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Open Access Article

Advances in International Psychology. 2022; 4: (2) ; 1-5 ; DOI: 10.12208/j.aip.20220013.

Recent progress on molecular mechanism of DeSanto-Shinawi syndrome
DeSanto-Shinawi综合征研究进展

作者: 曹绪, 熊博 *

华中科技大学同济医学院法医学系 湖北武汉

*通讯作者: 熊博,单位:华中科技大学同济医学院法医学系 湖北武汉;

发布时间: 2022-12-30 总浏览量: 75

摘要

儿童心理行为异常,包括学习障碍,注意力缺陷,多动症,智力发育障碍,语言功能发育迟缓,孤独症等,严重影响儿童的发育及社会适应能力,是重要的医学及社会问题。而神经系统发育异常,尤其是脑结构及功能的异常是儿童心理异常的一个重要诱因。DeSanto-Shinawi综合征是由WAC单倍体剂量不足引起的一组神经系统发育障碍类疾病。本文综述了已报道的DeSanto-Shinawi综合征的临床表型、WAC基因的结构与生物学功能。通过总结已有的关于DeSanto-Shinawi综合征分子机制的研究,指出了未来研究WAC基因对神经系统发育及儿童心理异常相关作用的两个方向,并强调了深入探索神经通路激活对细胞自噬调控方式的影响以及关注WAC基因敲除后视力障碍的重要性。随着这一研究的深入,必将为人类采取综合性措施预防和最终解决儿童心理疾患和行为异常类疾病产生深刻影响。

关键词: 儿童心理行为异常;DeSanto-Shinawi综合征;神经发育;WAC基因;自噬;视力障碍

Abstract

The abnormal development of nervous system can lead to the abnormality of brain structure, function and psychological behavior of children, affecting the development of children's mental intelligence. Heredity is a necessary material prerequisite for individual psychological development. DeSanto-Shinawi syndrome is a kind of neurodevelopmental disorder caused by an insufficient of WAC haploid. This article reviews the reported clinical phenotypes of DeSanto-Shinawi syndrome, structure and biological functions of WAC Gene. By summarizing the existing studies on the molecular mechanism of DeSanto-Shinawi syndrome, two directions for future research on the role of WAC gene in nervous system development are pointed out. The article emphasizes the importance of deeply exploring the influence of neural pathway activation on autophagy regulation, and proposes that visual impairment is a noteworthy phenotype in patients with WAC gene deletion. With the deepening of this research, it is bound to have a profound impact on the prevention and eventual resolution of psychological diseases and behavioral disorders in children through a comprehensive approach.

Key words: Psychological and behavioral disorders in children; DeSanto-Shinawi syndrome; WAC gene; Autophagy; Visual impairment

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引用本文

曹绪, 熊博, DeSanto-Shinawi综合征研究进展[J]. 国际心理学进展, 2022; 4: (2) : 1-5.