Medical geneticists’ discussion of psychiatric risks during diagnosis of 22q11.2 deletion syndrome

22q11.2 deletion syndrome (22qDS) affects 1/4,000 newborns. People with this condition can have various medical problems. Approximately 30% develop psychiatric illness (e.g bipolar disorder or schizophrenia). A recent study explored parents’ experience of receiving a diagnosis of 22qDS for their child. Families identified an unmet need for information from their healthcare providers about the psychiatric features of 22qDS, and indicated that risk for psychiatric illness was a major source of anxiety, compared to the other features of the syndrome. No studies have ever asked medical geneticists about how they approach telling families about the features of 22qDS. The purpose of our study is to find out if and when medical geneticists discuss with families different features of 22qDS, especially psychiatric risks. This project falls directly under several aspects of the mandate of BCMHAS. It explores the practices of physicians related to psychiatric disorders and helps the development of interventions.

Faculty Supervisor:

Jan Friedman

Student:

Partner:

BC Mental Health and Addiction Services

Discipline:

Life Sciences

Sector:

Health and Related Sciences & Technology

University:

The University of British Columbia

Program: