The importance of genetics in an advanced integrative model of autism spectrum disorder

Andrés Ciolino, M. Ferreira, Nicolás Loyacono
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Abstract

Genes have long been considered to cause autism spectrum disorder (ASD). However, data obtained over the last 10 years indicate that the true role of genetics in ASD and the cost-benefit ratio of genetic testing following an ASD diagnosis warrant further investigation. ASD is heterogeneous with high individual complexity, and new findings related to systemic alterations in ASD (in addition to genetics) should be considered when attempting to optimize patient health. However, for some people with ASD and their families, genetic testing can identify genetic mutations or chromosomic alterations. This review mainly considers recent research (the last 5 years) on the role of genetic factors in ASD and the importance of genetic testing in a new Advanced Integrative Model of ASD.
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遗传学在自闭症谱系障碍高级综合模型中的重要性
基因一直被认为是导致自闭症谱系障碍(ASD)的原因。然而,过去10年获得的数据表明,遗传学在ASD中的真正作用以及ASD诊断后基因检测的成本效益比值得进一步研究。ASD是异质性的,具有高度的个体复杂性,在试图优化患者健康时,应考虑与ASD系统性改变相关的新发现(除了遗传学)。然而,对于一些自闭症患者和他们的家庭来说,基因检测可以识别基因突变或染色体改变。本文主要综述了近5年来遗传因素在ASD中的作用以及基因检测在ASD高级综合模型中的重要性。
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