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Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome

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dc.contributor.authorBoot, Erik
dc.contributor.authorÓskarsdóttir, Sólveig
dc.contributor.authorC Y Loo, Joanne
dc.contributor.authorCrowley, Terrence
dc.contributor.authorOrchanian, Ani
dc.contributor.authorAndrade, Danielle
dc.contributor.authorArganbright, Jill
dc.contributor.authorCastelein, René
dc.contributor.authorCserti-Gazdewich, Christine
dc.contributor.authorDe Reuver, Steven
dc.contributor.authorFiksinski, Ania
dc.contributor.authorKlingberg, Gunilla
dc.contributor.authorLang, Anthony
dc.contributor.authorMascarenhas, Maria
dc.contributor.authorMoss, Edward
dc.contributor.authorAnna, Beata
dc.contributor.authorOechslin, Erwin
dc.contributor.authorPalmer, Lisa
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorD Reyes, Nikolai
dc.contributor.authorSchneider, Maude
dc.contributor.authorSilversides, Candice
dc.contributor.authorSullivan, Kathleen
dc.contributor.authorSwillen, Ann
dc.contributor.authorVan Amelsvoort, Therese
dc.contributor.authorVan Batavia, Jason
dc.contributor.authorVingerhoets, Claudia
dc.contributor.authorMcDonald, Donna
dc.contributor.authorBassett, Anne
dc.date.accessioned2024-06-04T17:19:42Z
dc.date.available2024-06-04T17:19:42Z
dc.date.issued2023
dc.description.abstractThis review aimed to update the clinical practice guidelines for managing adults with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society recruited expert clinicians worldwide to revise the original clinical practice guidelines for adults in a stepwise process according to best practices: (1) a systematic literature search (1992-2021), (2) study selection and synthesis by clinical experts from 8 countries, covering 24 subspecialties, and (3) formulation of consensus recommendations 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, with 2318 meeting inclusion criteria (clinical care relevance to 22q11.2DS) including 894 with potential relevance to adults. The evidence base remains limited. Thus multidisciplinary recommendations represent statements of current best practice for this evolving field, informed by the available literature. These recommendations provide guidance for the recognition, evaluation, surveillance, and management of the many emerging and chronic 22q11.2DS-associated multisystem morbidities relevant to adults. The recommendations also address key genetic counseling and psychosocial considerations for the increasing numbers of adults with this complex condition.
dc.description.versionAceptada
dc.identifier.citationBoot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS. Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100344. doi: 10.1016/j.gim.2022.11.012
dc.identifier.doihttps://doi.org/10.1016/j.gim.2022.11.012
dc.identifier.urihttps://hdl.handle.net/11447/9020
dc.language.isoen
dc.subjectAdults; Aging
dc.subjectClinical practice guidelines
dc.subjectDiGeorge syndrome
dc.subjectTreatment
dc.titleUpdated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceGenetics in Medicine
dspace.entity.typePublication
relation.isAuthorOfPublication98c75303-d87e-4c17-9d27-d9d710229223
relation.isAuthorOfPublication.latestForDiscovery98c75303-d87e-4c17-9d27-d9d710229223

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