Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known about its aetiology, risk factors, and disease progression. There are currently neither validated biomarkers for diagnostic screening nor specific medication for autism. Over the last two decades, there have been remarkable advances in genetics, with hundreds of genes identified and validated as being associated with a high risk for autism. The convergence of neuroscience methods is becoming more widely recognized for its significance in elucidating the pathological mechanisms of autism. Efforts have been devoted to exploring the behavioural functions, key pathological mechanisms and potential treatments of autism. Here, as we highlight in this review, emerging evidence shows that signal transduction molecular events are involved in pathological processes such as transcription, translation, synaptic transmission, epigenetics and immunoinflammatory responses. This involvement has important implications for the discovery of precise molecular targets for autism. Moreover, we review recent insights into the mechanisms and clinical implications of signal transduction in autism from molecular, cellular, neural circuit, and neurobehavioural aspects. Finally, the challenges and future perspectives are discussed with regard to novel strategies predicated on the biological features of autism.

自闭症谱系障碍（ASD）是一种普遍且复杂的神经发育障碍，具有很强的遗传基础。尽管自闭症的发病率迅速上升，但对其病因、危险因素和疾病进展知之甚少。目前既没有经过验证的用于诊断筛查的生物标志物，也没有针对自闭症的特效药物。在过去的二十年里，遗传学取得了显着的进步，数百个基因被识别并验证为与自闭症高风险相关。神经科学方法的融合因其在阐明自闭症病理机制方面的重要性而得到越来越广泛的认可。一直致力于探索自闭症的行为功能、关键病理机制和潜在治疗方法。正如我们在这篇综述中强调的那样，新出现的证据表明信号转导分子事件涉及转录、翻译、突触传递、表观遗传学和免疫炎症反应等病理过程。这种参与对于发现自闭症的精确分子靶标具有重要意义。此外，我们从分子、细胞、神经回路和神经行为方面回顾了对自闭症信号转导机制和临床意义的最新见解。最后，讨论了基于自闭症生物学特征的新策略的挑战和未来前景。