Group on Congenital Malformations and Dysmorphology, Faculty of Health, Universidad del Valle, Hospital Universitario del Valle, Cali, Colombia.
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis, Sacramento, CA, USA.
J Appl Res Intellect Disabil. 2021 May;34(3):830-839. doi: 10.1111/jar.12863. Epub 2021 Feb 4.
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.
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.
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.
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.
脆性 X 综合征（FXS）是遗传性智力障碍和自闭症谱系障碍（ASD）最常见的原因。在哥伦比亚，尚未建立用于 FXS 诊断的筛查或检测方案。本研究旨在描述哥伦比亚 FXS 的诊断趋势。
本研究纳入了基于仅有的 2 个数据库中的数据获得的 1322 名个体的数据。获取了社会人口统计学信息和与诊断过程相关的数据，并将其纳入本研究。
具有完全突变（FM）的个体的平均诊断年龄为 26.9±2.57 岁，并且强烈依赖于性别和社会经济地位。大多数具有分子诊断的个体来自主要城市。
FXS 的总体诊断年龄晚于其他国家的报告。国家卫生系统对分子检测的限制可能解释了哥伦比亚的这种差异。
