Inequities in diagnosis of Fragile X syndrome in Colombia.
作者： Wilmar Saldarriaga-Gil , Andrés Fandiño-Losada , Randi Hagerman , Flora Tassone , Ana Maria Cabal-Herrera
DOI: 10.1111/JAR.12863
关键词:
摘要: 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 diagnosis FXS. this study, we aimed to describe diagnostic trends FXS in Colombia. METHODS Data were included on 1322 individuals obtained based data from only 2 databases available. Sociodemographic information related process study. RESULTS The average age at time with full mutation (FM) was 26.9 ± 2.57 years strongly dependent sex socioeconomic status. Most a molecular main cities. CONCLUSION overall later life than reports other countries. Restricted access through national health system might explain discrepancy
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