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Project

Pitt-Hopkins Study "Clinical Manifestations of Individuals with Pitt-Hopkins Syndrome - O'Kelley

Center:

AL-Civitan International Research Center, UCEDD/LEND

Fiscal Year:

2016

Contact Information:

Sarah O'Kelley
[email protected]
205-975-5781

Project Description:

Pitt-Hopkins Syndrome (PTHS) is a rare disorder that results from hapoinsufficiency of the transcription factor, TCF4. PTHS is characterized by intellectual disability, some features of autism and hyperventilation. The clinical nature of PTHS is only beginning to be characterized. The current study is being conducted to explore the clinical manifestations of individuals with PTHS. Funds: David Sweatt's grant Understanding the Basic Neurobiology of Pitt-Hopkins Syndrome funded by the Pitt Hopkins Research Foundation.

Keyword(s):

Core Function(s):

Performing Research or Evaluation

Area of Emphasis

Health-Related Activities

Target Audience:

Children/Adolescents with Disabilities/SHCN

Unserved or Under-served Populations:

Specific Groups

Primary Target Audience Geographic Descriptor:

National

Funding Source: