Inequities in diagnosis of Fragile X syndrome in Colombia

Wilmar Saldarriaga-Gil, Ana Maria Cabal-Herrera, Andrés Fandiño-Losada, Andrés Vásquez, Randi Hagerman, Flora Tassone

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


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.

Original languageEnglish (US)
JournalJournal of Applied Research in Intellectual Disabilities
StateAccepted/In press - 2021


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

ASJC Scopus subject areas

  • Education
  • Developmental and Educational Psychology


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