Exploring Health Literacy in 22q11.2 Deletion Syndrome: A Comprehensive Study on Access to Information, Teleorientation, and Social Media Engagement in Brazil

Abstract

Abstract Background Health literacy enables individuals to access, comprehend, and utilize essential health information and services to make informed decisions about their well-being. In Brazil, disparities in access to education persist, raising concerns regarding health literacy, particularly in the complex context of rare genetic diseases. One such condition is the 22q11.2 Deletion Syndrome (22q11.2 DS), a rare and heterogeneous genetic disorder that demands multidisciplinary lifelong healthcare support. This paper addresses the health literacy of Brazilian individuals with 22q11.2 DS and their caregivers. It explores the potential use of teleorientation and social media accounts for disseminating scientific knowledge about 22q11.2 DS, addressing families' doubts, and surveying to assess comprehension of the disease. Results The findings underscore the knowledge gap among caregivers of people with 22q11.2. The main doubts of the families remain on recognition and care of 22q11.2 DS clinical signs. The gap of knowledge about 22q11.2 DS, in turn, significantly affects aspects of the quality of life of caregivers associated with the environment of residence. Conclusions This study highlights the intricate correlation between education, health literacy, access to healthcare, and quality of life in families affected by 22q11.2 DS. Within this context, this article brings a set of strategies that can contribute to improving health literacy regarding 22q11.2 DS in Brazil.