Quality of life of families who have children with Rubinstein-Taybi syndrome in Brazil

Abstract

Rubinstein-Taybi syndrome (RSTS) is a rare genetic disease with an estimated incidence of 1: 100,000 to 125,000 live births, characterized by intellectual disability, short stature, and typical dysmorphic features. This project aims to investigate the impact of RSTS on the Brazilian families' quality of life. This is descriptive and cross-sectional research that will be developed with the formal support of the ARTS-Brazil (Brazilian Association of relatives and friends of the persons who have Rubinstein-Taybi syndrome). All families that have children with RSTS and are linked to the ARTS-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 "RSTS 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 factors and personal factors of individuals with RSTS on the quality of family life. In all statistical analyzes, the level of significance adopted will be 5%. 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.