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Practical guidelines for managing adults with 22q11.2 deletion syndrome
Wai Lun Alan Fung1, Nancy J Butcher2, Gregory Costain2
11] The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada [2] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [3] Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada [4] Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
22q11.2 Deletion syndrome (22q11.2DS) affects 1 in 2,000 births. This summary provides the first expert guidelines for managing adult 22q11.2DS, covering medical, psychiatric, and psychosocial aspects.
Area of Science:
- Genetics
- Medical Genetics
- Syndromology
Background:
- 22q11.2 Deletion syndrome (22q11.2DS) is a common microdeletion affecting 1 in 2,000 live births.
- It is a multisystem condition with congenital anomalies, developmental delay, and various medical and psychiatric disorders.
- Improved pediatric care leads to a growing adult population with 22q11.2DS.
Purpose of the Study:
- To present the first comprehensive guidelines for managing adults with 22q11.2DS.
- To address neuropsychiatric, endocrine, cardiovascular, reproductive, psychosocial, and genetic counseling issues.
- To provide practical strategies for recognition, evaluation, surveillance, and management of associated morbidities.
Main Methods:
- Informed by an international panel of multidisciplinary experts.
- Based on a comprehensive review of existing literature concerning adults with 22q11.2DS.
- Development of practical management strategies.
Main Results:
- The study presents the first set of guidelines specifically for adults with 22q11.2DS.
- Guidelines cover a wide range of medical and psychosocial issues.
- Practical strategies for recognition, evaluation, surveillance, and management are proposed.
Conclusions:
- Management guidelines are crucial for the growing adult population with 22q11.2DS.
- Multidisciplinary expert consensus informs these essential management strategies.
- Effective surveillance and management of morbidities are key to improving outcomes for adults with 22q11.2DS.
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