Adela Serrano-Herrera, Jose Antonio Lopez-Escamez, Alvaro Gallego-Martinez, Patricia Perez-Carpena
{"title":"Trends in the diagnosis of paediatric sensorineural hearing loss: a scoping review of gene panels, exome and genome sequencing.","authors":"Adela Serrano-Herrera, Jose Antonio Lopez-Escamez, Alvaro Gallego-Martinez, Patricia Perez-Carpena","doi":"10.1080/14992027.2024.2435564","DOIUrl":"https://doi.org/10.1080/14992027.2024.2435564","url":null,"abstract":"<p><strong>Objective: </strong>To review recent advances in genetic diagnosis of sensorineural hearing loss (SNHL) using gene panels, exome, and genome sequencing.</p><p><strong>Design: </strong>A scoping review. Articles published from January 2022 to May 2024 on gene panels, exome, or genome sequencing for early SNHL diagnosis were reviewed.</p><p><strong>Study sample: </strong>After removing duplicates and abstract and full-text review, 26 articles met inclusion criteria.</p><p><strong>Results: </strong>Approximately, 60% of SNHL cases are genetic, with over 148 genes linked to non-syndromic forms and 700-800 associated but unconfirmed. Next-generation sequencing (NGS) has transformed etiologic diagnosis, with yields up to 79% depending on test and population. Exome sequencing achieves 40-60% diagnostic accuracy for bilateral SNHL and 1-5% for unilateral, rising to 18.3% with syndromic cases. However, challenges persist in cost, test performance, and variant interpretation, with newborn screening potentially missing 25-30% of SNHL cases.</p><p><strong>Conclusions: </strong>Findings underscore the need for optimised screening, robust variant interpretation frameworks, and personalised counselling. Diagnostic approaches should be tailored, with NGS gene panels or exome sequencing recommended for bilateral cases and unilateral cases after excluding non-genetic causes. Genome sequencing may be pursued if no genetic cause is found, with follow-up. Integrating genetic diagnostics into standard care could improve outcomes and interventions for SNHL patients.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1-7"},"PeriodicalIF":1.8,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Integrated speech audiometry: objective and subjective performance of elderly listeners.","authors":"Jerry Punch, Brad Rakerd","doi":"10.1080/14992027.2024.2425998","DOIUrl":"https://doi.org/10.1080/14992027.2024.2425998","url":null,"abstract":"<p><strong>Objective: </strong>This study was conducted to assess the ecological validity of the speech audiometry protocol recommended by Punch and Rakerd (2019) when implemented in older adults with hearing impairment. That protocol measures a listener's speech recognition threshold (SRT), most comfortable loudness level for speech (MCL), and uncomfortable loudness level for speech (UCL) in an integrated format that utilises single spondaic words as the stimulus set for all tests.</p><p><strong>Design: </strong>Stimulus presentation and response collection were fully automated, test times were tracked electronically, and a short questionnaire was administered to assess subjective reactions to the test procedures.</p><p><strong>Study sample: </strong>The study participants were 12 older adults with bilaterally symmetrical sensorineural hearing loss.</p><p><strong>Results: </strong>SRT measurements for both ears agreed well with the participants' two-frequency pure tone averages, and MCL and UCL measurements agreed well with previously reported values for individuals with similar degrees of sensorineural hearing loss. The average time to complete bilateral speech audiometric testing was 13.1 minutes. Participants' subjective reactions to the integrated protocol were highly positive.</p><p><strong>Conclusions: </strong>This study demonstrates that older listeners with sensorineural hearing loss can produce clinically acceptable speech audiometric results when testing is administered in an automated sequence prescribed by the integrated protocol.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1-8"},"PeriodicalIF":1.8,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800225","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Rising-frequency chirp stimuli effectively enhance the amplitude and shorten the latency of 40-hz auditory steady-state response.","authors":"Shunsuke Takai, Takashi Morimoto, Akitake Kanno, Tetsuaki Kawase, Jun Suzuki, Nobukatsu Nakasato, Ryuta Kawashima, Yukio Katori","doi":"10.1080/14992027.2024.2430765","DOIUrl":"https://doi.org/10.1080/14992027.2024.2430765","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the effects of changes in group delay from a click signal to a chirp signal on the 40-Hz Auditory Steady-State Response (ASSR) using magnetoencephalography (MEG).</p><p><strong>Design: </strong>In this study, each participant was exposed to 10 chirp signals with gradually varying group delays from the CE chirp to the click at 60 dB nHL. The 40-Hz ASSR was measured using MEG and evaluated for amplitude and latency in the maximum signal channel at the click signal measured in each hemisphere.</p><p><strong>Study sample: </strong>Ten native Japanese speakers without histories of auditory diseases (8 males and 2 females, mean age 28.4 ± 5.70 years) participated in the study.</p><p><strong>Results: </strong>The 40-Hz ASSR amplitude increased with the group delay of the chirp signal, was most efficient with the CE-chirp (longest group delay) and was significantly larger in the contralateral hemisphere for the CE-chirp than with the click signal. No significant differences were observed in ipsilateral hemispheres. The latency of the 40-Hz ASSR decreased as the group delay of the chirp signal increased.</p><p><strong>Conclusions: </strong>This study demonstrated that chirp signals, particularly the CE chirp, are more efficient than click signals in eliciting a 40-Hz ASSR, especially in the contralateral hemisphere.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1-8"},"PeriodicalIF":1.8,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Speech recognition and real-ear-measured amplification in hearing-aid users with various grades of hearing loss.","authors":"Max Engler, Frank Digeser, Ulrich Hoppe","doi":"10.1080/14992027.2024.2426009","DOIUrl":"https://doi.org/10.1080/14992027.2024.2426009","url":null,"abstract":"<p><strong>Objective: </strong>The relationship between aided speech recognition and hearing-aid (HA) amplification was investigated in a retrospective study.</p><p><strong>Design and study sample: </strong>Pure-tone thresholds, aided and unaided speech recognition and real-ear measurements of 635 ears in 374 HA users were reviewed. Ears were classified according to pure-tone average (PTA) and real-ear aided response (REAR) in relation to the targets of NAL-NL2 and DSL v5.0.</p><p><strong>Results: </strong>For DSL v5.0, compared with NAL-NL2, higher amplification was calculated almost consistently for input levels of 65 and 80 dB SPL. Speech-recognition scores were best when the REAR reached ±5 dB or exceeded 5 dB the DSL v5.0 target and were lowest when the REAR fell more than 5 dB below the NAL-NL2 target.</p><p><strong>Conclusions: </strong>The greatest impact of the REAR on speech recognition was observed at hearing losses between 50 and 80 dB HL. It was found that to optimise speech recognition and audibility for patients in this range HA fittings should target DSL v5.0 prescription values. For hearing losses below 50 dB HL, both NAL-NL2 and DSL v5.0 may be considered for HA fitting. However, for hearing losses above 80 dB HL, aided speech recognition is insufficient in most cases.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1-12"},"PeriodicalIF":1.8,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lukas Graf, Jonas Lochner, Hamidreza Mojallal, Andreas Arnold, Flurin Honegger, Christof Stieger
{"title":"Experimental quantification of the vibrant soundbridge stapes head (SH-) coupler in human cadaveric temporal bones.","authors":"Lukas Graf, Jonas Lochner, Hamidreza Mojallal, Andreas Arnold, Flurin Honegger, Christof Stieger","doi":"10.1080/14992027.2024.2434905","DOIUrl":"https://doi.org/10.1080/14992027.2024.2434905","url":null,"abstract":"<p><strong>Background: </strong>The \"floating mass transducer\" (FMT) of the Vibrant Soundbridge was initially attached to the long process of the incus (LP). In patients missing an incus, coupling to the stapes head using the Vibroplasty CliP-coupler is used. Its main limitation is the height, leading to potential contact with the tympanic membrane. The new stapes head (SH)-coupler reduces the functional height but tilts the stimulation angle by 30°. We investigated the SH-coupler's magnitude and sound transmission quality compared to the LP-coupler.</p><p><strong>Methods: </strong>Laser Doppler vibrometry was used on 10 cadaveric human temporal bones. Measurements of the stapes and round window motion were taken for electrical (FMT-) stimulation during application of both couplers.</p><p><strong>Results: </strong>At the round window, the SH-coupler showed a significantly higher gain magnitude than the LP-coupler (+ 13.4 dB over 1023-3577Hz). At low frequencies (382-500Hz), the SH-coupler gain was significantly lower (-9.9 dB). Total harmonic distortions >10% at 100 dB HLeq were recorded in 3.4% of the SH- and 7.4% of the LP-couplers above 500 Hz.</p><p><strong>Conclusion: </strong>The SH-coupler's performance exceeds the LP-coupler in middle and high frequencies and is comparable to and a good alternative to the CliP-coupler, dependent on the individual anatomy.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1-7"},"PeriodicalIF":1.8,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142800123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ibrahim Almufarrij, Nasreen Sindi, Anna Pepler, Kevin J Munro
{"title":"Is the role of probe-tube, real-ear measurements changing for adults with mild-to-moderate hearing loss?","authors":"Ibrahim Almufarrij, Nasreen Sindi, Anna Pepler, Kevin J Munro","doi":"10.1080/14992027.2024.2435588","DOIUrl":"https://doi.org/10.1080/14992027.2024.2435588","url":null,"abstract":"<p><strong>Objective: </strong>This study compared the deviation from target before and after fine tuning using probe-tube real-ear measurements (REMs). This was done to investigate if recent findings (e.g., little additional benefit of REMs in adults fitted with Oticon hearing aids) generalise to a different manufacturer's fitting software.</p><p><strong>Design: </strong>Retrospective analysis of clinical fitting data of the Initial Fit (IF) using NAL-NL2 and after REMs.</p><p><strong>Study sample: </strong>The fitting data of 256 new adult hearing aid users with mild-to-moderate hearing loss were analysed.</p><p><strong>Result: </strong>REMs did not reduce the median deviation from target compared to IF for 65 dB SPL input level, except at 4 kHz where fine tuning resulted in a lower underfit (-2 dB vs. -5 dB). The range of deviations was not reduced after fine tuning, except at 2 and 4 kHz where the distributions were narrower for REM.</p><p><strong>Conclusions: </strong>These findings confirm that improvements in fitting software mean there is less evidence that REMs and fine-tuning improve the match to target for many new fittings in adults with mild-to-moderate hearing loss. Further research is needed to generalise the findings to other manufacturers, input levels and prescription methods. Future studies should integrate perceptual and financial dimensions to comprehensively understand the benefits and trade-offs of REM for average and outlier users.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1-5"},"PeriodicalIF":1.8,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794008","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Development and verification of non-supervised smartphone-based methods for assessing pure-tone thresholds and loudness perception.","authors":"Chen Xu, Lena Schell-Majoor, Birger Kollmeier","doi":"10.1080/14992027.2024.2424876","DOIUrl":"https://doi.org/10.1080/14992027.2024.2424876","url":null,"abstract":"<p><strong>Objective: </strong>The benefit of using smartphones for hearing tests in a non-supervised, rapid, and contactless way has drawn a lot of interest, especially if supra-threshold measures are assessed that go beyond audiogram-based measures alone. It is unclear, nevertheless, how well these measures compare to more supervised and regulated manual audiometric assessments. The aim of this study is to validate such smartphone-based methods against standardised laboratory assessments.</p><p><strong>Design: </strong>Pure-tone audiometry and categorical loudness scaling (CLS) were used. Three conditions with varying degrees of supervision were created and compared. In order to assess binaural and spectral loudness summation, both narrowband monaural and broadband binaural noise have been examined as CLS test stimuli.</p><p><strong>Study sample: </strong><i>N</i> = 21 individuals with normal hearing and <i>N</i> = 16 participants with mild-to-moderate hearing loss.</p><p><strong>Results: </strong>The tests conducted here did not show any distinctions between smartphone-based and laboratory-based methods.</p><p><strong>Conclusions: </strong>Non-supervised listening tests via smartphone may serve as a valid, reliable, and cost-effective approach, e.g. for pure-tone audiometry, CLS, and the evaluation of binaural and spectral loudness summation. In addition, the supra-threshold tests can be constructed to be invariant against missing calibration and external noise which makes them more robust for smartphone usage than audiogram measures.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1-11"},"PeriodicalIF":1.8,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768475","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carl Pedersen, Ellen Raben Pedersen, Søren Laugesen, Raul Sanchez-Lopez, Jacob Nielsen, Chris Bang Sørensen, Jesper Hvass Schmidt
{"title":"Comparison of hearing-aid effectiveness based on user-operated versus traditional audiometry: a randomised clinical trial.","authors":"Carl Pedersen, Ellen Raben Pedersen, Søren Laugesen, Raul Sanchez-Lopez, Jacob Nielsen, Chris Bang Sørensen, Jesper Hvass Schmidt","doi":"10.1080/14992027.2024.2434897","DOIUrl":"https://doi.org/10.1080/14992027.2024.2434897","url":null,"abstract":"<p><strong>Objective: </strong>To investigate whether hearing-aid fitting based on user-operated audiometry is non-inferior to hearing-aid fitting based on traditional audiometry.</p><p><strong>Design: </strong>This non-inferiority randomised clinical trial, took place at Odense University Hospital, Odense, Denmark. In a first visit, participants were tested with traditional audiometry as well as user-operated audiometry and filled in the Speech, Spatial and Qualities of Hearing Scale (SSQ12) at baseline. Next, they were randomly divided to receive hearing aids fitted based on either the user-operated (UAud group) or the traditional audiometry (control group) hearing thresholds. After three months of hearing-aid use, participants underwent an aided hearing-in-noise test and completed the SSQ12 again, as well as an additional battery of outcome measures.</p><p><strong>Study sample: </strong>A total of 215 adults with sensorineural hearing impairment referred for bilateral hearing-aid fitting.</p><p><strong>Results: </strong>The before-after change in SSQ12 total scores was not different between the groups as the interaction between test times and groups was -0.06 (95% CI -0.56 to 0.44, <i>p</i> = 0.811).</p><p><strong>Conclusions: </strong>The findings suggest that the HA effectiveness in the UAud group was non-inferior to those observed in the control group. This implies that integrating user-operated audiometry into the clinical system is feasible, offering potential personnel time savings without compromising patient outcomes.</p><p><strong>Trial registration: </strong>The trial was registered at ClinicalTrials.gov (NCT05043207).</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1-8"},"PeriodicalIF":1.8,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Remote hearing-aid delivery and support: perspectives of patients and their hearing care providers.","authors":"Matthew Blyth, Gabrielle H Saunders","doi":"10.1080/14992027.2024.2304585","DOIUrl":"10.1080/14992027.2024.2304585","url":null,"abstract":"<p><strong>Objective: </strong>To explore the perspectives of patients and hearing care providers (HCPs) about an adult remote hearing-aid delivery service implemented during the COVID-19 pandemic.</p><p><strong>Design: </strong>Service evaluation via surveys. The patient survey measured satisfaction with the service, perceived hearing-aid handling skills, and preferences for future services. The HCP survey explored the impact of teleaudiology on outcomes compared to in-person care and factors important for successful teleaudiology.</p><p><strong>Study sample: </strong>378 patients and 14 HCPs.</p><p><strong>Results: </strong>Patients were highly satisfied with the service and self-reported good hearing-aid handling skills. However, 2 in 3 patients said they would prefer a future hearing-aid fitting to be in-person rather than remote. HCPs thought teleaudiology had positive impacts on convenience, accessibility, and flexibility, but negative impacts on communication, rapport, and the quality of care. HCPs considered computer literacy and individual preferences to be important for successful remote care; the age of the patient was considered less important.</p><p><strong>Conclusions: </strong>Patients were generally highly satisfied with the service and for 1 in 3 it was their preferred mode of future hearing-aid fitting. Future services should be aware that a one-size-fits-all approach will not satisfy all patients and that teleaudiology should be offered on the basis of individual preference.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"966-974"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139569105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Development of the mandarin reading span test and confirmation of its relationship with speech perception in noise.","authors":"Shangqiguo Wang, Lena L N Wong, Yuan Chen","doi":"10.1080/14992027.2024.2305685","DOIUrl":"10.1080/14992027.2024.2305685","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to develop a dual-task Mandarin Reading Span Test (RST) to assess verbal working memory related to speech perception in noise.</p><p><strong>Design: </strong>The test material was developed taking into account psycholinguistic factors (i.e. sentence structure, number of syllables, word familiarity, and sentences plausibility), to achieve good test reliability and face validity. The relationship between the 28-sentence Mandarin RST and speech perception in noise was confirmed using three speech perception in noise measures containing varying levels of contextual and linguistic information.</p><p><strong>Study sample: </strong>The study comprised 42 young adults with normal hearing and 56 older adult who were hearing aid users with moderate to severe hearing loss.</p><p><strong>Results: </strong>In older hearing aid users, the 28-sentence RST showed significant correlation with speech reception thresholds as measured by three Mandarin sentence in noise tests (<i>r<sub>s</sub></i> or <i>r</i> = -.681 to -.419) but not with the 2-digit sequence Digit-in-Noise Test.</p><p><strong>Conclusion: </strong>The newly developed dual-task Mandarin RST, constructed with careful psycholinguistic consideration, demonstrates a significant relationship with sentence perception in noise. This suggests that the Mandarin RST could serve as a measure of verbal working memory.</p>","PeriodicalId":13759,"journal":{"name":"International Journal of Audiology","volume":" ","pages":"1009-1018"},"PeriodicalIF":1.8,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139546202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}