Autism spectrum disorder (ASD) is a largely heritable, multistage prenatal disorder that impacts a child's ability to perceive and react to social information. Most ASD risk genes are expressed prenatally in many ASD-relevant brain regions and fall into two categories: broadly expressed regulatory genes that are expressed in the brain and other organs, and brain-specific genes. In trimesters one to three (Epoch-1), one set of broadly expressed (the majority) and brain-specific risk genes disrupts cell proliferation, neurogenesis, migration, and cell fate, while in trimester three and early postnatally (Epoch-2) another set (the majority being brain specific) disrupts neurite outgrowth, synaptogenesis, and the 'wiring' of the cortex. A proposed model is that upstream, highly interconnected regulatory ASD gene mutations disrupt transcriptional programs or signaling pathways resulting in dysregulation of downstream processes such as proliferation, neurogenesis, synaptogenesis, and neural activity. Dysregulation of signaling pathways is correlated with ASD social symptom severity. Since the majority of ASD risk genes are broadly expressed, many ASD individuals may benefit by being treated as having a broader medical disorder. An important future direction is the noninvasive study of ASD cell biology.

中文翻译：

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自闭症谱系障碍 (ASD) 的产前起源：自闭症谱系障碍 (ASD) 发生的时间、内容和方式


自闭症谱系障碍 (ASD) 是一种很大程度上具有遗传性的多阶段产前疾病，会影响儿童感知社会信息和做出反应的能力。大多数自闭症谱系障碍风险基因在产前就在许多与自闭症谱系障碍相关的大脑区域中表达，分为两类：在大脑和其他器官中表达的广泛表达的调节基因，以及大脑特异性基因。在妊娠第一至第三期 (Epoch-1)，一组广泛表达（大多数）和大脑特异性风险基因会破坏细胞增殖、神经发生、迁移和细胞命运，而在妊娠第三期和产后早期 (Epoch-2)另一组（大多数是大脑特异性的）会破坏神经突的生长、突触发生和皮质的“布线”。一个提出的模型是，上游、高度互连的调节性 ASD 基因突变会破坏转录程序或信号通路，导致增殖、神经发生、突触发生和神经活动等下游过程失调。信号通路的失调与 ASD 社会症状的严重程度相关。由于大多数自闭症谱系障碍风险基因广泛表达，许多自闭症谱系障碍患者可能会因患有更广泛的疾病而被治疗而受益。未来一个重要的方向是 ASD 细胞生物学的无创研究。