Quality of life of families and individuals with Rett Syndrome in Brazil

Abstract

Rett syndrome (Rett syndrome, RS) is a rare genetic disease, with an estimated global incidence of 1: 15,000 live births in the female sex. Clinically, it is a neurodevelopmental disease characterized by normal development until 6 to 18 months followed by a period of developmental delay, subsequent rapid regression, a pseudo-stationary period and slow deterioration. People with RS will require specific care that will require family support.Objective: Investigate the impact of RS on the health-related quality of life of children and adolescents with the syndrome and on the family quality of life.Methods: This is a quantitative, cross-sectional, descriptive research that will be developed with the formal support of the "Associação Brasileira de Síndrome de Rett" (ABRE-TE). All 350 families linked to ABRE-TE with children between the ages of 2 and 18 will be invited to participate. Data will be collected by completing five questionnaires: the "profile of the person with RS" form, the "family sociodemographic profile" form, the Barthel functionality index, the Pediatric Quality of Life Inventory (PedsQL), and the Beach Center Family Quality of Life Scale (BCFQoLS). The Barthel index belongs to the field of assessment of activities of daily living and assesses the level of independence for performing ten basic activities. The PedsQL questionnaire assesses the quality of life linked to the health of children and adolescents and has 21 to 23 items that cover the dimensions: (1) physical, (2) emotional, (3) social, and (4) school. The BCFQoLS is a specific scale to assess quality of life for families that have a member with a disability and consists in 25 items, divided into 5 domains: (1) parental care for children, (2) family interaction, (3) emotional well-being, (4) physical/material well-being, and (5) disability-related support.Expected results: Ultimately, it is intended that this study serves as a subsidy for building a comprehensive care line for patients with rare genetic diseases, such as Rett syndrome, in line with the National Policy for Comprehensive Care for People with Rare Diseases in the Unified Health System.