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1
Di Stadio, Arianna, Jake Sossamon, Pietro De Luca, et al. "“Do You Hear What I Hear?” Speech and Voice Alterations in Hearing Loss: A Systematic Review." Journal of Clinical Medicine 14, no. 5 (2025): 1428. https://doi.org/10.3390/jcm14051428.
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Background: Although hearing loss influences voice characteristics, such changes may be under-recognized during clinical consultations. This systematic review examines voice alterations in adults with post-lingual hearing loss, considering diagnostic and rehabilitative implications. Methods: A comprehensive search of PubMed, Scopus, and Google Scholar was conducted following PRISMA guidelines, targeting studies reporting quantitative data on vocal parameters in adults with sensorineural hearing loss. Exclusion criteria included pre-lingual hearing loss and non-English studies. Data extraction focused on pitch, loudness, and prosody, with study quality assessed using NIH tools. Results: Eleven case–control studies, involving 594 patients with sensorineural hearing loss and 326 control patients, were analyzed. Patients with untreated hearing loss exhibited elevated fundamental frequency, F0 (males: 158–169 Hz; females: 206–251 Hz) and loudness levels (males: 79–96 dB; females: 89–116 dB) compared to controls (F0—males: 75–150 Hz; females: 150–300 Hz; loudness—males: 30–70 dB; females: 40–68 dB). Alterations in jitter, shimmer, and maximum phonation time (MPT) contributed to the distinct “hearing loss voice”. Cochlear implants (CIs) and hearing aids improved vocal parameters, with CIs reducing F0 by approximately 12–15 Hz. Continuous hearing aid use normalized pitch and loudness within four months. Prosody alterations, such as monotone speech, were reported in long-term cases. In noisy environments, individuals with hearing loss exhibited exaggerated increases in pitch and loudness, indicative of compensatory mechanisms. Conclusions: Post-lingual hearing loss disrupts the central regulation of voice, altering pitch, loudness, and other vocal parameters. Recognizing these changes, particularly in noisy environments, could facilitate the early diagnosis and timely rehabilitation of hearing deficits, potentially mitigating associated risks of cognitive decline.
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Sikandar, Darain, Momina Abid, and Iqra Khalid. "Investigating the Relationship between Non-verbal Intelligence and Adaptive Behavior in Hearing Impaired Children." Journal of Professional & Applied Psychology 5, no. 3 (2024): 519–25. http://dx.doi.org/10.52053/jpap.v5i3.312.
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The present study intended to find out the relationship between nonverbal intelligence and adaptive behaviors in children with pre-lingual and post-lingual hearing loss. A total of 200 hearing impaired children were purposively selected from Government Special Education institute in district Khanewal who aged between 6 to 11 years. The Vineland Adaptive Behavior Scale, and Raven’s Colored Progressive Matrices were used to collect the data from participating hearing impaired children. Results showed that intelligence has significant positive relationship with daily living and motor skills, and significant negative relationship with communication and socialization skills. The independent samples t test revealed a significant difference in prelingual and post lingual children in intelligence levels with little effect size. Further, the prelingual children showed more motor behavior as compared to children in post lingual group. It is important to gather a wide range of data on adaptive behavior and intelligence, including information on performance in various contexts, from various sources, and using varied techniques.
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Thomas, Julie. "Speech and voice rehabilitation in selected patients fitted with a bone anchored hearing aid (BAHA)." Journal of Laryngology & Otology 110, no. 21 (1996): 47–51. http://dx.doi.org/10.1017/s0022215100136278.
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AbstractWithin the Birmingham osseointegrated implant programme there have been several patients with severe pre-lingual conductive hearing loss. The majority of these have been patients with Treacher Collins syndrome.There are characteristic features of speech and voice in those with long-standing conductive hearing loss. In addition, the associated abnormalities of jaw, teeth and palate may amplify the problem. There may be spontaneous improvement in features such as voice pitch, quality and intensity following the fitting of a BAHA. However, in those with a pre-lingual hearing impairment, speech therapy may be necessary. Patients assessed as suitable for BAHA have a full assessment of communication skills including audio recording of speech and voice. Post-operative training improves auditory discrimination and perception and is followed by training in the production of the newly perceived speech sounds.
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Joo, Sun Young, Gina Na, Jung Ah Kim, et al. "Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains." Biomedicines 10, no. 4 (2022): 798. http://dx.doi.org/10.3390/biomedicines10040798.
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Autosomal dominant hearing loss (ADHL) manifests as an adult-onset disease or a progressive disease. MYO7A variants are associated with DFNA11, a subtype of ADHL. Here, we examined the role and genotype–phenotype correlation of MYO7A in ADHL. Enrolled families suspected of having post-lingual sensorineural hearing loss were selected for exome sequencing. Mutational alleles in MYO7A were identified according to ACMG guidelines. Segregation analysis was performed to examine whether pathogenic variants segregated with affected status of families. All identified pathogenic variants were evaluated for a phenotype–genotype correlation. MYO7A variants were detected in 4.7% of post-lingual families, and 12 of 14 families were multiplex. Five potentially pathogenic missense variants were identified. Fourteen variants causing autosomal dominant deafness were clustered in motor and MyTH4 domains of MYO7A protein. Missense variants in the motor domain caused late onset of hearing loss with ascending tendency. A severe audiological phenotype was apparent in individuals carrying tail domain variants. We report two new pathogenic variants responsible for DFNA11 in the Korean ADHL population. Dominant pathogenic variants of MYO7A occur frequently in motor and MyTH4 domains. Audiological differences among individuals correspond to specific domains which contain the variants. Therefore, appropriate rehabilitation is needed, particularly for patients with late-onset familial hearing loss.
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Talarico, Thais Rodrigues, Cilmara Cristina Alves Costa Levy, and Carmen Lucia Penteado Lancellotti. "Qualidade de vida de pacientes deficientes auditivos adultos pré e pós-linguais usuários de implante coclear / Quality of life for adult patients of pre-lingual and post-lingual deafness cochlear implantation users." Arquivos Médicos dos Hospitais e da Faculdade de Ciências Médicas da Santa Casa de São Paulo 65, no. 1 (2020): 1. http://dx.doi.org/10.26432/1809-3019.2020.65.037.
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Objetivo: Avaliar a qualidade de vida (QV) de pacientes adultos com deficiência auditiva pré e pós-lingual usuários de implante coclear (IC). Método: Os pacientes entrevistados foram adultos implantados de 2004 a 2011 no Departamento de Otorrinolaringologia. Eles responderam ao questionário WHOQoL–BREF e, pela analise dos prontuários, foram identificados como pré ou pós-linguais. Desses pacientes, 17 eram pós-linguais e 8 pré-linguais. Resultados: Verificou-se que, no questionário geral, os participantes pré-linguais apresentaram resultado (escore = 77,4) e os pós-linguais, (escore = 76,3). Os melhores resultados foram os dos domínios físico e psicológico, tanto entre os pacientes pré quanto entre os pós-linguais. Conclusões: Podemos constatar que os pacientes pré-linguais apresentam um resultado pouco melhor que os pós-linguais na pontuação total do questionário, mas a análise dos benefícios do IC nos demais domínios mostrou resultados similares nos dois grupos pesquisados.Palavras chave: Implante coclear, Qualidade de vida, Perfil de impacto da doença, Adulto, Pessoas com deficiência auditivaABSTRACTPurpose: Assess quality of life of adult pre and postlingual hearing impaired patients users of cochlear implants. Method: The interviewed patients were adults who had received their implants between 2004 and 2011 at the Department of Otolaryngology. The questionnaire WHOQoL–BREF was applied and patient records were used to check whether the patient had pre or post-lingual hearing loss. Out of the total, there were 17 post-lingual and 8 pre-lingual patients. Results: We have noticed that pre-lingual patients had the score in the general questionnaire of 77.4, whereas post-lingual subjects reached the score 76.3 in the general questionnaire. The domains that showed good results for pre-lingual subjects were physical (score= 82.4) and psychological (score 78.1), and for post-lingual subjects the score for physical and psychological domains were 82.3 and 77.4, respectively. Conclusion: We have observed that pre-lingual patients presented somewhat worse results than post-lingual subjects in the general score, but when the benefits of cochlear implant are taken into account, this difference between the groups practically disappears.Keywords: Cochlear implantation, Quality of life, Sickness impact profile, Adult, Persons with hearing impairments
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Owobi, Emmanuel Agbo. "Impact of Task Analysis Strategy on Morphemes Skill of Students with Post-lingual Hearing Loss in Ganaka Internal School for Special Education Jos, Nigeria." African journal of Inclusive Education 6, no. 1 (2024): 147–53. https://doi.org/10.5281/zenodo.12582492.
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<em>The study investigated the impact of task analysis on the morphemes skill of students with post-lingual hearing loss in Ganaka Internal School for Special Education, Jos-Nigeria. The study had two objectives, two research questions and two hypotheses respectively. The study adopted the quasi-experimental research type, specifically the Pretest - Post-test control group research design. The sample selected for the study were twenty students with post-lingual hearing loss. The study applied the purposive sampling technique. Morphological Construction Text Items (MCTI) and Audiological Assessment Record were used as a baseline and main instruments for the study. Both the descriptive and inferential statistics were used for analyzing the scores generated for the study. The findings are as follows: For research question one: The </em><em>experimental group had a pretest mean score and a standard deviation of 0.00±0.00, post-test mean scores and a standard deviation of 40.00±14.91. While the control group had a pretest mean scores a standard deviation of 2.00±4.22 and a post-test mean score and standard deviation of 14.09±5.16.</em><em> Also hypothesis one had a t-value of 5.212 with a p-value of 0.00. For Research Question Two: the</em><em> experimental group had a pretest mean scores and a standard deviation of 1.00±2.16, post-test mean scores a standard deviation of 63.40±39.17. While the control group had a pretest mean score and a standard deviation of 5.60±4.20, the post-test mean score and a standard deviation was 12.20±4.76. Also Hypothesis Two, had </em><em>t-value of 4.103, with a p-value of 0.001.</em><em> Based on the above findings: </em><em>there were significant differences between students in the experimental and control groups. This is in favour of those in the experimental group. The researcher proffers some recommendations based on the outcome of the study</em>.
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Trebusak Podkrajsek, Katarina, Tine Tesovnik, Nina Bozanic Urbancic, and Saba Battelino. "Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature." Genes 12, no. 4 (2021): 484. http://dx.doi.org/10.3390/genes12040484.
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In contrast to the recessive form, hearing loss inherited in a dominant manner is more often post-lingual and typically results in a progressive sensorineural hearing loss with variable severity and late onset. Variants in the GRHL2 gene are an extremely rare cause of dominantly inherited hearing loss. Genetic testing is a crucial part of the identification of the etiology of hearing loss in individual patients, especially when performed with next-generation sequencing, enabling simultaneous analysis of numerous genes, including those rarely associated with hearing loss. We aimed to evaluate the genetic etiology of hearing loss in a family with moderate late-onset hearing loss using next-generation sequencing and to conduct a review of reported variants in the GRHL2 gene. We identified a novel disease-causing variant in the GRHL2 gene (NM_024915: c.1510C>T; p.Arg504Ter) in both affected members of the family. They both presented with moderate late-onset hearing loss with no additional clinical characteristics. Reviewing known GRHL2 variants associated with hearing loss, we can conclude that they are more likely to be truncating variants, while the associated onset of hearing loss is variable.
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Rigotti, Pricila Perini, Orozimbo Alves Costa, Maria Cecilia Bevilacqua, Leandra Tabanez do Nascimento, and Katia de Freitas Alvarenga. "Assessment of telephone speech perception in individuals who received cochlear implant in the period 1993-2003." CoDAS 25, no. 5 (2013): 400–406. http://dx.doi.org/10.1590/s2317-17822013000500003.
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OBJECTIVE: To evaluate telephone speech perception in individuals who received cochlear implant in the period 1993-2003. METHODS: Twenty seven CI users were divided into pre and post-lingual groups, being the speech perception assessed in two stages: first by a list of sentences imposed on speakerphone with the same mapping used to evaluate the phone and, in a second stage, using the landline, landline phone adapter with CI and cell phone. RESULTS: In the group of pre-lingual hearing loss, 75% of subjects were able to maintain a dialogue with the interlocutor and 19% did so with difficulty. In the post-lingual group, 89% were able to maintain the dialogue with the interlocutor and 11% did so with difficulty. Both groups of subjects pre and post-lingual use the phone as a media, and most have satisfactory performance without the need for aid or CI accessories. CONCLUSION: One of the benefits of the CI is to introduce the life of the hearing impaired phone use regardless of their technology and accessories, as well as with the phone adapter and cell phone. In this study, most individuals CI users showed satisfactory performance in the comprehension of sentence and questions by the telephone, with better performance, although discrete, for the group post-lingual. Thus, there is the importance of careful indication of the IC and auditory rehabilitation program that minimize the impact of deafness in the communication, especially via telephone, regardless of the time when the hearing was acquired. So, this fact improves the conditions for CI users to maintain their daily activities, following the dynamism of contemporary life.
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Boullaud, Luc, Hélène Blasco, Thuy-Trân Trinh, and David Bakhos. "Metabolomic Studies in Inner Ear Pathologies." Metabolites 12, no. 3 (2022): 214. http://dx.doi.org/10.3390/metabo12030214.
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Sensorineural hearing loss is the most common sensory deficit. The etiologies of sensorineural hearing loss have been described and can be congenital or acquired. For congenital non-syndromic hearing loss, mutations that are related to sites of cochlear damage have been discovered (e.g., connexin proteins, mitochondrial genes, etc.). For cytomegalovirus infection or auditory neuropathies, mechanisms are also well known and well researched. Although the etiologies of sensorineural hearing loss may be evident for some patients, the damaged sites and pathological mechanisms remain unclear for patients with progressive post-lingual hearing loss. Metabolomics is an emerging technique in which all metabolites present in a sample at a given time are analyzed, reflecting a physiological state. The objective of this study was to review the literature on the use of metabolomics in hearing loss. The findings of this review suggest that metabolomic studies may help to develop objective tests for diagnosis and personalized treatment.
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Fauvet, Cordélia, Léa Cantini, Aude-Eva Chaudoreille, et al. "Assessing the Recognition of Social Interactions Through Body Motion in the Routine Care of Patients with Post-Lingual Sensorineural Hearing Loss." Journal of Clinical Medicine 14, no. 5 (2025): 1604. https://doi.org/10.3390/jcm14051604.
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Background: Body motion significantly contributes to understanding communicative and social interactions, especially when auditory information is impaired. The visual skills of people with hearing loss are often enhanced and compensate for some of the missing auditory information. In the present study, we investigated the recognition of social interactions by observing body motion in people with post-lingual sensorineural hearing loss (SNHL). Methods: In total, 38 participants with post-lingual SNHL and 38 matched normally hearing individuals (NHIs) were presented with point-light stimuli of two agents who were either engaged in a communicative interaction or acting independently. They were asked to classify the actions as communicative vs. independent and to select the correct action description. Results: No significant differences were found between the participants with SNHL and the NHIs when classifying the actions. However, the participants with SNHL showed significantly lower performance compared with the NHIs in the description task due to a higher tendency to misinterpret communicative stimuli. In addition, acquired SNHL was associated with a significantly higher number of errors, with a tendency to over-interpret independent stimuli as communicative and to misinterpret communicative actions. Conclusions: The findings of this study suggest a misinterpretation of visual understanding of social interactions in individuals with SNHL and over-interpretation of communicative intentions in SNHL acquired later in life.
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Gabr, Takwa, Ahmed Hashem, Sherihan Rezk Ahmed, and Mohamed G. Zeinhom. "Visual Reliance in Severe Hearing Loss: Visual Evoked Potentials (VEPs) Study." Audiology Research 15, no. 1 (2025): 3. https://doi.org/10.3390/audiolres15010003.
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Peripheral hearing loss is associated with the cross-modal re-organization of the auditory cortex, which can occur in both pre- and post-lingual deaf cases. Background/Objectives: Whether to rely on the visual cues in cases with severe hearing loss with adequate amplification is a matter of debate. So, this study aims to study visual evoked potentials (VEPs) in children with severe or profound HL, whether fitted with HAs or CIs. Methods: This study included three groups of children matched in age and gender: normal hearing, children with hearing thresholds >70 dBHL and fitted with power HAs, and children fitted with CIs. All cases were subjected to pure tone audiometry (aided and unaided), speech discrimination scores, ophthalmic examinations, and visual evoked potentials (VEPs). Results: SD% scores significantly improved with the use of VCs in both CI and HL groups, and a significantly higher P100 amplitude of VEPs in both CI and HL groups (more in children fitted with CIs). Conclusions: Cross-modal reorganization in severe degrees of HL is of great benefit whether they are fitted with HAs or CIs.
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Aldè, Mirko, Giovanna Cantarella, Diego Zanetti, et al. "Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review." Biomedicines 11, no. 6 (2023): 1616. http://dx.doi.org/10.3390/biomedicines11061616.
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Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a hearing-impaired parent, although de novo mutations should be considered in all cases of negative family history. To date, more than 50 genes and 80 loci have been identified for autosomal dominant non-syndromic HL. DFNA22 (MYO6 gene), DFNA8/12 (TECTA gene), DFNA20/26 (ACTG1 gene), DFNA6/14/38 (WFS1 gene), DFNA15 (POU4F3 gene), DFNA2A (KCNQ4 gene), and DFNA10 (EYA4 gene) are some of the most common forms of autosomal dominant non-syndromic HL. The characteristics of autosomal dominant non-syndromic HL are heterogenous. However, in most cases, HL tends to be bilateral, post-lingual in onset (childhood to early adulthood), high-frequency (sloping audiometric configuration), progressive, and variable in severity (mild to profound degree). DFNA1 (DIAPH1 gene) and DFNA6/14/38 (WFS1 gene) are the most common forms of autosomal dominant non-syndromic HL affecting low frequencies, while DFNA16 (unknown gene) is characterized by fluctuating HL. A long audiological follow-up is of paramount importance to identify hearing threshold deteriorations early and ensure prompt treatment with hearing aids or cochlear implants.
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Cenni, Camille, Luke Mansard, Catherine Blanchet, et al. "When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report." Diagnostics 11, no. 9 (2021): 1636. http://dx.doi.org/10.3390/diagnostics11091636.
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We describe a family with both hearing loss (HL) and thrombocytopenia, caused by pathogenic variants in three genes. The proband was a child with neonatal thrombocytopenia, childhood-onset HL, hyper-laxity and severe myopia. The child’s mother (and some of her relatives) presented with moderate thrombocytopenia and adulthood-onset HL. The child’s father (and some of his relatives) presented with adult-onset HL. An HL panel analysis, completed by whole exome sequencing, was performed in this complex family. We identified three pathogenic variants in three different genes: MYH9, MYO7A and ACTG1. The thrombocytopenia in the child and her mother is explained by the MYH9 variant. The post-lingual HL in the paternal branch is explained by the MYO7A variant, absent in the proband, while the congenital HL of the child is explained by a de novo ACTG1 variant. This family, in which HL segregates, illustrates that multiple genetic conditions coexist in individuals and make patient care more complex than expected.
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Kitano, Kitajiri, Nishio, and Usami. "Detailed Clinical Features of Deafness Caused by a Claudin-14 Variant." International Journal of Molecular Sciences 20, no. 18 (2019): 4579. http://dx.doi.org/10.3390/ijms20184579.
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Tight junctions are cellular junctions that play a major role in the epithelial barrier function. In the inner ear, claudins, occludin, tricellulin, and angulins form the bicellular or tricellular binding of membrane proteins. In these, one type of claudin gene, CLDN14, was reported to be responsible for human hereditary hearing loss, DFNB29. Until now, nine pathogenic variants have been reported, and most phenotypic features remain unclear. In the present study, genetic screening for 68 previously reported deafness causative genes was carried out to identify CLDN14 variants in a large series of Japanese hearing loss patients, and to clarify the prevalence and clinical characteristics of DFNB29 in the Japanese population. One patient had a homozygous novel variant (c.241C>T: p.Arg81Cys) (0.04%: 1/2549). The patient showed progressive bilateral hearing loss, with post-lingual onset. Pure-tone audiograms indicated a high-frequency hearing loss type, and the deterioration gradually spread to other frequencies. The patient showed normal vestibular function. Cochlear implantation improved the patient’s sound field threshold levels, but not speech discrimination scores. This report indicated that claudin-14 is essential for maintaining the inner ear environment and suggested the possible phenotypic expansion of DFNB29. This is the first report of a patient with a tight junction variant receiving a cochlear implantation.
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Sailo, Lalrinfeli, Suresh T, Srividya A, and Praveena Babu. "Adaptation and validation of Mizo language version of Abbreviated Profile from Hearing Aids (APHAB)." International Research Journal of Multidisciplinary Scope 06, no. 02 (2025): 684–98. https://doi.org/10.47857/irjms.2025.v06i02.03333.
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The Abbreviated Profile of Hearing Aid Benefit (APHAB) questionnaire was developed as a 24-item self-report outcome measure to evaluate the effectiveness of hearing aid fittings and to provide a standardized method for quantifying the disability associated with a patient's hearing impairment. The lack of standardized self-assessment questionnaires in the regional language in Mizoram, India has caused a lot of issues in measuring the benefit of amplification devices, monitoring of progress, lifestyle requirements especially amongst the Mizo population. The study is aimed to translate, adapt and validate of Abbreviated profile for the hearing aid benefit [APHAB] into Mizo language. Forward and backward translations of the questionnaire were made, and it was validated. Descriptive cross-sectional study was adopted. Fifty-six native post lingual deaf with Mizo language speakers aged >/=18 years, and minimum of a month of hearing aid usage experience, but with any degree of hearing loss were the respondents for the questionnaire. The APHAB v2.1 programme was used for data analysis. The sensitivity and reliability of the translated version of APHAB was carried out. The outcome of the responses APHAB-Mizo on different subscales was evaluated across its audiological factors such as hearing loss and hearing aid experience, usage, and style. The results suggested that APHAB-Mizo is a valid and reliable tool to evaluate the benefits of hearing aids of native Mizo language individuals.
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Murali, Sathiya, Sunil Goyal, Kiran Natarajan, Senthil Vadivu Arumugam, Neha Chauhan, and Mohan Kameswaran. "Changes in response characteristics of cortical auditory evoked potentials in bilateral cochlear implantees." International Journal of Otorhinolaryngology and Head and Neck Surgery 4, no. 1 (2017): 197. http://dx.doi.org/10.18203/issn.2454-5929.ijohns20175625.
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<p class="abstract"><strong>Background:</strong> Cochlear implants (CIs) represents the most successful intervention to restore hearing in profoundly hearing impaired children and adults. An objective measures such as cortical auditory evoked potentials (CAEPs) would provide more insights to the auditory process involved in post implantation. Aim of the study was to profile the change in response characteristics of CAEPs in simultaneous binaural cochlear implantees. Objective was to measure change in latency and amplitude in monoaural and binaural condition for speech stimulus with change in intensities.</p><p class="abstract"><strong>Methods:</strong> Ours study is an observational retrospective study done at a tertiary ENT referral centre in south India, between Jan 2014 to Dec 2015. Out of total 15 patients with bilateral cochlear implantation, 7 consecutive bilateral simultaneous cochlear implantees with chronological age between 2-6 years were included in the study. Only pre-lingual congenital hearing loss children with no syndromic associations and normal cochlear anatomy were included while, peri-lingual, post-lingual children and children with sequential bilateral implantation were excluded from the study. </p><p class="abstract"><strong>Results:</strong> Amplitude of P1 was higher for binaural stimulation compared to monoaural stimulation. Latency of P1 was smaller for binaural compared to monoaural stimulus. In monaural stimulation the latency of P1 was smaller in right ear compared to left ear. However the difference between the right ear, left ear and binaural conditions were not statistically significant. Ours is a preliminary study and more bilateral implantees will be included in future studies to give more power to the study.</p><p><strong>Conclusions:</strong> We suggest that CAEPs can be used as a useful objective tool for assessment of post CI outcome.</p>
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Lei, Peiliang, Qingwen Zhu, Wenrong Dong, et al. "Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss." PLOS ONE 17, no. 11 (2022): e0276233. http://dx.doi.org/10.1371/journal.pone.0276233.
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Background Hearing loss is considered one of the most common sensory nervous system defects, about 60% of which are caused by genetic factors. Mutations in the GSDME gene are responsible for post-lingual, progressive, autosomal dominant hearing loss. This study aimed to characterize the genetic mutations and clinical features of a Chinese GSDME family. Methods After clinical evaluations, high-throughput DNA sequencing was conducted using DNA samples from this family. Sanger sequencing was performed to verify the suspected variants. A detailed genotype and phenotype analysis were carried out. Gene set enrichment analysis (GSEA) was performed to identify the signaling pathway associated with GSDME expression. Results A known hotspot heterozygous splice-site variation (c.991-15_991_13delTTC) was identified and shown to segregate with the hearing loss phenotype in the family. This pathogenic splice-site variant results in skipping of exon 8. GSEA analysis identified changes in regulation of the cell cycle checkpoint, peroxisome, and amino acid metabolism signaling pathways. Conclusions We identified a reported mutation in the GSDME gene. Our findings support the 3 bp deletion (c.991-15_991-13del) was a hotspot variation, and it emerged as an essential contributor to autosomal dominant progressive hearing loss in East Asians. GSDME gene is closely associated with a range of signaling pathways. These characterized findings may provide new evidence for pathogenesis.
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Çiyiltepe, Müge Müzeyyen, Özgül Akın Şenkal, and Berkay Arslan. "Increasing the speech intelligibility by the use of voice therapy in patients with profound hearing loss." Journal of Otolaryngology-ENT Research 14, no. 3 (2022): 74–78. http://dx.doi.org/10.15406/joentr.2022.14.00510.
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Objective: The purpose of this study is to evaluate changes in the acoustic properties of voice in patients with profound sensorineural hearing loss to determine the effectiveness of voice therapy. Material-Method: Our study consisted of 15 individuals from the 20-25 years of age with bilateral symmetrical hearing loss (Group A), and 15 individuals in the 26-65 age group with post lingual cochlear implants (Group B). The control group (Group C) included 15 adults with the normal hearing range from the age group of 20-30. Prospective analysis methods was utilized for this research. In order to quantitatively measure the psychosocial consequences of voice-related disorders the Voice Handicap Index (VHI) was given, and, to determine the acoustic measures of the voice quality, the /ah/ sound was digitally recorded with the Multidimensional Voice Program (Kay Elemetrics) in all groups. Conclusion: Average Fundamental frequency (F0), jitter percentage (jitter), shimmer, noise-harmonic ratio (NHR), voice turbulence index (VTI), soft phonation index (SPI), PPQ and APQ parameters were analyzed through acoustic sound analysis program. When the data in Group A are compared with Group B, the acoustic parameters show a statistically significant higher value. Discussion: Speech intelligibility increased in individuals with profound hearing loss who received sound therapy and who used cochlear implants. According to the results of the VHI, individuals with cochlear implants benefit from voice therapy.
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Dendys, Konrad, Jan Bieniasz, Paula Bigos, Wojciech Kuźnicki, Igor Matkowski, and Piotr Potyrała. "Cochlear implants – An Overview. Are CIs world’s most successful sensory prostheses?" Journal of Education, Health and Sport 24, no. 1 (2023): 126–42. http://dx.doi.org/10.12775/jehs.2023.24.01.012.
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Cochlear implants (CIs) have greatly improved over the last 2 decades and now are the world’s most successful sensory prostheses, that restored hearing to more than 800,000 deaf people. CIs are small electronic devices that consists of an external portion that is located behind the ear and a second portion that is surgically fixed under the skin, they replace the function of the inner hair cells in the cochlea by direct electrical stimulation of the auditory nerve. Although cochlear implantation has been used for almost 50 years, the indications for this procedure are subject to constant modifications but the main indication is the inability to achieve sufficient speech understanding. Properly implanted, fitted, and rehabilitated hearing prostheses allow to achieve open speech understanding in 70-80% of post-lingual deafness patients and very good speech development results in children. These days cochlear implantation has become the treatment of choice for people with significant hearing loss and are constantly being developed intensively.
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Γεωργοκωστόπουλος, Χρήστος, та Μαρία Τζουριάδου. "Η αντιληπτική λειτουργία παιδιών 8-13 ετών με προγλωσσική απώλεια ακοής". Psychology: the Journal of the Hellenic Psychological Society 26, № 1 (2021): 169. http://dx.doi.org/10.12681/psy_hps.26237.
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In this study, we investigated the perceptual function of deaf/hard of hearing children. The sample of the study consisted of 58 pupils aged 8-13 years old (3rd-6th graders) with severe (60-90 db) or profound (90 db and above) neurosensory hearing loss – pre-lingual with or without cochlear implants. Children with co-morbidity (intellectual disabilities, syndromes, autism, motor disorders, etc.) and children with post-lingual deafness/hearing impairment were excluded. In order to investigate their perceptual function, the Perceptual Functionality Criterion was used. The results of the study show that deaf/hard of hearing participants exhibit a “sporadic” profile regarding the general perceptual functionality. In particular, the participants were found to perform similarly in terms of visual-perceptive skills, while there was one exception, i.e. their visual-motor skills were worse. Higher scores have been shown in the domain of kinesthetic and tactile perception and lower ones regarding vestigial perception, especially in terms of the sense of balance. In addition, the perceptual function was investigated among the cochlear implant participants and those with conventional hearing aids. The results showed no significant differences between the two groups regarding the perceptual function, although the visual perception was found to be significantly better among the users of conventional hearing aids relative to cochlear implant users. Finally, the perceptual function was investigated in terms of the main method of language/communication used. The data indicated that participants, regardless of whether they use sign language, total/bilingual or oral communication, performed roughly similarly on the test variables. Among the different types of main method of language/communication, statistically significant differences were absent, though regarding the visual and kinesthetic perception sign language users outperformed the users of oral communication.
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Lee, Sang-Youp, Goun Choe, Sang-Yeon Lee, et al. "Outcome of cochlear implantation in the worse ear of post-lingual asymmetric hearing loss: elucidation of prognostic markers." Acta Oto-Laryngologica 141, no. 5 (2021): 495–501. http://dx.doi.org/10.1080/00016489.2021.1880632.
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Soe'oed, Rahmat, Maria Teodora Ping, and Abdul Rais Thamrin. "USING PICTURE- ASSISTED LEXICAL INPUT APPROACH TO TEACH VOCABULARY TO THE POST-LINGUAL DEAF STUDENTS." LLT Journal: A Journal on Language and Language Teaching 23, no. 2 (2020): 354–67. http://dx.doi.org/10.24071/llt.v23i2.2569.
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English has been one of the compulsory subjects for special schools in Indonesia. However, there have been a rather limited number of studies conducted regarding the teaching of English under the framework of Special Education. Responding to this gap, this current study aimed at investigating whether a particular language teaching approach called Lexical Input Approach assisted by series of pictures could provide a desirable effect on post-lingual deaf students vocabulary mastery. This research employed a pre-experimental Single Subject with a multiple base (A-B-A-B) design. The sample included three 8th grade Junior High School students with the similarity of ages and hearing-loss history. The primary data in this study were taken by using assessments and analyzed statistically by calculating the Percentage of Data Points Exceeding the Median (PEM). The findings indicated that there was an improvement in the students vocabulary scores after the treatments (from 41/ novice advanced category to 46 and 51/ novice high category). Thus, it could be concluded that using Picture-Assisted Lexical Input Approach was effective to improve English vocabulary mastery for post-lingual deaf students.
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Jahan, Abdussalam Mohamed, Aisha Mohamed Abuzagaya, Mohamed Hussain Patel, and Yousef Mohamed Eldanfur. "Cochlear implant complications in Misrata Central Hospital." International Journal of Otorhinolaryngology and Head and Neck Surgery 6, no. 3 (2020): 448. http://dx.doi.org/10.18203/issn.2454-5929.ijohns20200619.
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<p class="abstract"><strong>Background:</strong> Cochlear implantation is a safe and reliable method for auditory restoration in patients with severe to profound hearing loss.</p><p class="abstract"><strong>Methods:</strong> Unilateral surgical procedures cochlear implants were performed in Misrata Central Hospital, Libya, between November 2012 to November 2016, involving 140 patients, retrospective data analysis was performed. </p><p class="abstract"><strong>Results:</strong> Of 140 cochlear implantations analyzed; 130 were pre lingual, and 10 were post-lingual. The ratio of M:F were 3: 2, the total complications were seen in 24 cases (17.14%), major complications rate was (2.86%) 4 cases and minor complications rate was (14.28%) 20 cases.</p><p class="abstract"><strong>Conclusions:</strong> There was a low rate of complications, most of them been successfully managed, these results confirm that the cochlear implant is a safe procedure can be done for the profoundly deaf patient.</p>
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Georgolios, Alexandros, Kelley Melissa Dodson, Cristina Baldassari, Patrick G. Maiberger, and Aristides Sismanis. "Performance and QOL after Geriatric Cochlear Implantation." Otolaryngology–Head and Neck Surgery 139, no. 2_suppl (2008): P57—P58. http://dx.doi.org/10.1016/j.otohns.2008.05.186.
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Objective To assess audiologic performance and quality of life in geriatric cochlear implantation patients and to determine whether comorbid medical conditions, etiology, and duration of hearing loss impact audiologic and quality of life outcomes. Methods Geriatric patients who underwent cochlear implantation between 1990 and 2006 were evaluated. Inclusion criteria were 55 years of age or older at time of implantation and post-lingual hearing loss. Patients with primary language other than English were excluded. 49 cochlear implant recipients were identified. A group of younger implanted patients was used as a control. All patients completed standardized audiologic tests including the Hearing In Noise Test. Validated surveys, including the Glasgow Benefit Inventory and the Hearing Handicap Inventory for the Elderly, were used to assess quality of life. Results The mean age at implantation was 69.5 (range 58–85) and the average time interval from the implantation to the completion of the surveys was 73.2 months (6 to 229). Identified comorbid conditions included hypertension, diabetes, and malignancies, among others. Audiologic performance and quality of life scores between the two groups were similar. In the geriatric group there was no difference in patient satisfaction between subgroups with 0–1, 2–3 or > 3 comorbid conditions. Conclusions Our results suggest that the audiologic performance and quality of life scores between the older and younger age groups are similar. In the geriatric group associated comorbidities did not interfere with patient satisfaction as assessed by survey instruments.
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Alkowari, Moza, Meritxell Espino-Guarch, Sahar Daas, et al. "Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients." International Journal of Molecular Sciences 23, no. 6 (2022): 3369. http://dx.doi.org/10.3390/ijms23063369.
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Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The long tradition of consanguinity among the Qatari population has increased the prevalence of HHL, which negatively impacts the quality of life. Here, we functionally validated the pathogenicity of the c.178G>C, p.E60Q mutation in the MYO6 gene, which was detected previously in a Qatari HHL family, using cellular and animal models. In vitro analysis was conducted in HeLa cells transiently transfected with plasmids carrying MYO6WT or MYO6p.E60Q, and a zebrafish model was generated to characterize the in vivo phenotype. Cells transfected with MYO6WT showed higher expression of MYO6 in the plasma membrane and increased ATPase activity. Modeling the human MYO6 variants in zebrafish resulted in severe otic defects. At 72 h post-injection, MYO6p.E60Q embryos demonstrated alterations in the sizes of the saccule and utricle. Additionally, zebrafish with MYO6p.E60Q displayed super-coiled and bent hair bundles in otic hair cells when compared to control and MYO6WT embryos. In conclusion, our cellular and animal models add support to the in silico prediction that the p.E60Q missense variant is pathogenic and damaging to the protein. Since the c.178G>C MYO6 variant has a 0.5% allele frequency in the Qatari population, about 400 times higher than in other populations, it could contribute to explaining the high prevalence of hearing impairment in Qatar.
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Yang, Chan Joo, Jee Yeon Lee, Joong Ho Ahn, and Kwang-Sun Lee. "Value of pre-operative caloric test in predicting speech perception after cochlear implantation in adults with post-lingual hearing loss." Acta Oto-Laryngologica 136, no. 9 (2016): 912–18. http://dx.doi.org/10.3109/00016489.2016.1172731.
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Sreekumar, Sita, Shibila Sherin AP, and Akshaya Dev. "Functional Outcomes from Cochlear Implants in Children with Acquired Hearing Loss: Case Studies." Clinical Archives of Communication Disorders 9, no. 1 (2024): 20–26. http://dx.doi.org/10.21849/cacd.2023.01046.
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Purpose: Early identification of postlingual hearing loss (HL) and knowing its probable cause is of great significance. Causes that result in irreversible profound HL require immediate radiological investigation and intervention to decide the best listening device.Methods: Case reports of three children with acquired HL using cochlear implant (CI) are being presented to understand the functional outcomes in domains of audition and language skills after 12 months of CI use. The age of onset of deafness and implantation were not identical. Etiology of deafness was meningitis in two cases and viral infection in the other. Consent was obtained from the parents for participating in the study. Case history review was conducted to collect demographic and audiological details of the participants. Functional benefits from CI in those children were assessed in the domains of auditory and language skills using standardized assessment tools respectively.Results: Improvements in all domains of auditory and language skills were observed. However, the degree of benefits depended on the duration of deafness, etiology of deafness, age at onset of deafness, age at implantation and effectiveness of intervention.Conclusions: The results of the study can be used during pre-implant CI counselling to facilitate development of real expectations about the functional benefits of CI in children with acquired HL due to various reasons and showed the importance of early cochlear implantation following the diagnosis. These case presentations give an understanding of the various factors that can affect the functional outcome from CI in children with post-lingual HL.
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Seol, Hye Yoon, Soojin Kang, Sungkean Kim, et al. "P1 and N1 Characteristics in Individuals with Normal Hearing and Hearing Loss, and Cochlear Implant Users: A Pilot Study." Journal of Clinical Medicine 13, no. 16 (2024): 4941. http://dx.doi.org/10.3390/jcm13164941.
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Background: It has been reported in many previous studies that the lack of auditory input due to hearing loss (HL) can induce changes in the brain. However, most of these studies have focused on individuals with pre-lingual HL and have predominantly compared the characteristics of those with normal hearing (NH) to cochlear implant (CI) users in children. This study examined the visual and auditory evoked potential characteristics in NH listeners, individuals with bilateral HL, and CI users, including those with single-sided deafness. Methods: A total of sixteen participants (seven NH listeners, four individuals with bilateral sensorineural HL, and five CI users) completed speech testing in quiet and noise and evoked potential testing. For speech testing, the Korean version of the Hearing in Noise Test was used to assess individuals’ speech understanding ability in quiet and in noise (noise from the front, +90 degrees, and −90 degrees). For evoked potential testing, visual and auditory (1000 Hz, /ba/, and /da/) evoked potentials were measured. Results: The results showed that CI users understood speech better than those with HL in all conditions except for the noise from +90 and −90 degrees. In the CI group, a decrease in P1 amplitudes was noted across all channels after implantation. The NH group exhibited the highest amplitudes, followed by the HL group, with the CI group (post-CI) showing the lowest amplitudes. In terms of auditory evoked potentials, the smallest amplitude was observed in the pre-CI condition regardless of the type of stimulus. Conclusions: To the best of our knowledge, this is the first study that examined visual and auditory evoked potentials based on various hearing profiles. The characteristics of evoked potentials varied across participant groups, and further studies with CI users are necessary, as there are significant challenges in collecting and analyzing evoked potentials due to artifact issues on the CI side.
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Bitner-Glindzicz, M., V. Osei-Lah, I. Colvin, et al. "Aminoglycoside-induced deafness in leukemic patients: Cost-effectiveness of prevention by genetic testing." Journal of Clinical Oncology 25, no. 18_suppl (2007): 9014. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.9014.
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9014 Background: Aminoglycosides are highly-effective, inexpensive antimicrobials widely used in empirical combination therapy for fever in children with severe neutropenia, including patients receiving treatment for acute leukemia. Some genetically predisposed individuals are exquisitely sensitive to the cochleotoxic effects of these drugs, even when levels are within the therapeutic range. This genetic susceptibility is maternally inherited and caused by mutation of the MT-RNR1 gene encoding mitochondrial 12S rRNA at base position 1555, termed m.1555A>G. Methods: Retrospective analysis of m.1555A>G positive cases in the Regional Diagnostic laboratory to determine how many were revealed by aminoglycoside treatment for cancer treatment-related sepsis. Results: Three unrelated mutation positive individuals were identified in a two year period. All were children with acute lymphoblastic leukemia who experienced rapidly progressive hearing loss during their treatment. Two of the three children have a post-lingual hearing loss of sufficient severity to merit cochlear implantation. None had a significant family history of deafness. Conclusions: Initial estimates of the prevalence of the m.1555A>G mutation were based upon extrapolation back from its contribution to the cause of hearing loss amongst hearing-impaired people and were thought to be low. However, recent small studies of the prevalence of m.1555A>G in the general population suggest that prevalence is much higher than previously calculated (1 in 206 in New Zealand (n=206), 1 in 1,161 in Texas (n=1,161)) but that penetrance, at least in the absence of aminoglycosides, is low. Using estimates of the lifetime cost of pediatric cochlear implantation we suggest that screening for the m.1555A>G mutation at the time of diagnosis of leukemia would be cost effective and therefore suggest that all children diagnosed with leukemia should be screened for this mutation prior to receiving aminoglycoside therapy. No significant financial relationships to disclose.
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Ali, Muhammad, Sayed Nusrat Raza, Abdul Hakim, Kashif Obaid Khan Niazi, Shakeel Ahmed, and Riaz Ahmed Khokhar. "Sharing the Experience of Two Hundred Patients in A Novel Cochlear Implant Programme At Combined Military Hospital, Rawalpindi." Pakistan Armed Forces Medical Journal 74, no. 2 (2024): 277–81. http://dx.doi.org/10.51253/pafmj.v74i2.8366.
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Objective: To share our experience of difficulties encountered while implanting different types of cochlear implants and ascertain the affordability of cochlear implant surgery among the Pakistani population to treat sensorineural hearing loss in a novel cochlear implant programme. Study Design: Retrospective longitudinal study. Place and Duration of Study: Department of ENT, Combined Military Hospital (CMH), Rawalpindi Pakistan, from Apr 2017 to May 2021. Methodology: The study included patients who underwent cochlear implant surgeries. Patient demographics and causes of deafness, were collected. Intraoperative difficulties were encountered, and round window accessibility was also recorded. Results: Out of 200 patients, 112(56%) were males, while 88(44%) were females. 193(96.5%) patients were pre-lingual under 12 years of age, while post-lingual patients were 7(3.5%) and were adults. Cochlear implants from Med-El 186(93%), Cochlear 2(1%) and Advance Bionic 1(0.5%) were implanted through a transmastoid, facial recess approach, while Neubio 11(5.5%) was implanted through a postauricular transcanal approach. Congenital deafness with consanguinity was the leading cause of deafness, while round window variation was the most frequently encountered surgical challenge. Conclusion: In developing countries, financial restraints cause delays in surgery, leading to limited access to cochlear implant programmes. Surgical challenges are frequently encountered during surgery, and better understanding is required for easy implantation.
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Alam, Mohammed Iftekharul, A. K. M. Asaduzzaman, Mohammad K. Hossain, M. Belal Hossain, and Tasnia Mahmud. "Effect of age at cochlear implantation on speech and auditory performance." International Journal of Otorhinolaryngology and Head and Neck Surgery 7, no. 2 (2021): 229. http://dx.doi.org/10.18203/issn.2454-5929.ijohns20210152.
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<p class="abstract"><strong>Background:</strong> Cochlear implants (CI) are currently widely accepted as treatment for patients with severe bilateral hearing loss. The outcomes of cochlear implantation among post lingual and crossover patients measuring surgical and functional outcomes and identifying areas which require further attention or improvement.</p><p class="abstract"><strong>Methods:</strong> This is retrospective clinical study was performed in a total of 80 children purposively screened from the patients who attended the outpatient clinic with complaints of hearing, speech or language impairment. The study group consisted those children who fit into the candidacy norms for cochlear implantation at the Department of ENT and Head-Neck Surgery, Combined Military Hospital, Dhaka from January 2017 to June 2019. Children with bilateral severe to profound sensori-neural hearing loss, age less than 5 years and prelingual deafness was included in this study. </p><p class="abstract"><strong>Results:</strong> Mean categorical auditory performance (CAP) and speech intelligibility rating (SIR) at 6 month and 12 month were statistically significant (p&lt;0.05) compare with at 3 month. The mean post-operative CAP score was found significantly increased at 6, 12 and 24 month follow up age ≤3 years than &gt;3 years (p&lt;0.05). The mean post-operative SIR score was found significantly increased at 6, 12 and 24 month follow up in children age ≤3 years than &gt;3 years (p&lt;0.05).</p><p class="abstract"><strong>Conclusions:</strong> The majority of implanted have significantly gained auditory improvement as shown by the CAP and SIR scores in both group. Comparison between age group CAP and SIR score was significantly increased when children age &lt;3 years than &gt;3 years.</p>
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Scattergood, Lindsay, and Charles J. Limb. "Music Perception in Children With Cochlear Implants." Perspectives on Hearing and Hearing Disorders in Childhood 20, no. 1 (2010): 32–37. http://dx.doi.org/10.1044/hhdc20.1.32.
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Abstract As a result of the widespread use of cochlear implants, individuals with profound hearing loss now are able to hear sounds ranging from a syllable to a symphony. This form of “electric hearing” has been remarkably successful in providing sound to the deaf population and at least 100,000 implantation procedures have been performed worldwide in more than 80 countries (Clark, 2008). Today, it is routine for post-lingual deafened individuals (one who lost their hearing after normal childhood language acquisition) to achieve high performance on language tests following implantation (Lalwani, Larky, Wareing, Kwast, & Schindler, 1998). Deaf children implanted at an early age with a CI usually develop excellent spoken language skills, with placement into mainstream educational schooling (Francis, Koch, Wyatt, & Niparko, 1999). The overwhelming emphasis on language perception in CI users has led to relative neglect of non-linguistic sound perception. Yet, the auditory world consists of many other sounds besides those of spoken language. Of all non-linguistic sounds, perception of music—particularly pitch and timbre—represents the greatest challenge for implant-mediated listening (Limb, 2006). High-level perception of music rarely is attained through conventional speech processing technology in adults or children. Recent technological advances, however, have increased the processing capabilities of modern CIs and hold great promise for music perception and quality of life for children with cochlear implants (Lassaletta et al., 2007).
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Sorrentino, Ugo, Chiara Piccolo, Chiara Rigon, et al. "DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature." Audiology Research 11, no. 4 (2021): 582–93. http://dx.doi.org/10.3390/audiolres11040052.
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Since the early 2000s, an ever-increasing subset of missense pathogenic variants in the ACTG1 gene has been associated with an autosomal-dominant, progressive, typically post-lingual non-syndromic hearing loss (NSHL) condition designed as DFNA20/26. ACTG1 gene encodes gamma actin, the predominant actin protein in the cytoskeleton of auditory hair cells; its normal expression and function are essential for the stereocilia maintenance. Different gain-of-function pathogenic variants of ACTG1 have been associated with two major phenotypes: DFNA20/26 and Baraitser–Winter syndrome, a multiple congenital anomaly disorder. Here, we report a novel ACTG1 variant [c.625G>A (p. Val209Met)] in an adult patient with moderate-severe NSHL characterized by a downsloping audiogram. The patient, who had a clinical history of slowly progressive NSHL and tinnitus, was referred to our laboratory for the analysis of a large panel of NSHL-associated genes by next generation sequencing. An extensive review of previously reported ACTG1 variants and their associated phenotypes was also performed.
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Twumasi Aboagye, Elvis, Samuel Mawuli Adadey, Leonardo Alves de Souza Rios, et al. "Bi-Allelic MARVELD2 Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing Loss." International Journal of Molecular Sciences 26, no. 7 (2025): 3337. https://doi.org/10.3390/ijms26073337.
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Genetic studies and phenotypic expansion of hearing loss (HL) for people living in Africa are greatly needed. We evaluated the clinical phenotypes of three affected siblings presenting non-syndromic (NS) HL and five unaffected members of a consanguineous Ghanaian family. Analysis of exome sequence data was performed for all affected and one unaffected family members. In-depth genetic and cellular characterization studies were performed to investigate biological significance of the implicated variant using bioinformatic tools and cell-based experimentation. Audiological examinations showed severe-to-profound, bilateral, symmetrical, and post-lingual onset. The whole-exome sequencing (WES) identified a homozygous frameshift variant: MARVEL domain containing 2 (MARVELD2):c.1058dup;p.(Val354Serfs*5) in all affected siblings. This frameshift variant leads to an early stop codon insertion and predicted to be targeted by nonsense medicated decay (mutant protein predicted to lack conserved C-terminal domain if translated). Cell immunofluorescence and immunocytochemistry studies exposed the functional impact of the mutant protein’s expression, stability, localization, protein–protein binding, barrier function, and actin cytoskeleton architecture. The identified variant segregates with NSHL in the index Ghanaian family. The data support this nonsense variant as pathogenic, likely to impact the homeostasis of ions, solutes, and other molecules, compromising membrane barrier and signaling in the inner ear spaces.
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Sonoyama, Toru, Takashi Ishino, Takashi Oda, et al. "Effectiveness of Expanded Instantaneous Input Dynamic Range Adjustment on Speech Perception." Journal of Personalized Medicine 12, no. 11 (2022): 1860. http://dx.doi.org/10.3390/jpm12111860.
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Instantaneous input dynamic range (IIDR), as defined by Cochlear Ltd. (Sydney, Australia), refers to the acoustic level of short-term input dynamic range (IDR). Our aim was to evaluate the efficacy of expanding IIDR to improve speech understanding. We enrolled 11 unilateral Cochlear Ltd. patients with post-lingual hearing loss. The two types of IIDR settings (T-SPL/C-SPL of 25/65 dB (default IIDR) and 25/80 dB (wide IIDR)) were blindly assigned, and only one IIDR setting selected according to their preference was used for at least three months. Each IIDR group was evaluated with both default and wide IIDR conditions using the recorded word and sentence test materials of the Japanese CD speech discrimination scoring system (CI-2004 test) in quiet and noise with a signal-to-noise ratio (SNR) of +10 dB, presented at 65/80 dB SPL. Wide IIDR significantly improved speech perception in all tests, except for sentences in quiet conditions at a presentation level of 65 dB. Improvements during loud conversations in noisy environments were obtained without any adaptation period. Wide IIDR should become a new individual configuration setting method in Cochlear Ltd. devices to improve hearing in loud conversations and noisy environments.
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Shafieibavani, Elaheh, Benjamin Goudey, Isabell Kiral, et al. "Predictive models for cochlear implant outcomes: Performance, generalizability, and the impact of cohort size." Trends in Hearing 25 (January 2021): 233121652110661. http://dx.doi.org/10.1177/23312165211066174.
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While cochlear implants have helped hundreds of thousands of individuals, it remains difficult to predict the extent to which an individual’s hearing will benefit from implantation. Several publications indicate that machine learning may improve predictive accuracy of cochlear implant outcomes compared to classical statistical methods. However, existing studies are limited in terms of model validation and evaluating factors like sample size on predictive performance. We conduct a thorough examination of machine learning approaches to predict word recognition scores (WRS) measured approximately 12 months after implantation in adults with post-lingual hearing loss. This is the largest retrospective study of cochlear implant outcomes to date, evaluating 2,489 cochlear implant recipients from three clinics. We demonstrate that while machine learning models significantly outperform linear models in prediction of WRS, their overall accuracy remains limited (mean absolute error: 17.9-21.8). The models are robust across clinical cohorts, with predictive error increasing by at most 16% when evaluated on a clinic excluded from the training set. We show that predictive improvement is unlikely to be improved by increasing sample size alone, with doubling of sample size estimated to only increasing performance by 3% on the combined dataset. Finally, we demonstrate how the current models could support clinical decision making, highlighting that subsets of individuals can be identified that have a 94% chance of improving WRS by at least 10% points after implantation, which is likely to be clinically meaningful. We discuss several implications of this analysis, focusing on the need to improve and standardize data collection.
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Королева, Инна В., Анна А. Балякова, Эльвира И. Столярова, Сергей П. Пак та Елена А. Огородникова. "Развитие процессов слухового анализа у пользователей кохлеарных имплантов с применением программных средств". Российский психологический журнал 20, № 3 (2023): 188–205. https://doi.org/10.21702/rpj.2023.3.10.
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Introduction. Modern technology for auditory prostheses (digital hearing aids, cochlear implantation) creates conditions for auditory rehabilitation of individuals with severe hearing loss and even deafness. In this case, the important task of developing and updating sensory experiences arises, including the formation of the primary auditory–speech analysis processes, the consolidation of new intersensory connections, and the mechanisms of auditory–motor integration, which form the basis for communication and cognitive activity under new interactions with the environment. An effective solution to this psychophysiological problem can be facilitated by using specialized software that provides a targeted training of the perception skills necessary to implement the function of auditory–speech communication in patients with hearing impairments and by objective assessment of the individual progress of their rehabilitation using psychophysical methods. This study aimed to test the effectiveness of using software in sophisticated situations of rehabilitation after cochlear implantation. Methods. The specially designed software tools were used to develop the processes of auditory analysis of perception and speech in cochlear implant users of different ages with pre- and post-lingual deafness. The results were assessed according to psychophysical testing based on quantitative indicators of correct recognition and reaction time. Three series of the study were related to the following sophisticated rehabilitation situations: (a) late implantation (n = 32), (b) auditory analysis of dynamic signals during the perception of prosodic information in speech (n = 36), and (c) in conditions of spatial orientation (n = 25). Results. New data and the results of their comparison indicated a significant improvement in the detection and analysis of basic spectral-temporal features of non-speech and speech signals (interruption by a pause, change in a rhythmic pattern of sound stimulation, location and movement of the sound source, phonetic categories and prosodic characteristics of speech), as well as the use of auditory–speech skills by cochlear implant users in everyday situations after training. Discussion. In general, experience in the practical use of software tools indicates that it is advantageous to integrate them into methodological tools for cochlear implant centers and auditory training in the education of children with hearing impairments.
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Cesca, Federica, Elisa Bettella, Roberta Polli, et al. "A novel mutation of the EYA4 gene associated with post-lingual hearing loss in a proband is co-segregating with a novel PAX3 mutation in two congenitally deaf family members." International Journal of Pediatric Otorhinolaryngology 104 (January 2018): 88–93. http://dx.doi.org/10.1016/j.ijporl.2017.10.042.
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Bustos-Rubilar, Mario, Fiona Kyle, Eliazar Luna, et al. "A country-wide health policy in Chile for deaf adults using cochlear implants: Analysis of health determinants and social impacts." PLOS ONE 18, no. 10 (2023): e0286592. http://dx.doi.org/10.1371/journal.pone.0286592.
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Background Post-lingual deafness represents a critical challenge for adults’ well-being with substantial public health burdens. One treatment of choice has been cochlear implants (CI) for people with severe to profound hearing loss (HL). Since 2018, Chile has implemented a high-cost policy to cover CI treatment, the “Ley Ricarte Soto" (LRS) health policy. However, wide variability exists in the use of this device. To date, no related study has been published on policy evaluation in Chile or other Latin American countries. Objectives This study aimed to evaluate the impact of the LRS policy on the treatment success and labour market inclusion among deaf or hard of hearing (DHH) adults using CI. We examined and characterised outcomes based on self-reports about treatment success and occupation status between 2018 and 2020. Design We performed a prospective study using hospital clinical records and an online questionnaire with 76 DHH adults aged >15 who had received CIs since the introduction of the LRS policy in 2018. Using univariate and multivariate regression models, we investigated the relationship between demographic, audiological, and social determinants of health and outcomes, including treatment success for social inclusion (International Outcome inventory for Hearing Aids and CIs assessment: IOI-HA) and occupation status for labour market inclusion. Results Our study showed elevated levels of treatment success in most of the seven sub-scores of the IOI-HA assessment. Similarly, around 70% of participants maintained or improved their occupations after receiving their CI. We found a significant positive association between treatment success and market inclusion. Participants diagnosed at younger ages had better results than older participants in both outcomes. Regarding social determinants of health, findings suggested participants with high social health insurance and a shorter commute time to the clinic had better results in treatment success. For labour market inclusion, participants with high education levels and better pre- CI occupation had better post-CI occupation status. Conclusions In evaluating the LRS policy for providing CIs for DHH adults in Chile, we found positive effects relating to treatment success and occupation status. Our study supports the importance of age at diagnosis and social determinants of health, which should be assessed by integrating public services and bringing them geographically closer to each beneficiary. Although evidence-based guidelines for candidate selection given by the LRS policy might contribute to good results, these guidelines could limit the policy access to people who do not meet the requirements of the guidelines due to social inequalities.
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Affaf Yousaf, Muhammad Umair Adeel, Nida Anjum Ghouri, et al. "EFFECT OF COCHLEAR IMPLANTATION IN PRE-LINGUAL ADULTS ON SPEECH DEVELOPMENT." Insights-Journal of Health and Rehabilitation 3, no. 2 (Health & Allied) (2025): 494–500. https://doi.org/10.71000/wy9a8b22.
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Background: Cochlear implants (CIs) have emerged as a transformative intervention for individuals with severe-to-profound sensorineural hearing loss. While extensive research has supported their effectiveness in post lingually deaf individuals, outcomes in prelingually deaf adults remain less explored. This population presents unique auditory and neurological challenges due to a lack of early sound exposure, which may affect speech and language development. Understanding the extent of benefits in this group is vital for evidence-based clinical decisions. Objective: To evaluate the impact of cochlear implantation on speech comprehension, social interaction, and overall quality of life in adults with prelingual deafness. Methods: A prospective cohort study was conducted over six months (July 2024 to December 2024) in the Department of Otorhinolaryngology. Seventy adults (n=70) with congenital or early-onset deafness who received cochlear implants were enrolled. Self-reported outcomes were assessed using the Abbreviated Profile of Hearing Aid Benefit (APHAB) and Short Form Health Survey (SF-36) both before and after implantation. Pre- and post-implantation data were statistically analyzed using paired tests, with significance set at p<0.05. Results: Post-implantation, participants showed significant improvements across all domains: telephone communication (85.71%), music perception (78.57%), social engagement (92.86%), speech comprehension (88.57%), and perceived quality of life (82.86%). The APHAB scale revealed a 28.5% overall reduction in listening difficulties, including improvements in ease of communication (p=0.001), background noise (p=0.003), aversiveness (p=0.020), and reverberation (p=0.010). SF-36 scores showed enhanced physical functioning (p<0.01), decreased pain (p<0.02), increased vitality (p<0.0001), and better mental health (p<0.01). Conclusion: Cochlear implants significantly enhance both objective hearing performance and subjective life quality in prelingually deaf adults. These findings support broader use of CIs in this population and emphasize the importance of early diagnosis and intervention.
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Affaf Yousaf, Muhammad Umair Adeel, Nida Anjum Ghouri, et al. "EFFECT OF COCHLEAR IMPLANTATION IN PRE-LINGUAL ADULTS ON SPEECH DEVELOPMENT." Insights-Journal of Health and Rehabilitation 3, no. 2 (Health & Rehab) (2025): 480–86. https://doi.org/10.71000/v6gyyc30.
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Background: Cochlear implants (CIs) have emerged as a transformative intervention for individuals with severe-to-profound sensorineural hearing loss. While extensive research has supported their effectiveness in post lingually deaf individuals, outcomes in prelingually deaf adults remain less explored. This population presents unique auditory and neurological challenges due to a lack of early sound exposure, which may affect speech and language development. Understanding the extent of benefits in this group is vital for evidence-based clinical decisions. Objective: To evaluate the impact of cochlear implantation on speech comprehension, social interaction, and overall quality of life in adults with prelingual deafness. Methods: A prospective cohort study was conducted over six months (July 2024 to December 2024) in the Department of Otorhinolaryngology. Seventy adults (n=70) with congenital or early-onset deafness who received cochlear implants were enrolled. Self-reported outcomes were assessed using the Abbreviated Profile of Hearing Aid Benefit (APHAB) and Short Form Health Survey (SF-36) both before and after implantation. Pre- and post-implantation data were statistically analyzed using paired tests, with significance set at p<0.05. Results: Post-implantation, participants showed significant improvements across all domains: telephone communication (85.71%), music perception (78.57%), social engagement (92.86%), speech comprehension (88.57%), and perceived quality of life (82.86%). The APHAB scale revealed a 28.5% overall reduction in listening difficulties, including improvements in ease of communication (p=0.001), background noise (p=0.003), aversiveness (p=0.020), and reverberation (p=0.010). SF-36 scores showed enhanced physical functioning (p<0.01), decreased pain (p<0.02), increased vitality (p<0.0001), and better mental health (p<0.01). Conclusion: Cochlear implants significantly enhance both objective hearing performance and subjective life quality in prelingually deaf adults. These findings support broader use of CIs in this population and emphasize the importance of early diagnosis and intervention.
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DENDYS, Konrad, Jan BIENIASZ, Paula BIGOS, Wojciech KUŹNICKI, Igor MATKOWSKI, and Piotr POTYRAŁA. "Cochlear implants – An Overview. Are CIs world's most successful sensory prostheses?" Journal of Education, Health and Sport 24, no. 1 (2023): 126–42. https://doi.org/10.12775/JEHS.2023.24.01.012.
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<strong>DENDYS, Konrad, BIENIASZ, Jan, BIGOS, Paula, KUŹNICKI, Wojciech, MATKOWSKI, Igor and POTYRAŁA, Piotr. Cochlear implants – An Overview. Are CIs world’s most successful sensory prostheses?</strong> <strong>Journal of Education, Health and Sport. 2023;</strong><strong>24</strong><strong>(1):</strong><strong>126-142.</strong><strong> eISSN 2391-8306. DOI </strong><strong>http://dx.doi.org/10.12775/JEHS.2023.24.01.01</strong><strong>2</strong> <strong>https://apcz.umk.pl/JEHS/article/view/44</strong><strong>794</strong> <strong>https://zenodo.org/record/8172947</strong> <strong>The journal has had 40 points in Ministry of Education and Science of Poland parametric evaluation. Annex to the announcement of the Minister of Education and Science of December 21, 2021. No. 32343.</strong> <strong>Has a Journal's Unique Identifier: 201159. Scientific disciplines assigned: Physical Culture Sciences (Field of Medical sciences and health sciences); Health Sciences (Field of Medical Sciences and Health Sciences).</strong> <strong>Punkty Ministerialne z 2019 - aktualny rok 40 punktów. Załącznik do komunikatu Ministra Edukacji i Nauki z dnia 21 grudnia 2021 r. Lp. 32343. Posiada Unikatowy Identyfikator Czasopisma: 201159.</strong> <strong>Przypisane dyscypliny naukowe: Nauki o kulturze fizycznej (Dziedzina nauk medycznych i nauk o zdrowiu); Nauki o zdrowiu (Dziedzina nauk medycznych i nauk o zdrowiu).</strong> <strong>© The Authors 2023;</strong> <strong>This article is published with open access at Licensee Open Journal Systems of Nicolaus Copernicus University in Torun, Poland</strong> <strong>Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike.</strong> <strong>(http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited.</strong> <strong>The authors declare that there is no conflict of interests regarding the publication of this paper.</strong> <strong>Received: </strong><strong>30</strong><strong>.0</strong><strong>6</strong><strong>.2023. Revised: </strong><strong>20</strong><strong>.0</strong><strong>7</strong><strong>.2023. Accepted: </strong><strong>20</strong><strong>.0</strong><strong>7</strong><strong>.2023. Published: </strong><strong>25</strong><strong>.0</strong><strong>7</strong><strong>.2023.</strong> <strong>Cochlear implants – An Overview</strong><strong>. </strong><strong>Are CIs world’s most successful sensory prostheses?</strong> <strong>Dendys Konrad</strong><strong><sup>1 </sup></strong>ORCID: 0000-0002-5631-9948, konrad.dendys1@gmail.com Jan Mikulicz-Radecki University Teaching Hospital, Borowska 213, 50-556 Wrocław <strong>Bieniasz Jan</strong><strong><sup>1</sup></strong> ORCID: 0000-0001-9139-9309, bjasiekb@interia.pl Jan Mikulicz-Radecki University Teaching Hospital, Borowska 213, 50-556 Wrocław <strong>Bigos Paula</strong><strong><sup>1 </sup></strong>ORCID: 0009-0003-5791-8963, bigospaula@gmail.com Jan Mikulicz-Radecki University Teaching Hospital, Borowska 213, 50-556 Wrocław <strong>Kuźnicki Wojciech</strong><strong><sup>1</sup></strong> ORCID: 0009-0008-8971-1410, wojciechkuznicki05@gmail.com Lower Silesian Oncology, Pulmunology and Hematology Center (DCOPiH), Ludwika Hirszfelda Square 12, 53-413 Wrocław <strong>Matkowski Igor</strong><strong><sup>1 </sup></strong>ORCID: 0009-0008-2829-9055, igor.matkowski2@gmail.com, Jan Mikulicz-Radecki University Teaching Hospital, Borowska 213, 50-556 Wrocław <strong>Potyrała Piotr</strong><strong><sup>1 </sup></strong>ORCID: 0009-0006-6304-9778, piotrekpotyrala@gmail.com, Lower Silesian Oncology, Pulmunology and Hematology Center (DCOPiH), Ludwika Hirszfelda Square 12, 53-413 Wrocław Keywords: cochlear implantation, deafness, cochlea, speech perception, speech processing <strong>Abstract:</strong> Cochlear implants (CIs) have greatly improved over the last 2 decades and now are the world’s most successful sensory prostheses, that restored hearing to more than 800,000 deaf people. CIs are small electronic devices that consists of an external portion that is located behind the ear and a second portion that is surgically fixed under the skin, they replace the function of the inner hair cells in the cochlea by direct electrical stimulation of the auditory nerve. Although cochlear implantation has been used for almost 50 years, the indications for this procedure are subject to constant modifications but the main indication is the inability to achieve sufficient speech understanding. Properly implanted, fitted, and rehabilitated hearing prostheses allow to achieve open speech understanding in 70-80% of post-lingual deafness patients and very good speech development results in children. These days cochlear implantation has become the treatment of choice for people with significant hearing loss and are constantly being developed intensively.
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Wang, Hongyang, Yun Gao, Jing Guan, et al. "Phenotypic Heterogeneity of Post-lingual and/or Milder Hearing Loss for the Patients With the GJB2 c.235delC Homozygous Mutation." Frontiers in Cell and Developmental Biology 9 (February 26, 2021). http://dx.doi.org/10.3389/fcell.2021.647240.
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ObjectiveTo report the phenotypic heterogeneity of GJB2 c.235delC homozygotes associated with post-lingual and/or milder hearing loss, and explore the possible mechanism of these unconditional phenotypes.MethodsMutation screening of GJB2 was performed on all ascertained members from Family 1006983 and three sporadic patients by polymerase chain reaction (PCR) amplification and Sanger sequencing. Next generation sequencing (NGS) was successively performed on some of the affected members and normal controls from Family 1006983 to explore additional possible genetic codes. Reverse transcriptase–quantitative PCR was conducted to test the expression of Connexin30.ResultsWe identified a Chinese autosomal recessive hearing loss family with the GJB2 c.235delC homozygous mutation, affected members from which had post-lingual moderate to profound hearing impairment, and three sporadic patients with post-lingual moderate hearing impairment, instead of congenital profound hearing loss. NGS showed no other particular variants. Overexpression of Connexin30 in some of these cases was verified.ConclusionPost-lingual and/or moderate hearing impairment phenotypes of GJB2 c.235delC homozygotes are not the most common phenotype, revealing the heterogeneity of GJB2 pathogenic mutations. To determine the possible mechanism that rescues part of the hearing or postpones onset age of these cases, more cases are required to confirm both Connexin30 overexpression and the existence of modifier genes.
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Thangavelu, Kruthika, Markus Nitzge, Rainer M. Weiß, Jochen Mueller-Mazzotta, Boris A. Stuck, and Katrin Reimann. "Role of cochlear reserve in adults with cochlear implants following post-lingual hearing loss." European Archives of Oto-Rhino-Laryngology, August 10, 2022. http://dx.doi.org/10.1007/s00405-022-07558-6.
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Abstract Introduction Pre-operative assessments before cochlear implantation (CI) includes the examination of both tone hearing, and the level of the cochlear reserve indicated by speech understanding. The goal of this study was to explore the predictive influence of tone hearing and cochlear reserve in CI. Methods We did a retrospective cohort study, which included adult patients who had undergone CI between January 2012 and December 2019 in a tertiary care center. The pre-operative tone hearing, unaided maximum monosyllabic word recognition score (WRSmax), aided hearing gain, aided monosyllabic word recognition score at 65 dB (WRS65(HA)), and speech perception gap (SPG) were measured. The duration of unaided hearing loss (UHL) was also assessed. These variables were compared with post-operative monosyllabic word recognition score after CI at 65 dB (WRS65(CI)). Results 103 patients and 128 ears were included in this study. Regardless of tone hearing, patients with better pre-operative WRSmax and WRS65(HA) performed better post-operatively. WRSmax was found to be the most important factor that was statistically significantly associated with WRS65(CI). SPG was statistically significantly associated with WRSmax and SPG ≥ 20% group performed better post-operatively. Any duration of unaided hearing loss was statistically significantly inversely associated with WRSmax above 0%. Conclusion Cochlear reserve represented by WRSmax may play the most important role as a predictive factor in outcomes after CI. SPG should be considered for indicating CI in patients, when WRS65(HA) does not reach WRSmax. Early rehabilitation with hearing aids and duration of hearing aid usage might play an important role in preserving cochlear reserve in adults.
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Rim, John Hoon, Byunghwa Noh, Young Ik Koh, et al. "Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation." Human Genetics, September 14, 2021. http://dx.doi.org/10.1007/s00439-021-02367-z.
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AbstractSki-slope hearing loss (HL), which refers to increased auditory threshold at high frequencies, is common in adults. However, genetic contributions to this post-lingual HL remain largely unknown. Here, we prospectively investigated deafness-associated and novel candidate genes causing ski-slope HL. We analyzed 192 families with post-lingual HL via gene panel and/or exome sequencing. With an overall molecular diagnostic rate of 35.4% (68/192) in post-lingual HL, ski-slope HL showed a lower diagnostic rate (30.7%) compared with other conditions (40.7%). In patients who showed HL onset before the age of 40, genetic diagnostic probability was significantly lower for ski-slope HL than for other conditions. Further analysis of 51 genetically undiagnosed patients in the ski-slope HL group identified three variants in delta-like ligand 1 (DLL1), a Notch ligand, which presented in vitro gain-of-function effects on Notch downstream signaling. In conclusion, genetic diagnostic rates in post-lingual HL varied according to audiogram patterns with age-of-onset as a confounding factor. DLL1 was identified as a candidate gene causing ski-slope HL.
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Xiao, Yun, Lei Chen, Kaifan Xu, et al. "Gain-of-function variants in GSDME cause pyroptosis and apoptosis associated with post-lingual hearing loss." Human Genetics, July 27, 2024. http://dx.doi.org/10.1007/s00439-024-02694-x.
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AbstractGasdermin E (GSDME), a member of the gasdermin protein family, is associated with post-lingual hearing loss. All GSDME pathogenic mutations lead to skipping exon 8; however, the molecular mechanisms underlying hearing loss caused by GSDME mutants remain unclear. GSDME was recently identified as one of the mediators of programmed cell death, including apoptosis and pyroptosis. Therefore, in this study, we injected mice with GSDME mutant (MT) and examined the expression levels to assess its effect on hearing impairment. We observed loss of hair cells in the organ of Corti and spiral ganglion neurons. Further, the N-terminal release from the GSDME mutant in HEI-OC1 cells caused pyroptosis, characterized by cell swelling and rupture of the plasma membrane, releasing lactate dehydrogenase and cytokines such as interleukin-1β. We also observed that the N-terminal release from GSDME mutants could permeabilize the mitochondrial membrane, releasing cytochromes and activating the mitochondrial apoptotic pathway, thereby generating possible positive feedback on the cleavage of GSDME. Furthermore, we found that treatment with disulfiram or dimethyl fumarate might inhibit pyroptosis and apoptosis by inhibiting the release of GSDME-N from GSDME mutants. In conclusion, this study elucidated the molecular mechanism associated with hearing loss caused by GSDME gene mutations, offering novel insights for potential treatment strategies.
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Khalil, Athar, Samer Bou Karroum, Rana Barake, et al. "Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF." BMC Medical Genetics 21, no. 1 (2020). http://dx.doi.org/10.1186/s12881-019-0942-4.
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Abstract Background Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1–5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases. Methods In the current study, we reported a polygenic mode of inheritance in an NSHL consanguineous family using exome sequencing technology and we evaluated the possible effect of the detected single nucleotide variants (SNVs) using in silico methods. Results Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel MITF p. Pro338Leu missense mutation was predicted to change the protein structure and function. Conclusion A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic HL case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity.
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Abdelmawgoud, Salwa. "The outcome of various amplification strategies in post-lingual sensorineural hearing loss patients." Egyptian Journal of Ear, Nose, Throat and Allied Sciences, December 13, 2020, 0. http://dx.doi.org/10.21608/ejentas.2020.43127.1254.
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Kitajiri, S., T. Makishima, Tb Friedman, and Aj Griffith. "A novel mutation at the DFNA36 hearing loss locus reveals a critical function and potential genotype-phenotype correlation for amino acid-572 of TMC1." January 23, 2007. https://doi.org/10.1111/j.1399-0004.2007.00739.x.
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We ascertained a North American Caucasian family (LMG248) segregating autosomal dominant, non‐syndromic, post‐lingual, progressive sensorineural hearing loss. The hearing loss begins in the second decade of life and initially affects high frequencies. It progresses to profound deafness at all frequencies by the fourth or fifth decade. The phenotype co‐segregates with short‐tandem repeat markers flanking the TMC1 gene at the DFNA36 locus on chromosome 9q31‐q21. The affected individuals carry a novel missense substitution, p.D572H (c.G1714C), of the TMC1 gene. This mutation is at the same nucleotide and amino acid position as the only other reported DFNA36 mutation, p.D572N (c.G1714A). Our observations implicate a critical function for amino acid‐572 for wild‐type TMC1 function or the pathogenesis of DFNA36 hearing loss. The slower progression of hearing loss associated with p.D572H, in comparison with that caused by p.D572N, may reflect a correlation of DFNA36 phenotype with TMC1 genotype.
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Pan, Chen, Yunmei Zhang, Siqi Yang, et al. "A novel MYH9 mutation related to non-syndromic delayed post-lingual sensorineural hearing loss." European Archives of Oto-Rhino-Laryngology, July 6, 2021. http://dx.doi.org/10.1007/s00405-021-06976-2.
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