Janaina Patricio de Lima, Raquel Manrique-Huarte, Sol Ferran, Francisca Mallmann, Diego Calavia Gil, Belén Andueza Barrenechea, Alicia Huarte, Maria Antonia Gallego Madrid, Manuel Manrique
{"title":"Hearing and Balance in Healthy Aging Project: Characterization of Hearing, Balance, and Other Associated Disorders in Three Population Groups Aged 55 and Over.","authors":"Janaina Patricio de Lima, Raquel Manrique-Huarte, Sol Ferran, Francisca Mallmann, Diego Calavia Gil, Belén Andueza Barrenechea, Alicia Huarte, Maria Antonia Gallego Madrid, Manuel Manrique","doi":"10.1159/000536531","DOIUrl":"10.1159/000536531","url":null,"abstract":"<p><strong>Introduction: </strong>Active aging emphasizes optimizing health and participation for a better quality of life as people age. This paper explores the significant impact of hearing loss and balance disorders on the elderly. Age-related hearing loss is thought to contribute to communication breakdown and cognitive dysfunctions. The \"hearing and balance in healthy aging\" project focuses on early detection, mitigation, and advocacy. Objectives include exploring epidemiological traits, evaluating overall well-being impact, proving positive intervention effects, and advocating societal care for the elderly with hearing loss and balance disorders, aiming to reduce their broader impact on cognition, independence, and sociability.</p><p><strong>Methods: </strong>This study is observational, prospective study. Subjects over 55 years old with a follow-up every year or every 2 years were divided into three groups, according to their hearing and balance: within the normal range (group A), detected and not treated (group B), and detected and treated (group C). At each visit, they underwent a series of tests or questionnaires, evaluating different areas: hearing, balance, cognition, depression, dependence, tinnitus, loneliness, health.</p><p><strong>Results: </strong>A total of 710 patients were included in the study. The distribution of patients was as follows: group A - 210 patients, group B - 302 patients, and group C - 198 patients. Significant differences were found between the three groups related to age, sex, educational level, bilingualism, and work activity. In group C, there was a higher percentage of males, older than in groups A and B, and the percentage of individuals with a university education was lower (28%), as was the rate of bilingualism (23%). In terms of hearing, significant differences were found in the three groups in the mean PTA, speech discrimination in quiet, and the HINT test, with worse results for group C. Only patients in group C presented a perception of hearing impairment, and the handicap caused by hearing impairment worsened from group A to C. Concerning balance, both tests performed (TuGT and DHI) revealed increased difficulty in maintaining autonomous walking from group A to C, which, again, exhibited the worst results, with statistically significant differences across the group. Analysis about cognition revealed significant differences in DSST questionnaires and in TMT scores, where group C had the worst scores. In HUI3 questionnaire scores, the differences between each and every group were statistically significant, with group C showing moderate disability.</p><p><strong>Conclusion: </strong>This extensive analysis, encompassing a considerable number of subjects, reveals significant findings that have important implications for the early prevention of hearing loss and its consequent consequences. At the same time, these data represent an initial exploration, which raises the need for in-depth examinations of ad","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"306-321"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evaluation of the Vestibulo-Ocular Reflex Using the Video Head Impulse Test in Patients with Unilateral Chronic Otitis Media.","authors":"Gi-Sung Nam, Seunghyun Han, Sung Il Cho","doi":"10.1159/000538254","DOIUrl":"10.1159/000538254","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to evaluate the vestibulo-ocular reflex (VOR) using the video head impulse test (vHIT) as a vestibular function assessment method in patients with unilateral chronic otitis media (COM).</p><p><strong>Methods: </strong>Twenty-eight patients with unilateral COM scheduled for middle ear surgery, including 12 males and 16 females with a mean age of 54.5 years, successfully underwent preoperative vHIT. vHIT variables, including VOR gain, VOR gain asymmetry, and the incidence of corrective saccades, were compared between the ipsilesional and contralesional ears.</p><p><strong>Results: </strong>Ten (35.7%) patients reported varying degrees of disequilibrium or lightheadedness. The VOR gain in the ipsilesional and contralesional ears was 1.01 ± 0.10 and 1.04 ± 0.11, 0.97 ± 0.12 and 0.94 ± 0.13, and 0.97 ± 0.13 and 1.04 ± 0.15 in the horizontal canal (HC), anterior canal, and posterior canal (PC), respectively. The average VOR gains in the ipsilesional ears were within the predefined range of normal values; however, the gains in HC and PC significantly decreased compared with those in contralesional ears (p = 0.038 in HC and p = 0.015 in PC). The prevalence of corrective saccades, including overt and/or covert saccades, did not differ significantly between the two ears.</p><p><strong>Conclusion: </strong>This study assessed the pathophysiology of the inner ear affected by chronic middle ear infection by quantitatively comparing the VOR using vHIT. It demonstrated that vHIT can be a practical assessment of vestibular function in patients with COM.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"351-356"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140061409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marte Myhrum, Mariann Gjervik Heldahl, Arne Kirkhorn Rødvik, Ole Edvard Tvete, Greg Eigner Jablonski
{"title":"Validation of the Norwegian Version of the Speech, Spatial and Qualities of Hearing Scale (SSQ).","authors":"Marte Myhrum, Mariann Gjervik Heldahl, Arne Kirkhorn Rødvik, Ole Edvard Tvete, Greg Eigner Jablonski","doi":"10.1159/000534197","DOIUrl":"10.1159/000534197","url":null,"abstract":"<p><strong>Introduction: </strong>The main objective of the study was to validate the Norwegian translation of the Speech, Spatial and Qualities of Hearing Scale (SSQ) and investigate the SSQ disability profiles in a cochlear implant (CI) user population.</p><p><strong>Methods: </strong>The study involved 152 adult CI users. The mean age at implantation was 55 (standard deviation [SD] = 16), and the mean CI experience was 5 years (SD = 4.8). The cohort was split into three groups depending on the hearing modality: bilateral CIs (BCIs), a unilateral CI (UCI), and bimodal (CI plus contralateral hearing aid; HCI). The SSQ disability profiles of each group were compared with those observed in similar studies using the English version and other translations of the SSQ. Standard values, internal consistency, sensitivity, and floor and ceiling effects were investigated, and the missing-response rates to specific questions were calculated. Relationships to speech perception were measured using monosyllabic word scores and the Norwegian Hearing in Noise Test scores.</p><p><strong>Results: </strong>In the BCI group, the average scores were around 5.0 for the speech and spatial sections and 7.0 for the qualities section (SD ∼2). The average scores of the UCI and HCI groups were about one point lower than those of the BCI group. The SSQ disability profiles were comparable to the profiles in similar studies. The slopes of the linear regression lines measuring the relationships between the SSQ speech and monosyllabic word scores were 0.8 per 10% increase in the monosyllabic word score for the BCI group (explaining 35% of the variation) and 0.4 for the UCI and HCI groups (explaining 22-23% of the variation).</p><p><strong>Conclusion: </strong>The Norwegian version of the SSQ measures hearing disability similar to the original English version, and the internal consistency is good. Differences in the recipients' pre-implantation variables could explain some variations we observed in the SSQ responses, and such predictors should be investigated. Data aggregation will be possible using the SSQ as a routine clinical assessment in global CI populations. Moreover, pre-implantation variables should be systematically registered so that they can be used in mixed-effects models.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"124-135"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10994583/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nienke Cornelia Langerak, Hendrik Christiaan Stronks, Jeroen Johannes Briaire, Johan Hubertus Maria Frijns
{"title":"The Benefit of Bimodal Hearing and Beamforming for Cochlear Implant Users.","authors":"Nienke Cornelia Langerak, Hendrik Christiaan Stronks, Jeroen Johannes Briaire, Johan Hubertus Maria Frijns","doi":"10.1159/000536431","DOIUrl":"10.1159/000536431","url":null,"abstract":"<p><strong>Introduction: </strong>Cochlear implantation is the standard treatment for severe to profound hearing loss. While cochlear implant (CI) users can communicate effectively in quiet environments, speech understanding in noise remains challenging. Bimodal hearing, combining a CI in one ear and a hearing aid (HA) in the other, has shown advantages over unilateral electrical hearing, especially for speech understanding in noisy conditions. Beamforming is a technique used to improve speech understanding in noise by detecting sound direction and enhancing frontal (speech) sounds while attenuating background noise. One specific beamformer, Stereozoom, combines signals from microphones in both ears to create a focused beam toward the front resulting in a binaural beamformer (BB), in order to improve speech intelligibility in noise for bilateral and bimodal CI users.</p><p><strong>Methods: </strong>A prospective crossover study involving 17 bimodal CI users was conducted, and participants were tested with various device configurations (CI, HA, CI + HA) with and without BB. Speech recognition testing with the Dutch/Flemish matrix test was performed in a sound-attenuated booth with diffuse noise to simulate realistic listening conditions.</p><p><strong>Results: </strong>The results showed a statistically significant benefit of bimodal hearing over the CI configuration and showed a statistical significant benefit of BB for the CI and CI + HA configuration. The benefit of BB in the HA configuration was not statistically significant probably due to the higher variance. The benefit of BB in the three configurations did not differ statistically significant.</p><p><strong>Conclusion: </strong>In conclusion, bimodal hearing offers advantages for speech understanding in noise for CI users. BB provides a benefit in various device configurations, leading to improved speech intelligibility when speech comes from the front in challenging listening environments.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"297-305"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11309062/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140051128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Comparison of the Audiological Knowledge of Three Chatbots: ChatGPT, Bing Chat, and Bard.","authors":"W Wiktor Jedrzejczak, Krzysztof Kochanek","doi":"10.1159/000538983","DOIUrl":"10.1159/000538983","url":null,"abstract":"<p><strong>Introduction: </strong>The purpose of this study was to evaluate three chatbots - OpenAI ChatGPT, Microsoft Bing Chat (currently Copilot), and Google Bard (currently Gemini) - in terms of their responses to a defined set of audiological questions.</p><p><strong>Methods: </strong>Each chatbot was presented with the same 10 questions. The authors rated the responses on a Likert scale ranging from 1 to 5. Additional features, such as the number of inaccuracies or errors and the provision of references, were also examined.</p><p><strong>Results: </strong>Most responses given by all three chatbots were rated as satisfactory or better. However, all chatbots generated at least a few errors or inaccuracies. ChatGPT achieved the highest overall score, while Bard was the worst. Bard was also the only chatbot unable to provide a response to one of the questions. ChatGPT was the only chatbot that did not provide information about its sources.</p><p><strong>Conclusions: </strong>Chatbots are an intriguing tool that can be used to access basic information in a specialized area like audiology. Nevertheless, one needs to be careful, as correct information is not infrequently mixed in with errors that are hard to pick up unless the user is well versed in the field.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"457-463"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"COVID-19 and Vestibular Symptoms and Assessment: A Review.","authors":"Cristian Aedo-Sánchez, Gabriela Gutiérrez, Enzo Aguilar-Vidal","doi":"10.1159/000533448","DOIUrl":"10.1159/000533448","url":null,"abstract":"<p><strong>Background: </strong>The current pandemic of COVID-19, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has resulted in significant morbidity and mortality primarily associated with respiratory failure. However, it has also been reported that COVID-19 can evolve into a nervous system infection. The direct and indirect mechanisms of damage associated with SARS-CoV-2 neuropathogenesis could affect our sensory functionality, including hearing and balance.</p><p><strong>Summary: </strong>In order to investigate a possible association between SARS-CoV-2 viral infection and possible damage to the vestibular system, this review describes the main findings related to diagnosing and evaluating otoneurological pathologies.</p><p><strong>Key messages: </strong>The clinical evidence shows that SARS-CoV-2 causes acute damage to the vestibular system that would not leave significant sequelae. Recovery is similar to vestibular pathologies such as vestibular neuronitis and benign paroxysmal positional vertigo. Further basic science, clinical, and translational research is needed to verify and understand the short- and long-term effects of COVID-19 on vestibular function.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"81-87"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11412481/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10232815","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Analysis of Loudness Discomfort Level Tests in Tinnitus Patients.","authors":"Seung-Ho Shin, Sung Wan Byun, Ho Yun Lee","doi":"10.1159/000538128","DOIUrl":"10.1159/000538128","url":null,"abstract":"<p><strong>Introduction: </strong>We aimed to investigate the clinical significance of the loudness discomfort level (LDL) test in tinnitus patients and its relationship with pure-tone audiometry, tinnitogram, and questionnaires.</p><p><strong>Methods: </strong>We retrospectively reviewed the medical records of 320 tinnitus patients who visited a tertiary university hospital's tinnitus clinic and completed LDL tests between March 2020 and December 2022. Epidemiological data and psychoacoustic test results were collected.</p><p><strong>Results: </strong>The LDL showed no significant differences between frequencies for both ears. The mean LDL did not correlate with mean pure-tone average or hearing thresholds at each frequency. The hearing loss group had a higher LDL at 8 kHz compared to the normal hearing group (p < 0.01). Objective sound intolerance was found in a quarter, correlating with subjective hyperacusis, anxiety, and depression. Weak negative correlations were found between most of questionnaire's scores and LDL on the left side. Tinnitus loudness weak negatively correlated with LDL at most frequencies, except 8 kHz.</p><p><strong>Discussion/conclusion: </strong>Our findings suggest a notable association between LDL levels and emotional factors in tinnitus patients, rather than with auditory thresholds. While lateralized differences in LDL responses were observed, specifically on the left side, these preliminary results do not confirm a causal link and thus do not warrant changes to current clinical testing protocols without further research.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"367-373"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Alexandra Annemarie Ludwig, Sylvia Meuret, Rolf-Dieter Battmer, Michael Fuchs, Arneborg Ernst, Marc Schönwiesner
{"title":"Auditory Spatial Discrimination and Sound Localization in Single-Sided Deaf Participants Provided with a Cochlear Implant.","authors":"Alexandra Annemarie Ludwig, Sylvia Meuret, Rolf-Dieter Battmer, Michael Fuchs, Arneborg Ernst, Marc Schönwiesner","doi":"10.1159/000534686","DOIUrl":"10.1159/000534686","url":null,"abstract":"<p><strong>Introduction: </strong>Spatial hearing is most accurate using both ears, but accuracy decreases in persons with asymmetrical hearing between ears. In participants with deafness in one ear but normal hearing in the other ear (single-sided deafness [SSD]), this difference can be compensated by a unilateral cochlear implant (CI). It has been shown that a CI can restore sound localization performance, but it is still unclear to what extent auditory spatial discrimination can be improved.</p><p><strong>Methods: </strong>The present study investigated auditory spatial discrimination using minimum audible angles (MAAs) in 18 CI-SSD participants. Results were compared to 120 age-matched normal-hearing (NH) listeners. Low-frequency (LF) and high-frequency (HF) noise bursts were presented from 4°, 30°, and 60° azimuth on the CI side and on the NH side. MAA thresholds were tested for correlation with localization performance in the same participants.</p><p><strong>Results: </strong>There were eight good performers and ten poor performers. There were more poor performers for LF signals than for HF signals. Performance on the CI side was comparable to performance on the NH side. Most difficulties occurred at 4° and at 30°. Eight of the good performers in the localization task were also good performers in the MAA task. Only the localization ability at 4° on the CI side was positively correlated with the MAA at that location.</p><p><strong>Conclusion: </strong>Our data suggest that a CI can restore localization ability but not necessarily auditory spatial discrimination at the same time. The ability to discriminate between adjacent locations may be trainable during rehabilitation to enhance important auditory skills.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"193-206"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11152034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138479359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Effect of Time-Restricted Feeding on Postural Balance: From a Vestibular Perspective.","authors":"Aysun Parlak Kocabay, Eser Sendesen, Öznur Yiğit","doi":"10.1159/000537910","DOIUrl":"10.1159/000537910","url":null,"abstract":"<p><strong>Introduction: </strong>The aims of the present study were to evaluate postural balance performance of the subjects on the time-restricted feeding (TRF) and reveal the effect of TRF on the vestibular system by comparing the results to those of traditional daily dietary (DD) condition.</p><p><strong>Methods: </strong>Sixteen adults (3 males, 13 females; mean age: 25.4 ± 4 years) who had experienced at least 1 month of TRF were included in the study. The Sensory Organization Test (SOT) and Head-Shake SOT (HS-SOT) - which evaluate proprioceptive, visual, and vestibular systems - were performed on TRF and DD conditions via the Computerized Dynamic Posturography system.</p><p><strong>Results: </strong>Significant differences were obtained between TRF and DD situations in SOT-5 (p = 0.008), SOT-6 (p = 0.01), and HS-SOT5 (p = 0.007) conditions in which the vestibular system dominated.</p><p><strong>Conclusion: </strong>We revealed that TRF has an effect on postural balance in the absence of proprioceptive and visual systems. This feeding model is a negative stressor that has a substantial effect on the vestibular system, but this impact is minimal once the proprioceptive and visual systems are intact. To the best of our knowledge, it is the first study to evaluate postural balance utilizing vestibular parameters in TRF.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"334-339"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139906966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Khawla El Fizazi, Meriame Abbassi, Samira Nmer, Hajar Laamarti, Mohamed Noureddine ElAlami, Karim Ouldim, Laila Bouguenouch, Mohammed Ridal
{"title":"Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.","authors":"Khawla El Fizazi, Meriame Abbassi, Samira Nmer, Hajar Laamarti, Mohamed Noureddine ElAlami, Karim Ouldim, Laila Bouguenouch, Mohammed Ridal","doi":"10.1159/000535346","DOIUrl":"10.1159/000535346","url":null,"abstract":"<p><strong>Introduction: </strong>Despite the high genetic heterogeneity of hearing loss, mutations in the GJB2 gene are a major cause of autosomal recessive nonsyndromic hearing loss (NSHL) worldwide. However, the mutation profile of GJB2 in NSHL is under-investigated in Morocco, especially among simplex cases. This study aimed to identify the spectrum and frequency of GJB2 mutations in the Moroccan population among simplex and multiplex families with NSHL.</p><p><strong>Methods: </strong>Moroccan families with NSHL were selected according to well-defined criteria. Selected families were screened for GJB2 gene variants using direct sequencing of the entire coding region of GJB2.</p><p><strong>Results: </strong>A total of 145 affected individuals from 115 families with NSHL were included in this study (49 simplex, 66 multiplex). Mutations in the GJB2 gene were noted in 28.69% of the families (33/115), of which 75.75% were multiplex families and 24.24% were simplex. In total, seven different mutations were detected: c.35delG(p.G12fs), c.551G>A(p.R184Q), c.139G>T(p.E47X), c.109G>A(p.V37I), c.167delT(p.L56fs), c.617A>G(p.N206S), c.94C>T(p.R32C). The last three mutations have not previously been reported in Morocco. The most common GJB2 mutation was c.35delG (21.73%), followed by p.V37I (2.60%) and p.E47X (1.73%).</p><p><strong>Conclusions: </strong>Our study confirms a high prevalence of GJB2 variants in the Moroccan population, particularly the c.35delG mutation. Additionally, we have identified previously unreported or rarely reported mutations, revealing a greater diversity of GJB2 mutations. These findings emphasize the importance of comprehensive screening beyond the 35delG mutation for patients with NSHL, regardless of their family history. Integrating this approach into clinical care will enhance diagnosis and management of hearing loss in the Moroccan population.</p>","PeriodicalId":55432,"journal":{"name":"Audiology and Neuro-Otology","volume":" ","pages":"216-223"},"PeriodicalIF":1.6,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139522301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}