Search Results (114)

Background/Objectives: Congenital rubella syndrome (CRS) is an infection caused by rubella virus transmitted to the fetus during pregnancy, which can cause congenital hearing loss. Cochlear implant can be an effective therapy in patients with severe to profound bilateral hearing loss. The aim of this study was to evaluate the benefits of cochlear implantation in patients with profound hearing loss caused by congenital rubella syndrome. Methods: In total, 38 patients with profound hearing loss caused by intrauterine rubella virus infection were considered for cochlear implantation. Patients ranged in age from 8 to 72 years on the day of surgery, with a mean age of 27 years and median of 25 years (SD = 13.2). Preoperatively, all patients underwent pure-tone audiometry, and free-field speech audiometry was conducted in a quiet environment with the patient wearing a fitted hearing aid. Postoperatively, patients underwent pure-tone audiometry to assess residual hearing, and free-field speech audiometry was conducted when the patients had an active implant. Results: The average preoperative hearing threshold (averaged across the seven frequencies from 0.125 to 8 kHz) was 99.2 dB HL (SD = 6.79), while the average postoperative hearing threshold was 103.4 dB HL (SD = 5.74). Twelve months after the operation, patients achieved a WRS in quiet scores ranging from 10% to 90%, with an average of 59.1% and median of 70% (SD = 25.8). Conclusions: Rubella during pregnancy can lead to severe congenital defects, with sensorineural hearing loss being the most common. Cochlear implants appear to be an effective treatment for profound hearing loss caused by congenital rubella syndrome. Full article

Background: Primary ciliary dyskinesia (PCD) is a rare hereditary disorder caused by defective motile cilia, predominantly affecting the respiratory system. Conductive hearing loss (CHL) due to chronic otitis media with effusion (OME) is a typical feature of PCD, particularly in childhood. However, the underlying mechanisms contributing to sensorineural hearing loss (SNHL) in patients with PCD remain unclear. Methods: We present the case of a 52-year-old male with a clinical diagnosis of PCD, confirmed by the presence of situs inversus, chronic respiratory symptoms, and ultrastructural ciliary defects. Results: Despite a history of recurrent acute otitis media (AOM), the patient developed severe bilateral SNHL, a relatively uncommon and poorly understood manifestation of PCD. Genetic testing revealed a pathogenic SH3TC2 variant, a gene classically associated with Charcot–Marie–Tooth disease type 4C (CMT4C), raising the possibility of an alternative or contributory genetic etiology for the patient’s auditory dysfunction. Conclusions: This case highlights the importance of comprehensive audiological and genetic evaluations in PCD patients, particularly those presenting with progressive or atypical HL. The presence of a pathogenic SH3TC2 mutation suggests a potential neuropathic component to the patient’s HL, underscoring the need for further research into the intersection between ciliary dysfunction and genetic neuropathies. Early identification and intervention are critical to optimizing auditory outcomes and quality of life in affected individuals. Full article

Hearing loss (HL) is a major global health concern, with drug-induced ototoxicity contributing significantly, particularly in patients undergoing treatment for drug-resistant tuberculosis (DR-TB). In South Africa, where both TB and HIV are prevalent, the risk of treatment-related auditory damage is especially high. This study aimed to assess the prevalence and predictors of hearing impairment among DR-TB patients in rural Eastern Cape, South Africa. A retrospective analysis was conducted on 438 DR-TB patients treated between 2018 and 2020, using pure tone audiometry (PTA) to assess hearing status post-treatment. Demographic, clinical, and lifestyle data were extracted from patient records and analyzed using logistic regression. The overall prevalence of hearing loss was 37.2%. Risk was significantly associated with an older age, a male gender, DR-TB classification (MDR, pre-XDR, and XDR), unsuccessful treatment outcomes, and substance use. Prevalence of HL increased notably in patients aged 70 and older. Lifestyle factors, particularly combined use of tobacco, alcohol, and drugs, were linked to higher odds of HL. These findings underscore the need for routine audiometric screening and personalized treatment monitoring in DR-TB care, especially for high-risk populations. Early identification of ototoxicity risk factors can inform safer treatment regimens and improve patient outcomes in resource-limited settings. Full article

Background/Objectives: Hearing loss (HL) is a prevalent condition that can lead to social exclusion. This review explores the epidemiological, cultural, and social dimensions of HL and examines the barriers to accessibility that individuals with HL encounter. Methods: This research employs a narrative review approach to provide a comprehensive overview of HL, focusing on stigma, gender disparities, cultural and social differences, and accessibility challenges. Results: The review highlights pervasive prejudices surrounding HL and hearing devices. Gender disparities are evident, with Deaf women facing compounded challenges. Cultural perspectives on HL differ widely, ranging from the medical model, which emphasizes treatment using hearing devices, to the Deaf community’s social model, which views deafness as a cultural identity. Socioeconomic disparities further restrict access to modern technologies, particularly in low-income settings, while intersectional discrimination affects marginalized groups within the Deaf community. Public spaces also present significant barriers related to communication, architecture, and technology, which hinder accessibility for individuals with HL. Conclusions: A cultural shift is essential to dismantle societal stereotypes and reduce discrimination associated with HL. Moreover, improving accessibility for individuals with HL necessitates a multifaceted approach, including accessible design, staff training, and the integration of assistive technologies. Full article

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. Full article

Background/Objectives: Unilateral hearing loss (UHL) is a relatively common disability condition comprising around 20–50% of all congenital hearing loss (HL). The adverse effects of UHL affect the typical development of auditory function with implications for communication, speech and language acquisition, academic development and quality of life. Current literature suggests an early intervention treatment in order to avoid developmental delays, but there is a lack of evidence about the effectiveness and use of hearing devices. The purpose of the present study was to evaluate the benefits of rehabilitative strategies such as hearing aid (HA) and cochlear implant (CI) in UHL children by exploring audiological and parent-reported outcomes. Methods: A total of 18 UHL children, between the ages of 3 and 17, were enrolled in the study designed as a prospective longitudinal study from July 2023 to July 2024. All children were evaluated for speech perception in quiet and noise and subjective benefits before and after rehabilitative treatment with HA in 15 (83.3%) children and with CI in 3 (16.7%) children. Results: The evaluation of audiological outcomes in children with UHL, based on assessment of aided sound field thresholds and speech perception scores assessment versus unaided, shows improvements in audiometric thresholds and how the hearing devices adequately support listening and spoken language. Scores with hearing devices were significantly higher than baseline-only scores when averaging both SSQ and CHILD questionnaires, pointing to an overall rehabilitative benefit. Conclusions: Rehabilitative interventions, particularly HA and CI, offer notable benefits when introduced early, but achieving optimal outcomes requires a multidisciplinary and individualized approach. Full article

Background/Objectives: Sensorineural hearing loss (HL) is a highly prevalent chronic health condition. It can be managed through hearing care, including the use of hearing aids (HAs). Still, a majority of individuals with HL remain undiagnosed or untreated. Virtual care delivery may support uptake and adherence to interventions. In blended care, individuals can choose interchangeably between in-person and virtual services. This study aimed to investigate how real-world individuals accessed blended hearing care (through in-person, virtual, or hybrid services), the amount of support they received, and their satisfaction with services and products. Methods: An exploratory, retrospective analysis was performed on longitudinal observational data collected through Australia’s longest-running blended hearing care model. A total of 25,058 appointment records were available, matched to HA purchase records and clinical notes where possible, as well as 916 satisfaction ratings. Results: The majority of individuals attended in-person appointments (75%); 25% were virtual or hybrid appointments. The number of appointments attended depended on how HAs were purchased (in-person, virtually, or hybrid), but all modalities were complemented by ample unscheduled email and telephone support. Of those who purchased HAs repeatedly, 49% changed preferred sales channel (in-person versus virtual) over time. Satisfaction ratings were highest for virtual services. Conclusions: This first report of real-world, longitudinal evidence on blended hearing care showed strong attendance of in-person appointments, while hybrid services—including informal; unscheduled support—may have responded to individuals’ changing needs and preferences over time. The findings offer practice-based evidence for blended care models and recommendations for further research. Full article

Background: The Music-Related Quality of Life (MuRQoL) was launched in 2017 as a valid psychometric measure of Cochlear Implant (CI) users’ music experience and its impact on Quality of Life (QoL). This scoping review aimed to explore the implementation and effectiveness of the instrument since its introduction. Methods: PubMed and Google Scholar databases were searched for publications written in English reporting a translation, validation or application of the MuRQoL. Results: Eleven publications were found, including three validated versions and eight studies that applied the MuRQoL in Italy, Turkey, Spain and the US in research and clinical settings for various purposes. The review showcases the reliability, validity and potential clinical utility of the tool underscoring its growing adoption and integration with other assessment tools. Based on the findings, we make recommendations and provide a roadmap for optimizing the use of MuRQoL globally, including naming and terminology conventions. Anecdotal evidence, such as forthcoming or non-English publications offer further insights into the tool’s future potential. Conclusions: The MuRQoL is currently available in four languages and applicable across diverse cultural contexts, populations and settings. It is a versatile, patient-centered tool providing a deep understanding of CI users’ music experiences. As research and validation efforts continue, the instrument has the potential to set a benchmark for assessing the broader impacts of CIs beyond speech perception, emphasizing the significance of music in enriching the lives of individuals with Hearing Loss (HL). Full article

Background: Auditory Verbal Therapy (AVT) has spread globally in the past few years due to its proven positive effect as a rehabilitation method for children with hearing loss (HL). In 2023, a three-year hospital-based AV intervention was implemented in Denmark as a government-funded offer to all children with HL. In the present study, we introduce and study a protocol for facilitating this implementation with a specific focus on clinical applicability and quality assurance. Methods: A working group was set up to drive the implementation process and establish a base for clinical collaboration and coproduction. The final protocol included (1) regular workshops and meetings with all AV specialists, (2) the creation of a database to collect data on the effect of the intervention, and (3) mandatory testing of the auditory skills and receptive vocabulary of the children with HL and a screening of their behavioural and emotional status with the Strengths and Difficulties Questionnaire (SDQ). Results: Data from 53 children with a mean age of 6.6 years were analysed in this study. Results from the SDQ showed that the children scored like the Danish norm on both the SDQ total difficulty score and SDQ prosocial score. Conclusions: This study’s findings indicate that children with HL, who participated in three years of hospital-based AV intervention, demonstrate the same emotional and behavioural problems and the same social strengths as their hearing peers. We hope that this study can inspire and guide others who want to implement an AV intervention in a hospital setting. Full article

Background: Sensorineural hearing loss (SNHL) is a major contributor to hearing impairment, yet effective therapeutic options remain elusive. Mendelian randomization (MR) has proven valuable for drug repurposing and identifying new therapeutic targets. This study aims to pinpoint novel treatment targets for SNHL, exploring their pathophysiological roles and potential adverse effects. Methods: This research utilized the UKB-PPP database to access cis-protein quantitative trait locus (cis-pQTL) data, with SNHL data sourced from the FinnGen database as the endpoint for the MR causal analysis of drug targets. Colocalization analysis was employed to determine whether SNHL risk and protein expression share common SNPs. A phenotype-wide association analysis was conducted to assess the potential side effects of these targets. Drug prediction and molecular docking were subsequently used to evaluate the therapeutic potential of the identified targets. Results: Four drug target proteins significantly associated with sensorineural hearing loss (SNHL) were determined by Mendelian randomization (MR) analysis and co-localization analysis. These drug targets include LATS1, TEF, LMNB2, and OGFR and were shown to have fewer potential side effects when acting on these target proteins by phenotype-wide association analysis. Genes associated with sensorineural hearing loss are primarily implicated in the Hippo signaling pathway, cell–cell adhesion, and various binding regulatory activities and are involved in the regulation of cell proliferation and apoptosis. Next, drugs for the treatment of SNHL were screened by the DsigDB database and molecular docking, and the top 10 drugs were selected based on p-value. Among them, atrazine CTD 00005450 was identified as the most likely therapeutic target, followed by ampyrone HL60 DOWN and genistein CTD 00007324. In addition, LMNB2, LATS1, and OGFR could be intervened in by multiple drugs; however, fewer drugs intervened in TEF. Conclusion: This study has successfully identified four promising drug targets for SNHL, which are likely to be effective in clinical trials with minimal side effects. These findings could significantly streamline drug development for SNHL, potentially reducing the costs and time associated with pharmaceutical research and development. Full article

Background: The reported data on African universal neonatal hearing screening (UNHS) practices tend to be quite scarce, despite the developments in hearing screening the last two decades. The objective of this systematic review was (a) to identify the most recent (in a 20-year span) literature information about NHS/UNHS programs in Africa and (b) to provide data on the procedures used to assess the population, the intervention policies, and on the estimated prevalence of congenital hearing loss with an emphasis on bilateral hearing loss cases. Methods: Queries were conducted via the PubMed, Scopus, and Google Scholar databases for the time window of 2004–2024. The mesh terms used were “OAE”, “universal neonatal hearing screening”, “congenital hearing loss”, “well babies”, and “Africa”. Only research articles and review papers were considered as good candidates. The standard English language filter was not used, to identify information from non-English-speaking scientific communities and groups. Results: Data from 15 papers were considered, reflecting the neonatal hearing practices of nine African states. No country-wide NHS programs were reported. The various screening realities are implemented within big urban centers, leaving the residents of rural areas unassisted. For the latter, proposals based on tele-medicine protocols have been suggested. The data on HL prevalence are also incomplete, but the available data refer to rates from 3 to 360 subjects per 1000. These data cannot be taken at face value but within the small sample size context in which they were acquired. Regarding the causes of HL, very few data have been reported; consanguinity is the most attributed factor, at least in the Sub-Saharan African states. For the majority of the programs, no data were reported on hearing loss prevalence/incidence or on any strategies to restore hearing. Conclusions: The information on the African neonatal hearing screening are quite scarce, and it is an urgent need to convince audiologists from the African localized programs to publish their hearing screening data. Full article

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. Full article

Objectives: Hearing aids (HAs) have been used for standard high-frequency hearing loss and tinnitus, but their effects on speech intelligibility in noise (SIN) in people with normal hearing, including hidden hearing loss (HHL), have been little explored. Methods: We included in a prospective cohort study patients who experience poor SIN and have normal pure tone average in quiet conditions or slight HL. We used open-fit HAs. The FraMatrix test was used to explore SIN. The benefit of HAs in daily situations and for tinnitus was evaluated. Results: Forty patients were explored, including 12 with HHL. FraMatrix and quality of life improved significantly (p < 0.001) with HAs, especially in those with HHL (2.0 dB SNR of speech recognition threshold improvement). HAs also effectively suppress tinnitus. Participants used HAs 9.9 h per day. Conclusions: This study shows an improvement of SIN with HAs in patients with slight HL but more importantly in patients with HHL. Full article

Background/Objectives: The OTOG gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and is assigned as DFNB18B. To date, 44 causative OTOG variants have been reported to cause non-syndromic hearing loss. However, the detailed clinical features for OTOG-associated hearing loss remain unclear. Methods: In this study, we analyzed 7065 patients with non-syndromic hearing loss (mean age 26.4 ± 22.9 years, 2988 male, 3855 female, and 222 without gender information) using massively parallel DNA sequencing for 158 target deafness genes. We identified the patients with biallelic OTOG variants and summarized the clinical characteristics. Results: Among the 7065 patients, we identified 14 possibly disease-causing OTOG variants in 26 probands, with 13 of the 14 variants regarded as novel. Patients with OTOG-associated hearing loss mostly showed congenital or childhood-onset hearing loss. They were considered to show non-progressive, mild-to-moderate hearing loss. There were no symptoms that accompanied the hearing loss in OTOG-associated hearing loss patients. Conclusions: We confirmed non-progressive, mild-to-moderate hearing loss as the clinical characteristics of OTOG-associated hearing loss. These findings will contribute to a better understanding of the clinical features of OTOG-associated HL and will be useful in clinical practice. Full article

Background/Objectives: Conventional audiometry assesses hearing in the frequency range of 250–8000 Hz, while humans can detect sounds from 20 to 20,000 Hz. Hearing sensitivity above 8000 Hz can be assessed through “Extended high-frequency audiometry (EHFA)”, which is useful for early detection and monitoring of hearing loss and counseling for tinnitus patients. Despite its usefulness, age significantly affects hearing sensitivity. Currently, there are no standard hearing thresholds in the EHF range categorized by age groups in Thailand. In this study, the aim was to determine normative EHFA data across different age groups in a healthy Thai population. Methods: This study included 134 participants aged 18–70 years, categorized into five age groups. All participants had normal hearing thresholds and type A tympanograms bilaterally. Following this, EHFA measurement was performed. Results: Across all age groups, there was an observed increase in median hearing thresholds as age increased. In comparison, no significant difference in median hearing thresholds was found between individuals aged 18–30 and >30–40 years. However, those over 40 years had significantly higher median thresholds across all frequencies compared to those under 40 years (p < 0.05). Based on these findings, we propose two new subgroups of 18–40 years and >40–70 years. Median hearing thresholds for those aged 18–40 was ≤20 dB HL across most frequencies, except at 16,000 Hz (30 dB HL). In the >40–70 age group, thresholds ranged from 20 dB HL at 9000 Hz to 70 dB HL at 14,000 and 16,000 Hz. However, no significant differences were found in hearing thresholds between sexes and ear sides. Conclusions: In this study, normative EHFA data were established for healthy Thai adults, appropriately divided into two groups (18–40 and >40–70 years) for clinical use. Further studies with more participants per age group are also needed to validate the results. Full article