Project Detail
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Office of Autism Research Coordination (OARC) logo

Social cognition in 22q11.2 deletion syndrom (DS) adolescents with ASD vs. without ASD: Imaging and genetic correlates  

It has been estimated that about 10% of patients with autism also carry an identifiable genetic abnormality. One genetic syndrome that confers an increased ASD risk is 22q11.2 deletion syndrome (22q11.2 DS; velocardiofacal syndrome, VCFS), with up to about 40% of the patients developing ASD. The social cognition deficits in 22q11.2 DS patients have not been fully characterized yet, and the additional genetic risk factors and white matter pathology associated with ASD in 22q11.2 DS are unknown. Our study will evaluate Theory of Mind (ToM) (the ability of a person to infer what another person thinks in certain situations) in 22q11.2 DS patients with ASD vs. without ASD and their unaffected siblings. Second, we will use a non-invasive neuroimaging technique (diffusion tensor imaging, DTI) to evaluate the integrity of the white matter tracts of the brain. We predict that 22q11.2 DS patients with ASD will have ToM impairments and white matter abnormalities, compared to the other two groups. Third, we will study the additional genetic risk factors associated with the diagnosis of ASD in 22q11.2 DS, specifically in the genes COMT (which affects neurotransmitter levels in the brain), and PRODH (which degrades the amino acid proline). A better understanding of the social deficits of 22q11.2 DS adolescents with ASD will be essential for the future design of targeted behavioral interventions. Increased insight into the genetic variants and white matter pathology associated with ASD could aid the early identification of high-risk patients and allow for targeted preventive treatments. Project Status
NEW

2010

Funder Autism Speaks
Fiscal Year Funding $28,000.00
Current Award Period 2010-2012
Project Number 7076
Principal Investigator Radoeva, Petya
Received ARRA Funding? No
Strategic Plan Question Question 2: How Can I Understand What Is Happening? (Biology)
Subcategory Subgroups/Biosignatures
Strategic Plan Objective Green dot: Objective has greater than or equal to the recommended funding. 2SG. Support five studies that associate specific genotypes with functional or structural phenotypes, including behavioral and medical phenotypes (e.g., nonverbal individuals with ASD and those with cognitive impairments) by 2015. IACC Recommended Budget: $22,600,000 over 5 years.
Federal or Private? Private
Institution State University of New York Upstate Medical University
State/Country New York
Web Link 1 Social cognition in 22q11.2 deletion syndrom (DS) adolescents with ASD vs. without ASD: Imaging and genetic correlates (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
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