Article summary

Authors: Gry Velvin*, Taran Youssefian Blakstvedt*, Heidi Olsson, Marit Langøy, Christine Möller-Omrani, Sturle Svendal & Marit Erna Austeng 
(*shared first authorship) 

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

Published in: Disability and Rehabilitation, September 2025 

Summary of the article 

What did we find?

The study had two parts: a scoping review and a questionnaire survey among adults with Stickler syndrome. 

Scoping review: 
We found only five articles that mentioned pain as a symptom, and one of these studies had also measured quality of life more broadly in children. This highlights a clear knowledge gap. All included studies reported that many experienced pain, often from early childhood, particularly in the hips, knees, and back. Some reported that pain greatly affected career choice and daily life. However, we found almost no research on fatigue or mental health, which clearly indicates that these topics are underexplored in Stickler syndrome. 

Questionnaire survey: 

• About the participants: The study included 24 participants: 16 women and 8 men. Their ages ranged from 19 to 72 years, with a median age of 38.5 years. The median age at diagnosis was 34 years. All participants had visual impairments, most had hearing loss (83%), and nearly all reported skeletal problems (96%). 

• Pain: 92% reported pain lasting more than three months during the past year. Pain often started before the age of 20 (77%) and was most common in the neck (75%), knees (71%), and lower back (63%). Many experienced pain interference, meaning that pain hindered daily activities. 

• Daily functioning: The most affected areas of quality of life were pain interference (42%), fatigue (33%), and moderate levels of anxiety symptoms (29%). This suggests that several participants experienced significant challenges in daily life related to these issues. 

• Quality of life: Overall life satisfaction was lower than in the Norwegian general population. When asked about satisfaction with different aspects of life, few reported being satisfied with their physical health (17%), work (19%), and sexuality (30%). At the same time, satisfaction with partner relationships (65%) and family life (57%) was relatively high, indicating that many had strong social support. 

• Healthcare services: Most participants had regular follow-up with ophthalmologists (92%) and ENT specialists (83%), and had received genetic counseling (75%). However, few had received follow-up from physiotherapists, mental health services, or rehabilitation programs, despite extensive health problems. 

• Overall picture: Adults with Stickler syndrome live with complex and persistent health challenges. Many experience significant pain, fatigue, and psychological difficulties, while at the same time demonstrating a high degree of adaptability through education, work, and family life. 

How did we find this out? 

The study combined a scoping review of existing research with a questionnaire survey of adults with confirmed Stickler syndrome. 

• Scoping review: We systematically reviewed all available research on quality of life in Stickler syndrome published up to January 2025. 

• The questionnaire: was distributed to adult participants attending a course organized by the Norwegian Centre for Rare Diseases in 2023. The questionnaire included both questions on health problems and several standardized measurement tools: 

• PROMIS-57 (measures anxiety symptoms, depressive symptoms, fatigue, pain, physical function, social participation, and sleep disturbances) 

• Satisfaction with Life Scale (SWLS) (measures overall life satisfaction) 

• Life Satisfaction Questionnaire 11 (LiSat-11) (measures satisfaction with different areas of life) 

• Standardized pain assessment (duration and location of pain). 

What have we learned? 

This study shows that many adults with Stickler syndrome have long-term pain, health problems that start early in life, and significant challenges with fatigue and mental health. These factors contribute to reduced quality of life. At the same time, many participants had jobs, education, partners, and children. 

There is a great need for more research on quality of life in Stickler syndrome, particularly regarding fatigue and psychosocial aspects, as well as for comprehensive healthcare services that include pain management, mental health support, and rehabilitation.