Abstract：
BACKGROUND: In this review we sought to characterize the lived experience of people living with FSHD (pwFSHD) to help clinicians to orient their services to the needs of these individuals.
METHODS: Five electronic databases were systematically searched for qualitative research studies containing quotations from pwFSHD. ENhancing Transparency in REporting the Synthesis of Qualitative research and Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines informed the methodology. Study quality was assessed using the Critical Appraisal Skills Programme Checklist tool, which measures the methodological quality of qualitative research. Data extracted from included studies were analyzed using thematic synthesis.
RESULTS: Ninety-nine pwFSHD took part in the six studies included in this review - from research teams based in two countries. Five descriptive themes emerged: \"Engaging with life as symptoms progress\"; \"The emotional journey\"; \"A family burden to bear\"; \"Social connection and disconnection\"; and \"Tension between visibility and invisibility.\" From these, two analytical themes were derived: \"The emotional challenge of continuing and intensifying adaptation\" and \"The relational burden of rare disease.\"
CONCLUSIONS: The lived experience of pwFSHD is characterized by physical, emotional, and social challenges that impact on engagement with life, particularly as symptoms progress. Further research is needed to provide a fuller understanding of the experience of pain in FSHD and of the lived experience of FSHD across cultures.
METHODS: Five electronic databases were systematically searched for qualitative research studies containing quotations from pwFSHD. ENhancing Transparency in REporting the Synthesis of Qualitative research and Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines informed the methodology. Study quality was assessed using the Critical Appraisal Skills Programme Checklist tool, which measures the methodological quality of qualitative research. Data extracted from included studies were analyzed using thematic synthesis.
RESULTS: Ninety-nine pwFSHD took part in the six studies included in this review - from research teams based in two countries. Five descriptive themes emerged: \"Engaging with life as symptoms progress\"; \"The emotional journey\"; \"A family burden to bear\"; \"Social connection and disconnection\"; and \"Tension between visibility and invisibility.\" From these, two analytical themes were derived: \"The emotional challenge of continuing and intensifying adaptation\" and \"The relational burden of rare disease.\"
CONCLUSIONS: The lived experience of pwFSHD is characterized by physical, emotional, and social challenges that impact on engagement with life, particularly as symptoms progress. Further research is needed to provide a fuller understanding of the experience of pain in FSHD and of the lived experience of FSHD across cultures.
摘要：
背景：在这篇综述中，我们试图描述患有FSHD（pwFSHD）的人的生活经历，以帮助临床医生将他们的服务定位为这些人的需求。
方法：系统地搜索了五个电子数据库，以获取包含pwFSHD引文的定性研究。提高系统审查和荟萃分析指南的定性研究和首选报告项目综合报告的透明度。使用关键评估技能计划清单工具评估研究质量，衡量定性研究的方法论质量。从纳入研究中提取的数据使用主题综合进行分析。
结果：九十九项pwFSHD参与了本综述中包含的六项研究——来自两个国家的研究团队。出现了五个描述性主题：“随着症状的发展而参与生活”；“情感之旅”；“要承担的家庭负担”；“社会联系与脱节”；和“可见性与隐形性之间的紧张关系”。“从这些，得出两个分析主题：“持续和强化适应的情感挑战”和“罕见疾病的关系负担”。\"
结论：pwFSHD的生活经历的特征是身体，情感,以及影响生活的社会挑战，特别是随着症状的进展。需要进一步的研究来更全面地了解FSHD的疼痛经历和FSHD跨文化的生活经历。
方法：系统地搜索了五个电子数据库，以获取包含pwFSHD引文的定性研究。提高系统审查和荟萃分析指南的定性研究和首选报告项目综合报告的透明度。使用关键评估技能计划清单工具评估研究质量，衡量定性研究的方法论质量。从纳入研究中提取的数据使用主题综合进行分析。
结果：九十九项pwFSHD参与了本综述中包含的六项研究——来自两个国家的研究团队。出现了五个描述性主题：“随着症状的发展而参与生活”；“情感之旅”；“要承担的家庭负担”；“社会联系与脱节”；和“可见性与隐形性之间的紧张关系”。“从这些，得出两个分析主题：“持续和强化适应的情感挑战”和“罕见疾病的关系负担”。\"
结论：pwFSHD的生活经历的特征是身体，情感,以及影响生活的社会挑战，特别是随着症状的进展。需要进一步的研究来更全面地了解FSHD的疼痛经历和FSHD跨文化的生活经历。
