{"title":"消除 22q11 缺失综合征患者的声音：范围界定审查","authors":"Sophie Ayoub, Bernice S. Elger, Eva De Clercq","doi":"10.1016/j.rare.2024.100033","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans characterized by widely variable clinical manifestations. The resulting health challenges impact the well-being and quality of life of the affected individuals and their families. Although the opinion of formal and informal caregivers is of high importance, little literature discusses the perspective of the affected individuals themselves on what it means to live with a chronic condition like 22q11DS. The objective of this scoping review is to give a holistic view of the lived experiences of people diagnosed with 22q11DS by critically synthesizing the existing empirical literature on the topic.</p></div><div><h3>Methods</h3><p>We systematically searched six databases: PubMed, Embase, Scopus, CINAHL, Web of Science and Psychinfo and used Google Scholar to cover also grey literature. We included only empirical studies regardless of the methodology used and we followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR).</p></div><div><h3>Results</h3><p>This scoping review resulted in the analysis of 11 papers. Children, adolescents and older adults with 22q11DS were less represented in the retrieved studies compared to young adults. Two themes and various subthemes were identified. Regarding daily life challenges, supported independence is a subject commonly explored, but also the desire to be with others and knowledge around 22q11DS were widely discussed. Additionally, in this review, family support, societal care and professional healthcare services touch upon the social support and healthcare services. Multidisciplinary and transitional care were considered essential but lacking among medical institutions.</p></div><div><h3>Conclusions</h3><p>Further and more inclusive studies of individuals with 22q11DS are required to aid formal and informal caregivers in providing a more patient-centered support and thus to improve the overall well-being of people living with 22q11DS.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100033"},"PeriodicalIF":0.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000164/pdfft?md5=d87c98a163370378594f9cfcf70adf01&pid=1-s2.0-S2950008724000164-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Undeleting the voice of people with 22q11 deletion syndrome: A scoping review\",\"authors\":\"Sophie Ayoub, Bernice S. Elger, Eva De Clercq\",\"doi\":\"10.1016/j.rare.2024.100033\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans characterized by widely variable clinical manifestations. The resulting health challenges impact the well-being and quality of life of the affected individuals and their families. Although the opinion of formal and informal caregivers is of high importance, little literature discusses the perspective of the affected individuals themselves on what it means to live with a chronic condition like 22q11DS. The objective of this scoping review is to give a holistic view of the lived experiences of people diagnosed with 22q11DS by critically synthesizing the existing empirical literature on the topic.</p></div><div><h3>Methods</h3><p>We systematically searched six databases: PubMed, Embase, Scopus, CINAHL, Web of Science and Psychinfo and used Google Scholar to cover also grey literature. We included only empirical studies regardless of the methodology used and we followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR).</p></div><div><h3>Results</h3><p>This scoping review resulted in the analysis of 11 papers. Children, adolescents and older adults with 22q11DS were less represented in the retrieved studies compared to young adults. Two themes and various subthemes were identified. Regarding daily life challenges, supported independence is a subject commonly explored, but also the desire to be with others and knowledge around 22q11DS were widely discussed. Additionally, in this review, family support, societal care and professional healthcare services touch upon the social support and healthcare services. Multidisciplinary and transitional care were considered essential but lacking among medical institutions.</p></div><div><h3>Conclusions</h3><p>Further and more inclusive studies of individuals with 22q11DS are required to aid formal and informal caregivers in providing a more patient-centered support and thus to improve the overall well-being of people living with 22q11DS.</p></div>\",\"PeriodicalId\":101058,\"journal\":{\"name\":\"Rare\",\"volume\":\"2 \",\"pages\":\"Article 100033\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2950008724000164/pdfft?md5=d87c98a163370378594f9cfcf70adf01&pid=1-s2.0-S2950008724000164-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Rare\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2950008724000164\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Rare","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2950008724000164","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
背景22q11缺失综合征（22q11DS）是人类最常见的微缺失综合征，临床表现千差万别。由此带来的健康挑战影响着患者及其家人的福祉和生活质量。虽然正式和非正式照顾者的意见非常重要，但很少有文献从患者自身的角度来讨论与 22q11DS 这样的慢性疾病共同生活意味着什么。本范围综述的目的是通过批判性地综合现有的相关实证文献，对被诊断患有 22q11DS 的患者的生活经历进行全面的审视：我们系统地检索了六个数据库：PubMed、Embase、Scopus、CINAHL、Web of Science 和 Psychinfo，并使用谷歌学术搜索灰色文献。我们只收录了实证研究，无论其使用的方法如何，并遵循了《系统综述和元分析首选报告项目》（Preferred Reporting Items for Systematic Review and Meta-Analyses extension for Scoping Reviews，PRISMA-ScR）。在检索到的研究中，患有 22q11DS 的儿童、青少年和老年人的比例低于年轻人。确定了两个主题和多个次主题。关于日常生活中的挑战，支持独立是一个普遍探讨的主题，但与他人在一起的愿望和有关 22q11DS 的知识也被广泛讨论。此外，在本综述中，家庭支持、社会关怀和专业医疗服务也涉及到社会支持和医疗服务。结论需要对 22q11DS 患者进行更多和更具包容性的研究，以帮助正规和非正规护理人员提供更加以患者为中心的支持，从而改善 22q11DS 患者的整体福祉。
Undeleting the voice of people with 22q11 deletion syndrome: A scoping review
Background
22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans characterized by widely variable clinical manifestations. The resulting health challenges impact the well-being and quality of life of the affected individuals and their families. Although the opinion of formal and informal caregivers is of high importance, little literature discusses the perspective of the affected individuals themselves on what it means to live with a chronic condition like 22q11DS. The objective of this scoping review is to give a holistic view of the lived experiences of people diagnosed with 22q11DS by critically synthesizing the existing empirical literature on the topic.
Methods
We systematically searched six databases: PubMed, Embase, Scopus, CINAHL, Web of Science and Psychinfo and used Google Scholar to cover also grey literature. We included only empirical studies regardless of the methodology used and we followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR).
Results
This scoping review resulted in the analysis of 11 papers. Children, adolescents and older adults with 22q11DS were less represented in the retrieved studies compared to young adults. Two themes and various subthemes were identified. Regarding daily life challenges, supported independence is a subject commonly explored, but also the desire to be with others and knowledge around 22q11DS were widely discussed. Additionally, in this review, family support, societal care and professional healthcare services touch upon the social support and healthcare services. Multidisciplinary and transitional care were considered essential but lacking among medical institutions.
Conclusions
Further and more inclusive studies of individuals with 22q11DS are required to aid formal and informal caregivers in providing a more patient-centered support and thus to improve the overall well-being of people living with 22q11DS.
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