Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

被引：48

作者：

Habel, Alex ^{[1
]}

Herriot, Richard ^{[2
]}

Kumararatne, Dinakantha ^{[3
]}

Allgrove, Jeremy ^{[4
]}

Baker, Kate ^{[5
]}

Baxendale, Helen ^{[6
]}

Bu'Lock, Frances ^{[7
]}

Firth, Helen ^{[8
]}

Gennery, Andrew ^{[9
]}

Holland, Anthony ^{[10
]}

Illingworth, Claire ^{[11
]}

Mercer, Nigel ^{[12
]}

Pannebakker, Merel ^{[13
]}

Parry, Andrew ^{[14
]}

Roberts, Anne ^{[15
]}

Tsai-Goodman, Beverly ^{[14
]}

机构：

[1] Great Ormond St NHS Trust, North Thames Reg Cleft Unit, London WC1N 3JH, England

[2] Aberdeen Royal Infirm, Dept Pathol, Aberdeen AB25 2ZD, Scotland

[3] Addenbrookes Hosp, Dept Clin Immunol, Cambridge CB2 2QQ, England

[4] Barts Hlth NHS Trust, Royal London Childrens Hosp, London E1 1BB, England

[5] Addenbrookes Hosp, Dept Med Genet, Cambridge CB2 0QQ, England

[6] Papworth Hosp NHS Fdn Trust, Cambridge CB23 3RE, England

[7] Glenfield Gen Hosp, Congenital & Paediat Cardiol Serv, Leicester LE3 9QP, Leics, England

[8] Cambridge Univ Hosp Fdn Trust, Dept Med Genet, Cambridge CB2 2QQ, England

[9] Royal Victoria Infirm, Great North Childrens Hosp, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England

[10] Univ Cambridge, Sect Dev Psychiat, Cambridge CB2 8AH, England

[11] Addenbrookes Hosp, East England Cleft Network, Cambridge CB2 2QQ, England

[12] Frenchay Hosp, Cleft Unit South West England, Bristol BS16 1LE, Avon, England

[13] Univ Cambridge, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Primary Care Unit, Cambridge CB1 8RN, England

[14] Bristol Royal Hosp Children, Cardiac Ctr, Bristol BS2 8BJ, Avon, England

[15] North Bristol NHS Trust, South West Cleft Unit, Bristol BS16 1JE, Avon, England

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 2014年 / 173卷 / 06期

关键词：

22q11 deletion syndrome; Guidelines; Di George; Velocardiofacial; Congenital abnormalities; Resource management; CLINICAL-FEATURES; DIGEORGE-SYNDROME; CHILDREN; ADULTS; ADOLESCENTS; PREVALENCE; DISORDERS; PHENOTYPE; PSYCHOPATHOLOGY; SCHIZOPHRENIA;

D O I：

10.1007/s00431-013-2240-z

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

The commonest autosomal deletion, 22q11.2 deletion syndrome (22q11DS) is a multisystem disorder varying greatly in severity and age of identification between affected individuals. Holistic care is best served by a multidisciplinary team, with an anticipatory approach. Priorities tend to change with age, from feeding difficulties, infections and surgery of congenital abnormalities particularly of the heart and velopharynx in infancy and early childhood to longer-term communication, learning, behavioural and mental health difficulties best served by evaluation at intervals to consider and initiate management. Regular monitoring of growth, endocrine status, haematological and immune function to enable early intervention helps in maintaining health. Conclusion: Guidelines to best practice management of 22q11DS based on a literature review and consensus have been developed by a national group of professionals with consideration of the limitations of available medical and educational resources.

引用

页码：757 / 765

页数：9

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