2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Updated clinical practice guidelines for managing children and adults with 22q11.2 deletion syndrome

Pdf Summary

A study was conducted to update the clinical practice guidelines for managing individuals with 22q11.2 deletion syndrome (22q11.2DS), a genetic disorder that affects multiple systems in the body. The aim was to provide updated recommendations based on current knowledge and research. The study involved a systematic review of the literature, identifying 6018 publications related to 22q11.2DS. After excluding unrelated publications, 2448 were considered for analysis. The evidence in the studies was limited, mainly consisting of level III or IV studies. Therefore, the recommendations were not formally graded but provided as statements of good practice. <br /><br />The revised guidelines were developed through a stepwise process that included a literature search, data extraction by expert clinicians from different countries and subspecialties, and input from family support organizations regarding perceived needs. Additionally, leaders from 22q11.2DS patient advocacy organizations completed a survey to prioritize topics and identify barriers to care. <br /><br />The updated guidelines provide guidance on the evaluation, surveillance, and management of the various physical, cognitive, behavioral, and psychiatric issues associated with 22q11.2DS. They also address genetic counseling and psychosocial issues. The guidelines include recommendations for studies at different ages and at the time of diagnosis, as well as important considerations in patient care. It is noted that these guidelines will need to be updated as new information becomes available. <br /><br />Overall, these updated guidelines aim to improve the awareness, access, genetic testing, and genetic counseling for individuals with 22q11.2DS. The study highlights the importance of collaboration and knowledge sharing among experts in different countries and subspecialties to provide optimal care for individuals with this genetic disorder. The recommendations also emphasize the need for easily accessible and shareable knowledge, including through social media platforms. Further research and updates to the guidelines are expected as more information on 22q11.2DS becomes available.

Asset Subtitle

Co-Author - Anne Bassett, MD; Co-Author - Solveig Oskarsdottir, MD, PhD; Co-Author - Erik Boot, MD; Presenting Author - Donna M. McDonald-McGinn, MS;

Meta Tag

Chromosomal Abnormalities

Clinical Cytogenetics

Clinical History

Delineation of Diseases

Co-Author Anne Bassett, MD

Co-Author Solveig Oskarsdottir, MD, PhD

Co-Author Erik Boot, MD

Presenting Author Donna M. McDonald-McGinn, MS

Keywords

clinical practice guidelines

22q11.2 deletion syndrome

genetic disorder

updated recommendations

evidence

evaluation

surveillance

management

genetic counseling

patient care