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自闭症发病机制:上丘

Autism Pathogenesis: The Superior Colliculus.

作者信息

Jure Rubin

机构信息

Centro Privado de Neurología y Neuropsicología Infanto Juvenil WERNICKE, Córdoba, Argentina.

出版信息

Front Neurosci. 2019 Jan 9;12:1029. doi: 10.3389/fnins.2018.01029. eCollection 2018.

DOI:10.3389/fnins.2018.01029
PMID:30686990
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6334746/
Abstract

After been exposed to the visual input, in the first year of life, the brain experiences subtle but massive changes apparently crucial for communicative/emotional and social human development. Its lack could be the explanation of the very high prevalence of autism in children with total congenital blindness. The present theory postulates that the superior colliculus is the key structure for such changes for several reasons: it dominates visual behavior during the first months of life; it is ready at birth for complex visual tasks; it has a significant influence on several hemispheric regions; it is the main brain hub that permanently integrates visual and non-visual, external and internal information (bottom-up and top-down respectively); and it owns the enigmatic ability to take non-conscious decisions about where to focus attention. It is also a sentinel that triggers the subcortical mechanisms which drive to follow faces from birth and to react automatically to emotional stimuli. Through indirect connections it also activates simultaneously several cortical structures necessary to develop and to accomplish the multiattentional task required for conscious social interaction in real life settings. Genetic or non-genetic prenatal or early postnatal factors could disrupt the SC functions resulting in autism. The timing of postnatal biological disruption matches the timing of clinical autism manifestations. Astonishing coincidences between etiologies, clinical manifestations, cognitive and pathogenic autism theories on one side and SC functions on the other are disclosed in this review. Although the visual system dependent of the SC is usually considered as accessory of the LGN canonical pathway, its imprinting gives the brain a qualitatively specific functions not supplied by any other brain structure.

摘要

在生命的第一年接触视觉输入后,大脑会经历细微但巨大的变化,这些变化显然对人类的交流/情感和社会发展至关重要。对于先天性全盲儿童中自闭症的高发病率,缺乏这种视觉输入可能是一种解释。目前的理论假定,上丘是产生这些变化的关键结构,原因如下:它在生命的最初几个月主导视觉行为;它在出生时就已准备好执行复杂的视觉任务;它对几个脑半球区域有重大影响;它是大脑的主要枢纽,永久整合视觉和非视觉、外部和内部信息(分别为自下而上和自上而下);并且它具有在无意识状态下决定注意力集中方向的神秘能力。它也是一个哨兵,触发皮层下机制,促使个体从出生起就注视人脸并对情感刺激自动做出反应。通过间接连接,它还同时激活了在现实生活场景中进行有意识的社交互动所需的多种注意力任务的发展和完成所必需的几个皮层结构。遗传或非遗传的产前或产后早期因素可能会破坏上丘的功能,导致自闭症。产后生物功能破坏的时间与临床自闭症表现的时间相匹配。本综述揭示了病因、临床表现、认知和致病性自闭症理论与上丘功能之间惊人的巧合。尽管依赖上丘的视觉系统通常被认为是外侧膝状体经典通路的附属部分,但其印记赋予大脑一些其他脑结构所不具备的定性特定功能。

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Shared behavioural impairments in visual perception and place avoidance across different autism models are driven by periaqueductal grey hypoexcitability in Setd5 haploinsufficient mice.在 SETD5 杂合不足小鼠中,导水管周围灰质的兴奋性降低导致不同自闭症模型中视觉感知和回避场所的共享行为障碍。
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The Use of CGH Arrays for Identifying Copy Number Variations in Children with Autism Spectrum Disorder.利用比较基因组杂交阵列鉴定自闭症谱系障碍儿童的拷贝数变异
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