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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

Association of cholinergic system dysfunction with autistic behavior in fragile X syndrome: Pharmacologic and imaging probes

Principal Investigator

Principal Investigator

Reiss, Allan

Description

Description

The term “autism” is being increasingly recognized as a diagnostic category that covers a large number of, as yet, unidentified brain disorders of childhood onset. In contrast, Fragile X syndrome (FraX) is a common, readily identified genetic condition associated with greatly increased risk for autistic behavior. Thus, FraX offers a unique opportunity to study how genetic and environmental factors lead to autistic behavior, and how disease-specific treatments can reduce such behaviors. Preliminary studies from the research team and others indicate that dysfunction of a specific neurochemical system of the brain (the “cholinergic” system) is relevant to FraX and that intervention to augment this system may have beneficial effects for both behavior and learning. Two objectives are proposed for this research. First, to conduct a controlled clinical trial to assess whether a medicine that increases cholinergic function (donepezil) can reduce autistic behavior and improve cognition in persons with FraX; and second, to use special magnetic resonance imaging (MRI) techniques to assess change in brain function and neurochemistry associated with donepezil treatment. Autistic behaviors occurring in FraX are similar to those observed in idiopathic (non-FraX) autism. Like idiopathic autism, behavioral and learning problems in FraX contribute to impairments in social development, disturbance in the parent-child relationship and educational failure. Accordingly, the study of FraX as a “comprehensible” model for autism has been increasingly proposed. As hypotheses about cholinergic dysfunction have been offered for idiopathic autism as well as FraX, the results of the study hold promise for informing future research in autistic populations who share genetic or neurobiological links to FraX.

Funder

Funder

Autism Speaks

Fiscal Year Funding

Fiscal Year Funding

91292

Current Award Period

Current Award Period

2009-2012

Strategic Plan Question

Strategic Plan Question

Question 4: Which Treatments And Interventions Will Help?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 4LA. Complete at least three randomized controlled trials on medications targeting core symptoms in people with ASD of all ages by 2014. IACC Recommended Budget: $22,200,000 over 5 years.

Project Link

Project Link

Association of cholinergic system dysfunction with autistic behavior in fragile X syndrome: Pharmacologic and imaging probes (External web link)

Institution

Institution

Stanford University

State/Country

State/Country

California

Project Number

Project Number

5907

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Association of cholinergic system dysfunction with autistic behavior in fragile X syndrome: Pharmacologic and imaging probes | 94832 | 2010 | 5907
Association of cholinergic system dysfunction with autistic behavior in fragile X syndrome: Pharmacologic and imaging probes | 92469 | 2012 | 5907
Association of cholinergic system dysfunction with autistic behavior in fragile X syndrome: Pharmacologic and imaging probes | 0 | 2013 | 5907

 
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