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Interagency Autism Coordinating Committee (IACC)
Autism Research Database
Office of Autism Research Coordination (OARC)
 
Project Element Element Description

Project Title

Project Title

Autism dysmorphology measure validity study

Principal Investigator

Principal Investigator

Miles, Judith

Description

Description

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.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

47958

Current Award Period

Current Award Period

na

Strategic Plan Question

Strategic Plan Question

Question 1: When Should I Be Concerned?

Strategic Plan Objective

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.

Project Link

Project Link

Autism dysmorphology measure validity study (External web link)

Institution

Institution

University of Missouri

State/Country

State/Country

Missouri

Project Number

Project Number

SSC-14

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Autism dysmorphology measure validity study | 195570 | 2010 | SSC-14
Autism dysmorphology measure validity study | 143873 | 2008 | Project number unavailable
Autism dysmorphology measure validity study | 0 | 2011 | SSC-14

 
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