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

Lookup NU author(s): Professor Andrew GenneryORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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.

Publication metadata

Author(s): Habel A, Herriot R, Kumararatne D, Allgrove J, Baker K, Baxendale H, Bu'Lock F, Firth H, Gennery A, Holland A, Illingworth C, Mercer N, Pannebakker M, Parry A, Roberts A, Tsai-Goodman B

Publication type: Article

Publication status: Published

Journal: European Journal of Pediatrics

Year: 2014

Volume: 173

Issue: 6

Pages: 757-765

Print publication date: 01/06/2014

Online publication date: 03/01/2014

Acceptance date: 09/12/2013

Date deposited: 28/08/2014

ISSN (print): 0340-6199

ISSN (electronic): 1432-1076

Publisher: Springer


DOI: 10.1007/s00431-013-2240-z


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