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Genet Med. 2015 Aug;17(8):599-609. doi: 10.1038/gim.2014.175. Epub 2015 Jan 8.

Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Author information

1
1] 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.
2
1] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [2] Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
3
1] The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada [2] Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada.
4
1] 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 [5] Department of Nuclear Medicine, Academic Medical Center, Amsterdam, The Netherlands.
5
1] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [2] Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.
6
Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
7
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
8
The Fred A. Litwin and Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Ontario, Canada.
9
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, Madrid, Spain.
10
1] The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada [2] Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [3] Department of Pharmacology, University of Toronto, Toronto, Ontario, Canada.
11
1] Division of Neurology, Toronto Western Hospital, Krembil Neurosciences Centre, University of Toronto, Toronto, Ontario, Canada [2] The Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto, Ontario, Canada.
12
Center for Genetics and Genomics, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
13
1] The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada [2] Division of Obstetric Medicine, Medical Disorders of Pregnancy Program, Mount Sinai Hospital, Toronto, Ontario, Canada [3] Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada.
14
1] Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Flanders, Belgium [2] Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Flanders, Belgium.
15
Department of Psychiatry and Psychology, School for Mental Health and Neuroscience, Maastricht University Medical Centre, Maastricht, The Netherlands.
16
1] Division of Human Genetics, 22q and You Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA [2] Clinical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA [3] Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
17
1] 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 [5] Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada [6] Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [7] Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada.

Abstract

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.Genet Med 17 8, 599-609.

PMID:
25569435
PMCID:
PMC4526275
DOI:
10.1038/gim.2014.175
[Indexed for MEDLINE]
Free PMC Article

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