Center for Genetic Disorders of Cognition and Behavior, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Dev Neurosci. 2011;33(5):379-94. doi: 10.1159/000330213. Epub 2011 Sep 1.
Despite early controversy, it is now accepted that a substantial proportion of children with fragile X syndrome (FXS) meets diagnostic criteria for autism spectrum disorder (ASD). This change has led to an increased interest in studying the association of FXS and ASD because of the clinical consequences of their co-occurrence and the implications for a better understanding of ASD in the general population. Here, we review the current knowledge on the behavioral, neurobiological (i.e., neuroimaging), and molecular features of ASD in FXS, as well as the insight into ASD gained from mouse models of FXS. This review covers critical issues such as the selectivity of ASD in disorders associated with intellectual disability, differences between autistic features and ASD diagnosis, and the relationship between ASD and anxiety in FXS patients and animal models. While solid evidence supporting ASD in FXS as a distinctive entity is emerging, neurobiological and molecular data are still scarce. Animal model studies have not been particularly revealing about ASD in FXS either. Nevertheless, recent studies provide intriguing new leads and suggest that a better understanding of the bases of ASD will require the integration of multidisciplinary data from FXS and other genetic disorders.
尽管早期存在争议，但现在人们普遍认为，相当一部分脆性 X 综合征（FXS）患儿符合自闭症谱系障碍（ASD）的诊断标准。这种变化导致人们对 FXS 和 ASD 之间的关联产生了更大的兴趣，因为它们的同时存在具有临床后果，并且对了解普通人群中的 ASD 具有启示意义。在这里，我们回顾了 FXS 中 ASD 的行为、神经生物学（即神经影像学）和分子特征的现有知识，以及从 FXS 小鼠模型中获得的对 ASD 的认识。这篇综述涵盖了一些关键问题，例如与智力障碍相关的疾病中 ASD 的选择性、自闭症特征与 ASD 诊断之间的差异，以及 FXS 患者和动物模型中 ASD 与焦虑之间的关系。虽然支持 FXS 中 ASD 作为一个独特实体的有力证据正在出现，但神经生物学和分子数据仍然稀缺。动物模型研究也没有特别揭示 FXS 中的 ASD。然而，最近的研究提供了有趣的新线索，并表明，要更好地理解 ASD 的基础，需要整合 FXS 和其他遗传障碍的多学科数据。
