Deafness

耳聋
  • 文章类型: Journal Article
    背景:从视觉上获得的感官信息,体感,前庭系统负责调节姿势控制,如果这些感觉系统中的一个或多个发生损伤,姿势控制可能会改变。
    目的:评估和比较听力正常和感觉神经性听力损失(SNHL)儿童的姿势摇摆速度,按性别和年龄组相匹配,比较听力正常儿童和SNHL儿童的姿势摇摆速度,有和没有前庭功能障碍。
    方法:横断面研究评估了130名儿童(65名听力正常,65名SNHL),男女年龄在7至11岁之间,卡鲁鲁市的公立学校,伯南布哥州,巴西。通过力平台评估压力中心(COP)的姿势摇摆速度,在两个方向上,前外侧(AP)和中外侧(ML),在三个位置,即双足支撑与脚在一起和平行(平行脚(PF)),双足支撑,一只脚在另一只脚前面(串联脚(TF)),和单腿支撑(一只脚(OF)),用睁开眼睛和闭眼睛进行评估。
    结果:在评估的所有位置,与听力正常的儿童相比,SNHL儿童表现出更大的姿势摇摆速度,在AP方向上存在显著差异,睁开眼睛(PF:p=0.001;TF:p=0.000;OF:p=0.003)和闭合(PF:p=0.050;TF:p=0.005)。同样发生在ML方向,睁开眼睛(PF:p=0.001;TF:p=0.000;OF:p=0.001)和闭合(PF:p=0.002;TF:p=0.000)。前庭功能也发生了同样的情况,在评估的所有位置中,与听力正常的儿童相比,患有SNHL并伴有前庭功能障碍的儿童表现出更大的姿势摇摆速度,表明AP方向存在显著差异,睁开眼睛(TF:p=0.001;OF:p=0.029)和闭眼(PF:p=0.036;TF:p=0.033)。同样发生在ML方向,睁开眼睛(TF:p=0.000)和闭眼(PF:p=0.008;TF:p=0.009)。
    结论:在评估的所有方向上,SNHL患儿的姿势控制比听力正常的患儿更不稳定。在这项研究中,患有SNHL和相关前庭功能障碍的儿童表现出姿势控制的最大不稳定性。
    BACKGROUND: Sensory information obtained from the visual, somatosensory, and vestibular systems is responsible for regulating postural control, and if damage occurs in one or more of these sensory systems, postural control may be altered.
    OBJECTIVE: To evaluate and compare the postural sway velocity between children with normal hearing and with sensorineural hearing loss (SNHL), matched by sex and age group, and to compare the postural sway velocity between children with normal hearing and with SNHL, with and without vestibular dysfunction.
    METHODS: Cross-sectional study that evaluated 130 children (65 with normal hearing and 65 with SNHL), of both sexes and aged between 7 and 11 years, from public schools of the city of Caruaru, Pernambuco state, Brazil. The postural sway velocity of the center of pressure (COP) was assessed by a force platform, in two directions, anteroposterior (AP) and mediolateral (ML)), in three positions, namely bipedal support with feet together and parallel (parallel feet (PF)), bipedal support with one foot in front of the other (tandem foot (TF)), and single-leg support (one foot (OF)), evaluated with the eyes open and closed.
    RESULTS: Children with SNHL demonstrated greater postural sway velocity compared to children with normal hearing in all the positions evaluated, with significant differences in the AP direction, with the eyes open (PF: p = 0.001; TF: p = 0.000; OF: p = 0.003) and closed (PF: p = 0.050; TF: p = 0.005). The same occurred in the ML direction, with the eyes open (PF: p = 0.001; TF: p = 0.000; OF: p = 0.001) and closed (PF: p = 0.002; TF: p = 0.000). The same occurred in relation to vestibular function, where the children with SNHL with an associated vestibular dysfunction demonstrated greater postural sway velocity compared to children with normal hearing in all the positions evaluated, demonstrating significant differences in the AP direction, with the eyes open (TF: p = 0.001; OF: p = 0.029) and eyes closed (PF: p = 0.036; TF: p = 0.033). The same occurred in the ML direction, with the eyes open (TF: p = 0.000) and with the eyes closed (PF: p = 0.008; TF: p = 0.009).
    CONCLUSIONS: Children with SNHL demonstrated greater instability of postural control than children with normal hearing in all the directions assessed. Children with SNHL and an associated vestibular dysfunction demonstrated the greatest instability of postural control in this study.
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  • 文章类型: Journal Article
    This text presents the partial results of ongoing research into deafness in history teaching and historiography between 2015 and 2022. The study problematizes the place of disabled people in top-ranking periodicals (the top two categories in Brazil) and in pedagogical projects on degree courses in history (with and without teacher-training certification) at the University of São Paulo and the State University of Campinas. These universities were chosen because they topped the ranking in a survey conducted by Folha de S.Paulo newspaper. The study observes how the Brazilian Inclusion Law (law 13.146, of July 6, 2015) is incorporated into the initial training of these professionals.
    O texto aponta resultados parciais de uma pesquisa em andamento sobre a surdez no ensino de história e na produção historiográfica entre 2015 e 2022. O trabalho problematiza o lugar da pessoa com deficiência nos periódicos A1 e A2 e nos projetos pedagógicos de cursos de graduação em história (formação de professores e pesquisadores) da Universidade de São Paulo e da Universidade Estadual de Campinas, por conta de serem indicadas como as mais bem posicionadas no ranking de uma pesquisa realizada pela Folha de S.Paulo, levando-se em conta os critérios de articulação entre a Lei Brasileira de Inclusão, lei 13.146, de 6 de julho de 2015, e a formação inicial desses profissionais.
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  • 文章类型: Journal Article
    据报道,动物辅助服务的积极成果引起了人们对人类与动物互动的许多不同方面的兴趣。辅助动物的影响被认为包括具有严重健康损害的人的生活中的几个心理社会领域。然而,人们对听力犬与其主人之间关系的潜在机制知之甚少。使用书面问卷方法进行的前瞻性研究设计用于调查58名当前和23名未来的澳大利亚狮子听力犬的主人。宠物期望清单(PEI)用于调查听力犬在听力损失/耳聋的候补名单中的预期作用,而列克星敦宠物依恋量表(LAPS)是由当前所有者完成的,以评估情感依恋。结果显示平均PEI得分较高(M=73.1,SD=10.9,Mdn=73.0,范围:55-91),与潜在的业主强烈期望听力狗的角色包括陪伴/爱和安全。此外,强烈的依恋特征在业主与听力犬的关系中很明显,如高总LAPS评分(M=81.2,SD=7.5,范围:63-91)所示。“人员替代”类别中的陈述的平均得分最高(范围=3.6/4.00-3.9/4.00)。在这个人口统计学上同质的研究队列中,看来,潜在的听力犬主人对其动物的支持作用超出听力援助的高期望应该是可以实现的,听力狗和它们的主人之间表现出的强烈的依恋关系证明了这一点。
    The reported positive outcomes of animal-assisted services have led to an emerging interest in many different aspects of human-animal interactions. The influence of an assistance animal is thought to encompass several psychosocial domains in the life of a person with a significant health impairment. However, little is known about the mechanisms underlying the relationship between Hearing Dogs and their owners. A prospective study design using a written questionnaire method was utilized to survey 58 current and 23 prospective Australian Lions Hearing Dogs owners. The Pet Expectations Inventory (PEI) was used to investigate the anticipated role of Hearing Dogs in waitlisted persons with hearing loss/Deafness, whereas the Lexington Attachment to Pets Scale (LAPS) was completed by current owners to assess emotional attachment. The results revealed a high mean PEI score (M = 73.1, SD = 10.9, Mdn = 73.0, range: 55-91), with prospective owners strongly expecting the role of Hearing Dogs to include companionship/love and security. Furthermore, strong attachment features were evident in the owners\' relationships with Hearing Dogs, as demonstrated by a high total LAPS score (M = 81.2, SD = 7.5, range: 63-91). Mean scores for statements within the \"people substitution\" category were highest (range = 3.6/4.00-3.9/4.00). In this demographically homogenous study cohort, it appeared that the high expectations of potential Hearing Dog owners for their animals to serve supportive roles beyond hearing assistance should be achievable, as evidenced by the strong attachment relationships displayed between Hearing Dogs and their owners.
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  • 文章类型: Journal Article
    而光谱分辨率之间的关系,时间分辨率,在有人工耳蜗(CI)的成年人中,语音识别得到了很好的定义,对于使用CI的语言前耳聋的儿童,它们没有很好的定义,正在进行语言开发的人。这项横断面研究旨在通过全面测量光谱分辨率阈值(通过光谱调制检测测量),更好地表征大量语前耳聋儿童与CI(N=47;平均年龄=8.33岁)的这些关系,时间分辨率阈值(通过正弦幅度调制检测测量),和语音识别(通过单音节单词识别测量,元音识别,并通过固定的信噪比(SNR)和自适应变化的SNR在噪声中进行句子识别)。结果表明,对于有CI的儿童,在安静或噪声中,频谱或时间分辨率与语音识别均无明显相关性。年龄和CI经验对光谱分辨率都有中等影响,在0.5cyc/oct的调制速率下对光谱调制检测具有显著影响,表明光谱分辨率可能会随着成熟而提高。因此,对于有CI的儿童,随着时间的推移,我们可能会看到频谱分辨率和语音感知之间正在出现的关系。虽然有必要对这种关系进行进一步调查,这些研究结果表明,需要进行新的研究,以发现改善CI患儿光谱分辨率的方法.
    While the relationships between spectral resolution, temporal resolution, and speech recognition are well defined in adults with cochlear implants (CIs), they are not well defined for prelingually deafened children with CIs, for whom language development is ongoing. This cross-sectional study aimed to better characterize these relationships in a large cohort of prelingually deafened children with CIs (N = 47; mean age = 8.33 years) by comprehensively measuring spectral resolution thresholds (measured via spectral modulation detection), temporal resolution thresholds (measured via sinusoidal amplitude modulation detection), and speech recognition (measured via monosyllabic word recognition, vowel recognition, and sentence recognition in noise via both fixed signal-to-noise ratio (SNR) and adaptively varied SNR). Results indicated that neither spectral or temporal resolution were significantly correlated with speech recognition in quiet or noise for children with CIs. Both age and CI experience had a moderate effect on spectral resolution, with significant effects for spectral modulation detection at a modulation rate of 0.5 cyc/oct, suggesting spectral resolution may improve with maturation. Thus, it is possible we may see an emerging relationship between spectral resolution and speech perception over time for children with CIs. While further investigation into this relationship is warranted, these findings demonstrate the need for new investigations to uncover ways of improving spectral resolution for children with CIs.
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  • 文章类型: Journal Article
    这项多中心研究检查了9至11个月大的儿童人工耳蜗植入的安全性和有效性。预期的影响是支持有关儿科人工耳蜗候选人的候选人资格评估和预后咨询的实践。分析中包括了在美国和加拿大的五个人工耳蜗植入中心使用人工耳蜗有限公司设备在9-11个月大的儿童的临床图表中的数据。该研究包括2012年1月1日至2017年12月31日(队列1,n=83)或2018年1月1日至2020年5月15日(队列2,n=50)期间植入一个或两个Nucleus设备的两个队列的数据。监测植入后2年内的主要不良事件(需要另一次手术/住院治疗)和次要不良事件(单独使用药物治疗或接受不需要手术或住院的预期疗程),并通过听力测定阈值和父母报告来衡量结果收集IT-MAIS和LittlEARS问卷。结果显示,41名儿童发生了60起不良事件,植入了227只耳朵(26%),其中11名儿童发生了14起主要事件;所有事件都是暂时的并已解决。所有结果指标均显示使用人工耳蜗改善听力。研究结果表明,该程序对婴儿是安全的,并且它们显示出人工耳蜗植入的明显益处,包括增加的听觉和听力发育。
    This multi-center study examined the safety and effectiveness of cochlear implantation of children between 9 and 11 months of age. The intended impact was to support practice regarding candidacy assessment and prognostic counseling of pediatric cochlear implant candidates. Data in the clinical chart of children implanted at 9-11 months of age with Cochlear Ltd devices at five cochlear implant centers in the United States and Canada were included in analyses. The study included data from two cohorts implanted with one or two Nucleus devices during the periods of January 1, 2012-December 31, 2017 (Cohort 1, n = 83) or between January 1, 2018 and May 15, 2020 (Cohort 2, n = 50). Major adverse events (requiring another procedure/hospitalization) and minor adverse events (managed with medication alone or underwent an expected course of treatment that did not require surgery or hospitalization) out to 2 years post-implant were monitored and outcomes measured by audiometric thresholds and parent-reports on the IT-MAIS and LittlEARS questionnaires were collected. Results revealed 60 adverse events in 41 children and 227 ears implanted (26%) of which 14 major events occurred in 11 children; all were transitory and resolved. Improved hearing with cochlear implant use was shown in all outcome measures. Findings reveal that the procedure is safe for infants and that they show clear benefits of cochlear implantation including increased audibility and hearing development.
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    文章类型: Journal Article
    目的:确定非综合征性听力损失(NSHL)患者中致病变异的频谱和频率,并研究应用的遗传方法的诊断率。
    方法:该研究招募了306名儿童期发病的无关患者,在2006年3月至2023年10月之间,轻度至深度的NSHL转诊至萨格勒布儿童医院进行基因检测。用多重连接依赖性探针扩增方法和GJB2基因编码区的Sanger测序分析GJB2变体。在21例GJB2双等位基因变异阴性的患者中,进行临床外显子组测序(CES).
    结果:在检测到的234个疾病相关GJB2等位基因中,19是临床相关的,其中18例报告为致病性/可能致病性。c.35delG变体占突变等位基因的73.5%。超过一半的具有双等位基因GJB2变体的患者(64/110,58.2%)是35delG纯合子。在10个基因中发现了17种非GJB2变体(TECTA,NOG,SLC26A4,PCDH15,TMPRSS3,USH2A,GATA3,MYO15A,SOX10,COL2A1)在11名参与者中,和5个变体(在TECTA中,NOG,PCDH15和SOX10)是新的(29.4%)。
    结论:我们能够阐明121例患者听力损失的遗传原因,总体诊断率为39.5%。c.35delG是最常见的变体。CES使我们能够诊断几乎一半的HL患者;在表型不明确或从小就没有症状的情况下,将NSHL与HL的综合征形式区分开来;并发现新的变体。
    OBJECTIVE: To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods.
    METHODS: The study enrolled 306 unrelated patients with childhood-onset, mild-to-profound NSHL referred to Children\'s Hospital Zagreb for genetic testing between March 2006 and October 2023. The GJB2 variants were analyzed with the multiplex ligation-dependent probe amplification method and Sanger sequencing of the coding region of the GJB2 gene. In 21 patients negative for GJB2 biallelic variants, clinical exome sequencing (CES) was performed.
    RESULTS: Among 234 disease-associated GJB2 alleles detected, 19 were clinically relevant, of which 18 were reported as pathogenic/likely pathogenic. The c.35delG variant accounted for 73.5% of the mutated alleles. More than half of the patients with biallelic GJB2 variants (64/110, 58.2%) were 35delG homozygotes. Seventeen non-GJB2 variants were found in 10 genes (TECTA, NOG, SLC26A4, PCDH15, TMPRSS3, USH2A, GATA3, MYO15A, SOX10, COL2A1) in 11 participants, and 5 variants (in TECTA, NOG, PCDH15, and SOX10) were novel (29.4%).
    CONCLUSIONS: We were able to elucidate the genetic cause of hearing loss in 121 patients, with an overall diagnostic rate of 39.5%. The c.35delG was the most common variant. CES allowed us to diagnose almost half of the patients with HL; to distinguish NSHL from the syndromic form of HL in cases where the phenotype was unclear or where symptoms were absent from an early age; and to discover novel variants.
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  • 文章类型: Journal Article
    目标:折射错误,弱视,斜视,与听力障碍儿童相比,低视力在听力障碍儿童中更为常见。忽视视觉障碍会给这些孩子带来教育和社会问题。本研究旨在评估屈光不正的患病率,弱视,斜视,克尔曼沙的听力受损和聋哑学生视力低下。
    方法:共有79名7-20岁(平均年龄15.01±2.72岁)的聋哑和听障学生接受了验光检查,包括自动折射,视网膜镜检查,检眼镜,裂隙灯,视敏度测量,和遮盖-揭开测试。那些需要进一步评估的人被转诊到伊玛目霍梅尼医院的眼科诊所。
    结果:关于屈光不正的患病率,32名(40.5%)受试者有一种或多种屈光不正,其中最常见的是散光(36.7%),其次是弱视(15.1%)。最常见的斜视类型是潜在斜视(异斜视)(88.6%),其次是外照菌(81%)。此外,3例(3.7%)有眼球震颤。弱视患病率和听力损失程度之间存在显着差异(P=0.026)。其他病例无明显差异。
    结论:所获得的结果证明,屈光不正,弱视,斜视,与正常儿童相比,聋哑儿童和听力受损儿童的低视力更为普遍,因为聋哑儿童和听力受损儿童无法传达他们的视力问题,需要通过增强视力来弥补他们的听力不佳,忽视这些疾病会给这些孩子带来严重的教育和社会问题。因此,眼睛筛查检查对聋哑和听障儿童至关重要。
    OBJECTIVE: Refractive errors, amblyopia, strabismus, and low vision are more common among children with hearing impairments in comparison with their hearing peers. Neglecting visual disorders can pose educational and social problems for these children. The present study aimed to assess the prevalence of refractive errors, amblyopia, strabismus, and low vision among hearing-impaired and deaf students in Kermanshah.
    METHODS: A total of 79 deaf and hearing impaired students within the age range of 7-20 years (mean age of 15.01 ± 2.72) underwent optometric examinations, including autorefractometry, retinoscopy, ophthalmoscopy, slit lamp, visual acuity measurement, and cover-uncover test. Those who needed further evaluation were referred to the Ophthalmology Clinic of Imam Khomeini Hospital.
    RESULTS: Regarding the prevalence of refractive errors, 32 (40.5%) subjects had one or a combination of refractive errors, the most common of which was astigmatism (36.7%), followed by amblyopia (15.1%). The most common type of strabismus was latent strabismus (heterophoria) (88.6%), followed by exophoria (81%). Moreover, 3 (3.7%) cases had nystagmus. A significant difference was observed between the prevalence of amblyopia and the degree of hearing loss (P = 0.026), and no significant difference was detected in other cases.
    CONCLUSIONS: As evidenced by the obtained results, refractive errors, amblyopia, strabismus, and low vision are more prevalent among deaf and hearing-impaired children compared to normal children because deaf and hearing-impaired children are not able to convey their vision problems and need to compensate for their poor hearing with an enhanced sense of sight, inattention to these disorders can present these children with serious educational and social problems. Therefore, eye screening examinations are of paramount importance in deaf and hearing-impaired children.
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  • 文章类型: Clinical Trial Protocol
    自2000年初以来,数字阅读应用增强了通常听力幼儿的语言和识字能力;然而,目前还没有数字故事书干预措施来支撑聋哑或听力困难的同龄人的早期语言和识字技能。为了解决这个差距,我们的研究团队开发了一种名为HearMeRead的新颖数字故事书干预措施,旨在增强治疗效果,语言,和语言治疗的识字益处。这项前瞻性临床试验(在clinicaltrials.gov注册,NCT#:05245799)旨在确定将HearMeRead添加到3至5岁失聪或有听力障碍的儿童的现场言语语言治疗中的功效。50名护理人员,他们的孩子,和他们的孩子的语言治疗病理学家参加了12个月的试验。在最初的六个月里,儿童参加标准护理语言治疗课程.在接下来的六个月里,儿童继续参加标准的护理语言治疗课程,并使用HearMeRead应用程序,通过提供iPad的研究。这个试验的主要结果是,与单独的现场言语语言治疗相比,现场言语语言治疗与听到我阅读将提高词汇量,演讲,3至5岁失聪或有听力障碍的儿童的语言结果。次要结果是,与单独的现场言语语言治疗相比,“听我说”阅读的现场语言治疗将改善3至5岁失聪或听力困难儿童的识字效果。这种干预的目的是帮助失聪或有听力障碍的儿童获得他们的词汇,演讲,语言,通过交互式数字故事书阅读实现识字目标。
    Since the early 2000\'s, digital reading applications have enhanced the language and literacy skills of typically hearing young children; however, no digital storybook intervention currently exists to scaffold the early language and literacy skills of their peers who are deaf or hard of hearing. To address this gap, our research team developed a novel digital storybook intervention called Hear Me Read with the aim of enhancing the therapeutic, language, and literacy benefits of speech-language therapy. This prospective clinical trial (registered at clinicaltrials.gov, NCT#: 05245799) aims to determine the efficacy of adding Hear Me Read to in-person speech-language therapy for children aged three to five years who are deaf or hard of hearing. Fifty caregivers, their child, and their child\'s treating speech-language pathologist participate in the trial for 12 months. In the first six months, children attend standard-of-care speech-language therapy sessions. In the second six months, children continue to attend standard-of-care speech-language therapy sessions and use the Hear Me Read application, via a study supplied iPad. The primary outcome of this trial is that, compared to in-person speech-language therapy alone, in-person speech-language therapy with Hear Me Read will improve vocabulary, speech, and language outcomes in children aged three to five years who are deaf or hard of hearing. The secondary outcome is that, compared to in-person speech-language therapy alone, in-person speech-language therapy with Hear Me Read will improve literacy outcomes in children aged three to five years who are deaf or hard of hearing. The goal of this intervention is to help children who are deaf or hard of hearing achieve their vocabulary, speech, language, and literacy goals through interactive digital storybook reading.
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  • 文章类型: Journal Article
    聋人和听力困难的人主要使用手语进行交流,这是一组符号,使用手势与面部表情相结合来制作有意义和完整的句子。聋人和听力障碍人士面临的问题是缺乏将手语翻译成书面或口头文本的自动工具,这导致了他们和社区之间的沟通差距。最先进的基于视觉的手语识别方法侧重于翻译非阿拉伯手语,很少有针对阿拉伯手语(ArSL)的,甚至更少的针对沙特手语(SSL)的。本文提出了一种移动应用程序,可以帮助沙特阿拉伯的聋人和听力障碍人士与他们的社区进行有效的沟通。该原型是一个基于Android的移动应用程序,应用深度学习技术将隔离的SSL转换为文本和音频,并包含其他针对ArSL的相关应用程序所没有的独特功能。拟议的方法,当在一个全面的数据集上评估时,通过超越几种最先进的方法并产生与这些方法相当的结果,证明了其有效性。此外,在几个聋哑和听力障碍用户身上测试原型,除了听力用户,证明了它的有用性。在未来,我们的目标是提高模型的准确性,并以更多的功能丰富应用。
    Deaf and hard-of-hearing people mainly communicate using sign language, which is a set of signs made using hand gestures combined with facial expressions to make meaningful and complete sentences. The problem that faces deaf and hard-of-hearing people is the lack of automatic tools that translate sign languages into written or spoken text, which has led to a communication gap between them and their communities. Most state-of-the-art vision-based sign language recognition approaches focus on translating non-Arabic sign languages, with few targeting the Arabic Sign Language (ArSL) and even fewer targeting the Saudi Sign Language (SSL). This paper proposes a mobile application that helps deaf and hard-of-hearing people in Saudi Arabia to communicate efficiently with their communities. The prototype is an Android-based mobile application that applies deep learning techniques to translate isolated SSL to text and audio and includes unique features that are not available in other related applications targeting ArSL. The proposed approach, when evaluated on a comprehensive dataset, has demonstrated its effectiveness by outperforming several state-of-the-art approaches and producing results that are comparable to these approaches. Moreover, testing the prototype on several deaf and hard-of-hearing users, in addition to hearing users, proved its usefulness. In the future, we aim to improve the accuracy of the model and enrich the application with more features.
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  • 文章类型: Case Reports
    听力障碍,一种罕见的遗传性疾病,在血缘关系率高的人群中尤为普遍。全球观察到的最常见形式是常染色体隐性非综合征性听力损失。尽管流行,这种遗传疾病的特征是大量的遗传多样性,诊断和筛查具有挑战性。先进的下一代测序(NGS)技术的出现大大推进了与各种条件相关的基因和变体的发现,比如听力损失。在这项研究中,我们的目的是通过临床外显子组测序,在一个来自叙利亚的家庭中鉴定导致听力损失的特定变异.纯音测听结果显示,家庭中的先证者表现出严重的耳聋。通过NGS获得的不同变体的分析揭示了CLDN14基因内无义突变的存在。通过Sanger测序,我们证实这种变异与疾病分离,在对照人群中不存在.此外,我们对所有报道的耳聋相关CLDN14突变及其相关表型进行了全面回顾.此外,我们努力在CLDN14和GJB2基因之间进行比较分析,目的是确定可以解释这两个基因之间突变频率显着差异的潜在因素。
    Hearing impairment, a rare inherited condition, is notably prevalent in populations with high rates of consanguinity. The most common form observed globally is autosomal recessive non-syndromic hearing loss. Despite its prevalence, this genetic disorder is characterized by a substantial genetic diversity, making diagnosis and screening challenging. The emergence of advanced next-generation sequencing (NGS) technologies has significantly advanced the discovery of genes and variants linked to various conditions, such as hearing loss. In this study, our objective was to identify the specific variant causing hearing loss in a family from Syria using clinical exome sequencing. The proband in the family exhibited profound deafness as shown by pure-tone audiometry results. The analysis of the different variants obtained by NGS revealed the presence of a nonsense mutation within the CLDN14 gene. Through Sanger sequencing, we verified that this variant segregates with the disease and was not present in the control population. Moreover, we conducted a comprehensive review of all reported deafness-related CLDN14 mutations and their associated phenotypes. Furthermore, we endeavored to carry out a comparative analysis between the CLDN14 and GJB2 genes, with the objective of identifying potential factors that could explain the notable discrepancy in mutation frequency between these two genes.
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