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

A family-genetic study of language in autism  

Strong evidence supports a genetic etiology in autism, and twin and family studies have also shown that genetic liability appears to be expressed among unaffected relatives of people with autism through features that are milder, but qualitatively similar, to the defining characteristics of autism. This constellation of subclinical language and personality features is commonly referred to as the 'broad autism phenotype' or 'BAP'. Importantly, whereas by definition autism involves serious impairment across all three symptom domains, evidence suggests that such features may decouple and segregate independently in unaffected (with autism) relatives with the BAP. Therefore, studies of relatives of individuals with autism can help to simplify the complex autism phenotype and identify component traits which are more amenable to genetic dissection than the full clinical syndrome. This study will focus on defining genetically meaningful language phenotypes among individuals with autism and their relatives that may be applied in genetic studies. Using a family study design, a detailed psycholinguistic assessment battery for use in families of individuals with autism and controls will be conducted. This battery of objective, experimentally derived psycholinguistic measures of language processing may produce findings that throw into sharper relief current understanding of key mechanisms underlying the language impairments associated with autism and the BAP. Results will also provide quantitative measures that may be used in genetic studies, and which could be targeted in clinical intervention efforts. A biobank will be established that will include the phenotypes and DNA samples from all participating families that can be used for future genetic studies, and more immediately, to follow up on promising findings from large scale genomewide studies of autism that are underway. Project Status


Funder National Institutes of Health
Fiscal Year Funding $208,064.00
Current Award Period 2010-2015
Project Number 1R01DC010191-01A1
Principal Investigator Losh, Molly
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? Federal
Institution University of North Carolina at Chapel Hill
State/Country North Carolina
Web Link 1 A family-genetic study of language in autism (External web link)
Web Link 2 No URL available.
Web Link 3 No URL available.
New! History/Related Projects A family-genetic study of language in autism | $321,304.00 | 2010 | 7R01DC010191-02