Presentation Date
13-10-2022 12:00 AM
Description
BACKGROUND: Usher syndrome (Usher) is the most common genetic cause of concurrent deafness and blindness. Currently, 3 clinical types and 10 genes are associated with the disease. Approximately 2.5% of Usher is caused by mutations in the USH1C gene. At least 50 mutations in the USH1C gene have been reported to cause USH1C, however the c.216G>A mutation accounts for nearly all Usher 1 cases in Acadian patients of Louisiana, USA, and Canada. Progress over the past two decades in access to genetic testing, early diagnosis, and cochlear implantation has significantly improved clinical management for patients with hearing loss, including Usher. Today, USH1C patients typically receive cochlear implants with follow-up care from otolaryngologists, audiologists, and speech language pathologists, and use oral communication. However, long-term audio-verbal outcomes following implantation in USH1C patients are not known. OBJECTIVES: The objective of this study is to determine cochlear implant success in USH1C patients via retrospective chart review. METHODS: Demographics, genetic diagnosis, cochlear implant device, and post-implantation hearing and audio-verbal therapy will be evaluated by retrospective chart review. Recruitment of patients will occur through multiple means, including deaf-blind support groups, physicians, and Usher syndrome symposiums throughout Louisiana. RESULTS: 109 participants are currently enrolled in our retrospective natural history of Usher syndrome in Louisiana study. Of these, 28/109 (25.7%) use cochlear implants and have genetic confirmation of USH1C disease. 10/28 (35.7%) participants range in age from 1 – 24 years and have meaningful retrospective data, including cochlear implant device manufacturer and electrode type, age at implantation, pure tone audiograms, speech awareness and reception thresholds, word discrimination tests, and speech therapy metrics. Collection of the remaining charts and preliminary assessments of longitudinal hearing and audio-verbal measures are underway. CONCLUSIONS: A careful understanding of audio-verbal outcomes, implant device, and USH1C genotype will improve clinical knowledge and care for patients with Usher syndrome.
Recommended Citation
Theriot, Ty; Kristaponyte, Inga; Arriaga, Moises; and Lentz, Jennifer J., "Audio-verbal outcomes following cochlear implantation in USH1C patients" (2022). Medical Research Day. 81.
https://digitalscholar.lsuhsc.edu/sommrd/2022MRD/Posters/81
Included in
Audio-verbal outcomes following cochlear implantation in USH1C patients
BACKGROUND: Usher syndrome (Usher) is the most common genetic cause of concurrent deafness and blindness. Currently, 3 clinical types and 10 genes are associated with the disease. Approximately 2.5% of Usher is caused by mutations in the USH1C gene. At least 50 mutations in the USH1C gene have been reported to cause USH1C, however the c.216G>A mutation accounts for nearly all Usher 1 cases in Acadian patients of Louisiana, USA, and Canada. Progress over the past two decades in access to genetic testing, early diagnosis, and cochlear implantation has significantly improved clinical management for patients with hearing loss, including Usher. Today, USH1C patients typically receive cochlear implants with follow-up care from otolaryngologists, audiologists, and speech language pathologists, and use oral communication. However, long-term audio-verbal outcomes following implantation in USH1C patients are not known. OBJECTIVES: The objective of this study is to determine cochlear implant success in USH1C patients via retrospective chart review. METHODS: Demographics, genetic diagnosis, cochlear implant device, and post-implantation hearing and audio-verbal therapy will be evaluated by retrospective chart review. Recruitment of patients will occur through multiple means, including deaf-blind support groups, physicians, and Usher syndrome symposiums throughout Louisiana. RESULTS: 109 participants are currently enrolled in our retrospective natural history of Usher syndrome in Louisiana study. Of these, 28/109 (25.7%) use cochlear implants and have genetic confirmation of USH1C disease. 10/28 (35.7%) participants range in age from 1 – 24 years and have meaningful retrospective data, including cochlear implant device manufacturer and electrode type, age at implantation, pure tone audiograms, speech awareness and reception thresholds, word discrimination tests, and speech therapy metrics. Collection of the remaining charts and preliminary assessments of longitudinal hearing and audio-verbal measures are underway. CONCLUSIONS: A careful understanding of audio-verbal outcomes, implant device, and USH1C genotype will improve clinical knowledge and care for patients with Usher syndrome.
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