{"title":"TMTC2 相关感音神经性听力损失和听觉神经病/听觉不同步患者的人工耳蜗植入效果。","authors":"Lauren North, Michael Olivier, Christina L Runge","doi":"10.1097/MAO.0000000000004208","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To investigate the outcomes of cochlear implantation in patients with TMTC2 -associated sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony.</p><p><strong>Patients: </strong>Adult and pediatric cochlear implant (CI) patients followed in an academic center who tested positive for TMTC2 genetic variant rs35725509.</p><p><strong>Intervention: </strong>Cochlear implantation.</p><p><strong>Main outcome measures: </strong>Speech perception scores in quiet.</p><p><strong>Results: </strong>Ten CI patients were identified with TMTC2 variant rs35725509 out of 157 patients who underwent genetic testing (i.e., 6.3% of patients tested). All demonstrated progressive, bilateral hearing loss with severe-to-profound audiometric thresholds preoperatively. Pre-CI and 1-year post-CI speech recognition percent correct scores were compared. Post-CI speech perception (mean 61.0%, standard deviation 31.4%) was significantly higher than pre-CI speech perception (mean 21.0%, standard deviation 27.0%) ( p = 0.002). Individually, 9 of the 10 subjects experienced significant improvements in speech perception pre- to post-CI ( p < 0.05). Electrically evoked compound action potential measures were available for five patients, and all showed normal electrically evoked compound action potential thresholds.</p><p><strong>Conclusion: </strong>Patients with TMTC2 -associated sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony have significantly improved speech perception outcomes with cochlear implantation and should be considered candidates for this intervention if there are no other contraindications.</p>","PeriodicalId":19732,"journal":{"name":"Otology & Neurotology","volume":null,"pages":null},"PeriodicalIF":1.9000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11168879/pdf/","citationCount":"0","resultStr":"{\"title\":\"Cochlear Implant Outcomes in Patients With TMTC2 -Associated Sensorineural Hearing Loss and Auditory Neuropathy/Auditory Dys-Synchrony.\",\"authors\":\"Lauren North, Michael Olivier, Christina L Runge\",\"doi\":\"10.1097/MAO.0000000000004208\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To investigate the outcomes of cochlear implantation in patients with TMTC2 -associated sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony.</p><p><strong>Patients: </strong>Adult and pediatric cochlear implant (CI) patients followed in an academic center who tested positive for TMTC2 genetic variant rs35725509.</p><p><strong>Intervention: </strong>Cochlear implantation.</p><p><strong>Main outcome measures: </strong>Speech perception scores in quiet.</p><p><strong>Results: </strong>Ten CI patients were identified with TMTC2 variant rs35725509 out of 157 patients who underwent genetic testing (i.e., 6.3% of patients tested). All demonstrated progressive, bilateral hearing loss with severe-to-profound audiometric thresholds preoperatively. Pre-CI and 1-year post-CI speech recognition percent correct scores were compared. Post-CI speech perception (mean 61.0%, standard deviation 31.4%) was significantly higher than pre-CI speech perception (mean 21.0%, standard deviation 27.0%) ( p = 0.002). Individually, 9 of the 10 subjects experienced significant improvements in speech perception pre- to post-CI ( p < 0.05). Electrically evoked compound action potential measures were available for five patients, and all showed normal electrically evoked compound action potential thresholds.</p><p><strong>Conclusion: </strong>Patients with TMTC2 -associated sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony have significantly improved speech perception outcomes with cochlear implantation and should be considered candidates for this intervention if there are no other contraindications.</p>\",\"PeriodicalId\":19732,\"journal\":{\"name\":\"Otology & Neurotology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2024-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11168879/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Otology & Neurotology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MAO.0000000000004208\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/21 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Otology & Neurotology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MAO.0000000000004208","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/21 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
摘要
目的研究TMTC2相关感音神经性听力损失和听觉神经病变/听觉不同步患者的人工耳蜗植入效果:干预措施:人工耳蜗植入术:干预措施:人工耳蜗植入:主要结果测量:安静时的语音感知评分:在接受基因检测的157名患者中,有10名CI患者被确定为TMTC2基因变异体rs35725509阳性患者(占接受检测患者的6.3%)。所有患者术前均表现为进行性、双侧听力损失,听阈从严重到惊人。比较了 CI 前和 CI 后 1 年的语音识别正确率。CI 后的言语感知能力(平均 61.0%,标准差 31.4%)明显高于 CI 前的言语感知能力(平均 21.0%,标准差 27.0%)(p = 0.002)。10名受试者中,有9人的言语感知能力在CI前和CI后都有明显改善(p < 0.05)。5名患者的电诱发复合动作电位测量结果显示,所有患者的电诱发复合动作电位阈值均正常:结论:TMTC2相关感音神经性听力损失和听神经病变/听觉不同步患者在接受人工耳蜗植入术后,言语感知能力明显改善。
Cochlear Implant Outcomes in Patients With TMTC2 -Associated Sensorineural Hearing Loss and Auditory Neuropathy/Auditory Dys-Synchrony.
Objective: To investigate the outcomes of cochlear implantation in patients with TMTC2 -associated sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony.
Patients: Adult and pediatric cochlear implant (CI) patients followed in an academic center who tested positive for TMTC2 genetic variant rs35725509.
Intervention: Cochlear implantation.
Main outcome measures: Speech perception scores in quiet.
Results: Ten CI patients were identified with TMTC2 variant rs35725509 out of 157 patients who underwent genetic testing (i.e., 6.3% of patients tested). All demonstrated progressive, bilateral hearing loss with severe-to-profound audiometric thresholds preoperatively. Pre-CI and 1-year post-CI speech recognition percent correct scores were compared. Post-CI speech perception (mean 61.0%, standard deviation 31.4%) was significantly higher than pre-CI speech perception (mean 21.0%, standard deviation 27.0%) ( p = 0.002). Individually, 9 of the 10 subjects experienced significant improvements in speech perception pre- to post-CI ( p < 0.05). Electrically evoked compound action potential measures were available for five patients, and all showed normal electrically evoked compound action potential thresholds.
Conclusion: Patients with TMTC2 -associated sensorineural hearing loss and auditory neuropathy/auditory dys-synchrony have significantly improved speech perception outcomes with cochlear implantation and should be considered candidates for this intervention if there are no other contraindications.
期刊介绍:
Otology & Neurotology publishes original articles relating to both clinical and basic science aspects of otology, neurotology, and cranial base surgery. As the foremost journal in its field, it has become the favored place for publishing the best of new science relating to the human ear and its diseases. The broadly international character of its contributing authors, editorial board, and readership provides the Journal its decidedly global perspective.