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Cochlear implant referral patterns in the UK suggest a postcode lottery with inequitable access for older adults; results of a pilot audit in five Audiology sites. 英国的人工耳蜗转诊模式表明,老年人在使用人工耳蜗方面存在不公平现象;在五个听力中心进行试点审核的结果。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-11-01 Epub Date: 2024-01-27 DOI: 10.1080/14992027.2023.2298751
Helen Cullington, Ann-Marie Dickinson, Unai Martinez de Estibariz, Joseph Blackaby, Lisa Kennedy, Katie McNeill, Sara O'Neill

Objective: To use a standardised reporting tool to identify potential eligible candidates for cochlear implant (CI) referral and quantify the proportion of adults who had a CI referral discussion after presenting with an audiogram within United Kingdom (UK) audiometric criteria.

Design: Retrospective multicentre 6-month audit of Audiology clinic databases.

Study sample: A total of 810 adults from five geographically diverse UK Audiology sites.

Results: Data were collected in late 2019 after UK CI audiometric candidacy criteria changed; one site collected only 3 months of data. The proportion of potential eligible adults (based only on audiometry) considered for CI referral was 64% (521 out of 810) and varied by site (from 50% to 83%). About 24% of patients (123 out of 521) declined CI referral; this also varied across sites (12-45%). The median age of patients where CI referral was not considered was 80 years - significantly higher than the group where CI referral was considered (73 years).

Conclusions: CI referral is dependent on where adults live, and how old they are. Older adults are significantly less likely to be considered for CI referral by Audiologists. Audiology clinics need more support to empower staff to talk to patients about CI referral.

目的:使用标准化报告工具确定潜在的符合人工耳蜗转诊条件的患者,并量化在听力图符合英国标准后进行人工耳蜗转诊讨论的成人比例:使用标准化报告工具确定潜在的符合人工耳蜗植入(CI)转诊条件的候选人,并量化在听力图符合英国(UK)听力标准后进行 CI 转诊讨论的成人比例:研究样本:研究样本:来自英国五个地理位置不同的听力学诊所的共810名成年人:数据收集于英国 CI 听力测量候选标准改变后的 2019 年底;其中一个站点仅收集了 3 个月的数据。被考虑转诊为 CI 的潜在合格成人比例为 64%(810 人中有 521 人)(仅基于测听结果),各医疗点的比例有所不同(从 50% 到 83%)。约 24% 的患者(521 人中有 123 人)拒绝接受 CI 转诊;这一比例在不同地区也存在差异(12%-45%)。未考虑转诊 CI 的患者年龄中位数为 80 岁,明显高于考虑转诊 CI 的患者(73 岁):CI转诊取决于成年人的居住地和年龄。听力学家考虑转诊 CI 的老年人明显较少。听力诊所需要更多支持,以增强员工与患者讨论 CI 转诊的能力。
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引用次数: 0
Long-term follow-up of children with hearing loss that is minimally progressive. 对听力损失程度轻微的儿童进行长期随访。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-11-01 Epub Date: 2023-05-26 DOI: 10.1080/14992027.2023.2211738
Elizabeth M Fitzpatrick, Rola Hashem, JoAnne Whittingham, Flora Nassrallah

Objectives: The purpose of this study was to describe changes in audiometric thresholds over time in children whose hearing loss demonstrated early mild progression.

Design: This was a retrospective follow-up study to examine long-term audiologic results in children with progressive loss.

Study sample: We examined audiologic data for 69 children, (diagnosed from 2003 to 2013), who had been previously categorised as having "minimal" progressive hearing loss.

Results: Children had a median of 10.0 (7.5, 12.1) years of follow-up and a median age of 12.5 (IQR: 11.0, 14.5) years; 92.8%; 64 of 69) of children continued to show progressive hearing loss (defined as a decrease of ≥10 dB at two or more adjacent frequencies between 0.5 and 4 kHz or a decrease in 15 dB at one frequency) in at least one ear since diagnosis. Further examination showed that 82.8% of ears (106 of 128) had deterioration in hearing. Of the 64 children, 29.7% (19/64) showed further deterioration since the first analysis.

Conclusion: More than 90% of children identified as having minimal progressive hearing loss continued to show deterioration in hearing. Ongoing audiological monitoring of children with hearing loss is indicated to ensure timely intervention and to better counsel families.

研究目的本研究旨在描述早期轻度听力损失儿童的听阈随时间的变化情况:这是一项回顾性随访研究,目的是检查渐进性听力损失儿童的长期听力结果:我们检查了 69 名儿童(2003 年至 2013 年期间确诊)的听力数据,这些儿童之前被归类为 "轻度 "进行性听力损失:儿童的随访时间中位数为 10.0 (7.5, 12.1) 年,年龄中位数为 12.5 (IQR: 11.0, 14.5) 岁;自诊断以来,92.8% 的儿童(69 人中有 64 人)至少有一只耳朵继续出现进行性听力损失(定义为 0.5 至 4 kHz 之间的两个或两个以上相邻频率下降≥10 dB 或一个频率下降 15 dB)。进一步检查显示,82.8% 的耳朵(128 个中的 106 个)听力下降。在 64 名儿童中,有 29.7%(19/64)的儿童自第一次分析后听力进一步恶化:结论:90%以上被确定为轻度进行性听力损失的儿童听力继续恶化。对听力损失儿童进行持续的听力监测可确保及时干预,并为家庭提供更好的咨询服务。
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引用次数: 0
Do UK audiologists feel able to address the hearing, social and emotional needs of their adult patients with hearing loss. 英国听力学家是否认为自己能够满足听力损失成年患者在听力、社交和情感方面的需求。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-11-01 Epub Date: 2023-12-13 DOI: 10.1080/14992027.2023.2280454
Ella Woodward, Gabrielle H Saunders

Objective: The aim of this project was to investigate the provision of counselling in adult audiological rehabilitation and to highlight training barriers and needs.

Design: A service evaluation in which respondents completed a survey in which they rated their knowledge, confidence and competence in addressing the hearing, social and emotional needs of their patients. They were also asked to define counselling.

Sample: 64 UK practising audiologists in adult audiological rehabilitation, aged 20->60 years (84% females, 16% males), with a range of years in clinical practice.

Results: Counselling definitions fell into three main categories: the audiologist as the doer, the audiologist as the facilitator, and the audiologist and patient as partners. Respondents reported feeling more able to counsel the hearing related needs of their patients, than emotional or social needs. There were significant positive statistical associations between counselling training completed and self-rated counselling abilities for managing emotional needs. Clinical experience was not associated with self-rated counselling. Lack of supervision and training were identified as some of the main barriers to providing emotional support. Almost all respondents reported a desire for further training in delivering emotional support, with the belief that this would improve services and patient outcomes.

Conclusions: UK audiologists demonstrated person-centred thinking through their definitions of counselling. However, they reported significant barriers in being able to support the needs of adults with hearing loss. Training needs around emotional support in audiology counselling are not currently being met. It is important for clinical training programmes to address this gap by incorporating more counselling courses into their curricula.

目的本项目旨在调查在成人听力康复中提供咨询的情况,并强调培训障碍和需求:设计:一项服务评估,受访者填写一份调查问卷,对自己在满足患者听力、社会和情感需求方面的知识、信心和能力进行评分。样本:64 名英国从事成人听力康复的听力学家,年龄在 20-60 岁之间(84% 为女性,16% 为男性),临床工作年限不等:咨询定义主要分为三类:听力学家是行动者、听力学家是促进者、听力学家和患者是合作伙伴。受访者表示,与情感或社会需求相比,他们更有能力为患者提供听力相关需求方面的咨询服务。已完成的咨询培训与管理情感需求的自评咨询能力之间存在明显的正相关。临床经验与自我评估的咨询能力无关。缺乏监督和培训被认为是提供情感支持的一些主要障碍。几乎所有受访者都表示希望在提供情感支持方面接受进一步培训,并相信这将改善服务和患者疗效:结论:英国听力学家对咨询的定义体现了以人为本的思想。结论:英国听力学家通过他们对咨询的定义体现了以人为本的思想,但他们表示在满足成年听力损失患者的需求方面存在很大障碍。听力咨询中有关情感支持的培训需求目前尚未得到满足。临床培训课程必须将更多咨询课程纳入其课程体系,以弥补这一不足。
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引用次数: 0
A comparison of automated verification using paediatric hearing aids. 使用儿科助听器进行自动验证的比较。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-11-01 Epub Date: 2023-11-09 DOI: 10.1080/14992027.2023.2272560
Shanelle Canavan, Laura McNerlin, Piers Dawes, Georgina Parry, Garreth Prendergast

Objective: Best-practice guidelines recommend the use of hearing aid verification in children; however, this is not always performed. Automated hearing aid verification has been reported to be more accurate and efficient than manual verification in adults, but it is not known if this transfers to the paediatric population.

Design: A within-group design compared manual and automated hearing aid verification on four measures; fitting accuracy, prescription targets, completion time, and the speech intelligibility index.

Sample: Twenty paediatric patient hearing aid profiles (M = 8.25 years) with unilateral or bilateral hearing aids.

Results: A Wilcoxon-signed rank test indicated manual verification achieved a significantly closer match to target at 0.5 kHz, by an average of 1 dB. There were no significant differences at any other frequency. Across 80 comparisons (four frequencies measured in 20 listeners), 82.5% of automated verifications were identical to, or within 1 dB of, manual verifications. A paired-samples t-test confirmed automated verification to be an average of 91.9 seconds faster than manual verification.

Conclusion: Automated verification was able to provide an accurate match to target within recommended tolerances for hearing aid fittings and was significantly quicker than manual verification. These data suggest that automated verification of hearing aids could play a role in paediatric audiological management.

目标:最佳实践指南建议在儿童中使用助听器验证;然而,这并不总是执行的。据报道,在成人中,自动助听器验证比手动验证更准确、更高效,但尚不清楚这种验证是否会转移到儿科人群中。设计:组内设计比较了手动和自动助听器在四个方面的验证;拟合精度、处方目标、完成时间和语音清晰度指数。样本:20名儿科患者助听器档案(M = 8.25 年)使用单侧或双侧助听器。结果:Wilcoxon符号秩检验表明,手动验证在0.5时与目标的匹配明显更接近 kHz,平均1 dB。在任何其他频率上都没有显著差异。在80次比较中(在20名听众中测量到4个频率),82.5%的自动验证与1相同或在1以内 dB,手动验证。配对样本t检验证实自动验证的平均值为91.9 比手动验证快秒。结论:自动验证能够在助听器配件的推荐公差范围内提供与目标的准确匹配,并且明显快于手动验证。这些数据表明,助听器的自动验证可以在儿科听力学管理中发挥作用。
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引用次数: 0
Dissociable effects of hyperacusis and misophonia severity imply different mechanisms of decreased sound tolerance. 听力障碍和失音症严重程度的不同影响意味着声音耐受性下降的机制不同。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-10-31 DOI: 10.1080/14992027.2024.2419558
Rebecca Smees, Julia Simner, Derek J Hoare, Jamie Ward

Objective: It is thought that decreased sound tolerance can be subdivided into distinct types including misophonia (involving specific trigger sounds) and hyperacusis (broader in profile). However, there are few established methods for differentially assessing these disorders and this is complicated by the fact that some measures (e.g. the HQ Hyperacusis Questionnaire) were developed before the concept of misophonia was accepted.

Design/study sample: We took a group of N = 119 participants with misophonia (varying in severity) and asked them about the presence of hyperacusis (based on a scoping review definition).

Results: Scores for some items on the HQ were correlated with scores for misophonia severity (e.g. social impact of sound) and others with scores for hyperacusis (e.g. ability to concentrate in noise). Similarly, some trigger sounds were more indicative of hyperacusis (e.g. dishes being stacked) and others were more indicative of misophonia in the absence of hyperacusis (e.g. chewing).

Conclusions: These double dissociations provide compelling evidence for separable forms of sound intolerance. Moreover, our research suggests that a single-item question about hyperacusis is associated with other characteristics of hyperacusis, even when assessed 18 months later.

目的:人们认为,声音耐受力下降可以细分为不同的类型,包括失音(涉及特定的触发声音)和听力亢进(范围更广)。然而,目前很少有成熟的方法来对这些疾病进行不同的评估,而且有些测量方法(如 HQ 多听症问卷)是在误听症的概念被接受之前制定的,这使得评估变得更加复杂:设计/研究样本:我们抽取了 N = 119 名患有失音症(严重程度不一)的参与者,询问他们是否存在听力障碍(基于范围审查定义):结果:HQ 某些项目的得分与失音症严重程度的得分相关(如声音的社会影响),而其他项目的得分与听力障碍的得分相关(如在噪音中集中注意力的能力)。同样,一些触发声音更能说明听力亢进(如碗碟叠放),而另一些触发声音则更能说明在没有听力亢进的情况下的失音(如咀嚼):结论:这些双重分离为可分离的声音不耐受形式提供了有力的证据。此外,我们的研究表明,即使在 18 个月后进行评估,有关听力障碍的单项问题也与听力障碍的其他特征相关。
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引用次数: 0
Early identification of potential occupational noise-induced hearing loss: a systematic review. 早期识别潜在的职业噪声引起的听力损失:系统综述。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-10-28 DOI: 10.1080/14992027.2024.2418354
Nyasha Makaruse, Mike R D Maslin, Ziva Shai Campbell

Objective: This systematic review addressed two questions: 1) For which audiometric test frequencies or pure tone averages are hearing threshold levels (HTLs) most susceptible to early occupational noise induced hearing loss (NIHL) before significant damage? 2) Which early flag metric best detects early hearing shifts due to noise for occupational NIHL surveillance?

Design: Systematic searches were conducted in Ovid MEDLINE(R) and Embase from July 2021 to May 2024. Eligibility was screened by two independent reviewers using Covidence. HTL results were analysed for susceptibility to noise-induced changes, and sensitivity and specificity of early flag metrics were assessed.

Study sample: Of 175 studies retrieved, 18 met the inclusion criteria.

Results: Ten studies emphasised the importance of testing at frequencies above 8 kHz, with HTLs at 12, 14, and 16 kHz frequently identified as the most noise susceptible. Conventional frequencies of 3-6 kHz were also noted as susceptible. NIOSH and OSHA metrics had low sensitivity and specificity, but modifications improved their performance to 100% sensitivity and 98% specificity.

Conclusion: The review highlights the need to refine current metrics and explore extended high frequencies for NIHL monitoring. Research is required to determine frequencies for warning metrics and sensitive metrics for early occupational NIHL detection.

目的本系统综述探讨了两个问题:1)对于哪些听力测试频率或纯音平均值,听力阈值水平(HTLs)最容易受到早期职业性噪声诱发听力损失(NIHL)的影响,而不会造成重大损害?2)在职业性 NIHL 监测中,哪种早期标志指标最能检测出噪声导致的早期听力损失?从 2021 年 7 月至 2024 年 5 月,在 Ovid MEDLINE(R) 和 Embase 中进行了系统检索。由两名独立审稿人使用 Covidence 进行资格筛选。对高密度脂蛋白检测结果进行了分析,以确定其是否易受噪声引起的变化影响,并评估了早期标志指标的敏感性和特异性:研究样本:在检索到的 175 项研究中,有 18 项符合纳入标准:结果:10 项研究强调了在 8 kHz 以上频率进行测试的重要性,其中 12、14 和 16 kHz 的 HTL 经常被认为是最易受噪声影响的频率。3-6 千赫的传统频率也被认为是易受影响的频率。NIOSH 和 OSHA 指标的灵敏度和特异性较低,但经过修改后,其灵敏度和特异性分别提高到 100%和 98%:综述强调有必要完善当前的衡量标准,并探索用于监测 NIHL 的扩展高频率。需要开展研究,以确定预警指标的频率和早期职业性 NIHL 检测的敏感指标。
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引用次数: 0
Exploring adult hearing aid user experiences: meaning extraction methods, content patterns, and associations with demographic and outcome variables. 探索成人助听器用户体验:意义提取方法、内容模式以及与人口统计学和结果变量的关联。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-10-26 DOI: 10.1080/14992027.2024.2415958
Ilze Oosthuizen, De Wet Swanepoel, Ryan L Boyd, James W Pennebaker, Stefan Launer, Vinaya Manchaiah

Objective: Employing automated language analysis, specifically Meaning Extraction Method (MEM) and Principal Component Analysis (PCA), to identify key factors in open-text responses about hearing aid experiences.

Design: Exploratory, cross-sectional design, using an online questionnaire. Responses to a single open-ended question were analysed using MEM, PCA, regression, and correlation analyses.

Study sample: Participants (n = 538) included adult hearing aid users sampled from the Hearing Tracker website community and Lexie Hearing user databases in the United States.

Results: The MEM-derived items revealed six factors related to hearing aid experiences: (1) life change, (2) social situation, (3) quality of life, (4) impact and speech understanding, (5) communication and interaction, and (6) music and environmental sounds. IOI-HA item 3 had the most statistically significant correlations with PCA factors. Quantile regression revealed that factors one and two significantly predicted the IOI-HA total score. Positive correlations were observed between self-reported hearing difficulty and factors one, four, and five, as well as between factor one and general health and factor two and physical activity.

Conclusion: Natural language analysis of open-ended textual responses can offer valuable insights into hearing aid users' experiences. Future studies should aim to refine this methodology to enhance clinical relevance and generalisability.

目的:采用自动语言分析法,特别是意义提取法(MEM)和主成分分析法(PCA):采用自动语言分析法,特别是意义提取法(MEM)和主成分分析法(PCA),找出有关助听器使用体验的开放文本回答中的关键因素:探索性横断面设计,使用在线问卷。研究样本:参与者(n = 538)包括从美国 Hearing Tracker 网站社区和 Lexie Hearing 用户数据库中抽取的成年助听器用户:MEM 衍生项目揭示了与助听器体验相关的六个因素:(1) 生活变化,(2) 社会状况,(3) 生活质量,(4) 影响和言语理解,(5) 沟通和互动,以及 (6) 音乐和环境声音。IOI-HA 第 3 项与 PCA 因子的相关性在统计上最为显著。量子回归显示,因子一和因子二对 IOI-HA 总分有明显的预测作用。在自我报告的听力困难与因子一、四和五之间,以及因子一与一般健康和因子二与体育活动之间,都观察到了正相关性:对开放式文本回答的自然语言分析可以为了解助听器使用者的经历提供宝贵的信息。未来的研究应致力于完善这一方法,以提高临床相关性和普遍性。
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引用次数: 0
A new objective method to estimate the charge integration efficiency in cochlear implant users. 估算人工耳蜗用户电荷整合效率的新客观方法。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-10-25 DOI: 10.1080/14992027.2024.2417243
Palani Saravanan, Jawahar Antony P, Megha, Chinnaraj Geetha, Puttabasappa Manjula

Objective: The present study aimed to objectively assess the charge integration efficiency (CIE) of the auditory nerve using electrically-evoked stapedial reflex threshold (eSRT) measurements in paediatric cochlear implant users.

Design: The eSRT was estimated in two ways: by keeping pulse width constant while increasing pulse amplitude and vice versa. The electrical dynamic range (EDR) obtained for eSRT was measured with increasing pulse amplitude (EDRPA) and pulse width (EDRPW) by calculating the difference in charge units between eSRT and behavioural thresholds; further, CIE was estimated.

Study sample: Fifteen paediatric cochlear implant users.

Results: EDRPW was 1.4 to 1.7 times larger than EDRPA. The EDRPW was significantly greater than the EDRPA. A significant correlation was observed between both EDR measures. However, the CIE measure did not significantly correlate with the behavioural threshold. Further, there was no significant effect of electrode location on the CIE.

Conclusions: The CIE estimated with objective measures such as eSRT is comparable to those estimated using behavioural loudness judgments. eSRT can serve as a quick method to estimate the CIE, which can be easily implemented in the paediatric population. The CIE could be a valuable tool for differentiating electrodes with excellent and poor charge integration efficiency.

研究目的本研究旨在通过对小儿人工耳蜗使用者进行电诱发镫骨反射阈值(eSRT)测量,客观评估听神经的电荷整合效率(CIE):设计:通过两种方法估算 eSRT:保持脉冲宽度不变,同时增加脉冲振幅,反之亦然。通过计算 eSRT 和行为阈值之间的电荷单位差异,测量 eSRT 在脉冲振幅(EDRPA)和脉冲宽度(EDRPW)增加时获得的电动态范围(EDR);此外,还估算了 CIE:研究样本:15 名儿童人工耳蜗用户:结果:EDRPW 是 EDRPA 的 1.4 至 1.7 倍。EDRPW 明显大于 EDRPA。两种 EDR 测量之间存在明显的相关性。然而,CIE 测量与行为阈值没有明显的相关性。此外,电极位置对 CIE 没有明显影响:使用 eSRT 等客观测量方法估算的 CIE 与使用行为响度判断估算的 CIE 相当。CIE 可以作为区分电荷整合效率优劣电极的重要工具。
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引用次数: 0
Good cochlear implantation outcomes in subjects with mono-allelic WFS1-associated sensorineural hearing loss - a case series. 单等位基因 WFS1 相关感音神经性听力损失患者的人工耳蜗植入效果良好--病例系列。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-10-18 DOI: 10.1080/14992027.2024.2411579
M L A Fehrmann, C P Lanting, L Haer-Wigman, E A M Mylanus, W J Huinck, R J E Pennings

Objective: This study aimed to evaluate long-term cochlear implant (CI) outcomes in individuals with mono-allelic pathogenic variants in WFS1, which is associated with both Wolfram-like syndrome and DFNA6/14/38.

Design: Retrospective case series.

Study sample: Seven CI recipients, ranging from eight months to 58 years of age, were included in the study, including four with Wolfram-like syndrome and three with DFNA6/14/38. A total of ten cochlear implantations were performed among these subjects.

Results: At one-year post-implantation, a mean phoneme score of 90 ± 9% at 65 dB SPL in quiet was found, which remained stable up to ten years post-implantation with a mean phoneme score of 94 ± 6%. Despite these excellent outcomes, one subject achieved no speech recognition with CI and eventually became a non-user. This individual had a prolonged absence of auditory stimulation prior to implantation and encountered multiple challenges during rehabilitation.

Conclusion: Individuals with Wolfram-like syndrome or DFNA6/14/38 demonstrate consistently good outcomes following implantation, which remain stable over time. These findings affirm cochlear implantation as an effective rehabilitation option for these individuals. Furthermore, the stable and good CI outcomes contradict the suggested link between WFS1-associated sensorineural hearing loss and auditory neuropathy.

目的:本研究旨在评估WFS1单等位基因致病变体(与沃尔夫拉姆样综合征和DFNA6/14/38相关)患者植入人工耳蜗(CI)后的长期疗效:研究样本研究样本:七名人工耳蜗植入者,年龄从八个月到 58 岁不等,其中四人患有沃尔夫拉姆样综合征,三人患有 DFNA6/14/38。这些受试者共进行了十次人工耳蜗植入手术:植入后一年,安静时 65 dB SPL 的平均音素分数为 90 ± 9%,这一分数在植入后十年保持稳定,平均音素分数为 94 ± 6%。尽管取得了这些优异成绩,但仍有一名受试者在使用 CI 后无法识别语音,最终成为了一名非使用者。该患者在植入前长期缺乏听觉刺激,在康复过程中遇到了多重挑战:结论:沃尔夫拉姆样综合征或 DFNA6/14/38 患者在植入人工耳蜗后一直表现出良好的疗效,并且随着时间的推移保持稳定。这些研究结果肯定了人工耳蜗植入是这些患者有效的康复选择。此外,稳定而良好的 CI 效果与 WFS1 相关感音神经性听力损失和听觉神经病之间的联系相矛盾。
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引用次数: 0
Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population. 儿童期感音神经性听力损失的临床和遗传特征揭示了相关表型以及芬兰人群中致病基因突变的富集。
IF 1.8 3区 医学 Q2 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Pub Date : 2024-10-18 DOI: 10.1080/14992027.2024.2402840
Minna Kraatari-Tiri, Tyrni Pykälainen, Pia Pohjola, Sanna Häkli, Elisa Rahikkala

Objective: To examine the clinical and genetic characteristics of childhood-onset bilateral sensorineural hearing loss (SNHL) in Finland.

Design: Retrospective analysis.

Study sample: A total of 249 children younger than 18 years were diagnosed with bilateral SNHL in Oulu University Hospital, Finland, from 2017 to 2022.

Results: Pathogenic or likely pathogenic gene variants or chromosome abnormalities explaining SNHL were identified in 41% (N = 101/249) of children. Likely causative variants were more commonly identified in patients with severe SNHL than in those with moderate or mild SNHL. Our study identified likely causative gene variants in 24 different genes and six different likely causative chromosome abnormalities, demonstrating the genetic heterogeneity of SNHL. Population-enriched founder mutations were identified in the CABP2, CLRN1, MYO7A, SUCLA2, TMC1, and TWNK genes. A significant number of patients had associated phenotypes, including global developmental delay or intellectual disability (16%), language disorder (20%), ophthalmological abnormalities (16%), or malformations other than those involving the ear (10%).

Conclusions: SNHL is genetically and clinically heterogeneous. Pathogenic variants in GJB2 were the most common. Several population-enriched variants were identified as causing SNHL in the northern Finnish population. Associated medical phenotypes are common and should be taken into account in patients' follow-up and treatment.

目的:研究芬兰儿童期双侧感音神经性听力损失(SNHL)的临床和遗传特征:研究芬兰儿童期双侧感音神经性听力损失(SNHL)的临床和遗传特征:研究样本2017年至2022年,芬兰奥卢大学医院共诊断出249名18岁以下儿童患有双侧SNHL:在41%的儿童(N = 101/249)中发现了可解释SNHL的致病或可能致病基因变异或染色体异常。与中度或轻度SNHL患者相比,重度SNHL患者中更常发现可能的致病变异。我们的研究发现了 24 个不同基因的可能致病基因变异和 6 个不同的可能致病染色体异常,这表明了 SNHL 的遗传异质性。在CABP2、CLRN1、MYO7A、SUCLA2、TMC1和TWNK基因中发现了富集人群的创始基因突变。大量患者出现相关表型,包括全面发育迟缓或智力障碍(16%)、语言障碍(20%)、眼科异常(16%)或耳部以外的畸形(10%):结论:SNHL在遗传和临床上具有异质性。GJB2中的致病变异最为常见。在芬兰北部人群中,有几种致病变体被确认为可导致SNHL。相关的医学表型很常见,应在患者的随访和治疗中加以考虑。
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International Journal of Audiology
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