Targeted Next-Generation Sequencing Analysis Reveals a Novel Genetic Variant in MYO6 Gene in an Indian Family with Postlingual Nonsyndromic Hearing Loss.

Background: Hereditary nonsyndromic hearing loss (NSHL) is an extremely heterogeneous disorder, both genetically and clinically. Myosin VI (MYO6) pathogenic variations have been reported to cause both prelingual and postlingual forms of NSHL. Postlingual autosomal dominant cases are often overlooked for genetic etiology in clinical setups. In this study, we used next-generation sequencing (NGS)-based targeted deafness gene panel assay to identify the cause of postlingual hearing loss in an Indian family. Methods: The proband and his father from a multigenerational Indian family affected by postlingual hearing loss were examined via targeted capture of 129 deafness genes, after excluding gap junction protein beta 2 (GJB2) pathogenic variants by Sanger sequencing. NGS data analysis and co-segregation of the candidate variants in the family were carried out. The variant effect was predicted by in silico tools and interpreted following American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines. Results: A novel heterozygous transversion c.3225T>G, p.(Tyr1075*) in MYO6 gene was identified as the disease-causing variant in this family. This stop-gained variant is predicted to form a truncated myosin VI protein, which is devoid of crucial cargo-binding domain. PCR-RFLP screening in 200 NSHL cases and 200 normal-hearing controls showed the absence of this variant indicating its de novo nature in the population. Furthermore, we reviewed MYO6 variants reported from various populations to date. Conclusions: To the best of our knowledge, this is the first family with MYO6-associated hearing loss from an Indian population. The study also highlights the importance of deafness gene panels in molecular diagnosis of GJB2-negative pedigrees, contributing to genetic counseling in the affected families.

Comparison the Voice Onset Time (VOT) of Postlingual Cochlear Implant Users and Normal Peers in the CAPE_V Sentences as Continues Speech Task.

BACKGROUND: Auditory perception plays a crucial role in speech and language development, emphasizing concerns about hearing loss. While cochlear implantation (CI) nearly tackles challenges associated with postlingual hearing loss in adults, the importance of "auditory feedback" and acoustic assessment becomes crucial for evaluating speech disorders and devising effective treatments. This study aims to address the gap in assessing Voice Onset Time (VOT) as an indicator of nuanced variations in the speech of CI users during a continuous speech task. METHOD: Recordings of Persian CAPE-V sentences were obtained from 25 CI users and 25 healthy speakers, with a mean age of 33.2years (SD=11.5, range=18-55years). Ten words, incorporating both voiced and voiceless consonants, were selected from the CAPE-V sentences. VOT measurements for the specified stop consonants at the initial syllables of these chosen words were computed using PRAAT. A comparative analysis between the two age- and gender-matched groups was conducted using an independent sample t test. Subsequently, ANCOVA was employed to examine the influence of demographic factors on VOT values among CI participants. RESULTS: Unvoiced consonant /p/ in /po/, /pɑ/, /pe/, and /pa/ syllables had higher VOT values in the healthy group, while the voiced consonant /d/ in /da/ and /di/ syllables demonstrated higher VOT values in the CI group (P < 0.05). Apart from /po/ and /di/ syllables, no significant impacts of demographic factors on VOT values were observed (P ≥ 0.8). CONCLUSION: Despite the improvement in speech quality after CI, subtle differences persist. The motor theory, which underscores the impact of auditory inputs on temporal coordination, highlights the role of VOT in speech discrimination. Various linguistic factors affect VOT, including articulation position, vowel context, and raised vowels. While CI enhances syllable distinction, challenges in articulation for adults suggest a need for targeted training in rehabilitation programs, ultimately enhancing the quality of life for CI users.

Hearing outcomes following cochlear implantation with anatomic or default frequency mapping in postlingual deafness adults.

PURPOSE: The aim of this study was to compare the outcomes of different mapping procedures based on anatomic or default frequency distribution in postlingual deafness adults who underwent cochlear implantation (CI). METHODS: Forty-eight adults with postlingual deafness who underwent CI (MED-EL) from January 2021 to May 2022 in our hospital were prospectively recruited. The participants were randomly assigned to two groups (the anatomic group and the default group). Postoperative computerized tomography (CT) scans were evaluated with Otoplan® to determine the angular insertion depth (AID) and the specific locations of the intracochlear electrodes. Anatomic maps were imported into MAESTRO 9.0 software (MED-EL) for anatomy-based fitting for anatomic group, while default mapping program was set up for the default group. Hearing thresholds, Speech Recognition Scores (SRS), and subjects' auditory and musical abilities were evaluated 1 year after using the CI. Differences were determined in two groups using Stata statistical software, with significance defined as p < 0.05. RESULTS: SRS under noisy conditions was significantly greater for anatomic group than the default group (p = 0.02). Under quiet conditions, however, mean hearing thresholds (0.5, 1, 2, and 4 kHz) and SRS did not differ significantly between the two groups (p = 0.07). Modified questionnaires showed that auditory (p = 0.02) and musical (p = 0.01) quality were significantly better following the anatomic mapping than the default procedure. CONCLUSION: CI program based on the anatomic distribution may bring better SRS under noise conditions as well as better auditory and musical qualities than based on the default frequency distribution.

Electrically evoked auditory responses: A classification for brainstem implant placement in Neurofibromatosis Type 2.

OBJECTIVE: In auditory brainstem implant (ABI) surgery, array placement may be optimized by electrophysiological information of adequate brainstem activation gained from electrically evoked auditory brainstem responses (EABR). This study aims 1) to characterize in detail the EABR from ABI implantation, 2) to introduce an EABR Classification Scheme, and 3) to analyze data for their correlation with individual patients' findings. METHODS: Out of a continuous series of 54 patients who received an ABI between 2005 and 2019, 23 Neurofibromatosis Type 2 patients with complete documentation of 154 recordings were selected for offline analysis and for development and evaluation of a new EABR Classification Scheme comprising Class A: three vertex positive peaks, Class B:two peaks, Class C: a combination of one peak and a second melted double peak, Class D: one sole vertex positive peak and Class E: no peaks. RESULTS: All 23 subjects showed EABR at final ABI position and experienced auditory sensations at first activation. The most frequent morphology consisted of two peaks, Classes B and C. Identified mean latencies were for P1 0.42 ms (±0.095), P2 1.42 ms (±0.244) and P3 2.41 ms (±0.329). Peak latencies correlated positively with tumor extensions (p < 0.005). CONCLUSIONS: This study provides clear instructions on optimal EABR performance and evaluation. SIGNIFICANCE: The new EABR Classification Scheme relies on a fast "online" identification of vertex positive peaks at the estimated post-artifact phase. The variability in EABR morphology provides an individual snapshot of the actual structural and functional status of the brainstem.

Speech recognition and quality of life outcomes of adults with cochlear implants following a quarter-century of deafness: what should be the maximum duration?

PURPOSE: This study was aimed at examining the pre- and post-cochlear implant (CI) speech recognition and quality of life results of postlingually deaf adult CI users with a duration of deafness (DoD) > 25 years and determining the maximum DoD limit. METHODS: We enrolled 54 postlingually deaf CI users and divided them into ages ≤ 60 and > 60 years and DoDs ≤ 25 and > 25 years. All participants were evaluated using multisensory measures (auditory and auditory + visual) and open-set Speech Recognition Test (SRT) before CI and 3 years postoperatively. They were administered with The Hearing Handicap Inventory for the Elderly (HHIE) to determine the effects of hearing impairment on daily life. RESULTS: DoD and open-set SRT for auditory and auditory + visual stimuli showed a strong negative linear relationship (r = - 0.506, p < 0.01). Open-set SRT scores of patients with DoD aged ≤ 25 and > 25 years (p < 0.01) differed significantly. The chronological age and HHIE scores in social and emotional subfactors showed a strong negative linear relationship (r = - 0.519, p < 0.01). CONCLUSIONS: The present study showed that the number of years was a major factor determining that postlingual adults with profound hearing loss had hearing loss. The results support CI use as soon as possible in adults to prevent degeneration of the auditory pathways and possible central remodeling. However, auditory rehabilitation outcomes in adults using CI vary widely. Investigating the causes of this variability contributes to audiology.

Cochlear Implantation in Adults with Post-lingual Hearing Loss: Clinico-Demographical Study and Outcomes in the Current Times.

To describe clinico-demographical profile for post-lingual hearing loss in the adults undergoing cochlear implantation and their outcomes. A retrospective chart review was conducted including adult patients (> 18 years) with bilateral post-lingual severe to profound hearing loss who underwent cochlear implantation in a tertiary care hospital of north India. The clinico-demographical details were collected and the outcomes of the procedure were assessed in terms of speech intelligibility scores, usage and satisfaction scores. Twenty-one patients were included with a mean age of 38.6 years with 15 males and 6 females. The major cause of deafness was infections followed by ototoxicity. The complication rate was 4.8%. Preoperative SDS was not recordable in any of the patients. The mean postoperative SDS was 74%, with no issue of device malfunction in a mean follow-up of 44 months. Cochlear implantation is a safe surgery with good outcomes in post-lingually deafened adults with the major cause for deafness being infections.

Exploring neurocognitive factors and brain activation in adult cochlear implant recipients associated with speech perception outcomes-A scoping review.

Background: Cochlear implants (CIs) are considered an effective treatment for severe-to-profound sensorineural hearing loss. However, speech perception outcomes are highly variable among adult CI recipients. Top-down neurocognitive factors have been hypothesized to contribute to this variation that is currently only partly explained by biological and audiological factors. Studies investigating this, use varying methods and observe varying outcomes, and their relevance has yet to be evaluated in a review. Gathering and structuring this evidence in this scoping review provides a clear overview of where this research line currently stands, with the aim of guiding future research. Objective: To understand to which extent different neurocognitive factors influence speech perception in adult CI users with a postlingual onset of hearing loss, by systematically reviewing the literature. Methods: A systematic scoping review was performed according to the PRISMA guidelines. Studies investigating the influence of one or more neurocognitive factors on speech perception post-implantation were included. Word and sentence perception in quiet and noise were included as speech perception outcome metrics and six key neurocognitive domains, as defined by the DSM-5, were covered during the literature search (Protocol in open science registries: 10.17605/OSF.IO/Z3G7W of searches in June 2020, April 2022). Results: From 5,668 retrieved articles, 54 articles were included and grouped into three categories using different measures to relate to speech perception outcomes: (1) Nineteen studies investigating brain activation, (2) Thirty-one investigating performance on cognitive tests, and (3) Eighteen investigating linguistic skills. Conclusion: The use of cognitive functions, recruiting the frontal cortex, the use of visual cues, recruiting the occipital cortex, and the temporal cortex still available for language processing, are beneficial for adult CI users. Cognitive assessments indicate that performance on non-verbal intelligence tasks positively correlated with speech perception outcomes. Performance on auditory or visual working memory, learning, memory and vocabulary tasks were unrelated to speech perception outcomes and performance on the Stroop task not to word perception in quiet. However, there are still many uncertainties regarding the explanation of inconsistent results between papers and more comprehensive studies are needed e.g., including different assessment times, or combining neuroimaging and behavioral measures. Systematic review registration: https://doi.org/10.17605/OSF.IO/Z3G7W.

Longitudinal Speech Recognition Changes After Cochlear Implant: Systematic Review and Meta-analysis.

OBJECTIVES: To examine patterns of change and plateau in speech recognition scores in postlingually hearing impaired adult cochlear implant recipients. The study also examines variations in change patterns for different speech materials and testing conditions. STUDY DESIGN: Used systematic review with meta-analysis. METHODS: Articles in English reporting speech recognition scores of adults with postlingual hearing loss at pre-implantation and at least two post-implantation time points were included. Statistically significant changes were determined by meta-analysis and the 95% confidence interval. RESULTS: A total of 22 articles representing 1954 patients were included. Meta-analysis of mean difference demonstrated significant improvements in speech recognition score for words in quiet (37.4%; 95% confidence interval [34.7%, 40.7%]), sentences in quiet (49.4%; 95% confidence interval [44.9%, 53.9%]), and sentences in noise (30.8%; 95% confidence interval [25.2%, 36.4%]) from pre-op to 3 months. Scores continued to increase from 3 to 12 months but did not reach significance. Similarly, significant improvements from pre-op to 3 months were observed for consonant nucleus consonant (CNC) words in quiet (37.1%; 95% confidence interval [33.8%, 40.4%]), hearing in noise test (HINT) sentences in quiet (46.5%; 95% confidence interval [37.0%, 56.0%]), AzBio sentences in quiet (45.9%; 95% confidence interval [44.2%, 47.5%]), and AzBio sentences in noise (26.4%; 95% confidence interval [18.6%, 34.2%]). HINT sentences in noise demonstrated improvement from pre-op to 3 months (35.1%; 95% confidence interval [30.0%, 40.3%]) and from 3 to 12 months (15.5%; 95% confidence interval [7.2%, 23.8%]). CONCLUSIONS: Mean speech recognition scores demonstrate significant improvement within the first 3 months, with no further statistically significant improvement after 3 months. However, large individual variation should be expected and future research is needed to explain the sources of these individual differences. Laryngoscope, 133:1014-1024, 2023.

Ambulatory Phonation Monitoring in Prelingual and Postlingual Deaf Patients after Cochlear Implantation.

INTRODUCTION: Hearing loss is known to play a fundamental role in voice production due to a lack of auditory feedback. In this study, we evaluated both fundamental frequency (F0) and loudness of voice on adult deaf patients subjected to cochlear implantation, and we analyzed these results according to the prelingual or postlingual onset of the deafness. METHODS: The study population, balanced in terms of sex, consisted of 32 adults who had undergone cochlear implantation due to severe or profound bilateral hearing loss (16 with prelingual deafness and 16 with postlingual deafness) and their outcomes were compared with a control group of 32 normal hearing (NH) subjects. All subjects were asked to utter the sustained vowel /a/ for at least 5 s and then to read an Italian phonetically balanced text. Voice recordings were performed by means of an ambulatory phonation monitoring (APM 3200). Measurements were performed without cochlear implant (CI), then with CI switched on, both in quiet condition and with background noise. RESULTS: Compared to NH subjects, deaf individuals were overall characterized by higher F0 and loudness values, especially in the vowel task than the reading. In the sustained vowel task, no patients demonstrated significant voice changes after switching on the CI; contrarily, in the reading task, the use of the CI reduced both loudness and F0 up to values comparable to NH subjects, although only in males. There was no significant difference in speech parameters between prelingual and postlingual deafness, although overall lower values were evident in case of postlingual deafness. The use of the CI showed a significant reduction of F0 in males with postlingual deafness and of loudness, both for patients with prelingual and postlingual deafness. Finally, there was a positive correlation between postoperative hearing thresholds and overall speech loudness, highlighting how subjects with better hearing outcomes after CI positioning generally speak with a lower loudness and therefore a reduced vocal effort and load. DISCUSSION/CONCLUSION: We found similar speech performances between prelingual and postlingual deafness, both in the vowel /a/ phonation and in the reading, providing a further suggestion that prelingual adult patients may benefit from cochlear implantation in phonation as well, in addition to the known excellent hearing outcomes. Overall, these results highlight the ability of the CI to adjust in everyday speech certain phonatory aspects such as F0 and loudness by restoring the auditory feedback.

Diagnostic value of preoperative measures in selecting post-lingually deafened candidates for cochlear implantation - a different approach.

OBJECTIVES: We examined which preoperative diagnostic measure is most suited to serve as a selection criterion to determine adult cochlear implantation (CI) candidacy. DESIGN: Preoperative diagnostic measures included pure tone audiometry (PTA; 0.5, 1, 2, 4 kHz), speech perception tests (SPT) unaided with headphones and with best-aided hearing aids (in quiet and in noise). Gain in speech perception was used as outcome measure. Performance of preoperative measures was analysed using the area under the curve (AUC) of receiver operating characteristic (ROC) curves. STUDY SAMPLE: This retrospective longitudinal cohort study included 552 post-lingually deafened adults with CI in a tertiary referral centre in the Netherlands. RESULTS: Best-aided SPT in quiet was the most accurate in defining which CI candidates improved their speech perception in quiet postoperatively. For an improvement in speech perception in noise, the best-aided SPT in noise was the most accurate in defining which adult would benefit from CI. PTA measures performed lower compared to the SPT measures. CONCLUSIONS: SPT is better than PTA for selecting CI candidates who will benefit in terms of speech perception. Best-aided SPT in noise was the most accurate for indicating an improvement of speech perception in noise but was only evaluated in high performers with residual hearing. These insights will assist in formulating more effective selection criteria for CI.

Music Appreciation of Cochlear Implant Users versus Normal Hearing Individuals.

Introduction: Cochlear implants (CI) provide speech perception for patients with sensorineural hearing impairment; nonetheless, listening to music is a daunting challenge for them. The present study aimed to compare Iranian CI users and normal hearing (NH) controls in terms of musical habits and appreciation and investigate the possible effect of background variables. Materials and Methods: A total of 37 CI users who underwent surgery at least 18 months before the study and 59 NH listeners were enrolled in this study. The participants were assigned to two age groups: group A (patients ≥15 years old) and group B (patients <15 years old). They were asked to complete the questionnaires to assess their music engagement. Results: In group A, the mean score of music importance was significantly higher in CI users (8.7±2.1), as compared to that in NH subjects (5.8±2.3) (P=0.005). Participation in professional musical training and singing with music was not significantly different between the groups. In group B, the mean score of desire for music was not significantly different between CI users (8.2±1.8) and NH subjects (7.7±2.0). They participated in professional musical training and had a reaction to music almost equally. Singing with music was significantly less common in the CI group (CI 16[61.5%], NH (40[85.1%]) (P=0.023). Selected background variables had no significant effect on the music tendency and habits of CI users. Conclusions: Iranian CI users tended to have a high level of music appreciation in both adult and children groups. Moreover, CI users and NH controls did not significantly differ in the importance of music, devoted time, participation in musical activities, and musical habits.

Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains.

Autosomal dominant hearing loss (ADHL) manifests as an adult-onset disease or a progressive disease. MYO7A variants are associated with DFNA11, a subtype of ADHL. Here, we examined the role and genotype-phenotype correlation of MYO7A in ADHL. Enrolled families suspected of having post-lingual sensorineural hearing loss were selected for exome sequencing. Mutational alleles in MYO7A were identified according to ACMG guidelines. Segregation analysis was performed to examine whether pathogenic variants segregated with affected status of families. All identified pathogenic variants were evaluated for a phenotype-genotype correlation. MYO7A variants were detected in 4.7% of post-lingual families, and 12 of 14 families were multiplex. Five potentially pathogenic missense variants were identified. Fourteen variants causing autosomal dominant deafness were clustered in motor and MyTH4 domains of MYO7A protein. Missense variants in the motor domain caused late onset of hearing loss with ascending tendency. A severe audiological phenotype was apparent in individuals carrying tail domain variants. We report two new pathogenic variants responsible for DFNA11 in the Korean ADHL population. Dominant pathogenic variants of MYO7A occur frequently in motor and MyTH4 domains. Audiological differences among individuals correspond to specific domains which contain the variants. Therefore, appropriate rehabilitation is needed, particularly for patients with late-onset familial hearing loss.

Neural recovery function of the auditory nerve in cochlear implant surgery: Comparison between different regions of the cochlea.

INTRODUCTION: Cochlear implants allow measures of neural function, through Neural response telemetry (NRT) and Auditory nerve recovery function (REC). These help in programming the speech processor and understanding the auditory system. However, not many studies have evaluated and compared these in different regions of the cochlea. OBJECTIVE: Comparing NRT and REC in different regions of the cochlea. METHODS: Cross-sectional, descriptive and prospective. NRT and REC (through the function of T0 - absolute refractory period, A - amplitude and TAU - time constant of the relative refractory period parameters) were evaluated, in three groups according to the stimulated electrode of the cochlea: apical, medial and basal. RESULTS: 26 adult patients were evaluated, 2 bilateral, totalling 28 ears. Data analysis showed no statistically significant difference between NRT between medial and basal but showed between apical and medial and apical and basal. For T0, there was a significant difference between medial and basal; for A, there was a significant difference between apical and basal and also medial and basal; and for TAU, there was no significant difference. CONCLUSION: There was a statistically significant difference in NRT and REC when compared between different regions of the cochlea.

Acoustic Voice Analysis in Postlingual Deaf Adult Cochlear Implant Users: A Within-Group Comparison Study.

OBJECTIVES: Cochlear implantation (CI) improves the quality of voice and speech output. However, there are various factors that may interfere with the use of CI to accede desirable voice outcomes. The primary aim of the current study was first to measure three acoustic voice outcomes in postlingual deaf adult CI users who were Persian-speaking, and then, to compare these according to surgery- and auditory-related factors. Of interest was also to determine whether these acoustic measures were influenced by surgery- and auditory-related factors. METHODS: A number of 113 postlingual deaf adults with CI were recruited. The voice samples were recorded in the same silent room to equalize the noise of the environment. The measures of interest were analyzed with the Praat software. RESULTS: Our findings revealed that time duration of CI use (P ≤ 0.008), pattern of deafness onset (P ≤ 0.011), and the interaction between them (P ≤ 0.022) significantly affected all vocal parameters. This means that the quality of voice was significantly better in the participants using CI for more than 2 years than in those using CIs for less than 2 years. On the other hand, patients suffering sudden postlingual deafness for less than 2 years had the best acoustic voice parameters compared with those suffering gradual postlingual deafness for more than 2 years. CONCLUSIONS: Some of the surgery- and auditory-related factors could be the reason for changes of voice parameters in postlingual deaf adult CI users.

A novel MYH9 mutation related to non-syndromic delayed post-lingual sensorineural hearing loss.

OBJECTIVE: Hearing loss (HL) is the most common sensory organ dysfunction disease. The cause is often complex, though genetics are the main factor. METHODS: In this study, we investigated a Chinese family with non-syndromic delayed post-lingual deafness. Comprehensive data collection was performed on this family's members, including basic information, audiological examinations, blood system examinations and imaging examinations. A pedigree diagram was drawn and the genetic patterns were analyzed. RESULTS: A new gene mutation, c.314A>T:p.Y105F in the MYH9 exon, was confirmed by next generation sequencing and Sanger sequencing. This mutation co-segregated with the phenotype in the pedigree. Patients in this family present bilateral symmetry and gradual and delayed high-frequency sensorineural hearing loss. The age of onset was approximately 30 years old. Except for hearing loss, no lesions were seen in other organs, especially the blood system. CONCLUSION: The identification and detection of a novel MYH9 mutation may be of great significance to provide the basis for gene function research and genetic consultation.

A Cepstral Peak Prominence (CPP) Voice Analysis in Iranian Post-lingual Deaf Adult Cochlear Implant Users.

OBJECTIVE: In standardized connected speech samples, cepstral peak prominence (CPP) and smoothed CPP (CPPS) have been described as accurate parameters to evaluate voice quality. Lack of normal auditory feedback in post-lingually deaf CI users might influence tuning the acoustic parameters in speech production. Based on shreds of evidence, normal hearing results in suitable vocal control through the sensory-motor linkage. The main aim of the present study was to compare the cepstral values between the Iranian cochlear implant group and normal peers. METHOD: Persian CAPE-V sentences were recorded from 30 CI users and 30 healthy speakers (mean age=36.7 years, SD=13.5, range=18-60 years). Thirteen /a/vowels were extracted manually from syllables. Each subject phonated sustained /a/vowel for 5 seconds. PRAAT was used to calculate CPP and CPPS. To compare two age- and gender-matched groups, the independent sample t-test was applied. Then, ANCOVA was used to assess the impact of demographic factors on cepstral scores in CI participants. RESULTS: Significant differences between the CI group and normal peers were discovered based on CPP and CPPS in both tasks (reading sentences and sustained vowel) (P < 0.05). Overall, CI users showed higher cepstral values. The implanted ear and prosthesis model had no significant impact on both CPP and CPPS (P ≥ 0.8). CONCLUSION: Higher CPP and CPPS values in the CI users might be due to increased phonatory instability and spectral noise, with the possibility of decreased vocal control and its quality. The outcome suggests that CI group uses a different voice control strategy. These findings should be kept in mind for intervention methods, especially by assessing vocal characteristics and considering the voice quality in adult CI users.

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.

Variants in MYH14 are reported to cause autosomal dominant nonsyndromic hereditary hearing loss (ADNSHL), with 34 variants reported to cause hearing loss in various ethnic groups. However, the available information on prevalence, as well as with regard to clinical features, remains fragmentary. In this study, genetic screening for MYH14 variants was carried out using a large series of Japanese hearing-loss patients to reveal more detailed information. Massively parallel DNA sequencing of 68 target candidate genes was applied in 8074 unrelated Japanese hearing-loss patients (including 1336 with ADNSHL) to identify genomic variations responsible for hearing loss. We identified 11 families with 10 variants. The prevalence was found to be 0.14% (11/8074) among all hearing-loss patients and 0.82% (11/1336) among ADNSHL patients. Nine of the eleven variants identified were novel. The patients typically showed late-onset hearing loss arising later than 20 years of age (64.3%, 9/14) along with progressive (92.3%, 12/13), moderate (62.5%, 10/16), and flat-type hearing loss (68.8%, 11/16). We also confirmed progressive hearing loss in serial audiograms. The clinical information revealed by the present study will contribute to further diagnosis and management of MYH14-associated hearing loss.

Cochlear implantation in post-lingual adults: A 25-year experience at King Abdullah Ear Specialist Center, Riyadh, Saudi Arabia.

OBJECTIVES: To demonstrate the efficacy of cochlear implants (CI) in post-lingual adults, including surgical and auditory outcomes based on a 25-year experience at a tertiary referral hospital. METHODS: This study was a retrospective, descriptive chart review of post-lingual adults, aged ≥18 years, implanted at King Abdullah Ear Specialist Center (KAESC), Kingdom of Saudi Arabia (KSA), between September 1994 and March 2020. The study included 176 cochlear implantations performed in 144 patients. Data retrieval included patient demographics, clinical evaluation, operative details, postoperative course, and audiological evaluation parameters. The main outcome measures were surgical procedures, including techniques and complication rates, and audiological parameters as evaluated by pure tone audiometry average (PTA), speech reception threshold (SRT), and word recognition score (WRS). Student's t-test and Chi-square tests were used for statistical analysis and a p-value<0.05 was considered significant. RESULTS: Pure tone audiometry average, SRT, and WRS improved significantly after CI. Overall, major complications occurred in 3 patients. One patient underwent CI ex-planation for severe pain, and 2 had device malfunctioning. Other minor complaints were reported in 18% of the patients. CONCLUSION: Cochlear implants performed, in our institute, on post-lingual adults resulted in significant improvements in auditory performance, including PTA, SRT, and WRS values with low complication rates.

Posttraumatic Growth in Postlingually Deaf Patients With Cochlear Implants: The Effect of Stress-Coping Strategies, Sociodemographics, and Deafness-Related Factors.

The aim of this study was to assess whether cochlear implant (CI) users who had been postlingually deaf developed a more positive outlook on life-the so-called posttraumatic growth (PTG)-as a result of their disability and to examine how PTG related to their stress-coping strategies and personal circumstances. The study group consisted of 119 postlingually deaf CI users. The participants were asked to anonymously fill in several questionnaires: the Post-Traumatic Growth Inventory (PTGI), Coping Orientations to Problems Experienced (Brief COPE), and a form asking for personal details and factors related to their deafness and CI use. The PTG of postlingually deaf CI users was similar to that found in people with other severe health problems. The time that had elapsed since the hearing was lost and the time from receiving a CI were positively correlated with PTG. The level of PTG was correlated with the particular coping strategies used and differed between men and women. We found that the development of PTG could emerge from both approach-oriented coping strategies (e.g., active coping and planning) and avoidance-oriented coping strategies (e.g., denial, self-distraction, and self-blame). Paradoxically, the avoidance strategies could play a positive role in the development of PTG. This reinforces the idea, previously raised in the PTG literature, that such strategies exert a defensive and protective function-an "illusory" side of PTG-which operates together with the positive constructive side, and both help develop the sense of well-being of a person.

Frontotemporal activation differs between perception of simulated cochlear implant speech and speech in background noise: An image-based fNIRS study.

In this study we used functional near-infrared spectroscopy (fNIRS) to investigate neural responses in normal-hearing adults as a function of speech recognition accuracy, intelligibility of the speech stimulus, and the manner in which speech is distorted. Participants listened to sentences and reported aloud what they heard. Speech quality was distorted artificially by vocoding (simulated cochlear implant speech) or naturally by adding background noise. Each type of distortion included high and low-intelligibility conditions. Sentences in quiet were used as baseline comparison. fNIRS data were analyzed using a newly developed image reconstruction approach. First, elevated cortical responses in the middle temporal gyrus (MTG) and middle frontal gyrus (MFG) were associated with speech recognition during the low-intelligibility conditions. Second, activation in the MTG was associated with recognition of vocoded speech with low intelligibility, whereas MFG activity was largely driven by recognition of speech in background noise, suggesting that the cortical response varies as a function of distortion type. Lastly, an accuracy effect in the MFG demonstrated significantly higher activation during correct perception relative to incorrect perception of speech. These results suggest that normal-hearing adults (i.e., untrained listeners of vocoded stimuli) do not exploit the same attentional mechanisms of the frontal cortex used to resolve naturally degraded speech and may instead rely on segmental and phonetic analyses in the temporal lobe to discriminate vocoded speech.