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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

An investigation of the overlap of autism and fragile X syndrome

Principal Investigator

Principal Investigator

Martin, Gary

Description

Description

Fragile X syndrome (FXS) is caused by expansion of DNA sequence in the Fragile X Mental Retardation-1 gene (FMR1) and is the leading single-gene disorder associated with a diagnosis of autism. Atypical language prosody, which is the perception of rhythm, stress, and intonation of speech, is a core feature of autism and can compromise communicative competence in daily interactions. Researchers in this study will determine the differences and overlap in prosodic profiles of boys with FXS and autism. The research will compare language prosody of boys with autism spectrum disorder (ASD) only (ASD-O), FXS with ASD (FXS-ASD), FXS only (FXS-O), and typical development (TD) to identify precise autism phenotypes that could be linked with the Fragile X Mental Retardation-1 gene (FMR1). 40 boys with ASD-O, 40 boys with FXS-ASD, 40 boys with FXS-O, and 50 TD boys (25 with similar language age [TD-LA] and 25 with similar chronological age [TD-CA]) will be assessed once over a 2-year period. The boys' language in imitated sentences and conversational speech will be examined for prosody using both objective, acoustic measures and listener judgments of phrasing, rate, and stress. In addition, researchers will assess perceived peculiarity of speech. Relationships between judgments of prosodic peculiarity and specific aspects of prosody, as well as the relationship between social cognition (theory of mind) and prosody, will be examined. As well as furthering our understanding of the association between autism and FMR1, determining the differences and overlap in prosodic profiles of boys with FXS and ASD using both rater judgments and objective measures has important clinical implications and may aid in identifying effective treatment protocols.

Funder

Funder

National Institutes of Health

Fiscal Year Funding

Fiscal Year Funding

71632

Current Award Period

Current Award Period

2010-2012

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

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.

Project Link

Project Link

An investigation of the overlap of autism and fragile X syndrome (External web link)

Institution

Institution

University of North Carolina at Chapel Hill

State/Country

State/Country

North Carolina

Project Number

Project Number

5R03DC010880-02

Federal or Private?

Federal or Private?

Federal

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

N/A

 
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