Usher Syndrome in Medicine
Location
Virtual
Presentation Date
30-10-2025 9:30 AM
End Date
30-10-2025 1:00 PM
Description
Background: Usher Syndrome is a rare genetic disorder characterized by combined hearing loss and progressive vision loss. While early recognition is critical for intervention and patient support, existing literature suggests that many medical students and physicians have limited awareness or clinical exposure to this condition. This study hypothesizes that, consistent with prior research, most medical students and even practicing physicians may be unfamiliar with the nuances of Usher Syndrome diagnosis and management.
Methods: We designed a comprehensive survey targeting physicians, incorporating validated and newly developed questions to assess recognition of Usher Syndrome inheritance patterns, clinical features, and management strategies. The survey also included items on demographics, prior training, and self-reported confidence in addressing genetic conditions. Distributed across diverse practice settings, it simultaneously served as an educational tool by offering respondents resources to enhance their awareness of Usher Syndrome.
Results: While LSU-specific results remain under review and are not yet public, the findings from prior studies offer a benchmark for understanding educational and awareness needs surrounding Usher Syndrome.
Ayton et al. (2023) emphasized that many clinicians lacked familiarity with vestibular symptoms, vision loss progression, and the psychosocial impact of Usher Syndrome. The authors concluded that training in multidisciplinary recognition and referral could significantly improve patient outcomes. Similarly, Day & Brice (2012) demonstrated that parents valued clear, accessible, and empathetic guidance, but noted that medical professionals often failed to provide comprehensive explanations of genetic testing or dual sensory loss.
Together, these studies suggest that both providers and caregivers face critical knowledge and communication gaps, which the developing LSU questionnaire aims to measure and address through structured assessment of awareness, preparedness, and interprofessional coordination in medical education settings.
Recommended Citation
Gibson, Nathaniel, "Usher Syndrome in Medicine" (2025). Medical Student Research Poster Symposium. 7.
https://digitalscholar.lsuhsc.edu/sommrd/2025MSRD/virtual/7
Abstract
Usher Syndrome in Medicine
Virtual
Background: Usher Syndrome is a rare genetic disorder characterized by combined hearing loss and progressive vision loss. While early recognition is critical for intervention and patient support, existing literature suggests that many medical students and physicians have limited awareness or clinical exposure to this condition. This study hypothesizes that, consistent with prior research, most medical students and even practicing physicians may be unfamiliar with the nuances of Usher Syndrome diagnosis and management.
Methods: We designed a comprehensive survey targeting physicians, incorporating validated and newly developed questions to assess recognition of Usher Syndrome inheritance patterns, clinical features, and management strategies. The survey also included items on demographics, prior training, and self-reported confidence in addressing genetic conditions. Distributed across diverse practice settings, it simultaneously served as an educational tool by offering respondents resources to enhance their awareness of Usher Syndrome.
Results: While LSU-specific results remain under review and are not yet public, the findings from prior studies offer a benchmark for understanding educational and awareness needs surrounding Usher Syndrome.
Ayton et al. (2023) emphasized that many clinicians lacked familiarity with vestibular symptoms, vision loss progression, and the psychosocial impact of Usher Syndrome. The authors concluded that training in multidisciplinary recognition and referral could significantly improve patient outcomes. Similarly, Day & Brice (2012) demonstrated that parents valued clear, accessible, and empathetic guidance, but noted that medical professionals often failed to provide comprehensive explanations of genetic testing or dual sensory loss.
Together, these studies suggest that both providers and caregivers face critical knowledge and communication gaps, which the developing LSU questionnaire aims to measure and address through structured assessment of awareness, preparedness, and interprofessional coordination in medical education settings.
Comments
Mentor: Dr. Nicky Gillies, LSUHSC-Human Development Center