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Genetic Testing and Autism: Tutorial for Communication Sciences and Disorders

机译:基因测试和自闭症:传播科学与疾病指南

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摘要

This tutorial provides professionals in communication sciences and disorders with an overview of the molecular basis and parental perceptions of genetic testing as associated with autism. The introduction notes the prominence of genetic testing within present-day medical practices and highlights related limitations and concerns through the lens of disability critique. The body of the tutorial provides an overview of four different forms of genetic variation, highlighting the potential associations with autism and available genetic testing. In sum, most autism cases cannot be associated directly with specified forms of genetic variation but are attributed instead to multiple genetic and environmental influences working in concert. Finally, the discussion focuses on parental perceptions of the genetic testing associated with autism, both the potential benefits and harms, and emphasizes the need to integrate first-person perspectives from autistic individuals.
机译:本教程为传播科学和障碍专业人士提供了与自闭症相关的分子基础和父母对基因测试的看法的概述。引言指出了基因检测在当今医学实践中的突出地位,并通过残疾评论的角度突出了相关的局限性和关注点。本教程的主体提供了四种不同形式的遗传变异的概述,重点介绍了与自闭症和可用遗传测试的潜在关联。总之,大多数自闭症病例不能直接与特定形式的遗传变异联系在一起,而应归因于多种遗传和环境影响。最后,讨论的重点是父母对与自闭症相关的基因测试的看法,包括潜在的利弊,并强调需要整合自闭症个体的第一人称视角。

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