo

Autism dysmorphology measure validity study  

The goal of this project is to delineate the clinical and genetic heterogeneity within the Autism Spectrum Disorder diagnosis so that prognoses, treatments, and preventive strategies can be implemented which are specific to each autism subgroup. To aide clinicians in identification of complex autism, researchers developed the Autism Dysmorphology Measure (ADM) which directs the clinician, following a brief, clothed examination, to make a judgment of dysmorphic vs. nondysmorphic. Using this measure in the Simons Simplex Collection (SSC) is providing the first large-scale test of the ADM, including comparing ADM reliability by users with different levels of training and analyzing reliability of the ADM compared to a comprehensive dysmorphology examination. Comparing the ADM to a comprehensive dysmorphology examination by a geneticist has provided exceptional correlation (99% sensitivity; 100% specificity). In addition to enhancing previous associations, rigorously controlled SSC data allows identification of new associations, including use of the Social Responsiveness Scale (SRS) to study autism family loading in subgroups. Project Status


Funder Simons Foundation
Fiscal Year Funding $47,957.75
Project Number SSC-14
Principal Investigator Miles, Judith
Received ARRA Funding? No
Strategic Plan Question Question 1: When Should I Be Concerned? (Diagnosis)
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 1SA. Develop, with existing tools, at least one efficient diagnostic instrument (e.g., briefer, less time intensive) that is valid in diverse populations for use in large-scale studies by 2011. IACC Recommended Budget: $5,300,000 over 2 years.
Federal or Private? Private
Institution University of Missouri
State/Country Missouri
Web Link 1 Autism dysmorphology measure validity study (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
History/Related Projects Autism dysmorphology measure validity study | $195,570.00 | 2010 | SSC-14
Autism dysmorphology measure validity study | $143,873.25 | 2008 | Project number unavailable
Autism dysmorphology measure validity study | $0.00 | 2011 | SSC-14