Autism spectrum disorder (ASD) is defined by impaired social interaction and communication accompanied by stereotyped behaviors and restricted interests. Although ASD is common, its genetic and clinical features are highly heterogeneous. A number of recent breakthroughs have dramatically advanced our understanding of ASD from the standpoint of human genetics and neuropathology. These studies highlight the period of fetal development and the processes of chromatin structure, synaptic function, and neuron-glial signaling. The initial efforts to systematically integrate findings of multiple levels of genomic data and studies of mouse models have yielded new clues regarding ASD pathophysiology. This early work points to an emerging convergence of disease mechanisms in this complex and etiologically heterogeneous disorder.

中文翻译：

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自闭症谱系疾病的新出现：遗传学和病理学。

自闭症谱系障碍（ASD）的定义是社交互动和沟通受损，伴有刻板的行为和受限制的兴趣。尽管ASD很常见，但其遗传和临床特征却高度异质。从人类遗传学和神经病理学的角度来看，最近的许多突破极大地提高了我们对ASD的理解。这些研究突出了胎儿发育的时期以及染色质结构，突触功能和神经胶质信号传导的过程。系统地整合多水平基因组数据发现和小鼠模型研究的初步努力已经产生了有关ASD病理生理学的新线索。这项早期工作指出了这种复杂的病因在异质性疾病中疾病机制的趋同。