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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

Characterizing autism-related intellectual impairment and its genetic mechanisms

Principal Investigator

Principal Investigator

Schultz, Robert

Description

Description

Although intellectual impairment is not one of the diagnostic criteria for autism spectrum disorders, half or more of all people with autism have an intellectual disability. Intellectual disability can present an equal or greater challenge to individuals with autism than do autism-specific deficits. To date, the intelligence quotient (IQ) is one of the best predictors of response to treatment among youth with autism, and it is also one of the best predictors of long-term outcomes. Robert Schultz and his colleagues at The Children’s Hospital of Philadelphia are seeking to understand the biological mechanisms that cause intellectual disability and the high rates of it seen in autism spectrum disorders. It is not yet known whether the genetic mechanisms that affect intellectual functioning put one at increased risk for autism, whether autism affects intellectual functioning, or whether there are pleiotropic effects that affect both simultaneously. The Simons Simplex Collection (SSC) is a repository of genetic and phenotypic data from 2,700 families that have one child with autism and unaffected parents and siblings. A new collaboration with the Interactive Autism Network (IAN) is bringing together many of these families in an online forum called SSC@IAN for new studies. Contrary to the researchers’ hypothesis, initial analyses of data from the SSC show that the degree of intellectual disability is a poor predictor of overall genetic risk for autism. Unfortunately, IQ scores are not available for SSC parents or unaffected siblings, making it difficult to fully interpret IQ data from individuals with autism. Using a new web-based adaptive IQ test called the Adaptive Matrices Test, Schultz’s group aims to characterize IQ for all family members enrolled in SSC@IAN. This would allow the researchers to take a fresh look at SSC genetic data, modeling IQ as a deviation from predicted IQ based on sibling and parental data. By including family IQ data in their statistical analyses, Schultz’s team expects to be better able to discern the origins of intellectual impairments in autism.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2012-2016

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. 1SB. Validate and improve the sensitivity and specificity of new or existing screening and diagnostic tools, including comparative studies of general developmental screening versus autism-specific screening tools, in both high-risk and population-based samples, including those from resource-poor international settings and those that are diverse in terms of age, socio-economic status, race, ethnicity, gender, characteristics of ASD, and general level of functioning by 2012. IACC Recommended Budget: $5,400,000 over 3 years.

Project Link

Project Link

Characterizing autism-related intellectual impairment and its genetic mechanisms (External web link)

Institution

Institution

Children's Hospital of Philadelphia

State/Country

State/Country

Pennsylvania

Project Number

Project Number

239534

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Characterizing autism-related intellectual impairment and its genetic mechanisms | 59443 | 2012 | 239534
Characterizing autism-related intellectual impairment and its genetic mechanisms | 120472 | 2013 | 239534
Characterizing autism-related intellectual impairment and its genetic mechanisms | 61029 | 2014 | 239534

 
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