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Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees

  • Otology
  • Published:
European Archives of Oto-Rhino-Laryngology Aims and scope Submit manuscript

Abstract

Purpose

A challenge for patients with ski-slope hearing loss is that hearing aids do not adequately amplify the mid-to-high frequencies necessary for speech perception and conversely, cochlear implant (CI) may damage low-frequency hearing. We aimed to describe the clinical profile of patients with ski-slope hearing loss, with a special focus on aetiology of such hearing loss and audiological course of low-frequency hearing after CI.

Methods

We recruited hearing-impaired patients who visited a tertiary referral centre and met the criteria for ski-slope hearing loss patients from 2015 to 2021. Genetic testing was performed in all ski-slope hearing loss patients unless refused. Baseline audiograms of patients who continued to use hearing aids or who finally underwent CIs were reviewed. As for CI patients, outcome and hearing preservation rate were rigorously analysed.

Results

Of 46 recruited patients with ski-slope hearing loss, 45 agreed to undergo genetic testing and causative variants were identified in 17 (37.8%) patients. The TMC1, MYO7A, and TMPRSS3 variants were the most common, while LRTOMT was newly identified as a causative gene. Twenty-five patients eventually received CI, while 13 continued to wear the hearing aid and 8 patients did not ever try hearing aids. CI in ski-slope hearing loss led to immediate and sufficient improvement of sentence recognition by as early as 3 months, however, the duration of hearing loss was inversely correlated with the sentence recognition score. The average hearing preservation rate (using the HEARRING classification) after CI was 53.0% (SD 30.0) and 45.6% (SD 31.1) at 1 year. Seventy-nine percent of implantees maintained functional low-frequency hearing (better than 85 dB at 250 and 500 Hz) eligible for electric-acoustic stimulation (EAS). A trend was found that patients with hair cell stereocilia-associated genetic variants may have a slightly better preservation, albeit with no statistical significance.

Conclusion

Detection rate of a molecular genetic aetiology of ski-slope hearing loss appears to be lower than other type of hearing loss reported in the literature. Especially with short hearing loss duration, CI in ski-slope hearing loss leads to immediate and sufficient speech improvement, while preserving functional low-frequency hearing eligible for EAS as many as in 79%. A certain genetic aetiology might be associated with a trend towards better low-frequency hearing preservation.

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Funding

This study was supported by SNUBH intramural research fund (SNUBH-14-2021-0003 to Choi B.Y). This study was also supported by the Basic Science Research Program through the NRF, funded by the Ministry of Education (Grant 2021R1A2C209203811 to Choi B.Y).

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Authors and Affiliations

  1. Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, 300 Gumi-dong, Bundang-gu, Seongnam, 463-707, Republic of Korea

    Yehree Kim, Jin Hee Han, Hyo Soon Yoo & Byung Yoon Choi

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  1. Yehree Kim
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Contributions

The final manuscript has been read and approved by all the authors, and they have given necessary attention to the manuscript to ensure the integrity of the work. YK and BYC designed and analysed data and wrote the paper; YK, JHH and HSY collected and analysed data; YK performed the statistical analysis.

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Correspondence to Byung Yoon Choi.

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Kim, Y., Han, J.H., Yoo, H.S. et al. Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees. Eur Arch Otorhinolaryngol 279, 4871–4882 (2022). https://doi.org/10.1007/s00405-022-07317-7

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  • DOI: https://doi.org/10.1007/s00405-022-07317-7

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