Autism spectrum disorders (ASD) are subdivided into idiopathic (unknown) etiology and secondary, based on known etiology. There are hundreds of causes of ASD and most of them are genetic in origin or related to the interplay of genetic etiology and environmental toxicology. Approximately 30 to 50% of the etiologies can be identified when using a combination of available genetic testing. Many of these gene mutations are either core components of the Wnt signaling pathway or their modulators. The full mutation of the fragile X mental retardation 1 (FMR1) gene leads to fragile X syndrome (FXS), the most common cause of monogenic origin of ASD, accounting for ~ 2% of the cases. There is an overlap of molecular mechanisms in those with idiopathic ASD and those with FXS, an interaction between various signaling pathways is suggested during the development of the autistic brain. This review summarizes the cross talk between neurobiological pathways found in ASD and FXS. These signaling pathways are currently under evaluation to target specific treatments in search of the reversal of the molecular abnormalities found in both idiopathic ASD and FXS.

根据已知病因，自闭症谱系障碍 (ASD) 可细分为特发性（未知）病因和继发性。自闭症谱系障碍 (ASD) 的病因有数百种，其中大多数是遗传性的，或者与遗传病因学和环境毒理学的相互作用有关。结合使用现有的基因检测，可以识别大约 30% 至 50% 的病因。许多这些基因突变要么是 Wnt 信号通路的核心成分，要么是它们的调节剂。脆性 X 智力低下 1 ( FMR1 ) 基因的完全突变导致脆性 X 综合征 (FXS)，这是自闭症谱系障碍 (ASD) 单基因起源的最常见原因，约占病例的 2%。特发性 ASD 患者和 FXS 患者的分子机制存在重叠，表明在自闭症大脑的发育过程中各种信号通路之间存在相互作用。这篇综述总结了 ASD 和 FXS 中发现的神经生物学通路之间的相互影响。目前正在评估这些信号通路，以针对特定治疗，寻找逆转特发性 ASD 和 FXS 中发现的分子异常的方法。