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

被引：202

作者：

Fung, Wai Lun Alan ^{[1
,2
,3
,4
,5
]}

Butcher, Nancy J. ^{[2
,6
]}

Costain, Gregory ^{[2
,6
]}

Andrade, Danielle M. ^{[1
,7
]}

Boot, Erik ^{[1
,2
,3
,4
,5
,8
]}

Chow, Eva W. C. ^{[2
,4
]}

Chung, Brian ^{[9
]}

Cytrynbaum, Cheryl ^{[10
]}

Faghfoury, Hanna ^{[11
,12
]}

Fishman, Leona ^{[10
]}

Garcia-Minar, Sixto ^{[13
]}

George, Susan ^{[1
,14
,15
]}

Lang, Anthony E. ^{[7
,16
,17
]}

Repetto, Gabriela ^{[18
]}

Shugar, Andrea ^{[10
]}

Silversides, Candice ^{[1
,19
,20
]}

Swillen, Ann ^{[21
,22
]}

van Amelsvoort, Therese ^{[23
]}

McDonald-McGinn, Donna M. ^{[24
,25
,26
]}

Bassett, Anne S. ^{[1
,2
,3
,4
,5
,6
,14
,20
]}

机构：

[1] Univ Hlth Network, Toronto Gen Hosp, Dalglish Family Hearts & Minds Clin Delet Syndrom, Toronto, ON, Canada

[2] Ctr Addict & Mental Hlth, Clin Genet Res Program, Toronto, ON, Canada

[3] Univ Hlth Network, Dept Psychiat, Toronto, ON, Canada

[4] Univ Hlth Network, Toronto Gen Res Inst, Toronto, ON, Canada

[5] Univ Toronto, Dept Psychiat, Toronto, ON, Canada

[6] Univ Toronto, Inst Med Sci, Toronto, ON, Canada

[7] Univ Toronto, Toronto Western Hosp, Krembil Neurosci Ctr, Div Neurol, Toronto, ON M5T 2S8, Canada

[8] Univ Amsterdam, Acad Med Ctr, Dept Nucl Med, NL-1105 AZ Amsterdam, Netherlands

[9] Univ Hong Kong, LKS Fac Med, Dept Paediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China

[10] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[11] Univ Hlth Network, Fred A Litwin & Family Ctr Genet Med, Toronto, ON, Canada

[12] Univ Hlth Network, Mt Sinai Hosp, Toronto, ON, Canada

[13] Univ Autonoma Madrid, IdiPAZ, Hosp Univ La Paz, Inst Med & Mol Genet, Madrid, Spain

[14] Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Res Inst, Toronto, ON, Canada

[15] Univ Toronto, Dept Pharmacol, Toronto, ON, Canada

[16] Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON M5T 2S8, Canada

[17] Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Toronto, ON M5T 2S8, Canada

[18] Clin Alemana Univ Desarrollo, Fac Med, Ctr Genet & Genom, Santiago, Chile

[19] Mt Sinai Hosp, Med Disorders Pregnancy Program, Div Obstet Med, Toronto, ON M5G 1X5, Canada

[20] Univ Hlth Network, Dept Med, Div Cardiol, Toronto, ON, Canada

[21] Univ Hosp Gasthuisberg, Ctr Human Genet, Leuven, Flanders, Belgium

[22] Katholieke Univ Leuven, Univ Leuven, Dept Human Genet, Leuven, Flanders, Belgium

[23] Maastricht Univ, Med Ctr, Sch Mental Hlth & Neurosci, Dept Psychiat & Psychol, Maastricht, Netherlands

[24] Childrens Hosp Philadelphia, Div Human Genet, 22q & You Ctr, Philadelphia, PA 19104 USA

[25] Childrens Hosp Philadelphia, Clin Genet Ctr, Philadelphia, PA 19104 USA

[26] Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA

来源：

GENETICS IN MEDICINE | 2015年 / 17卷 / 08期

基金：

加拿大健康研究院;

关键词：

22q11.2; deletion; clinical practice guidelines; DiGeorge syndrome; treatment; velocardiofacial syndrome; COPY NUMBER VARIATIONS; CLINICAL-FEATURES; PRESENTING SYMPTOMS; SCHIZOPHRENIA; RISK; SPECTRUM; MICRODELETION; HYPOCALCEMIA; PREVALENCE; DIAGNOSIS;

D O I：

10.1038/gim.2014.175

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：599 / 609

页数：11

共 78 条

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