Quality of life of families who have children with Williams-Beuren syndrome in Brazil

Abstract

Williams-Beuren syndrome (WBS) is a rare genetic disease, which incidence is estimated in 1:10,000 individuals. It is caused by heterozygous microdeletion of a region of approximately 1.5 to 1.8 MB in 7q11.23. Intellectual disability, usually the moderate level, is found on 75% of individuals with WBS. This project aims to investigate the impact of WBS on Brazilian's family quality of life. This is a descriptive and a cross-sectional survey that will be developed with the formal support of the Brazilian Association of Williams Syndrome (Associação Brasileira da Síndrome de Williams, ABSW). We intend to investigate 50 families from the State of São Paulo who have children with SWB and are linked to ABSW. When agreeing to participate, one of the family members (preferentially the mother) should fill out two forms: the "family's sociodemographic profile" and the "SWB 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 questionnaire to evaluate the quality of life of families who have a member with disability. It consists of 25 items divided in 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. To have a better understanding of the results, we will apply the same instruments of data collection on 50 Brazilian families who have children with moderated intellectual disability due to unknown causes, comparing results of both groups (families who have children with WBS vs. families who have children with intellectual disability). In addition, we will analyze the correlation between the different domains of the BCFQOLS among themselves and the level of overall family quality of life (corresponding to the sum of the 5 domains of the BCFQOLS), and investigate the influence of socio-environmental factors and personal factors of individuals with SWB on the family quality of life. In all statistical analyses, the level of significance adopted will be 5%. Ultimately we expect this study to provide 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. (AU)