Published in:
Open Access
01-06-2014 | Original Article
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times
Authors:
Alex Habel, Richard Herriot, Dinakantha Kumararatne, Jeremy Allgrove, Kate Baker, Helen Baxendale, Frances Bu’Lock, Helen Firth, Andrew Gennery, Anthony Holland, Claire Illingworth, Nigel Mercer, Merel Pannebakker, Andrew Parry, Anne Roberts, Beverly Tsai-Goodman
Published in:
European Journal of Pediatrics
|
Issue 6/2014
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Abstract
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.