Feinstein C, Reiss A L
Division of Child and Adolescent Psychiatry and Child Development, Stanford University School of Medicine, California 94305-5719, USA.
J Autism Dev Disord. 1998 Oct;28(5):393-405. doi: 10.1023/a:1026000404855.
The relationship between the fragile X syndrome (FXS) and autism is reviewed. Shortly after the FXS was first described, it was noted that certain behaviors commonly found in afflicted individuals resemble certain features of autism. Research concerning a possible relationship between these conditions is summarized. The outcome of this research indicates that FXS is not a common cause of autism, although the number of individuals with FXS who meet diagnostic criteria for autism is higher than can be accounted for by chance. The major focus of this paper highlights that FXS is a well-defined neurogenetic disease that includes a cognitive behavioral phenotype, and has both a known biological cause and an increasing well-delineated pathogenesis. Autism is a behaviorally defined syndrome whose syndromic boundaries and biological causes are not known. These profound differences complicate comparisons and causal discussions. However, the behavioral neurogenetic information available about FXS suggests certain pathways for future research directed at elucidating the syndrome of autism.
本文综述了脆性X综合征（FXS）与自闭症之间的关系。在脆性X综合征首次被描述后不久，人们就注意到，患病个体中常见的某些行为与自闭症的某些特征相似。本文总结了关于这两种疾病之间可能存在的关系的研究。该研究结果表明，脆性X综合征并非自闭症的常见病因，尽管符合自闭症诊断标准的脆性X综合征患者数量高于偶然概率。本文的主要重点强调，脆性X综合征是一种明确的神经遗传性疾病，具有认知行为表型，有已知的生物学病因且发病机制也越来越清晰。自闭症是一种由行为定义的综合征，其综合征界限和生物学病因尚不清楚。这些巨大差异使得两者的比较和因果关系讨论变得复杂。然而，关于脆性X综合征的行为神经遗传学信息为未来旨在阐明自闭症综合征的研究提供了某些途径。
