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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

Mapping the Neurobehavioral Phenotype in Phelan McDermid Syndrome

Principal Investigator

Principal Investigator

Li, Erin

Description

Description

Autism spectrum disorders (ASD) can be conceived of as having multiple distinct genetic risk genes, one of which is SHANK3 on the end of chromosome 22. The loss of one form of SHANK3 causes a form of ASD known as Phelan McDermid Syndrome (PMS), which comprises 0.5-1% of all ASD cases. PMS is characterized by ASD, as well as global developmental delay, motor skills deficits, and delayed or absent speech. To date, no studies have comprehensively described the behavioral features of PMS and few have characterized ASD symptom domains in PMS according to best-practice guidelines. The aim for this project is to use a comprehensive assessment battery to characterize the behavioral, cognitive, language, sensory, and motor deficits in PMS. This work will also establish a patient population that can be followed over time using repeated longitudinal assessments to clarify the natural history of the disorder. We expect that the knowledge gained from completing this study will aid in understanding the range of deficits in PMS and establishing a neurobiological footprint of the disorder to identify important targets for intervention. If successful, this project will help to establish the foundation for future clinical trials in PMS and in other ASD-related disorders that share its signaling pathways.

Funder

Funder

Autism Science Foundation

Fiscal Year Funding

Fiscal Year Funding

0

Current Award Period

Current Award Period

2014-2015

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. 2SD. Launch three studies that target improved understanding of the underlying biological pathways of genetic conditions related to autism (e.g. Fragile X, Rett syndrome, tuberous sclerosis complex) and how these conditions inform risk assessment and individualized intervention by 2012. IACC Recommended Budget: $9,000,000 over 5 years.

Project Link

Project Link

Mapping the Neurobehavioral Phenotype in Phelan McDermid Syndrome (External web link)

Institution

Institution

ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI

State/Country

State/Country

New York

Project Number

Project Number

Federal or Private?

Federal or Private?

Private

Received ARRA Funding?

Received ARRA Funding?

No

History/Related Projects

History/Related Projects

Mapping the Neurobehavioral Phenotype in Phelan McDermid Syndrome | 35000 | 2014 |

 
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