Document Type

Article

Publication Date

3-2023

Identifier

DOI: 10.1016/j.gim.2022.11.012

Abstract

This 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.

Journal Title

Genetics in medicine : official journal of the American College of Medical Genetics

Volume

25

Issue

3

First Page

100344

Last Page

100344

MeSH Keywords

Adult; Humans; Clinical Relevance; Consensus; DiGeorge Syndrome; Genetic Counseling; Surveys and Questionnaires

Keywords

Adults; Aging; Clinical practice guidelines; DiGeorge syndrome; Treatment

Comments

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Publisher's Link: https://www.gimjournal.org/article/S1098-3600(22)01028-0/fulltext

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