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脆性X综合征:中国的患病率、治疗与预防

Fragile X Syndrome: Prevalence, Treatment, and Prevention in China.

作者信息

Niu Manman, Han Ying, Dy Angel Belle C, Du Junbao, Jin Hongfang, Qin Jiong, Zhang Jing, Li Qinrui, Hagerman Randi J

机构信息

Department of Pediatrics, Peking University First Hospital, Beijing, China.

MIND Institute, University of California-Davis Medical Center, Sacramento, CA, United States.

出版信息

Front Neurol. 2017 Jun 6;8:254. doi: 10.3389/fneur.2017.00254. eCollection 2017.

Abstract

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. Although FXS has been studied for several decades, there is relatively little basic science or clinical research being performed on FXS in China. Indeed, there is a large gap between China and Western countries in the FXS field. China has a potentially large number of FXS patients. However, many of them are underdiagnosed or even misdiagnosed, and treatments are not always administered in the Chinese population. This review discusses the prevalence, treatment, and prevention of FXS in China to facilitate an understanding of this disease in the Chinese population.

摘要

脆性X综合征(FXS)是智力残疾最常见的遗传性病因,也是自闭症谱系障碍的主要单基因病因。尽管FXS已经被研究了几十年,但在中国,针对FXS的基础科学或临床研究相对较少。事实上,中国和西方国家在FXS领域存在很大差距。中国可能有大量的FXS患者。然而,他们中的许多人未得到充分诊断甚至被误诊,而且在中国人群中并非总能得到治疗。这篇综述讨论了中国FXS的患病率、治疗和预防,以促进中国人群对这种疾病的了解。

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