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