Autism spectrum disorders (ASD) comprise a group of heterogeneous neurodevelopmental conditions characterized by impaired social interactions and repetitive behaviors with symptom onset in early infancy. The genetic risks for ASD have long been appreciated: concordance of ASD diagnosis may be as high as 90% for monozygotic twins and 30% for dizygotic twins, and hundreds of mutations in single genes have been associated with ASD. Nevertheless, only 5–30% of ASD cases can be explained by a known genetic cause, suggesting that genetics is not the only factor at play. More recently, several studies reported that up to 40% of infants with cerebellar hemorrhages and lesions are diagnosed with ASD. These hemorrhages are overrepresented in severely premature infants, who are born during a period of highly dynamic cerebellar development that encompasses an approximately 5-fold size expansion, an increase in structural complexity, and remarkable rearrangements of local neural circuits. The incidence of ASD-causing cerebellar hemorrhages during this window supports the hypothesis that abnormal cerebellar development may be a primary risk factor for ASD. However, the links between developmental deficits in the cerebellum and the neurological dysfunctions underlying ASD are not completely understood. Here, we discuss key processes in cerebellar development, what happens to the cerebellar circuit when development is interrupted, and how impaired cerebellar function leads to social and cognitive impairments. We explore a central question: Is cerebellar development important for the generation of the social and cognitive brain or is the cerebellum part of the social and cognitive brain itself?
Dev Neurosci

中文翻译：

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自闭症谱系障碍的小脑发育异常


自闭症谱系障碍 (ASD) 包括一组异质性神经发育疾病，其特征是社交互动受损和重复行为，症状在婴儿早期出现。自闭症谱系障碍（ASD）的遗传风险早已被人们认识到：同卵双胞胎的自闭症谱系障碍诊断一致性可能高达 90%，异卵双胞胎则高达 30%，并且数百个单基因突变与自闭症谱系障碍相关。然而，只有 5-30% 的自闭症谱系障碍病例可以用已知的遗传原因来解释，这表明遗传并不是唯一起作用的因素。最近，多项研究报告称，高达 40% 的患有小脑出血和病变的婴儿被诊断为自闭症谱系障碍 (ASD)。这些出血在严重早产儿中尤为常见，这些婴儿出生在小脑高度动态发育的时期，该时期包括大约 5 倍的尺寸扩张、结构复杂性的增加以及局部神经回路的显着重新排列。在此窗口期间，自闭症谱系障碍（ASD）引起的小脑出血的发生率支持了以下假设：小脑发育异常可能是自闭症谱系障碍（ASD）的主要危险因素。然而，小脑发育缺陷与自闭症谱系障碍背后的神经功能障碍之间的联系尚不完全清楚。在这里，我们讨论小脑发育的关键过程、发育中断时小脑回路会发生什么，以及小脑功能受损如何导致社交和认知障碍。我们探讨一个核心问题：小脑发育对于社交和认知大脑的生成重要吗？还是小脑是社交和认知大脑本身的一部分？
 开发神经科学