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关于自闭症谱系障碍当前认知的简短综述

A Short Review on the Current Understanding of Autism Spectrum Disorders.

作者信息

Park Hye Ran, Lee Jae Meen, Moon Hyo Eun, Lee Dong Soo, Kim Bung-Nyun, Kim Jinhyun, Kim Dong Gyu, Paek Sun Ha

机构信息

Department of Neurosurgery, Seoul National University Hospital, Seoul 03080, Korea.

Department of Nuclear Medicine, Seoul National University College of Medicine, Seoul 03080, Korea.

出版信息

Exp Neurobiol. 2016 Feb;25(1):1-13. doi: 10.5607/en.2016.25.1.1. Epub 2016 Jan 28.

Abstract

Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders characterized by a deficit in social behaviors and nonverbal interactions such as reduced eye contact, facial expression, and body gestures in the first 3 years of life. It is not a single disorder, and it is broadly considered to be a multi-factorial disorder resulting from genetic and non-genetic risk factors and their interaction. Genetic studies of ASD have identified mutations that interfere with typical neurodevelopment in utero through childhood. These complexes of genes have been involved in synaptogenesis and axon motility. Recent developments in neuroimaging studies have provided many important insights into the pathological changes that occur in the brain of patients with ASD in vivo. Especially, the role of amygdala, a major component of the limbic system and the affective loop of the cortico-striatothalamo-cortical circuit, in cognition and ASD has been proved in numerous neuropathological and neuroimaging studies. Besides the amygdala, the nucleus accumbens is also considered as the key structure which is related with the social reward response in ASD. Although educational and behavioral treatments have been the mainstay of the management of ASD, pharmacological and interventional treatments have also shown some benefit in subjects with ASD. Also, there have been reports about few patients who experienced improvement after deep brain stimulation, one of the interventional treatments. The key architecture of ASD development which could be a target for treatment is still an uncharted territory. Further work is needed to broaden the horizons on the understanding of ASD.

摘要

自闭症谱系障碍(ASD)是一组神经发育障碍,其特征是社交行为和非语言互动存在缺陷,例如在生命的头3年中眼神交流减少、面部表情和身体姿势异常。它不是单一的疾病,而是广泛被认为是由遗传和非遗传风险因素及其相互作用导致的多因素疾病。对ASD的遗传学研究已经确定了在子宫内直至儿童期干扰典型神经发育的突变。这些基因复合体参与了突触形成和轴突运动。神经影像学研究的最新进展为ASD患者大脑中发生的体内病理变化提供了许多重要见解。特别是,杏仁核作为边缘系统的主要组成部分以及皮质-纹状体-丘脑-皮质回路情感环路的一部分,在认知和ASD中的作用已在众多神经病理学和神经影像学研究中得到证实。除了杏仁核,伏隔核也被认为是与ASD社交奖励反应相关的关键结构。尽管教育和行为治疗一直是ASD管理的主要手段,但药物和介入治疗在ASD患者中也显示出了一些益处。此外,也有报道称少数患者在接受介入治疗之一的深部脑刺激后病情有所改善。ASD发展的关键结构可能是治疗的靶点,这仍然是一个未知领域。需要进一步开展工作以拓宽对ASD的理解。

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