Patient reported outcomes in Usher Syndrome: a systematic review

Usher Syndrome (USH) is a leading cause of deaf-blindness and significantly impacts quality of life. With no cure, it is essential to focus on addressing functional impairments and emotional well-being in 10 affected individuals. A systematic search was conducted on MEDLINE, Embase, PsychInfo, CINHAL, Web of Science, and Cochrane Library until 4 September 2024 to identify studies on patient-reported outcomes (PROs) in USH. 27 studies (1,009 participants, mean age 47.0, 52.4% female) focused on USH, with 74.1% having type 2, 31.4% having type 1, and 6.8% having type 3. 18 studies used quantitative methods, and 9 were qualitative. The Glasgow Benefit Inventory (GBI) was the most common PRO measure, followed by the Nijmegen Cochlear Implant Questionnaire, Usher Lifestyle Survey (ULS), and SF-12 (2 studies each). Weighted GBI scores indicated moderate benefits, but lower physical scores highlighted ongoing limitations. The ULS found that participants needed equipment for information access and mobility assistance. Notably, no studies addressed vision-related interventions, and only one used a vision-specific PRO measure. Qualitative findings emphasized psychological well-being and social support. PRO data in USH is limited, underscoring the need for standardized measures and vision-related interventions. Ongoing challenges emphasize the need for multidisciplinary approaches to improve quality of life.