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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.
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
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
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