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.

Patients with Pendred syndrome: is cochlear implantation beneficial?

OBJECTIVE: To evaluate the benefit of cochlear implantation in patients with Pendred syndrome. DESIGN: Retrospective study. SETTING: Tertiary centre. PARTICIPANTS AND MAIN OUTCOME MEASURES: Speech perception was measured using a phonetically balanced word list at a sound pressure level of 65 dB. Post-operative phoneme scores at 12-month for adults and 36-month for children with Pendred syndrome were compared to scores of patients with an enlarged vestibular aqueduct (EVA) and a reference group with an unknown cause of hearing impairment. Quality of life was measured with the Nijmegen Cochlear Implant Questionnaire to evaluate the differences between pre- and post-implantation. RESULTS: The mean post-operative phoneme scores were as follows: in the Pendred group, 91% (n = 16; SD = 10) for children and 78% (n = 7; SD = 14) for adults; in the reference group, 79% (n = 59; SD = 20) for children and 73% (n = 193; SD = 18) for adults; and in the EVA group, 84% (n = 6; SD = 7) for children and 66% (n = 12; SD = 22) for adults. A significant difference in speech perception was found between the children of the Pendred group and the reference group of 11.4% (SE = 5.2; P = 0.031). Between the adults, a difference of 11.2% (SE = 6.7; P = 0.094) was found. The difference between the Pendred group and the EVA group was 5.7%(SE = 4.5; P = 0.22) for children and 9.9% (SE = 8.7; P = 0.28) for adults. A significant improvement post-implantation in four of the six subdomains of the quality of life questionnaire was found: basic sound perception (P = 0.002), advanced sound perception (P = 0.004), speech production (P = 0.018) and activity limitations (P = 0.018). The two not significant subdomains were self-esteem (P = 0.164) and social interaction (P = 0.107). CONCLUSIONS: After cochlear implantation, children with Pendred syndrome performed better than the reference group with respect to speech perception, however, adults performed similar. No significant differences were found between the Pendred and EVA group. Consequently, during pre-operative counselling, the two groups of patients may be considered comparable in terms of expected speech perception performance after cochlear implantation.

Epidemiology of voice problems in Dutch teachers.

In order to assess voice complaints and absence from work due to voice problems among teachers of primary and secondary education, as well as among a control group, 2,117 questionnaires were analysed. The total group consisted of 1,878 teachers and 239 controls. Female teachers more frequently reported voice complaints and absence from work due to voice problems than their male colleagues. No unequivocal relationship between age on the one hand and voice complaints and absence from work due to voice problems on the other hand was observed. Therefore, the percent of cases was corrected for gender but not for age. More than half of the teachers reported voice problems during their career and about one fifth had a history of absence from work due to voice problems. These numbers are relatively high compared to those of the controls with as well as to those without a vocally demanding profession. More than 20% of the teachers sought medical help or had been treated for a voice problem. Remarkably, more than 12% of the teachers had experienced voice problems during their training and this group reported significantly more voice complaints and absence from work due to voice problems in their career than the colleagues without voice problems during the training. The results of the Voice Handicap Index scores followed these trends. These findings point at voice problems during education as a risk factor for getting voice problems during the career. The results of this study clearly demonstrate that teaching is a high-risk profession for the development of voice problems, which is in accordance with other studies and support the contention that voice is a worldwide problem in the teaching profession. Furthermore, this study indicates the importance of voice care not only during training for the profession but also during the career.

Agrammatic production of subject-verb agreement: the effect of conceptual number.

Three experiments tested the hypothesis that the deficit underlying agrammatic sentence production difficulties can be characterized as a limitation of computational resources and that these resources are not restricted to syntactic processing. This hypothesis was tested by eliciting subject-verb agreement errors in a sentence fragment completion paradigm. Sentence fragments were complex noun phrases, containing a subject (head) noun and a modifying prepositional phrase, containing a "local" noun. We varied the number of "tokens" a singular head noun referred to. Therefore, in one condition, grammatical and conceptual number of the head noun mismatched, whereas these numbers were the same in another condition. In Experiments 1 and 2, we observed an effect of this variable (i.e., more agreement errors when conceptual number was plural and grammatical number singular) in normal controls. Broca's aphasics, on the other hand, showed no effect. Experiment 3 consisted of a sentence/picture matching test. This test showed that the lack of effect with Broca's aphasics cannot be attributed to a comprehension deficit. We argue that these results are incompatible with the notion of a limitation in resources specific for syntactic processing. Instead, we interpret this as the result of a trade-off: Broca's aphasics lack computational resources to take into account both grammatical and conceptual information in morphosyntactic processing and rely on grammatical information only.