{"title":"On Terms: What's in a Name? Intellectual Disability and \"Condition,\" \"Disorder,\" \"Syndrome,\" \"Disease,\" and \"Disability\".","authors":"Audrey Thurm, Siddharth Srivastava","doi":"10.1352/1944-7558-127.5.349","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":1,"journal":{"name":"Accounts of Chemical Research","volume":null,"pages":null},"PeriodicalIF":16.4000,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Accounts of Chemical Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1352/1944-7558-127.5.349","RegionNum":1,"RegionCategory":"化学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CHEMISTRY, MULTIDISCIPLINARY","Score":null,"Total":0}
引用次数: 3
Abstract
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.
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.