Gene mutations as a non-invasive measure of adult cochlear implant performance: Variable outcomes in patients with select TMPRSS3 mutations.

BackgroundThe cochlear implant (CI) has proven to be a successful treatment for patients with severe-to-profound sensorineural hearing loss, however outcome variance exists. We sought to evaluate particular mutations discovered in previously established sensory and neural partition genes and compare post-operative CI outcomes.Materials and methodsUtilizing a prospective cohort study design, blood samples collected from adult patients with non-syndromic hearing loss undergoing CI were tested for 54 genes of interest with high-throughput sequencing. Patients were categorized as having a pathogenic variant in the sensory partition, pathogenic variant in the neural partition, pathogenic variant in both sensory and neural partition, or with no variant identified. Speech perception performance was assessed pre- and 12 months post-operatively. Performance measures were compared to genetic mutation and variant status utilizing a Wilcoxon rank sum test, with PResultsThirty-six cochlear implant patients underwent genetic testing and speech understanding measurements. Of the 54 genes that were interrogated, three patients (8.3%) demonstrated a pathogenic mutation in the neural partition (within TMPRSS3 genes), one patient (2.8%) demonstrated a pathogenic mutation in the sensory partition (within the POU4F3 genes). In addition, 3 patients (8.3%) had an isolated neural partition variance of unknown significance (VUS), 5 patients (13.9%) had an isolated sensory partition VUS, 1 patient (2.8%) had a variant in both neural and sensory partition, and 23 patients (63.9%) had no mutation or variant identified. There was no statistically significant difference in speech perception scores between patients with sensory or neural partition pathogenic mutations or VUS. Variable performance was found within patients with TMPRSS3 gene mutations.ConclusionThe impact of genetic mutations on post-operative outcomes in CI patients was heterogenous. Future research and dissemination of mutations and subsequent CI performance is warranted to elucidate exact mutations within target genes providing the best non-invasive prognostic capability

Management of single-sided deafness with the bone-anchored hearing aid

OBJECTIVES: The benefits of the bone-anchored hearing aid (BAHA) for rehabilitation of conductive and mixed hearing loss are well established. Recently, the BAHA was used to rehabilitate patients with single-sided deafness (SSD). In this study, the benefits of the BAHA in SSD are presented. STUDY DESIGN: Case series with planned data collection. SETTING: Tertiary referral center. SUBJECTS AND METHODS: Twenty-one consecutive adult patients with SSD underwent single-stage BAHA implantation on the side of deafness. Testing in sound field was performed using the hearing-in-noise test (HINT) in both unaided and aided conditions. Speech and noise signals were delivered through two speakers oriented in two test paradigms. The outcomes were expressed as signal-to-noise (S/N) ratios. Subjective benefit analyses were determined through two questionnaires: the Abbreviated Profile of Hearing Aid Benefit (APHAB) and the Glasgow Hearing Aid Benefit Profile (GHABP). RESULTS: All subjects demonstrated significant improvement in speech reception thresholds with the HINT using the BAHA, especially with the 90/270 speaker paradigm, in which the mean improvement over the unaided condition was 5.5 dB SPL (range, 2.0-11.0 dB; P=0.00001). Qualitative subjective outcome measures demonstrated additional benefits. CONCLUSION: In SSD patients, the BAHA provides significant subjective benefits and improves speech understanding in noise

Dataset.

BackgroundThe cochlear implant (CI) has proven to be a successful treatment for patients with severe-to-profound sensorineural hearing loss, however outcome variance exists. We sought to evaluate particular mutations discovered in previously established sensory and neural partition genes and compare post-operative CI outcomes.Materials and methodsUtilizing a prospective cohort study design, blood samples collected from adult patients with non-syndromic hearing loss undergoing CI were tested for 54 genes of interest with high-throughput sequencing. Patients were categorized as having a pathogenic variant in the sensory partition, pathogenic variant in the neural partition, pathogenic variant in both sensory and neural partition, or with no variant identified. Speech perception performance was assessed pre- and 12 months post-operatively. Performance measures were compared to genetic mutation and variant status utilizing a Wilcoxon rank sum test, with PResultsThirty-six cochlear implant patients underwent genetic testing and speech understanding measurements. Of the 54 genes that were interrogated, three patients (8.3%) demonstrated a pathogenic mutation in the neural partition (within TMPRSS3 genes), one patient (2.8%) demonstrated a pathogenic mutation in the sensory partition (within the POU4F3 genes). In addition, 3 patients (8.3%) had an isolated neural partition variance of unknown significance (VUS), 5 patients (13.9%) had an isolated sensory partition VUS, 1 patient (2.8%) had a variant in both neural and sensory partition, and 23 patients (63.9%) had no mutation or variant identified. There was no statistically significant difference in speech perception scores between patients with sensory or neural partition pathogenic mutations or VUS. Variable performance was found within patients with TMPRSS3 gene mutations.ConclusionThe impact of genetic mutations on post-operative outcomes in CI patients was heterogenous. Future research and dissemination of mutations and subsequent CI performance is warranted to elucidate exact mutations within target genes providing the best non-invasive prognostic capability.</div

Post-operative z-score of patients with identified variance of unknown significance.

Post-operative z-score of patients with identified variance of unknown significance.</p

Towards a Unified Testing Framework for Single-Sided Deafness Studies: A Consensus Paper

International audienc