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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

Assessing the accuracy of rapid phenotyping of nonverbal autistic children

Principal Investigator

Principal Investigator

Law, Paul

Description

Description

Autism spectrum disorders (ASD) are extremely heterogeneous, presenting with a wide range of phenotypic characteristics. High twin concordance and increased sibling recurrence suggest that genetic risk factors play a significant role in development of the disorder. Efforts to identify ASD causative genes have yielded a handful of associated risk variants, each contributing to only a small fraction of ASD cases. It is evident that many more such variants exist, but have yet to be discovered. Collectively, these individual gene variants may account for a large portion of ASD cases. Gene-hunting efforts to date have relied heavily on coordinated efforts of networks such as the Autism Genome Project (AGP), and the availability of large-scale sample collections, such as the Autism Genetics Resource Exchange (AGRE) and the more recently available Simons Simplex Collection (SSC), which together provide a current sample set of approximately 4,000 ASD families. Albeit a tremendous asset, the existing sample size is insufficient to identify the vast majority of ASD-related risk variants. Growth of existing genetic collections is limited by traditional research methods requiring individuals with ASD to undergo time-consuming, costly, clinic-based diagnostic assessment and exhaustive phenotyping as part of the research protocol. In this study, the investigators aim to develop and test a rapid phenotyping protocol (RPP) that will be reliable and feasible for ascertainment of non-verbal ASD (NV-ASD) for large-scale genetic research. Existing literature which shows good correlation between parent-provided measures and clinical assessments, and preliminary analysis of Interactive Autism Network (IAN) data provide supportive evidence that an RPP can ultimately be successful for NV-ASD. By utilizing IAN, the nation's largest online autism research effort, an internet-mediated recruitment and ascertainment strategy will allow researchers to quickly recruit a large number of subjects for genetics analysis at a fraction of the usual costs. This project seeks to further demonstrate that a rapid phenotyping approach executed via the internet can be developed to diagnose nonverbal children with ASD with demonstrated agreement with "gold standard" diagnostic assessments.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

124998

Current Award Period

Current Award Period

2011-2012

Strategic Plan Question

Strategic Plan Question

Question 1: When Should I Be Concerned?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 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

Assessing the accuracy of rapid phenotyping of nonverbal autistic children (External web link)

Institution

Institution

Kennedy Krieger Institute

State/Country

State/Country

Maryland

Project Number

Project Number

7566

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Assessing the accuracy of rapid phenotyping of nonverbal autistic children | 0 | 2012 | 7566
Assessing the accuracy of rapid phenotyping of nonverbal autistic children | 124998 | 2013 | 7566

 
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