Health care guidelines for management. Excellent review for me to form surveillance recommendations for the office.
DiGeorge is not rare! 1:4000-6000 JR
Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.
Habel A1,
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.
Eur J Pediatr. 2014 Jun;173(6):757-65. doi: 10.1007/s00431-013-2240-z. Epub 2014 Jan 3.
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.
- PMID:
- 24384789
- [PubMed - indexed for MEDLINE]
- PMCID:
- PMC403264
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