Quality of life of families who have children with rare genetic diseases and/or intellectual disability

Abstract

This project aims to investigate the impact of rare genetic diseases and intellectual disability on Brazilian's family quality of life. It is a descriptive and a cross-sectional survey in which families who have children with rare genetic diseases (in the beginning, Cornelia de Lange, Williams-Beuren, Rubinstein-Taybi syndromes, and epidermolysis bullosa) and families who have children with intellectual disability (mild or moderate, with or without associated autism spectrum disorder) will be invited to participate. Data will be collected by fill out forms with family sociodemographic information, affected children clinical information, Barthel and Lawton and Brody's functional indexes for the sample children, as well as the "Beach Center Family Life Quality Scale" (BCFQoLS). The BCFQoLS is a specific scale to evaluate the quality of life of families who have a member with some kind of disability and has 25 items divided in 5 domains (parenting, family interaction, emotional well-being, physical/material well-being and disability-related supports). We will analyze the correlation between the different domains of the BCFQoLS and will investigate the effect of socioenvironmental and personal factors of individuals with genetic disease and/or intellectual disability on family quality of life. The level of significance adopted in the statistical analyzes will be 5%. Ultimately, we intend to contribute for the development of a comprehensive care line for individuals with genetic diseases and intellectual disability, and their families, according to National Policy on Comprehensive Care for People with Rare Diseases in the Brazilian Unified Health System. (AU)