Good cochlear implantation outcomes in subjects with mono-allelic WFS1-associated sensorineural hearing loss – a case series.

Objective: This study aimed to evaluate long-term cochlear implant (CI) outcomes in individuals with mono-allelic pathogenic variants in WFS1, which is associated with both Wolfram-like syndrome and DFNA6/14/38. Design: Retrospective case series. Study sample: Seven CI recipients, ranging from eight...

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Publicado en:International Journal of Audiology Vol. 64; no. 8; pp. 863 - 872
Autores principales: Fehrmann, M. L. A., Lanting, C. P., Haer-Wigman, L., Mylanus, E. A. M., Huinck, W. J., Pennings, R. J. E.
Formato: research tables/charts Journal Article
Publicado: Taylor & Francis Ltd Aug2025
Acceso en línea:Ver este registro en EBSCOhost
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      jtl: International Journal of Audiology
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      dt: Aug2025
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      pub: Taylor & Francis Ltd
      place: Philadelphia, Pennsylvania
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        10.1080/14992027.2024.2411579
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        atl: Good cochlear implantation outcomes in subjects with mono-allelic WFS1-associated sensorineural hearing loss – a case series.
      aug:
        au:
          Fehrmann, M. L. A.
          Lanting, C. P.
          Haer-Wigman, L.
          Mylanus, E. A. M.
          Huinck, W. J.
          Pennings, R. J. E.
        affil: Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands
      sug:
        subj:
          Hearing Loss, Sensorineural Familial and Genetic
          Cochlear Implant
          Treatment Outcomes
          Wolfram Syndrome
          Alleles
          Genetic Variation
          Dutch Persons
          Human
          Male
          Female
          Retrospective Design
          Record Review
          Nonexperimental Studies
          Netherlands
          Evoked Potentials, Auditory, Brainstem
          Genotype
          Phenotype
          Audiometry
          Descriptive Statistics
          Data Analysis Software
          Mann-Whitney U Test
          Middle Age
          Aged
          Confidence Intervals
          Speech Perception
          Acoustic Stimulation
          Funding Source
          Middle Aged: 45-64 years
          Aged: 65+ years
          Male
          Female
      ab: Objective: This study aimed to evaluate long-term cochlear implant (CI) outcomes in individuals with mono-allelic pathogenic variants in WFS1, which is associated with both Wolfram-like syndrome and DFNA6/14/38. Design: Retrospective case series. Study sample: Seven CI recipients, ranging from eight months to 58 years of age, were included in the study, including four with Wolfram-like syndrome and three with DFNA6/14/38. A total of ten cochlear implantations were performed among these subjects. Results: At one-year post-implantation, a mean phoneme score of 90 ± 9% at 65 dB SPL in quiet was found, which remained stable up to ten years post-implantation with a mean phoneme score of 94 ± 6%. Despite these excellent outcomes, one subject achieved no speech recognition with CI and eventually became a non-user. This individual had a prolonged absence of auditory stimulation prior to implantation and encountered multiple challenges during rehabilitation. Conclusion: Individuals with Wolfram-like syndrome or DFNA6/14/38 demonstrate consistently good outcomes following implantation, which remain stable over time. These findings affirm cochlear implantation as an effective rehabilitation option for these individuals. Furthermore, the stable and good CI outcomes contradict the suggested link between WFS1-associated sensorineural hearing loss and auditory neuropathy.
      pubtype: Academic Journal
      doctype:
        research
        tables/charts
        Journal Article
      ougenre: Article
    language: English
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