Quality of life of families who have children with Cornelia de Lange syndrome in Brazil

Abstract

Cornelia de Lange syndrome (CdLS) is a rare genetic disease, which incidence is estimated in 1:50,000 individuals. From the etiological perspective, CdLS has locus heterogeneity and, to date, mutations in five different genes have been implicated in its pathophysiology. The clinical picture is also varied, consisting mainly of typical facial dysmorphisms, pre and postnatal growth retardation, and upper limb reduction defects. Despite the marked phenotypic variability, intellectual deficiency, usually severe to profound, is present in most individuals with the classic CdLS phenotype. This project aims to investigate the impact of CdLS on Brazilian's family quality of life. It is a descriptive and a cross-sectional survey that will be developed with the formal support of the Brazilian Association of Cornelia de Lange Syndrome (Associação Brasileira Cornelia de Lange, CdLS-Brasil). All families whose children have CdLS and who are linked to the CdLS-Brasil will be invited to participate and the sample number will be determined by exhaustion. When agreeing to participate, one of the family members (preferentially the mother) should fill out two forms: the "family's sociodemographic profile" and the "CdLS person profile", 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 in 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 CdLS 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 CdLS 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)