Audiology Research最新文献

{"title":"Navigating the Usher Syndrome Genetic Landscape: An Evaluation of the Associations between Specific Genes and Quality Categories of Cochlear Implant Outcomes.","authors":"Micol Busi, Alessandro Castiglione","doi":"10.3390/audiolres14020023","DOIUrl":"10.3390/audiolres14020023","url":null,"abstract":"<p><p>Usher syndrome (US) is a clinically and genetically heterogeneous disorder that involves three main features: sensorineural hearing loss, retinitis pigmentosa (RP), and vestibular impairment. With a prevalence of 4-17/100,000, it is the most common cause of deaf-blindness worldwide. Genetic research has provided crucial insights into the complexity of US. Among nine confirmed causative genes, <i>MYO7A</i> and <i>USH2A</i> are major players in US types 1 and 2, respectively, whereas <i>CRLN1</i> is the sole confirmed gene associated with type 3. Variants in these genes also contribute to isolated forms of hearing loss and RP, indicating intersecting molecular pathways. While hearing loss can be adequately managed with hearing aids or cochlear implants (CIs), approved RP treatment modalities are lacking. Gene replacement and editing, antisense oligonucleotides, and small-molecule drugs hold promise for halting RP progression and restoring vision, enhancing patients' quality of life. Massively parallel sequencing has identified gene variants (e.g., in <i>PCDH15</i>) that influence CI results. Accordingly, preoperative genetic examination appears valuable for predicting CI success. To explore genetic mutations in CI recipients and establish correlations between implant outcomes and involved genes, we comprehensively reviewed the literature to gather data covering a broad spectrum of CI outcomes across all known US-causative genes. Implant outcomes were categorized as excellent or very good, good, poor or fair, and very poor. Our review of 95 cochlear-implant patients with US, along with their CI outcomes, revealed the importance of presurgical genetic testing to elucidate potential challenges and provide tailored counseling to improve auditory outcomes. The multifaceted nature of US demands a comprehensive understanding and innovative interventions. Genetic insights drive therapeutic advancements, offering potential remedies for the retinal component of US. The synergy between genetics and therapeutics holds promise for individuals with US and may enhance their sensory experiences through customized interventions.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207837","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":"Intraoperative Measurement of Insertion Speed in Cochlear Implant Surgery: A Preliminary Experience with Cochlear SmartNav.","authors":"Stefano Concheri, Davide Brotto, Marzia Ariano, Antonio Daloiso, Valerio Maria Di Pasquale Fiasca, Flavia Sorrentino, Beatrice Coppadoro, Patrizia Trevisi, Elisabetta Zanoletti, Sebastiano Franchella","doi":"10.3390/audiolres14020021","DOIUrl":"10.3390/audiolres14020021","url":null,"abstract":"<p><strong>Objectives: </strong>The objectives were to present the real-time estimated values of cochlear implant (CI) electrode insertion speed (IS) during intraoperative sessions using the Cochlear Nucleus SmartNav System to assess whether this measure affected CI outcomes and to determine whether real-time feedback assists expert surgeons in achieving slow insertion.</p><p><strong>Methods: </strong>The IS was measured in 52 consecutive patients (65 implanted ears) using the CI632 electrode. The IS values were analyzed in relation to procedure repetition over time, NRT ratio, and CI audiological outcomes.</p><p><strong>Results: </strong>The average IS was 0.64 mm/s (SD = 0.24); minimum and maximum values were 0.23 and 1.24 mm/s, respectively. The IS significantly decreased with each array insertion by the operator (<i>p</i> = 0.006), and the mean decreased by 24% between the first and last third of procedures; however, this reduction fell within the error range of SmartNav for IS (+/-0.48 mm/s). No correlation was found between IS and the NRT ratio (<i>p</i> = 0.51), pure-tone audiometry (PTA) at CI activation (<i>p</i> = 0.506), and PTA (<i>p</i> = 0.94) or word recognition score (<i>p</i> = 0.231) at last evaluation.</p><p><strong>Conclusions: </strong>The estimated IS reported by SmartNav did not result in a clinically significant reduction in insertion speed or an improvement in CI hearing outcomes. Real-time feedback of IS could potentially be used for training, but its effectiveness requires confirmation through additional studies and more accurate tools. Implementation of IS assessment in clinical practice will enable comparisons between measurement techniques and between manual and robot-assisted insertions. This will help define the optimal IS range to achieve better cochlear implant (CI) outcomes.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207801","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":"Autosomal Recessive Non-Syndromic Deafness: Is AAV Gene Therapy a Real Chance?","authors":"Davide Brotto, Marco Greggio, Cosimo De Filippis, Patrizia Trevisi","doi":"10.3390/audiolres14020022","DOIUrl":"10.3390/audiolres14020022","url":null,"abstract":"<p><p>The etiology of sensorineural hearing loss is heavily influenced by genetic mutations, with approximately 80% of cases attributed to genetic causes and only 20% to environmental factors. Over 100 non-syndromic deafness genes have been identified in humans thus far. In non-syndromic sensorineural hearing impairment, around 75-85% of cases follow an autosomal recessive inheritance pattern. In recent years, groundbreaking advancements in molecular gene therapy for inner-ear disorders have shown promising results. Experimental studies have demonstrated improvements in hearing following a single local injection of adeno-associated virus-derived vectors carrying an additional normal gene or using ribozymes to modify the genome. These pioneering approaches have opened new possibilities for potential therapeutic interventions. Following the PRISMA criteria, we summarized the AAV gene therapy experiments showing hearing improvement in the preclinical phases of development in different animal models of DFNB deafness and the AAV gene therapy programs currently in clinical phases targeting autosomal recessive non syndromic hearing loss. A total of 17 preclinical studies and 3 clinical studies were found and listed. Despite the hurdles, there have been significant breakthroughs in the path of HL gene therapy, holding great potential for providing patients with novel and effective treatment.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207798","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":"Effects of Musical Training in Music Therapy Following Cochlear Implantation-A Case Report.","authors":"Astrid Magele, Bianca Wirthner, Philipp Schoerg, Georg M Sprinzl","doi":"10.3390/audiolres14020020","DOIUrl":"10.3390/audiolres14020020","url":null,"abstract":"<p><p>The most prevalent sensory impairment impacting the elderly is age-related hearing loss (HL), which affects around 65% of individuals over the age of 60 years. This bilateral, symmetrical sensorineural impairment profoundly affects auditory perception, speech discrimination, and the overall understanding of auditory signals. Influenced by diverse factors, age-related HL can substantially influence an individual's quality of life and mental health and can lead to depression. Cochlear implantation (CI) stands as a standard intervention, yet despite advancements, music perception challenges persist, which can be addressed with individualized music therapy. This case report describes the journey of an 81-year-old musician through profound sensorineural hearing loss, cochlear implantation, and rehabilitative music therapy. Auditory evaluations, musical exercises, and quality of life assessments highlighted meaningful improvements in music perception, auditory skills, and overall satisfaction post-implantation. Music therapy facilitated emotional, functional, and musical levels of engagement, notably enhancing his ability to perceive melody, rhythm, and different instruments. Moreover, subjective assessments and audiograms indicated marked improvements in auditory differentiation, music enjoyment, and overall hearing thresholds. This comprehensive approach integrating bilateral CIs and music therapy showcased audiological and quality of life enhancements in an elderly individual with profound hearing loss, emphasizing the efficacy of this combined treatment approach.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10961688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140207800","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":"Association of Head Injury, Neck Injury or Acoustic Trauma on Phenotype of Ménière's Disease.","authors":"Ilmari Pyykkö, Vinay, Artur Vetkas, Jing Zou, Vinaya Manchaiah","doi":"10.3390/audiolres14010019","DOIUrl":"10.3390/audiolres14010019","url":null,"abstract":"<p><p>The aim of the present study was to investigate adverse effects of head injury, neck trauma, and chronic noise exposure on the complaint profile in people with Ménière's disease (MD). The study used a retrospective design. Register data of 912 patients with MD from the Finnish Ménière Federation database were studied. The data comprised case histories of traumatic brain injury (TBI), neck trauma and occupational noise exposure, MD specific complaints, impact related questions, and the E-Qol health-related quality of life instrument. TBI was classified based on mild, moderate, and severe categories of transient loss of consciousness (TLoC). The mean age of the participants was 60.2 years, the mean duration of the disease was 12.6 years, and 78.7% were females. Logistic regression analysis, linear correlation, and pairwise comparisons were used in evaluating the associations. 19.2% of the participants with MD had a history of TBI. The phenotype of participants with TBI was associated with frequent vestibular drop attacks (VDA), presyncope, headache-associated vertigo, and a reduction in the E-QoL. Logistic regression analysis explained the variability of mild TBI in 6.8%. A history of neck trauma was present in 10.8% of the participants. Neck trauma associated with vertigo (NTwV) was seen in 47 and not associated with vertigo in 52 participants. The phenotype of NTwV was associated with balance problems, VDA, physical strain-induced vertigo, and hyperacusia. Logistic regression analysis explained 8.7% of the variability of the complaint profile. Occupational noise exposure was recorded in 25.4% of the participants and correlated with the greater impact of tinnitus, hyperacusis, and hearing loss. Neither the frequency, duration, or severity of vertigo or nausea were significantly different between the baseline group and the TBI, NTwV, or noise-exposure groups. The results indicate that TBI and NTwV are common among MD patients and may cause a confounder effect.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10885978/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139933382","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":"Soft Tissue Conduction Activates the Auditory Pathway in the Brain.","authors":"Miriam Geal-Dor, Haim Sohmer","doi":"10.3390/audiolres14010018","DOIUrl":"10.3390/audiolres14010018","url":null,"abstract":"<p><p>Soft tissue conduction is a mode of hearing which differs from air and bone conduction since the soft tissues of the body convey the audio-frequency vibrations to the ear. It is elicited by inducing soft tissue vibrations with an external vibrator applied to sites on the body or by intrinsic vibrations resulting from vocalization or the heartbeat. However, the same external vibrator applied to the skin sites also excites cutaneous mechanoreceptors, and attempts have been made to assist patients with hearing loss by audio-tactile substitution. The present study was conducted to assess the contribution of the auditory nerve and brainstem pathways to soft tissue conduction hearing. The study involved 20 normal hearing students, equipped with ear plugs to reduce the possibility of their response to air-conducted sounds produced by the external vibrator. Pure tone audiograms and speech reception (recognition) thresholds were determined in response to the delivery of the stimuli by a clinical bone vibrator applied to the cheek, neck and shoulder. Pure tone and speech recognition thresholds were obtained; the participants were able to repeat the words they heard by soft tissue conduction, confirming that the auditory pathways in the brain had been stimulated, with minimal involvement of the somatosensory pathways.</p>","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10886245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139933384","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 Profile-Based Hearing Aid Fitting: Self-Reported Benefit for First-Time Hearing Aid Users","authors":"Oscar M. Cañete, Gérard Loquet, R. Sánchez-López, D. Hougaard, Rikke Schnack-Petersen, Michael Gaihede, J. H. Schmidt, D. Hammershøi, T. Neher","doi":"10.3390/audiolres14010017","DOIUrl":"https://doi.org/10.3390/audiolres14010017","url":null,"abstract":"Background: Although hearing aids (HAs) can compensate for reduced audibility, functional outcomes and benefits vary widely across individuals. As part of the Danish ‘Better hEAring Rehabilitation’ (BEAR) project, four distinct auditory profiles differing in terms of audiometric thresholds and supra-threshold hearing abilities were recently identified. Additionally, profile-specific HA-fitting strategies were proposed. The aim of the current study was to evaluate the self-reported benefit of these profile-based HA fittings in a group of new HA users. Methods: A total of 205 hearing-impaired older adults were recruited from two Danish university hospitals. Participants were randomly allocated to one of two treatment groups: (1) NAL-NL2 gain prescription combined with default advanced feature settings (‘reference fitting’) or (2) auditory profile-based fitting with tailored gain prescription and advanced feature settings (‘BEAR fitting’). Two months after treatment, the participants completed the benefit version of the short form of the Speech, Spatial, and Qualities of Hearing Scale (SSQ12-B) and the International Outcome Inventory for Hearing Aids (IOI-HA) questionnaire. Results: Overall, participants reported a clear benefit from HA treatment. However, no significant differences in the SSQ12-B or IOI-HA scores between the reference and BEAR fittings were found. Conclusion: First-time users experience clear benefits from HA treatment. Auditory profile-based HA fitting warrants further investigation.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139791671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Auditory Profile-Based Hearing Aid Fitting: Self-Reported Benefit for First-Time Hearing Aid Users","authors":"Oscar M. Cañete, Gérard Loquet, R. Sánchez-López, D. Hougaard, Rikke Schnack-Petersen, Michael Gaihede, J. H. Schmidt, D. Hammershøi, T. Neher","doi":"10.3390/audiolres14010017","DOIUrl":"https://doi.org/10.3390/audiolres14010017","url":null,"abstract":"Background: Although hearing aids (HAs) can compensate for reduced audibility, functional outcomes and benefits vary widely across individuals. As part of the Danish ‘Better hEAring Rehabilitation’ (BEAR) project, four distinct auditory profiles differing in terms of audiometric thresholds and supra-threshold hearing abilities were recently identified. Additionally, profile-specific HA-fitting strategies were proposed. The aim of the current study was to evaluate the self-reported benefit of these profile-based HA fittings in a group of new HA users. Methods: A total of 205 hearing-impaired older adults were recruited from two Danish university hospitals. Participants were randomly allocated to one of two treatment groups: (1) NAL-NL2 gain prescription combined with default advanced feature settings (‘reference fitting’) or (2) auditory profile-based fitting with tailored gain prescription and advanced feature settings (‘BEAR fitting’). Two months after treatment, the participants completed the benefit version of the short form of the Speech, Spatial, and Qualities of Hearing Scale (SSQ12-B) and the International Outcome Inventory for Hearing Aids (IOI-HA) questionnaire. Results: Overall, participants reported a clear benefit from HA treatment. However, no significant differences in the SSQ12-B or IOI-HA scores between the reference and BEAR fittings were found. Conclusion: First-time users experience clear benefits from HA treatment. Auditory profile-based HA fitting warrants further investigation.","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139851492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comment on Umemoto et al. Management of Migraine-Associated Vestibulocochlear Disorders. Audiol. Res. 2023, 13, 528–545","authors":"D. Theodorou, S. Theodorou, Vasilios Mitsios","doi":"10.3390/audiolres14010015","DOIUrl":"https://doi.org/10.3390/audiolres14010015","url":null,"abstract":"We read with great interest the recent article by Umemoto, K. [...]","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139796235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comment on Umemoto et al. Management of Migraine-Associated Vestibulocochlear Disorders. Audiol. Res. 2023, 13, 528–545","authors":"D. Theodorou, S. Theodorou, Vasilios Mitsios","doi":"10.3390/audiolres14010015","DOIUrl":"https://doi.org/10.3390/audiolres14010015","url":null,"abstract":"We read with great interest the recent article by Umemoto, K. [...]","PeriodicalId":44133,"journal":{"name":"Audiology Research","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139855813","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}