title: Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: North Thames Regional Cleft Unit, Great Ormond Street NHS Trust, Great Ormond Street, London, WC1N 3JH, UK, alex.habel@btinternet.com.
authors.forename: Alex
authors.initials: A
authors.lastname: Habel
authors.forename: Richard
authors.initials: R
authors.lastname: Herriot
authors.forename: Dinakantha
authors.initials: D
authors.lastname: Kumararatne
authors.forename: Jeremy
authors.initials: J
authors.lastname: Allgrove
authors.forename: Kate
authors.initials: K
authors.lastname: Baker
authors.forename: Helen
authors.initials: H
authors.lastname: Baxendale
authors.forename: Frances
authors.initials: F
authors.lastname: Bu'Lock
authors.forename: Helen
authors.initials: H
authors.lastname: Firth
authors.forename: Andrew
authors.initials: A
authors.lastname: Gennery
authors.forename: Anthony
authors.initials: A
authors.lastname: Holland
authors.forename: Claire
authors.initials: C
authors.lastname: Illingworth
authors.forename: Nigel
authors.initials: N
authors.lastname: Mercer
authors.forename: Merel
authors.initials: M
authors.lastname: Pannebakker
authors.forename: Andrew
authors.initials: A
authors.lastname: Parry
authors.forename: Anne
authors.initials: A
authors.lastname: Roberts
authors.forename: Beverly
authors.initials: B
authors.lastname: Tsai-Goodman
mesh_terms: D002648:Child; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics / Q000628:therapy*; D006801:Humans; D010348:Patient Care Team