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Multicenter Study
. 2023 Dec 15;52(1):82.
doi: 10.1186/s40463-023-00680-3.

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

M L A Fehrmann  1 , W J Huinck  1 , M E G Thijssen  1 , L Haer-Wigman  2 , H G Yntema  2 , L J C Rotteveel  3 , J C C Widdershoven  4 , T Goderie  5 , M F van Dooren  6 , E H Hoefsloot  6 , M P van der Schroeff  7 , E A M Mylanus  1 ; DOOFNL consortium; C P Lanting  1 , R J E Pennings  8
Collaborators, Affiliations
Multicenter Study

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

M L A Fehrmann et al. J Otolaryngol Head Neck Surg. .

Abstract

Background: The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor cochlear implant (CI) performance. It was long thought that TMPRSS3 was particularly expressed in the SGNs. However, this is not in line with recent reviews evaluating CI performance in subjects with TMPRSS3-associated sensorineural hearing loss (SNHL) reporting overall beneficial outcomes. These outcomes are, however, based on variable follow-up times of, in general, 1 year or less. Therefore, we aimed to 1. evaluate long-term outcomes after CI implantation of speech recognition in quiet in subjects with TMPRSS3-associated SNHL, and 2. test the spiral ganglion hypothesis using the TMPRSS3-group.

Methods: This retrospective, multicentre study evaluated long-term CI performance in a Dutch population with TMPRSS3-associated SNHL. The phoneme scores at 70 dB with CI in the TMPRSS3-group were compared to a control group of fully genotyped cochlear implant users with post-lingual SNHL without genes affecting the SGN, or severe anatomical inner ear malformations. CI-recipients with a phoneme score ≤ 70% at least 1-year post-implantation were considered poor performers and were evaluated in more detail.

Results: The TMPRSS3 group consisted of 29 subjects (N = 33 ears), and the control group of 62 subjects (N = 67 ears). For the TMPRSS3-group, we found an average phoneme score of 89% after 5 years, which remained stable up to 10 years post-implantation. At both 5 and 10-year follow-up, no difference was found in speech recognition in quiet between both groups (p = 0.830 and p = 0.987, respectively). Despite these overall adequate CI outcomes, six CI recipients had a phoneme score of ≤ 70% and were considered poor performers. The latter was observed in subjects with residual hearing post-implantation or older age at implantation.

Conclusion: Subjects with TMPRSS3-associated SNHL have adequate and stable long-term outcomes after cochlear implantation, equal to the performance of genotyped patient with affected genes not expressed in the SGN. These findings are not in line with the spiral ganglion hypothesis. However, more recent studies showed that TMPRSS3 is mainly expressed in the hair cells with only limited SGN expression. Therefore, we cannot confirm nor refute the spiral ganglion hypothesis.

Keywords: Clinical decision-making; Cochlear implant outcomes; Cochlear implantation; Disease management; Hereditary hearing loss; Sensorineural hearing loss; TMPRSS3.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Audiograms in the TMPRSS3-group. Audiograms are ranged from lowest to highest age during implantation. Pre-implantation audiograms indicate unaided audiograms. Post-implantation audiograms were measured at 6 ± 5 months post implantation
Fig. 1
Fig. 1
Audiograms in the TMPRSS3-group. Audiograms are ranged from lowest to highest age during implantation. Pre-implantation audiograms indicate unaided audiograms. Post-implantation audiograms were measured at 6 ± 5 months post implantation
Fig. 1
Fig. 1
Audiograms in the TMPRSS3-group. Audiograms are ranged from lowest to highest age during implantation. Pre-implantation audiograms indicate unaided audiograms. Post-implantation audiograms were measured at 6 ± 5 months post implantation
Fig. 2
Fig. 2
Cochlear implant performance in TMPRSS3- and control-group. A Boxplot of pure tone average (PTA) scores in the TMPRSS3-group. The pre-implantation PTA indicates the best-aided/unaided PTA measured with inserts/headphone. The follow-up PTA are free field measurements. The long-term follow up was 7.2 ± 3.7 years. B Boxplot of phoneme scores at 70 dB in the TMPRSS3-group. The pre-implantation phoneme-score indicates the best-aided/unaided phoneme score measured with inserts/headphone. The follow-up phoneme scores are free field measurements. The long-term follow up was 9.8 ± 3.7 years. C Boxplot of the long-term phoneme scores at 70 dB in the TMPRSS3-group and control-group, with a follow up time of respectively 9.8 ± 3.7 and 8.7 ± 3.2 years. D Phoneme score at 70 dB of the total study population (TMPRSS3- and control group) ranged from lowest to highest with a mean phoneme score of 85 ± 14% at a mean follow up time of 7.8 years. Black bars indicate the TMPRSS3-patients
Fig. 3
Fig. 3
Postimplantation phoneme scores at 70 dB of each ear in the TMPRSS3-patients over the years
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References

    1. Morton CC, Nance WE. Newborn hearing screening—a silent revolution. N Engl J Med. 2006;354(20):2151–2164. doi: 10.1056/NEJMra050700. - DOI - PubMed
    1. Smith R, Shearer AE, Camp G. Hereditary hearing loss homepage 2021. https://hereditaryhearingloss.org/. Accessed Feb 2023.
    1. Moon IS, Grant AR, Sagi V, Rehm HL, Stankovic KM. TMPRSS3 gene variants with implications for auditory treatment and counseling. Front Genet. 2021;12:780874. doi: 10.3389/fgene.2021.780874. - DOI - PMC - PubMed
    1. Scott HS, Kudoh J, Wattenhofer M, Shibuya K, Berry A, Chrast R, et al. Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nat Genet. 2001;27(1):59–63. doi: 10.1038/83768. - DOI - PubMed
    1. Holder JT, Morrel W, Rivas A, Labadie RF, Gifford RH. Cochlear implantation and electric acoustic stimulation in children with TMPRSS3 genetic mutation. Otol Neurotol. 2021;42(3):396–401. doi: 10.1097/MAO.0000000000002943. - DOI - PMC - PubMed

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