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Inequities in diagnosis of Fragile X syndrome in Colombia
Author(s) -
SaldarriagaGil Wilmar,
CabalHerrera Ana Maria,
FandiñoLosada Andrés,
Vásquez Andrés,
Hagerman Randi,
Tassone Flora
Publication year - 2021
Publication title -
journal of applied research in intellectual disabilities
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.056
H-Index - 63
eISSN - 1468-3148
pISSN - 1360-2322
DOI - 10.1111/jar.12863
Subject(s) - fragile x syndrome , intellectual disability , autism spectrum disorder , socioeconomic status , autism , medicine , diagnostic test , pediatrics , psychiatry , population , environmental health
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.