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一项关于鉴定和治疗遗传变异引起的智力障碍的十年进展回顾。

A 10-Year Review on Advancements in Identifying and Treating Intellectual Disability Caused by Genetic Variations.

机构信息

School of Exercise and Health, Shanghai University of Sport, 200 Hengren Road, Yangpu, Shanghai 200438, China.

出版信息

Genes (Basel). 2024 Aug 24;15(9):1118. doi: 10.3390/genes15091118.

Abstract

Intellectual disability (ID) is a prevalent neurodevelopmental disorder characterized by neurodevelopmental defects such as the congenital impairment of intellectual function and restricted adaptive behavior. However, genetic studies have been significantly hindered by the extreme clinical and genetic heterogeneity of the subjects under investigation. With the development of gene sequencing technologies, more genetic variations have been discovered, assisting efforts in ID identification and treatment. In this review, the physiological basis of gene variations in ID is systematically explained, the diagnosis and therapy of ID is comprehensively described, and the potential of genetic therapies and exercise therapy in the rehabilitation of individuals with intellectual disabilities are highlighted, offering new perspectives for treatment approaches.

摘要

智力残疾(ID)是一种常见的神经发育障碍,其特征是神经发育缺陷,如先天性智力功能障碍和受限的适应行为。然而,由于研究对象的临床和遗传异质性极大,遗传研究受到了严重阻碍。随着基因测序技术的发展,已经发现了更多的遗传变异,这有助于 ID 的识别和治疗。在这篇综述中,系统地解释了 ID 中基因变异的生理基础,全面描述了 ID 的诊断和治疗,强调了基因治疗和运动疗法在智力残疾个体康复中的潜力,为治疗方法提供了新的视角。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fabb/11431063/0b451ea95742/genes-15-01118-g001.jpg

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