Quality of life of families who have children with Epidermolysis Bullosa syndrome in Brazil

Abstract

Epidermolysis bullosa (EB) is a rare genetic disease, with estimated incidence of 19:1,000,000 live births. Its types and subtypes are caused by mutations in several genes, which encode proteins involved in the mechanical support of the skin. Therefore, patients with EB have fragile skin, which facilitates the formation of blisters and lesions. This project aims to investigate the impact of EB on the Brazilian families' quality of life. This is a descriptive and cross-sectional research that will be developed with the formal support of the DEBRA-Brazil (Dystrophic Epidermolysis Bullosa Research Association). All families who have children with EB and are linked to the DEBRA-Brazil will be invited to participate in the survey. When agreeing to participate, one of the family members (preferentially the mother) should fill out two forms: the "family's sociodemographic profile" and the "EB person profile", and the functional indexes of Barthel and Lawton & Brody, as well as the "Beach Center Family Life Quality Scale" (BCFQOLS). The BCFQOLS is a specific scale for assessing the quality of life of families who have a disabled member. It is composed of 25 items, divided into 5 domains (parenting, family interaction, emotional well-being, physical/material well-being and disability-related supports), and it was recently validated for the Portuguese language. We will analyze the correlation between the different domains of the BCFQOLS among themselves and the level of general family quality of life (corresponding to the sum of the 5 domains of the BCFQOLS), and will investigate the influence of socioenvironmental and personal factors of the individuals with EB on the family quality of life. The level of significance adopted will be 5% in all statistical analyzes. Ultimately, we intend that this study provides subsidies for the development of a comprehensive care line for patients with genetic diseases in the Brazilian Health System, according to National Policy on Comprehensive Care for People with Rare Diseases.