将精准医学的力量转化为沟通障碍的世界。

IF 2.2
Beate Peter, Jennifer Davis, Laurel Bruce, Lizbeth Finestack, Miriam Kornelis, Linda Eng, Yookyung Kim, Nancy Scherer, Nancy Potter, Mark VanDam, Lauren Thompson, Susan Loveall, Carol Stoel-Gammon, Caitlin Raaz, Amy Armstrong-Heimsoth, Sue Buckley
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引用次数: 0

摘要

目的:精准医学是一种新兴的医学诊断、预后和干预方法,它将个体的遗传、环境和生活方式相关特征考虑在内,以改善糖尿病和癌症等医疗条件的预后。在这里,我们探讨如何在语言病理学领域利用精准医学的原理。方法:我们回顾了文献并报告了以下内容:(a)对精准医学的简要介绍,(b)对有言语/语言障碍遗传风险的婴儿的预防性干预的回顾,(c)利用内在表型对阅读障碍进行个性化干预的潜在方法,以及(d)确定了将精准医学更广泛地纳入交流科学和障碍领域的障碍和机会。结果:基于已知基因型-表型关联的预防性干预的一个已建立的例子是Babble Boot Camp (BBC),这是一种新颖的个性化和主动干预,旨在培养具有可预测遗传风险的婴儿的前体和早期沟通技能。我们描述了一项成功的BBC临床试验,用于有遗传风险的婴儿,因为经典的半乳糖血症和唐氏综合症婴儿的试点试验。个性化的一个实验例子是解决一些患有阅读障碍的个体共享的信息处理模式,即减少的感觉门控。结论:为了在口语和书面交流障碍中更广泛地实施精准医学原则,需要新的方法来识别幼儿的风险。随着越来越多的基因型表现型发现和基因疗法的出现,遗传学培训可以使临床医生认识到遗传疾病的迹象,做出适当的转诊,并制定个性化的治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Translating the Power of Precision Medicine Into the World of Communication Disorders.

Purpose: Precision medicine is an emerging approach to medical diagnostics, prognostics, and intervention that takes an individual's genetic, environmental, and lifestyle-related profile into account to improve outcomes in medical conditions such as diabetes and cancer. Here, we explore how principles of precision medicine can be leveraged in the field of speech-language pathology.

Method: We reviewed the literature and report the following: (a) brief introduction to precision medicine, (b) review of a prophylactic intervention for infants at a genetic risk for speech/language disorders, (c) potential approaches to leveraging endophenotypes for individualized interventions in dyslexia, and (d) identified barriers and opportunities for incorporating precision medicine more broadly into the field of communication sciences and disorders.

Results: An established example of a prophylactic intervention based on known genotype-phenotype associations is Babble Boot Camp (BBC), a novel personalized and proactive intervention designed to foster precursor and early communication skills of infants at a predictable genetic risk. We describe a successful clinical trial of BBC for infants at a genetic risk due to classic galactosemia and pilot trials for infants with Down syndrome. An experimental example of personalization is addressing the information processing mode shared by some individuals with dyslexia, namely, diminished sensory gating.

Conclusions: To implement principles of precision medicine in disorders of spoken and written communication more broadly, novel ways of identifying young children at risk are needed. As more genotype-phenotype discoveries and gene therapies come online, training in genetics can equip clinicians to recognize signs of a genetic disorder, make appropriate referrals, and personalize therapeutic approaches.

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