22q11.2DS

Brain-Behavior and Genetic Studies of the 22q11DS

This study, which is a combined effort of the Hospital of the University of Pennsylvania and The Children’s Hospital of Philadelphia (CHOP), aims to understand the brain and behavior in individuals with the chromosome 22q11.2 deletion syndrome, as problems such as schizophrenia occur in some people with this diagnosis. In addition, by looking at individuals with the 22q11.2 deletion syndrome, we may begin to better understand risk factors, such as changes in genes on chromosomes other than 22, for developing behavioral differences in people with the 22q11.2 deletion or in the general population. This is a 5-year project which will enroll 1100 individuals, ages 8 years and older.

The study activities include a clinical interview, which takes about 2-3 hours; a computerized interview that includes memory and puzzle-like problems to solve which takes about 1.5 hours; and having blood drawn which takes about 10 minutes. Some individuals over the age of 12 years may be asked to consider having a brain MRI which lasts about 1 hour. Subjects who complete all study activities will receive $125 for their time and effort. For individuals who qualify, travel costs may also be reimbursable.

Principal Investigator: Raquel E. Gur, MD, PhD. & Beverly S. Emanuel, MD

Upcoming Events

We will be holding a free monthly support and educational group for family members and those with the 22q11.2DS diagnosis. Please contact us for additional information on how you and your family can participate.

• 22q Study Brochure
• Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities Molecular Psychiatry (2014), 1–7
• Contribution of Congenital Heart Disease to Neuropsychiatric Outcome in School-Age Children with 22q11.2 Deletion Syndrome Am J Med Genet Part B 9999:1–11
• Computerized Neurocognitive Profile in Young People With 22q11.2 Deletion Syndrome Compared to Youths With Schizophrenia and At-Risk for Psychosis Am J Med Genet Part B 159B:87–93
• Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated Psychological Medicine (2014), 44, 1267–1277