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

Wai Lun Alan Fung; Nancy J. Butcher; Gregory Costain; Danielle M. Andrade; Erik Boot; Eva W. C. Chow; Brian Chung; Cheryl Cytrynbaum; Hanna Faghfoury; Leona Fishman; Sixto Garcia-Minar; Susan George; Anthony E. Lang; Gabriela Repetto; Andrea Shugar; Candice Silversides; Ann Swillen; Therese van Amelsvoort; Donna M. McDonald-McGinn; Anne S. Bassett

doi:10.1038/gim.2014.175

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

Wai Lun Alan Fung, Nancy J. Butcher, Gregory Costain, Danielle M. Andrade, Erik Boot, Eva W. C. Chow, Brian Chung, Cheryl Cytrynbaum, Hanna Faghfoury, Leona Fishman, Sixto Garcia-Minar, Susan George, Anthony E. Lang, Gabriela Repetto, Andrea Shugar, Candice Silversides, Ann Swillen, Therese van Amelsvoort, Donna M. McDonald-McGinn, Anne S. Bassett^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	599-609
Journal	Genetics in Medicine
Volume	17
Issue number	8
DOIs	https://doi.org/10.1038/gim.2014.175
Publication status	Published - Aug 2015

Keywords

22q11.2 deletion
clinical practice guidelines
DiGeorge syndrome
treatment
velocardiofacial syndrome

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Fung, W. L. A., Butcher, N. J., Costain, G., Andrade, D. M., Boot, E., Chow, E. W. C., Chung, B., Cytrynbaum, C., Faghfoury, H., Fishman, L., Garcia-Minar, S., George, S., Lang, A. E., Repetto, G., Shugar, A., Silversides, C., Swillen, A., van Amelsvoort, T., McDonald-McGinn, D. M., & Bassett, A. S. (2015). Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genetics in Medicine, 17(8), 599-609. https://doi.org/10.1038/gim.2014.175

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title = "Practical guidelines for managing adults with 22q11.2 deletion syndrome",

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.",

keywords = "22q11.2 deletion, clinical practice guidelines, DiGeorge syndrome, treatment, velocardiofacial syndrome",

author = "Fung, {Wai Lun Alan} and Butcher, {Nancy J.} and Gregory Costain and Andrade, {Danielle M.} and Erik Boot and Chow, {Eva W. C.} and Brian Chung and Cheryl Cytrynbaum and Hanna Faghfoury and Leona Fishman and Sixto Garcia-Minar and Susan George and Lang, {Anthony E.} and Gabriela Repetto and Andrea Shugar and Candice Silversides and Ann Swillen and {van Amelsvoort}, Therese and McDonald-McGinn, {Donna M.} and Bassett, {Anne S.}",

year = "2015",

month = aug,

doi = "10.1038/gim.2014.175",

language = "English",

volume = "17",

pages = "599--609",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Nature Publishing Group",

number = "8",

}

Fung, WLA, Butcher, NJ, Costain, G, Andrade, DM, Boot, E, Chow, EWC, Chung, B, Cytrynbaum, C, Faghfoury, H, Fishman, L, Garcia-Minar, S, George, S, Lang, AE, Repetto, G, Shugar, A, Silversides, C, Swillen, A, van Amelsvoort, T, McDonald-McGinn, DM & Bassett, AS 2015, 'Practical guidelines for managing adults with 22q11.2 deletion syndrome', Genetics in Medicine, vol. 17, no. 8, pp. 599-609. https://doi.org/10.1038/gim.2014.175

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T1 - Practical guidelines for managing adults with 22q11.2 deletion syndrome

AU - Fung, Wai Lun Alan

AU - Butcher, Nancy J.

AU - Costain, Gregory

AU - Andrade, Danielle M.

AU - Boot, Erik

AU - Chow, Eva W. C.

AU - Chung, Brian

AU - Cytrynbaum, Cheryl

AU - Faghfoury, Hanna

AU - Fishman, Leona

AU - Garcia-Minar, Sixto

AU - George, Susan

AU - Lang, Anthony E.

AU - Repetto, Gabriela

AU - Shugar, Andrea

AU - Silversides, Candice

AU - Swillen, Ann

AU - van Amelsvoort, Therese

AU - McDonald-McGinn, Donna M.

AU - Bassett, Anne S.

PY - 2015/8

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AB - 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.

KW - 22q11.2 deletion

KW - clinical practice guidelines

KW - DiGeorge syndrome

KW - treatment

KW - velocardiofacial syndrome

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DO - 10.1038/gim.2014.175

M3 - Article

C2 - 25569435

SN - 1098-3600

VL - 17

SP - 599

EP - 609

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 8

ER -

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

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Keywords

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