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The putative etiology and prevention of autism.
Progress in Molecular Biology and Translational Science Pub Date : 2020-05-10 , DOI: 10.1016/bs.pmbts.2020.04.013
Gary Steinman 1
Affiliation  

Since the initial psychological report by Leo Kanner in 1943, relatively little formal biochemical/neurological research on the cause of autism, other than peripheral searches for genomic mutations, had been carried until the end of the 20th century. As a result of studies on twin sets and the conclusion that autism was largely a hereditary defect, numerous investigations have sought various genetic faults in particular. However, such studies were able to reveal a plausible etiology for this malady in only a small percentage of instances.

Key bio-molecular characteristics of this syndrome have been uncovered when the potential roles of the glia were studied in depth. Findings related to biochemical deficiencies appearing early in the newborn, such as depressed IGF-1 (insulin-like growth factor #1) in neurogenesis/myelination, are becoming emphasized in many laboratories. Progress leading to timely diagnoses and subsequent prevention of central nervous system dysconnectivity now seems plausible. The tendency for an infant to develop autism may currently be determinable and preventable before irreversible psychosocial disturbances become established.

These discussions about glial function will be inter-spersed with comments about their apparent relevance to autism. The concluding portion of this presentation will be a detailed review and summation of this diagnosis and prevention proposition.



中文翻译:

自闭症的假定病因和预防。

自 1943 年 Leo Kanner 首次发表心理学报告以来,直到 20 世纪末,除了对基因组突变的外围研究之外,对自闭症病因的正式生化/神经学研究相对较少。根据对双胞胎的研究以及自闭症很大程度上是一种遗传缺陷的结论,许多研究特别寻找各种遗传缺陷。然而,此类研究仅在一小部分情况下揭示了这种疾病的合理病因。

当深入研究神经胶质细胞的潜在作用时,已经揭示了这种综合征的关键生物分子特征。许多实验室正在强调与新生儿早期出现的生化缺陷相关的发现,例如神经发生/髓鞘形成中 IGF-1(胰岛素样生长因子 #1)的抑制。现在看来,在及时诊断和随后预防中枢神经系统连接障碍方面取得的进展似乎是合理的。目前,在不可逆转的社会心理障碍形成之前,婴儿患自闭症的倾向可能是可以确定和预防的。

这些关于神经胶质功能的讨论将穿插着关于它们与自闭症明显相关的评论。本演讲的结论部分将详细回顾和总结这一诊断和预防主张。

更新日期:2020-05-10
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