Department of Paediatrics, Faculty of Medicine, College of Health Sciences, Nnamdi Azikiwe University, Nnewi Campus, Nnewi, Anambra, Nigeria.
University of California Davis MIND Institute, Sacramento, California, USA.
Clin Genet. 2025 Jan;107(1):56-66. doi: 10.1111/cge.14619. Epub 2024 Sep 18.
Fragile X syndrome (FXS) is a significant cause of intellectual disability and autism, while Fragile X Premutation -Associated Conditions (FXPAC) are a significant cause of morbidity and mortality globally. This study assessed the level of knowledge and perceptions about FXS and FXPAC among doctors in Nigeria. It was a web-based, cross-sectional study conducted among a cohort of doctors in Nigeria. Socio-demographic profile, knowledge of FXS, perceptions about FXS, knowledge of FXPAC, experience of doctors, and suggested ways of improving knowledge and management of FXS were obtained. Data were analyzed using STATA 16.0. Chi-square and Fisher's exact tests of association were used to determine the association between variables, with the significance level set at p < 0.05. A total of 274 doctors participated in the study. A significant proportion of respondents had limited knowledge about the clinical features of FXS. Nine of ten (90.0%) participants with good knowledge of FXS had good perceptions of FXS management. This was statistically significant (p < 0.001). There was a high nonresponse rate to what FXPAC is (164/274, 59.9%) among the respondents because of insufficient knowledge. Suboptimal knowledge of FXS which influenced perception was noted among doctors. More strategies should be considered to improve doctors' knowledge and management of FXS and FXPAC in Nigeria.
脆性 X 综合征（FXS）是智力残疾和自闭症的重要原因，而脆性 X 前突变相关病症（FXPAC）则是全球发病率和死亡率的重要原因。本研究评估了尼日利亚医生对 FXS 和 FXPAC 的知识水平和认知。这是一项在尼日利亚医生队列中进行的基于网络的横断面研究。获得了社会人口统计学特征、FXS 知识、对 FXS 的认知、FXPAC 知识、医生的经验以及提高 FXS 知识和管理的建议方法。使用 STATA 16.0 进行数据分析。使用卡方检验和 Fisher 确切检验来确定变量之间的关联，显著性水平设置为 p < 0.05。共有 274 名医生参与了这项研究。相当一部分受访者对 FXS 的临床特征知之甚少。对 FXS 有良好了解的十分之九（90.0%）参与者对 FXS 管理有良好的认知。这具有统计学意义（p < 0.001）。由于知识不足，受访者对 FXPAC 是什么的回答率很高（164/274，59.9%）。医生对 FXS 的知识不足，影响了他们的认知。应该考虑更多的策略来提高尼日利亚医生对 FXS 和 FXPAC 的知识水平和管理能力。
