Our Current Research

Identifying and characterizing 22q11.2DS in adults with and without congenital heart defects

Many individuals with 22q11.2 deletion syndrome (22q11.2DS) are born with heart defects, with tetralogy of Fallot (ToF) being one of the common conditions. Studies have suggested that individuals with both 22q11.2DS and heart defects may always have additional features that affect a body part other than the heart. The goal of this study is to identify clinical features that will help doctors figure out which adults have 22q11.2DS. Our research team is comparing adults with TOF who have or don’t have additional features to look for a specific mix of features can predict the presence of 22q11.2DS.

Our research team will also check how common mental health conditions are in adults with 22q11.2DS who have (and don’t have) TOF and the additional features. We will assess whether the length of the 22q11.2 deletion and the presence of any other genetic factors are related to the additional features.

Investigators – Dr. Anne S. Bassett, Dr. Candice Silversides, Dr. Gregory Costain, Dr. Erwin Oechslin, Dr. Rachel Wald, Dr. Susan George, Dr. Tony Lang, Dr. Danielle Andrade, Dr. Eva Chow, Dr. Steve Scherer, Dr. Christian Marshall, Dr. Miriam Reuter, Dr. Rebekah Jobling, Kelsey Kalbfleisch, Dr. Ryan Yuen

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Clinical Features in adults with 22q11.2DS – An update

In 2005, we reported on the clinical features of 78 adults with 22q11.2DS. Some of the more common features included intellectual disability, psychiatric problems, seizures, hormone-related problems, and cardiovascular abnormalities. Over ten years have passed, and we have now served more than 400 individuals with 22q11.2DS. By studying medical information of these individuals, we will be able to have a more precise estimate of the proportion of patients with specific features. We are also trying to find out if there are certain psychiatric and physical features that are common to aging adults with 22q11.2DS.

Investigators/study doctors:
Principal Investigator: Dr. Anne Bassett
Study Coordinators: Dr. Christina Blagojevic

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