Progress on early screening and recognition of fragile X syndrome
10.3760/cma.j.issn.1673-4408.2024.03.004
- VernacularTitle:脆性X综合征的早期筛查与识别研究进展
- Author:
Wenhao LI
1
;
Lingling WU
;
Chao SONG
Author Information
1. 国家儿童健康与疾病临床医学研究中心 浙江大学医学院附属儿童医院发育行为儿科，杭州 310052
- Keywords:
Fragile X syndrome;
Early screening;
Early identification
- From:
International Journal of Pediatrics
2024;51(3):159-163
- CountryChina
- Language:Chinese
-
Abstract:
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.
