术语:名字里有什么?智力残疾和“状况”、“紊乱”、“综合症”、“疾病”和“残疾”。

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY
Audrey Thurm, Siddharth Srivastava
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引用次数: 3

摘要

患有智力残疾的人可能同时患有多种疾病,包括相关的遗传诊断。与ID相关的遗传病因的数量正在增长,其中一些是相当新的和罕见的,而另一些则更常见,通常被认为是一种综合症。在遗传病因和相关的医学合并症的背景下,适当使用描述性术语值得澄清。使用准确的命名法对描述至关重要,特别是当术语在研究和临床报告中使用时。这里我们讨论几个可能相互混淆的术语,包括“条件”、“紊乱”、“综合症”、“疾病”和“残疾”。我们的目标是阐明五个描述符的含义及其在ID人群中的适当使用,特别是与那些有遗传诊断的人有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability".

Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies and associated medical comorbidities, appropriate use of descriptive terminology warrants clarification. Using accurate nomenclature is essential for descriptions, especially as terms are used across both research and clinical reports. Here we discuss several terms that may be confused with each other, including "condition," "disorder," "syndrome," "disease," and "disability." Our goal is to shed light on the meanings of the five descriptors and their appropriate use in the ID population, especially in relation to those who have a genetic diagnosis.

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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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