Niu Manman, Han Ying, Dy Angel Belle C, Du Junbao, Jin Hongfang, Qin Jiong, Zhang Jing, Li Qinrui, Hagerman Randi J
1 Department of Pediatrics, Peking University First Hospital, Beijing, China.
2 MIND Institute, University of California, Davis, CA, USA.
J Child Neurol. 2017 Sep;32(10):903-909. doi: 10.1177/0883073817712875. Epub 2017 Jun 15.
Fragile X syndrome (FXS) is recognized as the most common genetic cause of intellectual disability and autism spectrum disorder (ASD). Although symptoms of ASD are frequently observed in patients with FXS, researchers have not yet clearly determined whether the symptoms in patients with FXS differ from the symptoms in patients without ASD or nonsyndromic ASD. Behavioral similarities and differences between FXS and ASD are important to improve our understanding of the causes and correlations of ASD with FXS. Based on the evidence presented in this review, individuals with FXS and comorbid ASD have more severe behavioral problems than individuals with FXS alone. However, patients with FXS and comorbid ASD exhibit less severe impairments in the social and communication symptoms than patients with nonsyndromic ASD. Individuals with FXS also present with anxiety and seizures in addition to comorbid ASD symptoms, and differences in these conditions are noted in patients with FXS and ASD. This review also discusses the role of fragile X mental retardation 1 protein (FMRP) in FXS and ASD phenotypes.
脆性X综合征（FXS）被认为是智力障碍和自闭症谱系障碍（ASD）最常见的遗传病因。虽然FXS患者经常出现ASD症状，但研究人员尚未明确确定FXS患者的症状是否与无ASD或非综合征性ASD患者的症状不同。FXS和ASD之间行为上的异同对于增进我们对ASD病因以及ASD与FXS相关性的理解很重要。基于本综述所提供的证据，患有FXS合并ASD的个体比仅患有FXS的个体有更严重的行为问题。然而，与非综合征性ASD患者相比，患有FXS合并ASD的患者在社交和沟通症状方面的损害较轻。患有FXS的个体除了合并ASD症状外还会出现焦虑和癫痫发作，并且在患有FXS和ASD的患者中注意到了这些情况的差异。本综述还讨论了脆性X智力低下蛋白1（FMRP）在FXS和ASD表型中的作用。
