Casos de síndrome do X frágil no Brasil: levantamento de dados no SINASC durante os anos de 2002 a 2022 e busca na literatura

Abstract

The Fragile X Syndrome (FXS) is a rare genetic condition recognized as the leading hereditary cause of mental retardation and the second most common genetic cause of intellectual disability. It affects individuals of all ethnic groups and races, though its prevalence is low. There is a lack of information about this syndrome, which hinders understanding. Therefore, the aim of this study was to determine the frequency of FXS cases in Brazil from 2002 to 2022, as well as to conduct a review of the syndrome in the literature.Research was conducted using data from the Brazilian Ministry of Health's Portal for Monitoring Congenital Malformations, Deformities, and Chromosomal Anomalies. The collected data included maternal age range, mother's education level, mother's marital status, locality, birthplace, race/ethnicity, child's sex, types of pregnancy, and month of gestation onset. Additionally, a literature search was conducted on cases reported from 2002 to 2022. Six cases were recorded during the selected years, with 3 of these cases occurring in Bahia, the state with the highest incidence. Four cases were male, and 3 of these patients were born to mothers aged 30-34 years. Therefore, genetic counseling is of great importance for prevention and potentially improving treatment outcomes for individuals diagnosed with the syndrome