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

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.</p

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

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.</p

Comparisons of audio and audiovisual measures of stuttering frequency and severity in preschool-age children

Purpose: To determine whether measures of stuttering frequency and measures of overall stuttering severity in preschoolers differ when made from audio-only recordings compared with audiovisual recordings. Method: Four blinded speech-language pathologists who had extensive experience with preschoolers who stutter measured stuttering frequency and rated overall severity from audio-only and audiovisual recordings of 36 preschool children who were stuttering. Stuttering frequency (percentage of syllables stuttered [%SS]) was based on counts of perceptually unambiguous stutterings, made in real time, and overall severity was measured using a 9-point rating scale. Results: Stuttering frequency was statistically significantly lower by around 20% when made from audio-only recordings. This was found to be directly attributable to differences in the counts of stuttered syllables, rather than to differences in the total numbers of syllables spoken. No significant differences were found between recording modalities for the ratings of overall severity. Correlations between %SS scores in the 2 modalities and severity rating scores in the 2 modalities were high, indicating that observers agreed on data trends across speech samples. Conclusions: Measures of %SS made from audio-only recordings may underestimate stuttering frequency in preschoolers. Although audio-only %SS measures may underestimate stuttering frequency at the start of a clinical trial to a clinically significant extent, posttreatment scores at or below 1.0%SS are likely to underestimate by 0.2%SS or less, which is clinically insignificant

Risk factors for voice problems in teachers.

Item does not contain fulltextIn order to identify factors that are associated with voice problems and voice-related absenteeism in teachers, 1,878 questionnaires were analysed. The questionnaires inquired about personal data, voice complaints, voice-related absenteeism from work and conditions that may lead to voice complaints and absenteeism. Different factors play a role in the development and consolidation of voice problems. Physical and psycho-emotional factors appear to be the most important risk factors. Remarkably, voice load and environment seem to be less important as risk factors in the development and consolidation of voice complaints. Teachers who experienced voice problems during their training reported more voice problems during their career. The results of this study stress the importance of a multifactorial approach in the diagnosis and treatment of voice problems, whereby physical and psycho-emotional aspects should be considered as sensitive to the risk of developing voice problems. Moreover, this study shows the crucial importance of adequate voice training during the teacher training programme