Evaluating Anxiety in Individuals with Angelman Syndrome

$181,800

Many families of individuals with Angelman syndrome express concern to their doctors about anxiety in their loved one. However, very little is understood about anxiety in individuals with AS at the clinical level. Many clinicians feel that once physical symptoms of AS are managed, emotional symptoms of AS (such as anxiety) remain that are much more difficult to evaluate, or even treat. With this research project, Dr. Keary seeks to find ways to assess and measure anxiety in individuals with AS, which has never been done before. Having a better understanding of anxiety in AS is an important step towards developing future treatment strategies for anxiety in individuals with AS and improving their quality of life.

To accomplish these goals, Dr. Keary will conduct in-person meetings with individuals with AS and their family members/caregivers to perform evaluations to assess for anxiety. Dr. Keary will assess and measure using:

1. Standardized tools for measuring anxiety that are validated in individuals with developmental disabilities.
2. Standardized tools for measuring anxiety that are un-validated in individuals with developmental disabilities. In order for tools to become commonly used and accepted (validated), they have to be tested in people with that disorder—many haven’t been tested on individuals with AS, which is what has made it difficult to define the issue.

He will then determine how useful these tools are and how much they coincide with problems the individual is experiencing. Furthermore, Dr. Keary will be exploring if specific genetic types of the diagnosis (deletion +, etc.) affect anxiety differently.