Brigham and Women's Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, University of Manchester, Manchester, UK.
University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Ann Hum Genet. 2022 Jan;86(1):45-51. doi: 10.1111/ahg.12447. Epub 2021 Sep 28.
The PhenX Toolkit (https://www.phenxtoolkit.org/) is an online catalog of recommended measurement protocols to facilitate cross-study analyses for biomedical research. An expert review panel (ERP) reviewed and updated the PhenX Toolkit Speech and Hearing domain to improve the precision and consistency of speech, language, and hearing disorder phenotypes. A three-member ERP convened in August 2018 to review the measurement protocols in the PhenX Speech and Hearing domain. Aided by three additional experts in voice assessment, vertigo, and stuttering, the ERP updated the 28 protocols to reflect the latest science and technology. ERP recommendations include six new protocols, five updated protocols (from the same source), and one retired protocol. New additions include two voice-related, three hearing-related, and two speech-related protocols. Additions reflect new phone/tablet applications for hearing and language, and clinical evaluations of voice. "Language" was added to the domain name, which is now "Speech, Language, and Hearing," to represent language-related protocols. These protocols can facilitate the assessment of speech, language, and hearing in clinical and population research. Common data elements (i.e., use of the same variables across studies) used by geneticists, otolaryngologists, audiologists, speech-language pathologists, and in other disciplines can lead to cross-study data integration and increased statistical power when studies are combined.
PhenX 工具包(https://www.phenxtoolkit.org/)是一个在线目录,其中包含推荐的测量协议,以促进生物医学研究的跨研究分析。一个专家审查小组(ERP)审查并更新了 PhenX 工具包的言语和听力领域,以提高言语、语言和听力障碍表型的准确性和一致性。一个由三名成员组成的 ERP 于 2018 年 8 月召开会议,审查 PhenX 言语和听力领域的测量协议。在三位语音评估、眩晕和口吃方面的额外专家的协助下,ERP 更新了 28 项协议,以反映最新的科学和技术。ERP 的建议包括六项新协议、五项更新协议(来自同一来源)和一项退休协议。新增加的内容包括两个与语音相关的、三个与听力相关的和两个与言语相关的协议。新增内容反映了听力和语言方面的新电话/平板电脑应用程序,以及语音的临床评估。“语言”被添加到域名中,现在的域名是“言语、语言和听力”,以代表与语言相关的协议。这些协议可以促进临床和人群研究中言语、语言和听力的评估。遗传学家、耳鼻喉科医生、听力学家、言语语言病理学家以及其他学科使用的通用数据元素(即,在研究中使用相同的变量)可以实现跨研究的数据集成,并在研究结合时增加统计能力。