Journal
GENETICS IN MEDICINE
Volume 17, Issue 8, Pages 599-609Publisher
ELSEVIER SCIENCE INC
DOI: 10.1038/gim.2014.175
Keywords
22q11.2 deletion; clinical practice guidelines; DiGeorge syndrome; treatment; velocardiofacial syndrome
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Funding
- Canadian Institutes of Health Research (CIHR) [MOP 97800, MOP 111238]
- Canada Research Chairs program
- Dempster Family Foundation Canada
- CIHR
- Brain Canada Mental Health Training Award
- CIHR Vanier Canada Graduate Scholarship
- McLaughlin Centre MD/PhD studentship
- Dalglish Family Hearts and Minds Clinic Fellowship
- NATIONAL INSTITUTE OF MENTAL HEALTH [U01MH101723] Funding Source: NIH RePORTER
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22q11.2 Deletion syndrome (22q11.2DS) is the most common microdeletion syndrome in humans, estimated to affect up to 1 in 2,000 live births. Major features of this multisystem condition include congenital anomalies, developmental delay, and an array of early- and later-onset medical and psychiatric disorders. Advances in pediatric care ensure a growing population of adults with 22q11.2DS. Informed by an international panel of multidisciplinary experts and a comprehensive review of the existing literature concerning adults, we present the first set of guidelines focused on managing the neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, genetic counseling, and other issues that are the focus of attention in adults with 22q11.2DS. We propose practical strategies for the recognition, evaluation, surveillance, and management of the associated morbidities.
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