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

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dc.contributor.authorÓskarsdóttir, Sólveig
dc.contributor.authorBoot, Erik
dc.contributor.authorBlaine Crowley, Terrence
dc.contributor.authorLoo, Joanne
dc.contributor.authorArganbright, Jill
dc.contributor.authorArmando, Marco
dc.contributor.authorBaylis, Adriane
dc.contributor.authorBreetvelt, Elemi
dc.contributor.authorCastelein, René
dc.contributor.authorChadehumbe, Madeline
dc.contributor.authorCielo, Christopher
dc.contributor.authorDe Reuver, Steven
dc.contributor.authorEliez, Stephan
dc.contributor.authorFiksinsk, Ania
dc.contributor.authorForbes, Brian
dc.contributor.authorGallagher, Emily
dc.contributor.authorHopkins, Sarah
dc.contributor.authorJackson, Oksana
dc.contributor.authorLevitz-Katz, Lorraine
dc.contributor.authorKlingberg, Gunilla
dc.contributor.authorLambert, Michele
dc.contributor.authorMarino, Bruno
dc.contributor.authorMascarenhas, Maria
dc.contributor.authorMoldenhauer, Julie
dc.contributor.authorMoss, Edward
dc.contributor.authorNowakowska, Beata
dc.contributor.authorOrchanian-Cheff, Ani
dc.contributor.authorPutotto, Carolina
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorSchindewolf, Erica
dc.contributor.authorSchneider, Maude
dc.contributor.authorSolot, Cynthia
dc.contributor.authorSullivan, Kathleen
dc.contributor.authorSwillen, Ann
dc.contributor.authorUnolt, Marta
dc.contributor.authorVan Batavia, Jason
dc.contributor.authorVingerhoets, Claudia
dc.contributor.authorVorstman, Jacob
dc.contributor.authorBassett, Anne
dc.contributor.authorMcDonald, Donna
dc.date.accessioned2024-06-04T18:07:03Z
dc.date.available2024-06-04T18:07:03Z
dc.date.issued2023
dc.description.abstractThis review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study selection and data extraction by clinical experts from 9 different countries, covering 24 subspecialties, and (3) creation of a draft consensus document based on the literature and expert opinion, which was further shaped by survey results from family support organizations regarding perceived needs. Of 2441 22q11.2DS-relevant publications initially identified, 2344 received full-text reviews, including 1545 meeting criteria for potential relevance to clinical care of children and adolescents. Informed by the available literature, recommendations were formulated. Given evidence base limitations, multidisciplinary recommendations represent consensus statements of good practice for this evolving field. These recommendations provide contemporary guidance for evaluation, surveillance, and management of the many 22q11.2DS-associated physical, cognitive, behavioral, and psychiatric morbidities while addressing important genetic counseling and psychosocial issues.
dc.description.versionAceptada
dc.identifier.citationÓskarsdóttir S, Boot E, Crowley TB, Loo JCY, Arganbright JM, Armando M, Baylis AL, Breetvelt EJ, Castelein RM, Chadehumbe M, Cielo CM, de Reuver S, Eliez S, Fiksinski AM, Forbes BJ, Gallagher E, Hopkins SE, Jackson OA, Levitz-Katz L, Klingberg G, Lambert MP, Marino B, Mascarenhas MR, Moldenhauer J, Moss EM, Nowakowska BA, Orchanian-Cheff A, Putotto C, Repetto GM, Schindewolf E, Schneider M, Solot CB, Sullivan KE, Swillen A, Unolt M, Van Batavia JP, Vingerhoets C, Vorstman J, Bassett AS, McDonald-McGinn DM. Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome. Genet Med. 2023 Mar;25(3):100338. doi: 10.1016/j.gim.2022.11.006
dc.identifier.doihttps://doi.org/10.1016/j.gim.2022.11.006
dc.identifier.urihttps://hdl.handle.net/11447/9022
dc.language.isoen
dc.subject22q11.2 deletion syndrome
dc.subjectChildren
dc.subjectClinical practice guidelines
dc.subjectReview
dc.subjectTreatment.
dc.titleUpdated clinical practice recommendations for managing children 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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