Psychosocial aspects of adults with Stickler syndrome; A cross sectional study of quality of life, social aspects, physical functioning and activities in daily life.

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Project leader

Gry Velvin, Senioradviser (MSW, cand.polit. Ph.D). TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital.

Background

Stickler syndrome is a hereditary connective tissue disease, with a high rate of ocular complications, and increased risk of retinal detachment and blindness. Systemic findings are also common, with craniofacial, skeletal and auditory systems often involved. The estimated prevalence of Stickler syndrome is 1:10,000. After conducting systematic searches in pertinent databases, only a few studies were identified dealing with psychosocial aspects and physical function in people with Stickler syndrome. Indicating a large knowledge gap on these issues of the diagnosis, particularly in adults with Stickler syndrome.

The purpose

The purpose of this project is to investigate the patients’ experiences and perception on how the health problems of Stickler syndrome may impact; psychosocial and physical function, and quality of life. More research on the challenges people with Stickler syndrome experience may be important for the patients, their relatives, healthcare- and social services, and the international research society.

Methods and materials

The study will consists of three sub-studies

Sub study 1: Systematic review of pertinent research on psychosocial aspects, chronic pain and fatigue in patients with Stickler syndrome
Sub-study 2: Focus group interview of adults with verified Stickler syndrome. The main topic are: i) physical activity in daily life, ii) psychosocial aspect and quality of life when living with Stickler syndrome.
Sub-study 3: Quantitative questionnaire survey: Participants will be asked to fill out a study-specific questionnaire that covers demographic information, specific health complaints related to the diagnosis, physical activity, as well as validated questionnaires for quality of life, psychological factors, chronic pain, and fatigue.

Recruitment

Adults patients with verified Stickler diagnosis participating on a course at Frambu Centre week 48, 2023 for families with Stickler syndrome, will be invited to participate in focus group interviews (sub-study 2) and the questionnaire study (sub-study 3). Participation in the study is voluntary and have no influence on their course attendance.

Collaboration and implementation of the study

Collaboration with the patient association is planned, and a reference group (two or three adults with Stickler syndrome) will be established to ensure the quality of the study. External collaboration is established with OsloMet.

Gry Velvin (Ph.D), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Taran Youssefian Blakstvedt (psychologist), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Heidi Olsson (physiotherapist, MSc-student), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Gunnbjørg Karin Aune (occupational therapist, MSc), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Anne Mette Bredahl (psychologist, Ph.D), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Trond Haagensen (MSW), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Jan Erik Wilhelmsen (special teacher in physical education/Cand. scient), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Livø Kari Nyhus (special pedagogic, MSc), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Elisabeth Fagereng (psychologist), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Kristina Eraker Bøhn (adminstration consultant), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Thea Vigen (MD, Ph.D), TRS National Resource Centre for Rare Diseases, Sunnaas Rehabilitation Hospital.

Amy Østertun Geidal (professor I, Ph.D.), Department of Social Work, Child Welfare and Social Policy, Faculty of Social Science, Oslo Metropolitan University, Norway.

Ethical approvals

The application has been sent and is under assessment by REK.

Funding

Time period

The study is scheduled to commence in October 2023 and will be finalized by 31.12.33.