Inequities in diagnosis of Fragile X syndrome in Colombia.

DIAGNOSIS of fragile X syndrome; HEALTH services accessibility; GENETIC mutation; MOLECULAR diagnosis; HEALTH status indicators; MEDICAL care costs; ALLELES; GENETIC testing; SOCIOECONOMIC factors; AGE factors in disease; HEALTH insurance

Background: Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability and autism spectrum disorder (ASD). In Colombia, there are no screening or testing protocols established for the diagnosis of FXS. In this study, we aimed to describe the diagnostic trends of FXS in Colombia. Methods: Data were included on 1322 individuals obtained based on data from the only 2 databases available. Sociodemographic information and data related to the diagnostic process were obtained and included in this study. Results: The average age at the time of diagnosis for individuals with the full mutation (FM) was of 26.9 ± 2.57 years and was strongly dependent on sex and socioeconomic status. Most individuals with a molecular diagnosis were from the main cities. Conclusion: The overall age of diagnosis of FXS is later in life than reports from other countries. Restricted access to molecular testing through the national health system might explain this discrepancy in Colombia. [ABSTRACT FROM AUTHOR]

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