Psychosocial aspects, chronic pain, fatigue and quality of life in individuals with Stickler syndrome: a scoping review and a cross-sectional questionnaire study

Stickler syndrome is a rare, hereditary connective tissue disorder characterized by visual, auditory, and musculoskeletal complications. Research on quality of life remains limited. This study aimed to: (i) explore existing literature on psychosocial aspects, pain, fatigue, and quality of life in individuals with Stickler syndrome, (ii) describe the impact of health complaints on daily living, contacts with healthcare- and social service systems and quality of life in a cohort of adults with Stickler syndrome. A combination of a systematic scoping review and a cross-sectional questionnaire study was utilized. The questionnaire included questions on demographics and health complaints, and several validated instruments: PROMIS-57, Satisfaction with Life Scale and LiSat-11. Only patients with a verified diagnosis were included. Of 43 articles read, five studies were included. Four addressed pain and one examined quality of life in children. Chronic pain was a prevalent finding, impacting daily functioning and quality of life. In the questionnaire (<i>n</i> = 24), 92% reported chronic pain, along with fatigue, anxiety symptoms, and reduced quality of life. Still, participants reported education, employment, and family life. Individuals with Stickler syndrome experience health challenges affecting various aspects of life. Further studies are needed to develop evidence-based practice for this group. Long-lasting pain, fatigue, and symptoms of anxiety were commonly reported by individuals with Stickler syndrome in this survey, suggesting an impact on daily life and quality of life.Rehabilitation professionals may consider systematic approaches to pain management to support participation in daily activitiesAddressing both physical symptoms such as fatigue and psychological concerns like symptoms of anxiety could help enhance overall well-beingAn interdisciplinary approach may be beneficial to meet the varied needs reported by this population Long-lasting pain, fatigue, and symptoms of anxiety were commonly reported by individuals with Stickler syndrome in this survey, suggesting an impact on daily life and quality of life. Rehabilitation professionals may consider systematic approaches to pain management to support participation in daily activities Addressing both physical symptoms such as fatigue and psychological concerns like symptoms of anxiety could help enhance overall well-being An interdisciplinary approach may be beneficial to meet the varied needs reported by this population

斯提克勒综合征（Stickler syndrome）是一种罕见的遗传性结缔组织疾病，以视觉、听觉及肌肉骨骼系统并发症为典型特征，目前针对该人群生活质量的相关研究仍较为匮乏。本研究旨在达成两大目标：其一，系统梳理现有关于斯提克勒综合征患者心理社会维度、疼痛、疲劳及生活质量的相关文献；其二，针对成人斯提克勒综合征患者队列，阐明健康主诉对日常生活、医疗与社会服务系统接触情况以及生活质量的影响。本研究采用系统范围综述（systematic scoping review）与横断面问卷调查研究相结合的设计方案。问卷内容涵盖人口统计学信息与健康主诉，并采用了三款经过验证的评估工具：PROMIS-57、生活满意度量表（Satisfaction with Life Scale）以及LiSat-11。本研究仅纳入经确诊的患者。在审阅的43篇文献中，最终纳入5项研究，其中4项聚焦儿童患者的疼痛情况，1项探讨了儿童患者的生活质量。研究显示慢性疼痛较为普遍，会对日常功能与生活质量造成显著负面影响。在本次问卷调查（样本量n=24）中，92%的受访者报告存在慢性疼痛，同时伴随疲劳、焦虑症状及生活质量下降。尽管面临诸多健康挑战，受访者仍能正常参与教育、就业及家庭生活。斯提克勒综合征患者的健康问题会对生活的多个维度造成影响，亟需开展进一步研究以制定针对该人群的循证实践方案。长期疼痛、疲劳及焦虑症状在本次调查的斯提克勒综合征患者中普遍存在，提示上述症状会对日常生活与生活质量产生负面影响。康复专业人员可考虑采用系统化的疼痛管理方案，以助力患者参与日常活动。兼顾疲劳等躯体症状与焦虑等心理问题的干预，有助于提升患者的整体健康水平。采用多学科协作的干预模式，或可更好地满足该人群所报告的多样化健康需求。长期疼痛、疲劳及焦虑症状在本次调查的斯提克勒综合征患者中普遍存在，提示上述症状会对日常生活与生活质量产生负面影响。康复专业人员可考虑采用系统化的疼痛管理方案，以助力患者参与日常活动。兼顾疲劳等躯体症状与焦虑等心理问题的干预，有助于提升患者的整体健康水平。采用多学科协作的干预模式，或可更好地满足该人群所报告的多样化健康需求。