Audiology Research最新文献

{"title":"Evaluating Parenting Stress and Identifying Influential Factors in Caregivers of Deaf and Hard-of-Hearing Children.","authors":"Yuan Chen, Xiaoli Shen, Chengao Lyu","doi":"10.3390/audiolres15050120","DOIUrl":"10.3390/audiolres15050120","url":null,"abstract":"<p><p>Parenting stress significantly affects caregivers of deaf and hard-of-hearing (DHH) children, influenced by unique challenges and stressors. <b>Background/Objectives</b>: This study aims to develop the Chinese Family Stress Scale (CFSS) and to identify the stressors and contributing factors to elevated stress levels. <b>Methods</b>: The study involved 257 caregivers of DHH children aged 0-12 years old. The CFSS was used to assess parenting stress in caregivers of DHH children, with its reliability and validity evaluated. Factors such as speech intelligibility, oral language use, self-compassion, and social support were examined for their impact on parenting stress. <b>Results</b>: Key stressors included financial issues, discipline, education concerns, medical care, and safety. Elevated parenting stress was significantly associated with poor speech intelligibility of the child, inadequate oral language use, negative aspects of self-compassion, and insufficient social support. The CFSS showed good reliability and validity in measuring parenting stress among caregivers of DHH children. <b>Conclusions</b>: The CFSS is an effective tool for assessing parenting stress in caregivers of DHH children. Interventions to reduce parenting stress can focus on improving children's communication skills, enhancing caregiver self-compassion, and bolstering social support networks.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Auditory Processing and Speech Sound Disorders: Behavioral and Electrophysiological Findings.","authors":"Konstantinos Drosos, Paris Vogazianos, Dionysios Tafiadis, Louiza Voniati, Alexandra Papanicolaou, Klea Panayidou, Chryssoula Thodi","doi":"10.3390/audiolres15050119","DOIUrl":"10.3390/audiolres15050119","url":null,"abstract":"<p><p><b>Background:</b> Children diagnosed with Speech Sound Disorders (SSDs) encounter difficulties in speech perception, especially when listening in the presence of background noise. Recommended protocols for auditory processing evaluation include behavioral linguistic and speech processing tests, as well as objective electrophysiological measures. The present study compared the auditory processing profiles of children with SSD and typically developing (TD) children using a battery of behavioral language and auditory tests combined with auditory evoked responses. <b>Methods:</b> Forty (40) parents of 7-10 years old Greek Cypriot children completed parent questionnaires related to their children's listening; their children completed an assessment comprising language, phonology, auditory processing, and auditory evoked responses. The experimental group included 24 children with a history of SSDs; the control group consisted of 16 TD children. <b>Results:</b> Three factors significantly differentiated SSD from TD children: Factor 1 (auditory processing screening), Factor 5 (phonological awareness), and Factor 13 (Auditory Brainstem Response-ABR wave V latency). Among these, Factor 1 consistently predicted SSD classification both independently and in combined models, indicating strong ecological and diagnostic relevance. This predictive power suggests real-world listening behaviors are central to SSD differentiation. The significant correlation between Factor 5 and Factor 13 may suggest an interaction between auditory processing at the brainstem level and higher-order phonological manipulation. <b>Conclusions:</b> This research underscores the diagnostic significance of integrating behavioral and physiological metrics through dimensional and predictive methodologies. Factor 1, which focuses on authentic listening environments, was identified as the strongest predictor. These results advocate for the inclusion of ecologically valid listening items in the screening for APD. Poor discrimination of speech in noise imposes discrepancies between incoming auditory information and retained phonological representations, which disrupts the implicit processing mechanisms that align auditory input with phonological representations stored in memory. Speech and language pathologists can incorporate pertinent auditory processing assessment findings to identify potential language-processing challenges and formulate more effective therapeutic intervention strategies.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a Novel Algorithm for Tip Fold-Over Detection in Cochlear Implants and Evaluation on Bench and Multiple Clinical Data Bases.","authors":"Mehrangiz Ashiri, Tony Spahr, Azret Botash, Ashish Mehta, Jordan J Varghese, Craig A Buchman, Andrea J DeFreese, Patrick Boyle, Matthew Miller, Syed F Ahsan, Christopher Danner, Kyle P Allen, Loren Bartels, Kanthaiah Koka","doi":"10.3390/audiolres15050118","DOIUrl":"10.3390/audiolres15050118","url":null,"abstract":"<p><p><b>Objectives:</b> Tip fold-over (TFO) is a rare but critical occurrence in cochlear implant procedures where the electrode array folds back on itself within the cochlea, compromising programming and device performance. Timely intraoperative detection is essential for immediate correction and optimal placement. Electric field imaging (EFI) has shown promise for identifying TFO both intra- and post-operatively. This study evaluates the performance of a TFO detection algorithm implemented in Target CI (Version 1.6) using Advanced Bionics' cochlear implant systems, validated through bench and patient datasets. <b>Methods:</b> Sample data included (1) bench testing with a plastic cochlea and human temporal bones with and without induced TFOs, confirmed visually or radiographically; (2) intraoperative EFI measurements recorded using the AIM™ system, with electrode placement confirmed through imaging; and (3) historical EFI recordings from the Target CI DataLake, which lacks imaging and programming metadata. The TFO algorithm's performance was evaluated by assessing its sensitivity and specificity using these datasets. <b>Results:</b> The TFO algorithm achieved 100% sensitivity and specificity in bench models and intraoperative EFI with imaging-confirmed placements. Among 226 intra-op cases, four TFOs were confirmed by imaging, and all were correctly identified by the algorithm. In the large set of DataLake cases (14,734 implants), 0.80% were flagged as potential TFOs. TFO prevalence was higher with pre-curved arrays (1.22%) than straight lateral wall arrays (0.32%). <b>Conclusions:</b> The TFO algorithm showed high reliability with 100% sensitivity and specificity using routine clinical EFI data. While not a replacement for imaging, the TFO algorithm serves as a fast, accessible tool to alert clinicians to potential TFOs.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452681/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Simplified Matrix Sentence Test for Pediatric Cochlear Implant Fitting: Single Institution Experience.","authors":"Giulia Parolin, Carmela Morizzi, Nader Nassif, Maria Grazia Barezzani, Luca Oscar Redaelli de Zinis","doi":"10.3390/audiolres15050117","DOIUrl":"10.3390/audiolres15050117","url":null,"abstract":"<p><p><b>Background/Objectives</b>: The Matrix Sentence Test is an audiological evaluation that quantifies the signal-to-noise ratio, expressed in decibels, at which the patient comprehends 50% of the words of a random sentence heard in noise. It is an effective and reliable tool for cochlear implant fitting and follow-up in both adults and children, demonstrating reliability upon repeated administration. A simplified model of the Matrix Sentence Test can be used in children. This study had two main objectives: first, to evaluate the Simplified Matrix Sentence Test for objectively estimating post-fitting CI performance; and second, to assess the influence of various demographic and device-related variables on the results. The variables of interest included gender, manufacturer, placement, microphone position, array position, score in pre-fitting speech audiometry in quiet, age at first implantation, age at test administration, and the interval between the first implant and the test administration. <b>Methods</b>: A retrospective study of pediatric patients with cochlear implants was performed. The inclusion criteria were patients aged 7-18 years, with a minimum of two years of cochlear implantation, adequate Italian language proficiency, and regular follow-up attendance. The subjects were administered the Simplified Matrix Sentence Test prior to and following map fitting by an experienced audiologist. <b>Results</b>: The study's sample population included 51 patients who met the established inclusion criteria, with an average age of 13 years. In the preliminary SiIMax test, the average SNR for 50% sentence comprehension in noise was -0.83 ± 1.86 dB. Map adjustments included reductions or increases in comfort and threshold levels, modifications to multiple electrodes, or minor secondary changes. Approximately two days later, the second Simplified Matrix Sentence Test was administered. The average signal-to-noise for sentence comprehension was -2.05 ± 1.73 dB. Univariate and multivariate analyses revealed that no variable had a statistically significant impact on the results. <b>Conclusions</b>: The Simplified Matrix Sentence Test demonstrated universal applicability in compliant patients. Post-implant improvement appeared independent of patient demographics and device variables.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying Hearing Loss and Audiological Rehabilitation Candidacy Through Self-Perceived Hearing Handicap Using the Croatian Version of the Hearing Handicap Inventory for the Elderly-Screening (HHIE-S-CRO).","authors":"Luka Bonetti, Ana Bonetti, Tea Krišto","doi":"10.3390/audiolres15050116","DOIUrl":"10.3390/audiolres15050116","url":null,"abstract":"<p><p><b>Background/Objectives:</b> This study aimed to: (1) evaluate the effectiveness of the Croatian version of the Hearing Handicap Inventory for the Elderly-Screening Version (HHIE-S-CRO) in screening for hearing loss greater than 20 dB HL in the better-hearing ear among adults aged ≥ 60 years; (2) assess its utility in identifying individuals with hearing loss ≥ 40 dB HL in the better-hearing ear, meeting current Croatian eligibility criteria for state-funded hearing aid rehabilitation; and (3) determine whether the emotional and social components of perceived hearing handicap can be meaningfully distinguished. <b>Methods:</b> Validity of the HHIE-S-CRO was analyzed using Spearman's correlation coefficient, the Mann-Whitney test and the factor analysis, while reliability was assessed via Cronbach's alpha and the intraclass correlation coefficient (ICC). Receiver operating characteristic (ROC) curve analysis was calculated to determine sensitivity, specificity, and positive and negative predictive values (PPV and NPV) at various cut-off scores of the HHIE-S-CRO total for specified audiometric criteria (better ear pure-tone average > 20 dB HL and ≥40 dB HL). The nonparametric Wilcoxon Matched Pairs Test was used to compare scores on the emotional and social subscales of the HHIE-S-CRO. <b>Results:</b> The HHIE-S-CRO demonstrated excellent internal consistency (Cronbach's alpha = 0.92) and high repeatability of the results (ICC = 0.92). Discriminant, convergent, construct and predictive validity were confirmed. The area under the curve (AUC) for detecting hearing loss > 20 dB HL in the better ear was 0.95, with a sensitivity of 90.67% and specificity of 94.65% at a cut-off score of 6. For the Croatian threshold for state-supported hearing aid rehabilitation (≥40 dB HL in the better-hearing ear), similarly favorable screening characteristics were found at a cut-off score of 10. <b>Conclusions:</b> Based on these findings, the HHIE-S-CRO appears to offer sufficient sensitivity and specificity to support two key clinical applications: (1) screening for hearing loss > 20 dB HL in individuals aged 60 and older, and (2) identifying individuals within this age group who may be eligible for state-supported hearing aid-based rehabilitation.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Somatosensory Intervention Targeting Temporomandibular Disorders and Awake Bruxism Positively Impacts Subjective Tinnitus.","authors":"Eric Bousema, Pieter U Dijkstra, Pim van Dijk","doi":"10.3390/audiolres15050114","DOIUrl":"10.3390/audiolres15050114","url":null,"abstract":"<p><p><b>Objective:</b> To analyze the effects of a somatosensory education intervention targeting temporomandibular disorders (TMD) and awake bruxism on subjective tinnitus. <b>Methods:</b> This study had a pre-post-design in a primary care practice for orofacial physical therapy. Twenty-eight participants with the presence of TMD and suffering from moderate to severe subjective tinnitus, for at least 3 months, received the following treatments: (a) comprehensive information about tinnitus and the factors influencing it; (b) bruxism reversal training via a smartphone application; and (c) treatment for TMD. The primary outcome was the Tinnitus Functional Index (TFI). Secondary outcomes were awake bruxism frequency and the TMD pain screener. The study was approved by the Ethics Committee of the University of Groningen, the Netherlands. <b>Results:</b> The mean (95% CI) reduction in TFI scores and awake bruxism frequency were 18.4 (13.2-23.5) and 16.6% (2.0-31.2%), respectively. A clinically relevant reduction of 13 points on the TFI was observed in 63% of the participants. Regression analysis revealed that factors associated with TFI change included the TFI initial score at T0 (0.3, 95% CI 0.0-0.6), the presence of daytime clenching (21.0, 95% CI 8.7-33.4), and stiffness or pain around the TMJ (10.6, 95% CI -1.9-23.0) at baseline. <b>Conclusions:</b> The findings suggest that tinnitus education, TMD treatment, combined with decreasing awake bruxism, can reduce tinnitus in a primary care setting.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452508/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Critique of the Stenger Test.","authors":"Andrew Bell, Myriam Westcott, W Wiktor Jedrzejczak","doi":"10.3390/audiolres15050115","DOIUrl":"10.3390/audiolres15050115","url":null,"abstract":"<p><strong>Introduction: </strong>Most audiometers have an in-built \"Stenger test\" setting. The test is sometimes applied in cases of single-sided deafness as an indicator of malingering. Although textbooks have been written about it, the underlying conditions remain enigmatic. The literature usually points to psychological problems, pointing to the patient as having \"nonorganic hearing loss\", \"malingering\", \"false and exaggerated hearing loss\", \"hysterical hearing loss\", or \"pseudohypoacusis\". These are all non-objective features without a sound scientific base, and the test tends to blame the patient for providing non-repeatable hearing thresholds.</p><p><strong>Methods: </strong>This opinion piece looks at the literature surrounding the Stenger test and the factors that might cause hearing threshold variability and concludes that the test has a subjective basis that makes it unscientific. In our opinion, we also think it is ethically questionable to blame the patient for malingering when there are non-repeatable findings. In order to make the test scientifically valid, we frame a testable hypothesis: that the Stenger effect could be due to unrecognised contraction of the middle ear muscles in response to stimulation of the contralateral (worse-hearing) ear. That is, we suppose that bilateral contraction impairs thresholds in both the good and poor ear, so the subject can no longer hear a tone in their good ear which they previously could when their audiogram was established monaurally. Thus, we make the case that the subject is not malingering-they genuinely cannot hear the test tones in either ear.</p><p><strong>Discussion and conclusions: </strong>We believe it is incorrect to blame the patient when the problem may lie with incomplete understanding of how the auditory system functions bilaterally. The test needs to be objectively investigated and perhaps reinterpreted in terms of hearing sensitivity in one ear being reduced by sound levels in the contralateral ear. If this is not possible, we suggest it would be better if the Stenger test were abolished.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of the FLEX 28 Dexamethasone-Eluting Cochlear Implant Electrode in Electric-Acoustic Stimulation: A Case Report.","authors":"Shin-Ichi Usami, Yutaka Takumi, Hidekane Yoshimura, Shin-Ya Nishio","doi":"10.3390/audiolres15050112","DOIUrl":"10.3390/audiolres15050112","url":null,"abstract":"<p><p><b>Background/Objectives</b>: During and after electric-acoustic stimulation (EAS) surgery (as well as regular cochlear implant surgery), the oral and/or intravenous administration of steroids is recommended to prevent acute inflammatory reactions and subsequent fibrosis. However, the effect does not last long. Therefore, with the hope of providing a sustained effect, a new dexamethasone (DEX)-eluting electrode (FLEX28 DEX) has recently been developed. <b>Methods</b>: A case study was performed at Shinshu University in February 2024 in which a DEX-eluting electrode array was utilized for a patient presenting with high-frequency hearing loss with a defined etiology (hearing loss due to a mitochondrial m.1555A > G variant). <b>Results</b>: Residual hearing was well preserved after EAS surgery, and post-operative impedance field telemetry was maintained at a very low level in contrast with a historical/retrospective control group (FLEX28 electrodes without DEX); therefore, it is expected that post-operative fibrosis will be minimized. Further, it was shown that the DEX-eluting electrode can also be applied to EAS. <b>Conclusions</b>: The DEX-eluting electrode was useful in maintaining post-operative impedance at a very low level, indicating that post-operative fibrosis could be minimized even after EAS surgery.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145113866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationships Between Self-Report Hearing Scales, Listening Effort, and Speech Perception in Cocktail Party Noise in Hearing-Aided Patients.","authors":"Annie Moulin, Pierre-Emmanuel Aguera, Mathieu Ferschneider","doi":"10.3390/audiolres15050113","DOIUrl":"10.3390/audiolres15050113","url":null,"abstract":"<p><strong>Background/objectives: </strong>Potential correlations between the scores of self-report questionnaires and speech perception in noise abilities vary widely among studies and have been little explored in patients with conventional hearing aids (HAs). This study aimed to analyse the interrelations between (1) self-report auditory scales (the 15-item short-form of the Speech Spatial and Qualities of Hearing Scale (15iSSQ) and the Extended Listening Effort Assessment Scale (EEAS); (2) speech perception in cocktail party noise, measured with and without HAs; and (3) a self-assessment of the listening effort perceived during the speech in a noise-perception task (TLE) in hearing-aid wearers.</p><p><strong>Material and methods: </strong>-Thirty-two patients, aged of 77.5 years (SD = 12) with a mean HA experience of 5.6 years, completed the 15iSSQ and EEAS. Their speech-in-babble-noise perception thresholds (SPIN) were assessed with (HA_SPIN) and without their HAs (UA_SPIN), using a four-alternative forced-choice test in free field, with several fixed Signal to Noise ratios (SNR). They were asked to self-assess their listening effort at each of those SNRs, allowing us to define a task-related listening-effort threshold with (HA_TLE) and without HAs (UA_TLE), i.e., the SNR for which they self-evaluated their listening effort as 5 out of 10.</p><p><strong>Results: </strong>15iSSQ decreased as both HA_SPIN (r = -0.47, <i>p</i> < 0.01) and HA_TLE increased (r = -0.36, <i>p</i> < 0.05). The relationship between 15iSSQ<i>Speech</i> and UA_SPIN (and UA_TLE) showed a strong moderating influence by HA experience and HA daily wear (HADW), explaining up to 31% of the variance. 15iSSQ<i>Quality</i> depended on HA SPIN and HA_TLE (r = -0.50, <i>p</i> < 0.01), and the relationship between 15iSSQ<i>Quality</i> and UA_TLE was moderated by HADW. EEAS scores depended on both HA experience and UA_SPIN, with a strong moderating influence by HADW.</p><p><strong>Conclusions: </strong>Relationships between auditory questionnaires and SPIN are strongly moderated by both HA experience and HADW, even in experienced HA users, showing the need to account for these variables when analysing relationships between questionnaires and hearing-in-noise tests in experienced HA wearers.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Novel 1259 bp Intragenic Deletion in the <i>GJB2</i> Gene in a Mexican Family with Congenital Profound Hearing Loss.","authors":"David Oaxaca-Castillo, Laura Taño-Portuondo, Montserrat Rodríguez-Ballesteros, Gerardo Pérez-Mendoza, Igrid García-González, Jorge Canto-Herrera, María Domínguez-Ruiz, Doris Pinto-Escalante, Orlando Vargas-Sierra, Damaris Estrella-Castillo, Paola López-González, Javier E Sosa-Escalante, Ignacio Del Castillo, Lizbeth González-Herrera","doi":"10.3390/audiolres15050111","DOIUrl":"10.3390/audiolres15050111","url":null,"abstract":"<p><p>Hearing loss is a genetically heterogeneous sensory defect for which biallelic pathogenic variants in the <i>GJB2</i> gene are a frequent cause. Here, we report a novel intragenic large deletion in <i>GJB2</i> in a Mayan family with several members affected by congenital non-syndromic hearing loss. The analysis of the <i>GJB2</i> gene in the proband was performed through Sanger sequencing. A novel homozygous 1259 bp deletion in <i>GJB2</i> was identified, starting at nucleotide 248 of the coding region and ending at nucleotide 825 of the 3'-UTR (g.20188077_20189335del). Bioinformatic tools were used to predict the structural impact of the variant. This deletion would result in a truncated protein of 86 amino acids, p.(Phe83Cysfs*5), disrupting several critical domains of the connexin-26 protein. We developed an endpoint-PCR assay to test for the deletion. It was present homozygously in all affected siblings and was absent in 153 ethnically matched controls with normal hearing. Both parents and two unaffected siblings were heterozygous carriers, consistent with an autosomal recessive inheritance pattern. The identification of this novel large deletion expands the spectrum of <i>GJB2</i> pathogenic variants causing non-syndromic hearing loss, and it is of concern to <i>GJB2</i> screening methods that rely primarily on Sanger sequencing for its coding region.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":"15 5","pages":""},"PeriodicalIF":1.8,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12452471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}