• DMP ID: 10.48321/D1930S
  • Version: 05 Nov 2021

This page describes a data management plan written for the São Paulo Research Foundation (fapesp.br) using the DMPTool.

Qualidade de vida de famílias e indivíduos que têm Síndrome de Rett no Brasil (Quality of life of families and individuals with Rett Syndrome in Brazil)

Read the data management plan

Contributors to this project

Project details

  • Project Start: November 01, 2020
  • Project End: December 31, 2022
  • Created: November 05, 2021
  • Modified: November 05, 2021
  • Ethical issues related to data that this DMP describes? yes https://plataformabrasil.saude.gov.br/

Citation

  • When citing this DMP use:
    Débora Gusmão Melo. (2021). "Qualidade de vida de famílias e indivíduos que têm Síndrome de Rett no Brasil (Quality of life of families and individuals with Rett Syndrome in Brazil)" [Data Management Plan]. DMPHub. https://doi.org/10.48321/D1930S
  • When connecting to this DMP to related project outputs (such as datasets) use the ID:
    https://doi.org/10.48321/D1930S

Funding status and sources for this project

Project description

  • Rett syndrome (RTT) is a rare genetic neurodevelopmental disease, with an estimated global incidence of 1: 10,000 to15,000 live births in the female sex. Clinically, it is characterized by normal development until 6 to 18 months that is followed by a period of developmental delay, subsequent rapid regression, a pseudo-stationary period, and slow deterioration. People with RTT will require specific care that will demand family support.

    In this study, we sought to assess the family quality of life (FQoL) of Brazilian families who have children with RTT, as well as to analyze some dimensions of the health-related quality of life (HRQoL) of people with RTT. Additionally, we sought to assess the correlation of FQoL with sociodemographic variables and the clinical and individual characteristics of people with RTT.

    This is a quantitative, cross-sectional, descriptive research developed with the formal support of the “Associação Brasileira de Síndrome de Rett” (ABRE-TE). All 400 families linked to ABRE-TE with children between the ages of 2 and 25 were invited to participate. Data was collected by completing four questionnaires: the “profile of the person with RTT” form, the “family sociodemographic profile” form, the Pediatric Quality of Life Inventory (PedsQL), and the Beach Center Family Quality of Life Scale (BCFQoLS). The PedsQL questionnaire assesses the quality of life linked to the health of children and adolescents and has 21 to 23 items that cover four dimensions: (1) physical, (2) emotional, (3) social, and (4) school. The social and school dimensions were not investigated in this study due to the characteristics of the sample and also because of the Covid-19 pandemic, which led to social isolation and suspension from school activities. Thus, only the physical and emotional dimensions of the PedsQL were considered. The BCFQoLS is a specific scale to assess the quality of life for families that have a member with a disability and consists of 25 items, divided into five domains: (1) parental care for children, (2) family interaction, (3) emotional well-being, (4) physical/material well-being, and (5) disability-related support.

    Ultimately, we intend that this study serves as a subsidy for building a comprehensive care line for patients with rare genetic diseases, such as RTT, in accordance with the National Policy for Comprehensive Care for People with Rare Diseases in the Brazilian Unified Health System.

Planned outputs

Dataset for: Qualidade de vida de famílias e indivíduos que têm Síndrome de Rett no Brasil (Quality of life of families and individuals with Rett Syndrome in Brazil)

  • Format:Dataset

Other works associated with this research project