ARTICLE IN PRESSGenetics in Medicine(2023)■，100344GeneticsMedicineAn Official Journal of the ACMGELSEVIERwww.journals.elsevier.com/genetics-in-medicineREVIEWUpdated clinical practice recommendations formanaging adults with 22q11.2 deletion syndromeErik Boot12.3*,Solveig Oskarsdottir5.*,Joanne C.Y.Loo2,Terrence Blaine Crowley,Ani Orchanian-Cheff',Danielle M.Andrade,Jill M.Arganbright,Rene M.Castelein10,Christine Cserti-Gazdewich1,Steven de Reuver1,Ania M.Fiksinski3.12Gunilla Klingberg3,Anthony E.Lang,Maria R.Mascarenhas15.16,Edward M.Moss17,Beata Anna Nowakowska18,Erwin Oechslin19,Lisa Palmer2,Gabriela M.Repetto20,Nikolai Gil D.Reyes,Maude Schneider2,Candice Silversides22,Kathleen E.Sullivan16,23Ann Swillen24,Therese A.M.J.van Amelsvoort3,Jason P.Van Batavia25,26,Claudia Vingerhoets13,Donna M.McDonald-McGinn16,27.*,Anne S.Bassett2,28,29,30.*ARTICLE INFOABSTRACTArticle history:This review aimed to update the clinical practice guidelines for managing adults with 22q11.2Received 3 May 2022deletion syndrome (22q11.2DS).The 22q11.2 Society recruited expert clinicians worldwide toReceived in revised formrevise the original clinical practice guidelines for adults in a stepwise process according to best15 November 2022practices:(1)a systematic literature search(1992-2021),(2)study selection and synthesis byAccepted 15 November 2022clinical experts from 8 countries,covering 24 subspecialties,and(3)formulation of consensusAvailable online xxxxrecommendations based on the literature and further shaped by patient advocate survey results.Of 2441 22q11.2DS-relevant publications initially identified,2344 received full-text review,withKeywords:2318 meeting inclusion criteria(clinical care relevance to 22q11.2DS)including 894 with potentialAdultsrelevance to adults.The evidence base remains limited.Thus multidisciplinary recommendationsAgingrepresent statements of current best practice for this evolving field,informed by the availableClinical practice guidelinesliterature.These recommendations provide guidance for the recognition,evaluation,surveillance,DiGeorge syndromeand managementof the many emerging and chronic 22q11.2DS-associated multisystem morbiditiesTreatmentrelevant to adults.The recommendations also address key genetic counseling and psychosocialconsiderations for the increasing numbers of adults with this complex condition.2023 The Authors.Published by Elsevier Inc.on behalf of American College of MedicalGenetics and Genomics.This is an open access article under the CC BY license(http://creativecommons.org/licenses/by/4.0/)Correspondence and requests for materials should be addressed to Erik Boot,Advisium,'s Heeren Loo Zorggroep.Berkenweg 11.3818 LA Amersfoort,The Netherlands.E-mail address:erik.boot@sheerenloo.nl OR Solveig Oskarsdottir,Department of Pediatric Rheumatology and Immunology,Queen SilviaChildren's Hospital,SE416 85.Gothenburg,Sweden.E-mail address:solveig.oskarsdottir@vgregion.se OR Donna M.McDonald-McGinn,Division ofHuman Genetics,22g a
