Inequities in diagnosis of Fragile X syndrome in Colombia

J Appl Res Intellect Disabil. 2021 May;34(3):830-839. doi: 10.1111/jar.12863. Epub 2021 Feb 4.

Abstract

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.

Keywords: FMR1 full mutation; FMR1 premutation; age at the time of diagnosis; financial coverage of molecular tests; frequencies of FM and PM alleles; type of health insurance.

MeSH terms

  • Alleles
  • Autism Spectrum Disorder*
  • Colombia / epidemiology
  • Fragile X Mental Retardation Protein / genetics
  • Fragile X Syndrome* / diagnosis
  • Fragile X Syndrome* / epidemiology
  • Fragile X Syndrome* / genetics
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / epidemiology
  • Intellectual Disability* / genetics

Substances

  • Fragile X Mental Retardation Protein