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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

Investigating the etiology of childhood disintegrative disorder

Principal Investigator

Principal Investigator

Pelphrey, Kevin

Description

Description

Childhood disintegrative disorder (CDD), the rarest autism spectrum disorder, is defined by a severe, irreversible regression to autism and intellectual disability in children who were developing normally for the first three or more years of their lives. Very little is known about CDD, in part because of its rarity, but given its position at the convergence of autism, intellectual disability and regression, research on CDD may shed light on these important areas of inquiry. Kevin Pelphrey and his team at Yale University are conducting a multifaceted research effort to uncover the etiology of CDD. This effort includes brain imaging studies designed to test whether the social brain of people with CDD is developmentally distinguishable from those with non-regressive forms of autism or other forms of regressive autism. To explore this question further, they also plan to use diffusion tensor imaging to look at the structural connectivity between social brain regions. Finally, they aim to use whole-genome sequencing on all CDD subjects and their parents to identify genetic mutations that may contribute to the disease. Pelphrey's team hopes to link these genetic findings back to the behavioral and brain imaging data. This research represents an intense effort on the levels of behavior, brain and biology to generate a full picture of a devastating form of autism.

Funder

Funder

Simons Foundation

Fiscal Year Funding

Fiscal Year Funding

74983

Current Award Period

Current Award Period

2011-2013

Strategic Plan Question

Strategic Plan Question

Question 2: How Can I Understand What Is Happening?

Strategic Plan Objective

Strategic Plan Objective

Yellow dot: Objective has some degree of funding, but less than the recommended amount. 2SF. Launch two studies that focus on prospective characterization of children with reported regression to investigate potential risk factors by 2012. IACC Recommended Budget: $4,500,000 over 5 years.

Project Link

Project Link

Investigating the etiology of childhood disintegrative disorder (External web link)

Institution

Institution

Yale University

State/Country

State/Country

Connecticut

Project Number

Project Number

206929

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Investigating the etiology of childhood disintegrative disorder | 149953 | 2012 | 206929
Investigating the etiology of childhood disintegrative disorder | 74970 | 2013 | 206929

 
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