脆性X综合征的早期筛查与识别研究进展

Progress on early screening and recognition of fragile X syndrome

脆性X综合征(fragile X syndrome,FXS)是导致智力障碍和孤独症谱系障碍较常见的单基因疾病之一,其表型复杂、临床异质性大,以致早期诊断较为困难。潜在的FXS患者数量较大,存在诊断不足甚至误诊的问题。该文从基于人群的筛查和基于个体临床表型的识别两个维度,对当前FXS的筛查和早期识别方法、模式进行总结,为临床实践和规模化筛查提供支持,为疾病的管理提供参考。以基因工程、人工智能为代表的新技术,或可为FXS筛查和早期识别提供新的机会。

Fragile X syndrome(FXS)is one of the most common single-gene disorders that cause intellectual disability and autism spectrum disorders.It is characterized by a complex phenotype and clinical heterogeneity,which poses challenges for early diagnosis.The number of potential FXS patients is large,and many of them face the dilemma of under-diagnosis or even misdiagnosis.This paper provides an overview of current screening and early identification methods and models for FXS,encompassing population-based screening approaches as well as individual clinical phenotype-based identification strategies.These finding's offer valuable support for clinical practice,mass screening and disease management.Furthermore,advancements in genetic engineering and artificial intelligence technology hold promise to revolutionize FXS screening and early identification.