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自闭症谱系障碍中突变基因与信号通路的相关性

Correlation of mutated gene and signalling pathways in ASD.

作者信息

Apte Madhavi, Kumar Aayush

机构信息

Quality Assurance and Pharmacognosy and Phytochemistry, SVKM's Dr. Bhanuben Nanavati College of Pharmacy, Vile Parle, 400056 Mumbai, India.

Quality Assurance, SVKM's Dr. Bhanuben Nanavati College of Pharmacy, Vile Parle, 400056 Mumbai, India.

出版信息

IBRO Neurosci Rep. 2023 Mar 27;14:384-392. doi: 10.1016/j.ibneur.2023.03.011. eCollection 2023 Jun.

Abstract

Autism is a complicated spectrum of neurodevelopmental illnesses characterized by repetitive and constrained behaviors and interests, as well as social interaction and communication difficulties that are first shown in infancy. More than 18 million Indians, according to the National Health Portal of India, and 1 in 160 children worldwide, according to the WHO, are diagnosed with autism spectrum disorders. This review aims to discuss the complex genetic architecture that underlies autism and summarizes the role of proteins likely to play in the development of autism. We also consider how genetic mutations can affect convergent signaling pathways and hinder the development of brain circuitry and the role of cognition development and theory of mind with Cognition-behavior therapy benefits in autism.

摘要

自闭症是一系列复杂的神经发育疾病,其特征为重复性和受限的行为及兴趣,以及在婴儿期就首次出现的社交互动和沟通困难。根据印度国家卫生门户网站的数据,超过1800万印度人患有自闭症,而根据世界卫生组织的数据,全球每160名儿童中就有1人被诊断患有自闭症谱系障碍。本综述旨在探讨自闭症背后复杂的遗传结构,并总结可能在自闭症发展中起作用的蛋白质的作用。我们还将考虑基因突变如何影响趋同信号通路并阻碍脑回路的发育,以及认知发展和心理理论在自闭症认知行为治疗中的作用。

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Correlation of mutated gene and signalling pathways in ASD.自闭症谱系障碍中突变基因与信号通路的相关性
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