Undeleting the voice of people with 22q11 deletion syndrome: A scoping review

Abstract

Background

22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans characterized by widely variable clinical manifestations. The resulting health challenges impact the well-being and quality of life of the affected individuals and their families. Although the opinion of formal and informal caregivers is of high importance, little literature discusses the perspective of the affected individuals themselves on what it means to live with a chronic condition like 22q11DS. The objective of this scoping review is to give a holistic view of the lived experiences of people diagnosed with 22q11DS by critically synthesizing the existing empirical literature on the topic.

Methods

We systematically searched six databases: PubMed, Embase, Scopus, CINAHL, Web of Science and Psychinfo and used Google Scholar to cover also grey literature. We included only empirical studies regardless of the methodology used and we followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR).

Results

This scoping review resulted in the analysis of 11 papers. Children, adolescents and older adults with 22q11DS were less represented in the retrieved studies compared to young adults. Two themes and various subthemes were identified. Regarding daily life challenges, supported independence is a subject commonly explored, but also the desire to be with others and knowledge around 22q11DS were widely discussed. Additionally, in this review, family support, societal care and professional healthcare services touch upon the social support and healthcare services. Multidisciplinary and transitional care were considered essential but lacking among medical institutions.

Conclusions

Further and more inclusive studies of individuals with 22q11DS are required to aid formal and informal caregivers in providing a more patient-centered support and thus to improve the overall well-being of people living with 22q11DS.