Patient reported outcomes in Usher Syndrome: a systematic review

Area of Science:

• Ophthalmology
• Genetics
• Audiology
• Rehabilitation

Background:

• Usher Syndrome (USH) is a primary cause of deaf-blindness, significantly impacting patients' quality of life.
• Currently, no cure exists for USH, necessitating a focus on managing functional impairments and emotional well-being.

Purpose of the Study:

• To systematically review patient-reported outcomes (PROs) in Usher Syndrome research.
• To identify common PRO measures and assess their application in understanding the patient experience with USH.

Main Methods:

• A systematic literature search was performed across six major databases (MEDLINE, Embase, PsychInfo, CINHAL, Web of Science, Cochrane Library) up to September 4, 2024.
• Studies reporting on PROs in individuals with Usher Syndrome were included, with analysis of quantitative and qualitative data.

Main Results:

• 27 studies involving 1,009 participants were analyzed, with most participants having USH type 2.
• The Glasgow Benefit Inventory (GBI) was the most frequently used PRO measure, indicating moderate benefits but highlighting persistent physical limitations.
• The Usher Lifestyle Survey (ULS) revealed needs for assistive equipment for information access and mobility, with a significant lack of vision-specific PRO measures and interventions.

Conclusions:

• Patient-reported outcome data for Usher Syndrome is currently limited, emphasizing the need for standardized measurement tools.
• There is a critical gap in research addressing vision-related interventions and PROs for USH.
• Multidisciplinary approaches are essential to address the ongoing challenges and enhance the quality of life for individuals with Usher Syndrome.