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Search Results (166)

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Keywords = hearing-impaired individuals

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31 pages, 708 KiB  
Article
Applying the Analytic Hierarchy Process (AHP) to Accessible Housing: A Multi-Disability Perspective
by Claudia Valderrama-Ulloa, Ximena Ferrada and Felipe Herrera
Disabilities 2025, 5(2), 48; https://doi.org/10.3390/disabilities5020048 - 21 May 2025
Viewed by 241
Abstract
Accessible housing plays a vital role in promoting independent living and quality of life for people with disabilities. However, the existing design standards often fail to address the specific needs of diverse disability groups. This study aims to establish architectural and habitability criteria [...] Read more.
Accessible housing plays a vital role in promoting independent living and quality of life for people with disabilities. However, the existing design standards often fail to address the specific needs of diverse disability groups. This study aims to establish architectural and habitability criteria for housing adapted to various disabilities, including wheelchair users, individuals with achondroplasia (little people), Autism Spectrum Disorder (ASD) and Down syndrome, individuals with visual and hearing impairments, and older adults, by integrating international frameworks and prior research. The Analytic Hierarchy Process (AHP) was used to prioritize key factors in the housing design. The factors analyzed included autonomy, independence, safety, comfort, communication, and mobility. Findings reveal that autonomy consistently emerged as the most relevant criterion across groups, particularly for older adults (61.8%), wheelchair users (83%) and little people (64%). Secondary priorities varied: mobility was emphasized by wheelchair users (77%), communication by visually impaired individuals (64%), and comfort by deaf and hard of hearing participants (43%). The results underscore the need for housing solutions that reflect the priorities of each disability group. This study contributes by validating user-centered design criteria and offering a framework to guide inclusive housing policies and practices. By highlighting needs, it bridges the gap between generic accessibility standards and design. These findings support policy development and enrich the literature by incorporating unique resident-centered perspectives and overlooked indicators of housing accessibility and inclusive residential design. Full article
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16 pages, 679 KiB  
Article
Exploring Adolescents’ Perceptions of Hearing Loss and Hearing Aids in Greece: A Survey Study
by Ioanna Fragoulia, Nikolaos Trimmis and Voula Chris Georgopoulos
Audiol. Res. 2025, 15(3), 58; https://doi.org/10.3390/audiolres15030058 - 12 May 2025
Viewed by 331
Abstract
Objectives: This study investigates Greek teenagers’ general knowledge and perception of hearing loss, hearing aid accessibility, and the challenges associated with hearing impairment. Methods: A 27-item self-reported questionnaire was developed and distributed to 152 participants (aged 12–18) to assess their familiarity with [...] Read more.
Objectives: This study investigates Greek teenagers’ general knowledge and perception of hearing loss, hearing aid accessibility, and the challenges associated with hearing impairment. Methods: A 27-item self-reported questionnaire was developed and distributed to 152 participants (aged 12–18) to assess their familiarity with hearing loss, amplification availability, communication strategies, and perceptions of hearing loss. Results: While 94.7% of participants recognized that hearing loss affects communication, only 10.5% correctly identified how hearing aids are accessed. Additionally, 42.1% reported having temporarily experienced some form of hearing loss. Most participants (94.7%) acknowledged communication difficulties faced by individuals with hearing loss, and only 3.4% reported being unable to communicate effectively with someone affected. Among those aware of bullying incidents involving individuals with hearing loss, 78.1% identified classmates as the primary source. Conclusions: These findings are consistent with international research and highlight the need for targeted education, awareness initiatives, and clearer access pathways to hearing technology. Improving adolescent hearing health literacy may facilitate early intervention, reduce stigma, and promote inclusion for peers affected by hearing impairment. Full article
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29 pages, 4936 KiB  
Article
Continuous Arabic Sign Language Recognition Models
by Nahlah Algethami, Raghad Farhud, Manal Alghamdi, Huda Almutairi, Maha Sorani and Noura Aleisa
Sensors 2025, 25(9), 2916; https://doi.org/10.3390/s25092916 - 5 May 2025
Viewed by 438
Abstract
A significant communication gap persists between the deaf and hearing communities, often leaving deaf individuals isolated and marginalised. This challenge is especially pronounced for Arabic-speaking individuals, given the lack of publicly available Arabic Sign Language datasets and dedicated recognition systems. This study is [...] Read more.
A significant communication gap persists between the deaf and hearing communities, often leaving deaf individuals isolated and marginalised. This challenge is especially pronounced for Arabic-speaking individuals, given the lack of publicly available Arabic Sign Language datasets and dedicated recognition systems. This study is the first to use the Temporal Convolutional Network (TCN) model for Arabic Sign Language (ArSL) recognition. We created a custom dataset of the 30 most common sentences in ArSL. We improved recognition performance by enhancing a Recurrent Neural Network (RNN) incorporating a Bidirectional Long Short-Term Memory (BiLSTM) model. Our approach achieved outstanding accuracy results compared to baseline RNN-BiLSTM models. This study contributes to developing recognition systems that could bridge communication barriers for the hearing-impaired community. Through a comparative analysis, we assessed the performance of the TCN and the enhanced RNN architecture in capturing the temporal dependencies and semantic nuances unique to Arabic Sign Language. The models are trained and evaluated using the created dataset of Arabic sign gestures based on recognition accuracy, processing speed, and robustness to variations in signing styles. This research provides insights into the strengths and limitations of TCNs and the enhanced RNN-BiLSTM by investigating their applicability in sign language recognition scenarios. The results indicate that the TCN model achieved an accuracy of 99.5%, while the original RNN-BiLSTM model initially achieved a 96% accuracy but improved to 99% after enhancement. While the accuracy gap between the two models was small, the TCN model demonstrated significant advantages in terms of computational efficiency, requiring fewer resources and achieving faster inference times. These factors make TCNs more practical for real-time sign language recognition applications. Full article
(This article belongs to the Special Issue Sensor-Based Behavioral Biometrics)
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8 pages, 180 KiB  
Article
The Association Between Sensory Impairment and Adherence to COVID-19 Prevention Measures in the Adult California Health Interview Survey Population
by Catherine T. Cascavita, Ahmad Santina, Ken Kitayama, Fei Yu, Victoria L. Tseng and Anne L. Coleman
Vision 2025, 9(2), 40; https://doi.org/10.3390/vision9020040 - 2 May 2025
Viewed by 261
Abstract
This study explores the association between vision/hearing impairment and COVID-19 prevention strategies in the 2020 and 2021 California Health Interview Survey (CHIS). This cross-sectional study used data from the 2020 and 2021 CHIS. The exposure of interest was self-reported history of sensory impairment. [...] Read more.
This study explores the association between vision/hearing impairment and COVID-19 prevention strategies in the 2020 and 2021 California Health Interview Survey (CHIS). This cross-sectional study used data from the 2020 and 2021 CHIS. The exposure of interest was self-reported history of sensory impairment. The outcome of interest was adherence to COVID-19 mitigation strategies defined as obtaining a COVID-19 vaccine, face mask adherence, hand washing, social distancing, and not gathering with non-household members. Logistic regression models examined the association between sensory impairment and adherence to COVID-19 mitigation strategies, controlling for age, sex, race and ethnicity, general health status, and household income. All analyses were weighted according to the CHIS sampling design. With 24,453 California adults representing 29,649,837 people, the weighted prevalence of sensory impairment was 6.1% (1,808,640/29,649,837). The regression revealed that adults with sensory impairment were 80% more likely not to maintain social distancing (odds ratio: 1.80, 95%CI: 1.03–3.13, p = 0.04) compared to those without impairment. No significant differences were found for adherence to other COVID-19 strategies. Individuals with sensory impairment may have increased difficulty with physical distancing due to their underlying impairment. Further studies are needed to explore risk reduction strategies for COVID-19 and the transmission of other infections for those with sensory impairment. Full article
14 pages, 265 KiB  
Article
Suicide Risk in People with Hearing Impairment in the Post-COVID-19 Period: The CaViDAuCo Study
by Nerea Moreno-Herraiz, Iván Cavero-Redondo, Iris Otero-Luis, Carlos Pascual-Morena, María Dolores Gómez-Guijarro, Irene Martínez-García and Alicia Saz-Lara
J. Clin. Med. 2025, 14(9), 3130; https://doi.org/10.3390/jcm14093130 - 30 Apr 2025
Viewed by 210
Abstract
Background/Objectives: During the COVID-19 pandemic, suicide risk increased in the general population and persisted in the post-pandemic period. People with hearing impairment faced communication barriers that negatively affected their mental health. However, there is no evidence on whether they have an increased [...] Read more.
Background/Objectives: During the COVID-19 pandemic, suicide risk increased in the general population and persisted in the post-pandemic period. People with hearing impairment faced communication barriers that negatively affected their mental health. However, there is no evidence on whether they have an increased suicide risk in the post-pandemic period. This study aimed to assess the association between mental disorders, quality of life, and suicide risk in individuals with hearing impairment in the post-COVID-19 period. Methods: A cross-sectional study was conducted with 103 participants with hearing impairment from the CaViDAuCo study. Adjusted and unadjusted differences in mental disorders (depression, anxiety, and stress) and quality of life (physical and mental) were analyzed using Student’s t test and ANCOVA according to suicide risk. Results: Depression, anxiety, stress, and mental quality of life in people with hearing impairment were significantly associated with suicide risk (unadjusted, models 1 and 2, p < 0.001; Cohen’s d = 1.4, 1.4, 1.3, and −1.0, respectively). Due to the cross-sectional design, no causal relationships can be established. Conclusions: In the post-pandemic period, participants with hearing impairment exhibited a significant association between suicide risk, mental disorders, and poor mental quality of life. Although causality cannot be established, and the results should be interpreted with caution due to the small sample size, these findings underscore the need to improve mental health accessibility and implement inclusive communication policies. Further research is needed to better understand these associations and design effective interventions that promote the mental health and quality of life of people with hearing impairment. Full article
(This article belongs to the Special Issue New Insights into Suicide and Mental Health Conditions)
15 pages, 4253 KiB  
Article
Whole-Genome DNA Methylation Analysis in Age-Related Hearing Loss
by Marie Valerie Roche, Denise Yan, Yan Guo, Naser Hamad, Juan I. Young, Susan H. Blanton, Feng Gong and Xue Zhong Liu
Genes 2025, 16(5), 526; https://doi.org/10.3390/genes16050526 - 29 Apr 2025
Viewed by 389
Abstract
Background: Presbycusis, also known as age-related hearing loss (ARHL), is the most frequent sensory disability affecting elderly adults worldwide. ARHL is characterized by bilateral, progressive, sensorineural hearing loss that is more pronounced at a high frequency. Conventional factors associated with ARHL include diabetes, [...] Read more.
Background: Presbycusis, also known as age-related hearing loss (ARHL), is the most frequent sensory disability affecting elderly adults worldwide. ARHL is characterized by bilateral, progressive, sensorineural hearing loss that is more pronounced at a high frequency. Conventional factors associated with ARHL include diabetes, hypertension, and a family history of hearing loss. The severity of hearing impairment varies between individuals. The defined causative molecular pathogenesis for ARHL is unknown, thus the identification of underlying pathogenic mechanisms involved in ARHL is imperative for the development of effective therapeutic approaches. Epigenetics is the study of phenotypic changes caused by the modification of gene expression rather than the alteration of a DNA sequence. While it is hypothesized that ARHL could result from undiscovered epigenetic susceptibility, there is a shortage of information on the role that epigenetic modification plays in ARHL. Here we present an investigation on the involvement of DNA methylation in ARHL. Results: Clinical, audiometric and DNA testing, and high-throughput methylation pattern screening were undertaken for ARHL patients and matched control subjects. Our results demonstrate a strong correlation between patients’ hearing measurements and methylation at CpG sites cg1140494 (ESPN) and cg27224823 (TNFRSF25). We identified 136 differentially methylated CpGs that were shared between a high and low audiometric frequency in the patient’s cohort. CpG cites in hearing loss candidate genes, KCNQ1, TMEM43, GSTM1, TCF25, and GSR, were found to be highly methylated in presbycusis patients as compared to the controls. A methylation polymerase chain reaction (PCR) assay was used to confirm methylation levels at a specific gene locus in ARHL patients and controls. Conclusions: Altered DNA methylation and its impact on gene expression has been implicated in many biological processes. By interrogating the methylation status across the genome of both hearing loss patients and those with normal hearing, our study can help to establish an association between the audiometric patterns and methylation status in ARHL, yielding new avenues for the identification of potential candidate genes for hearing loss. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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22 pages, 7640 KiB  
Article
Bilingual Sign Language Recognition: A YOLOv11-Based Model for Bangla and English Alphabets
by Nawshin Navin, Fahmid Al Farid, Raiyen Z. Rakin, Sadman S. Tanzim, Mashrur Rahman, Shakila Rahman, Jia Uddin and Hezerul Abdul Karim
J. Imaging 2025, 11(5), 134; https://doi.org/10.3390/jimaging11050134 - 27 Apr 2025
Viewed by 887
Abstract
Communication through sign language effectively helps both hearing- and speaking-impaired individuals connect. However, there are problems with the interlingual communication between Bangla Sign Language (BdSL) and English Sign Language (ASL) due to the absence of a unified system. This study aims to introduce [...] Read more.
Communication through sign language effectively helps both hearing- and speaking-impaired individuals connect. However, there are problems with the interlingual communication between Bangla Sign Language (BdSL) and English Sign Language (ASL) due to the absence of a unified system. This study aims to introduce a detection system that incorporates these two sign languages to enhance the flow of communication for those who use these forms of sign language. This study developed and tested a deep learning-based sign-language detection system that can recognize both BdSL and ASL alphabets concurrently in real time. The approach uses a YOLOv11 object detection architecture that has been trained with an open-source dataset on a set of 9556 images containing 64 different letter signs from both languages. Data preprocessing was applied to enhance the performance of the model. Evaluation criteria, including the precision, recall, mAP, and other parameter values were also computed to evaluate the model. The performance analysis of the proposed method shows a precision of 99.12% and average recall rates of 99.63% in 30 epochs. The studies show that the proposed model outperforms the current techniques in sign language recognition (SLR) and can be used in communicating assistive technologies and human–computer interaction systems. Full article
(This article belongs to the Section Computer Vision and Pattern Recognition)
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22 pages, 1055 KiB  
Perspective
Non-Invasive Brain Stimulation and Artificial Intelligence in Communication Neuroprosthetics: A Bidirectional Approach for Speech and Hearing Impairments
by Thorsten Rudroff
Brain Sci. 2025, 15(5), 449; https://doi.org/10.3390/brainsci15050449 - 25 Apr 2025
Cited by 1 | Viewed by 607
Abstract
This perspective paper introduces a novel bidirectional framework for communication neuroprosthetics that integrates non-invasive brain stimulation (NIBS) with artificial intelligence (AI) to address both speech production and auditory processing impairments. Traditional approaches typically target only one aspect of communication, while this framework supports [...] Read more.
This perspective paper introduces a novel bidirectional framework for communication neuroprosthetics that integrates non-invasive brain stimulation (NIBS) with artificial intelligence (AI) to address both speech production and auditory processing impairments. Traditional approaches typically target only one aspect of communication, while this framework supports the complete communication cycle. The integration of transcranial direct current stimulation (tDCS) and transcranial alternating current stimulation (tACS) with advanced AI algorithms enables the personalized, adaptive enhancement of neural signals for both speaking and listening functions. This paper examines current evidence for NIBS efficacy in communication disorders, explores AI innovations in neural signal processing, and discusses implementation considerations for closed-loop systems. This bidirectional approach has the potential to provide more natural, effective communication support while promoting neuroplasticity for long-term recovery. The framework presented offers a roadmap for developing accessible communication interventions that could significantly improve the quality of life for individuals with speech and hearing impairments resulting from neurological conditions. Full article
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18 pages, 2137 KiB  
Article
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13
by Silvia Radenkovic, Isabelle Adant, Matthew J. Bird, Johannes V. Swinnen, David Cassiman, Tamas Kozicz, Sarah C. Gruenert, Bart Ghesquière and Eva Morava
Cells 2025, 14(9), 638; https://doi.org/10.3390/cells14090638 - 25 Apr 2025
Viewed by 502
Abstract
Inherited metabolic disorders (IMDs) are genetic disorders that occur in as many as 1:2500 births worldwide. Nevertheless, they are quite rare individually and even more rare is the co-occurrence of two IMDs in one individual. To better understand the metabolic cross-talk between glycosylation [...] Read more.
Inherited metabolic disorders (IMDs) are genetic disorders that occur in as many as 1:2500 births worldwide. Nevertheless, they are quite rare individually and even more rare is the co-occurrence of two IMDs in one individual. To better understand the metabolic cross-talk between glycosylation changes and deficient energy metabolism, and its potential effect on outcomes, we evaluated patient fibroblasts with likely pathogenic variants in PGM1 and pathogenic variants in NDUFA13 derived from a patient who passed away at 16 years of age. The patient presented with characteristic of PGM1-CDG including bifid uvula, muscle involvement, abnormal glycosylation in blood, and elevated liver transaminases. In addition, hearing loss, seizures, elevated plasma and CSF lactate and a Leigh-like MRI brain pattern were present, which are commonly associated with Leigh syndrome. PGM1-CDG has been reported in about 70 individuals, while NDUFA13 deficiency has so far only been reported in 13 patients. As abundant energy is essential for glycosylation, and both PGM1 and NDUFA13 are linked to energy metabolism, we sought to better understand the underlying biochemical cause of the patient’s clinical presentation. To do so, we performed extensive investigations including tracer metabolomics, lipidomics and enzymatic studies on the patient’s fibroblasts. We found a profound depletion of UDP-hexoses, consistent with PGM1-CDG. Complex I enzyme activity and mitochondrial function were also impaired, corroborating complex I deficiency and Leigh syndrome. Further, lipidomics analysis showed similarities with both PGM1-CDG and OXPHOS-deficient patients. Based on our results, the patient was diagnosed with both PGM1-CDG and Leigh syndrome. In summary, we present the first case of combined CDG and Leigh syndrome, caused by (likely) pathogenic variants in PGM1 and NDUFA13, and underline the importance of considering the synergistic effects of multiple disease-causing variants in patients with complex clinical presentation, leading to the patient’s early demise. Full article
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28 pages, 7158 KiB  
Article
Accessibility of Tourist Attractions for Individuals with Disabilities as a Factor in the Development of Inclusive Tourism: Example of the Świętokrzyskie Region—Poland
by Klaudia Chwaja, Błażej Chwaja, Iwona Marczak and Zygmunt Kruczek
Sustainability 2025, 17(9), 3853; https://doi.org/10.3390/su17093853 - 24 Apr 2025
Viewed by 682
Abstract
The number of individuals with disabilities around the world and in Poland is constantly increasing. Social inclusion, anti-discrimination, and social integration are among the Sustainable Development Goals, which include inclusive tourism. Fostering inclusion in the tourism industry contributes to improving quality of life [...] Read more.
The number of individuals with disabilities around the world and in Poland is constantly increasing. Social inclusion, anti-discrimination, and social integration are among the Sustainable Development Goals, which include inclusive tourism. Fostering inclusion in the tourism industry contributes to improving quality of life in marginalised communities, community involvement in tourism development planning, and ethical activities related to the production and consumption of tourism services. Making attractions accessible to people with disabilities also contributes to enriching the tourist offerings of a region. The aim of this study is to assess the accessibility of tourist attractions in the Świętokrzyskie region, located in central Poland. The natural, cultural, and historical attractions there create potential for the development of various forms of tourism. The accessibility of 20 major tourist attractions for people with mobility, sight, and hearing impairments was examined. The results indicate a varying level of adaptation of facilities to the needs of the surveyed groups. Recreation and entertainment facilities are the best adapted, while sacred and historical facilities are the least adjusted. The majority of adaptations were directed towards individuals with mobility impairments, with blind and partially sighted people as well as deaf and partially hearing people often being overlooked. The identified barriers to adaptation included the excessive cost of adaptation and the limitations of the historic nature of the building. The inadequate preparation of attraction staff to support disabled individuals was also highlighted, as well as the importance of modern technology in creating accessibility and the need to promote inclusion among attraction managers and in regional policy. The article also includes an analysis of the local government’s measures aimed at social inclusion. Full article
(This article belongs to the Special Issue Inclusive Tourism and Its Place in Sustainable Development Concepts)
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12 pages, 1008 KiB  
Article
Long-Term Follow-Up of Vestibular Function in Cochlear-Implanted Teenagers and Young Adults
by Niki Karpeta, Eva Karltorp, Luca Verrecchia and Maoli Duan
Audiol. Res. 2025, 15(2), 42; https://doi.org/10.3390/audiolres15020042 - 13 Apr 2025
Viewed by 379
Abstract
Background: Vestibular function implements head position regulation and body spatial navigation. It matures during childhood and adolescence and integrates with the completion of an individual’s motor development. Nevertheless, vestibular impairment is associated with profound paediatric hearing loss and has a negative impact on [...] Read more.
Background: Vestibular function implements head position regulation and body spatial navigation. It matures during childhood and adolescence and integrates with the completion of an individual’s motor development. Nevertheless, vestibular impairment is associated with profound paediatric hearing loss and has a negative impact on the child’s motor proficiency. Cochlear implantation (CI) is the treatment of choice for severe hearing loss, where conservative treatment plans are not appropriate or fail. The Teenager and Young Adults Cochlear Implant (TAYACI) study investigates the long-term outcomes of early implantation with respect to the hearing, speech, psychological, and balance development among CI users. Methods: This study focuses on the vestibular function and the appropriate methods for vestibular assessment. The results of two established vestibular test methods are explored: the video head impulse test (vHIT) and cervical/ocular vestibular-evoked myogenic potentials (cVEMP, oVEMP) with air and bone conduction vibration stimulation. The results of vHIT, cVEMP, and oVEMP, per implanted ear and the relation to the aetiology of hearing loss are reported. An additional dynamic visual acuity (DVA) test was included to assess clinical oscillopsia. Results: Overall abnormal lateral canal testing was detected in 35/76 (46.1%) of the implanted ears. Bone-conducted cVEMP (BC cVEMP) was pathological in 33/76 (43.3%) and BC oVEMP in 42/76 (55.3%). Lateral canal impairment was associated with the background diagnosis of the hearing loss. Oscillopsia was related to bilateral canal impairment (sensitivity 73% specificity 100%). Conclusions: Lateral canal testing together with BC VEMPs were the most reproducible modules for vestibular testing The above tests were related to each other and complemented the overall vestibular assessment. DVA is a helpful tool to screen dynamic oscillopsia in patients with bilateral vestibular impairment. Full article
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13 pages, 529 KiB  
Article
Hearing Loss and Social Isolation in Community-Dwelling Older Adults: The Role of Neighborhood Disorder and Perceived Social Cohesion
by Sol Baik and Kyeongmo Kim
Int. J. Environ. Res. Public Health 2025, 22(4), 583; https://doi.org/10.3390/ijerph22040583 - 8 Apr 2025
Viewed by 502
Abstract
Hearing loss is one of the most common sensory impairments acquired with aging. This condition causes communication difficulties, leading to social isolation, dependence on others, and a reduced quality of life. However, less is known about the influence of environmental factors on the [...] Read more.
Hearing loss is one of the most common sensory impairments acquired with aging. This condition causes communication difficulties, leading to social isolation, dependence on others, and a reduced quality of life. However, less is known about the influence of environmental factors on the experiences of older adults with hearing loss. This study utilized three waves of the National Health and Aging Trends Study (2011–2013), analyzing data from 3950 community-dwelling older adults. Survey-weighted random intercept models were used to investigate whether hearing loss is associated with social isolation over the three waves and whether this relationship is moderated by neighborhood disorder and perceived neighborhood social cohesion. The study found that older adults with hearing loss were significantly less socially isolated, while the perceived social cohesion significantly moderated the effect of hearing loss on social isolation. Given that hearing function deteriorates with age and hearing aids or other devices are rarely covered by third-party payers, except for some state Medicaid plans or rehabilitation services for veterans, addressing modifiable neighborhood factors may be the most effective way to help individuals remain socially engaged and avoid isolation. Full article
(This article belongs to the Special Issue Hearing Health in Vulnerable Groups)
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16 pages, 291 KiB  
Review
Usher Syndrome: New Insights into Classification, Genotype–Phenotype Correlation, and Management
by Fabiana D’Esposito, Giuseppe Gagliano, Caterina Gagliano, Antonino Maniaci, Alessandro Avitabile, Rosa Giglio, Michele Reibaldi, Maria Francesca Cordeiro and Marco Zeppieri
Genes 2025, 16(3), 332; https://doi.org/10.3390/genes16030332 - 12 Mar 2025
Viewed by 1136
Abstract
Background: Usher syndrome (USH), the most common cause of combined deaf-blindness, is a genetically and phenotypically heterogeneous disorder characterized by congenital hearing impairment and progressive vision loss due to rod-cone dystrophy. Although the original classification in three subtypes (USH I, USH II, and [...] Read more.
Background: Usher syndrome (USH), the most common cause of combined deaf-blindness, is a genetically and phenotypically heterogeneous disorder characterized by congenital hearing impairment and progressive vision loss due to rod-cone dystrophy. Although the original classification in three subtypes (USH I, USH II, and USH III) is still valid, recent findings have changed and widened perspectives in its classification, genotype–phenotype correlations, and management strategies: Objective: This study aims to provide new insights into the classification of Usher syndrome, explore the genotype-phenotype correlations, and review current and emerging management strategies. Methods: A comprehensive literature review has been conducted, incorporating data from clinical studies, genetic databases, and patient registries. Results: Recent studies have led to the identification of several novel pathogenic variants in the USH genes, leading to refined subclassifications of Usher syndrome. Interactions between different genes being part of the network of this ciliopathy have been investigated and new mechanisms unveiled. Significant correlations were found between certain genotypes and the presentation of both auditory and visual phenotypes. For instance, pathogenic variants in the MYO7A gene (USH1B) were generally associated with more severe hearing impairment and earlier onset of retinal dystrophy, if compared to other USH genes-related forms. Other genes, such as USH1G, traditionally considered as causing a specific subtype, can display phenotypic heterogeneity in some patients. Conclusions: This review provides insights into a better understanding of Usher syndrome that considers recent findings regarding its genetic causes and clinical features. Precise genotype–phenotype correlations can lead to better genetic counselling, more precise characterization of the natural history of the condition, and a personalized and effective management approach. Recent progress has been made in research into gene-specific therapies that appear promising for improving the quality of life for individuals affected by Usher syndrome. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
25 pages, 2508 KiB  
Article
OVSLT: Advancing Sign Language Translation with Open Vocabulary
by Ai Wang, Junhui Li, Wuyang Luan and Lei Pan
Electronics 2025, 14(5), 1044; https://doi.org/10.3390/electronics14051044 - 6 Mar 2025
Viewed by 745
Abstract
Hearing impairments affect approximately 1.5 billion individuals worldwide, highlighting the critical need for effective communication tools between deaf and hearing populations. Traditional sign language translation (SLT) models predominantly rely on gloss-based methods, which convert visual sign language inputs into intermediate gloss sequences before [...] Read more.
Hearing impairments affect approximately 1.5 billion individuals worldwide, highlighting the critical need for effective communication tools between deaf and hearing populations. Traditional sign language translation (SLT) models predominantly rely on gloss-based methods, which convert visual sign language inputs into intermediate gloss sequences before generating textual translations. However, these methods are constrained by their reliance on extensive annotated data, susceptibility to error propagation, and inadequate handling of low-frequency or unseen sign language vocabulary, thus limiting their scalability and practical application. Drawing upon multimodal translation theory, this study proposes the open-vocabulary sign language translation (OVSLT) method, designed to overcome these challenges by integrating open-vocabulary principles. OVSLT introduces two pivotal modules: Enhanced Caption Generation and Description (CGD), and Grid Feature Grouping with Advanced Alignment Techniques. The Enhanced CGD module employs a GPT model enhanced with a Negative Retriever and Semantic Retrieval-Augmented Features (SRAF) to produce semantically rich textual descriptions of sign gestures. In parallel, the Grid Feature Grouping module applies Grid Feature Grouping, contrastive learning, feature-discriminative contrastive loss, and balanced region loss scaling to refine visual feature representations, ensuring robust alignment with textual descriptions. We evaluated OVSLT on the PHOENIX-14T and CSLDaily datasets. The results demonstrated a ROUGE score of 29.6% on the PHOENIX-14T dataset and 30.72% on the CSLDaily dataset, significantly outperforming existing models. These findings underscore the versatility and effectiveness of OVSLT, showcasing the potential of open-vocabulary approaches to surpass the limitations of traditional SLT systems and contribute to the evolving field of multimodal translation. Full article
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20 pages, 2690 KiB  
Article
Creating a Parallel Corpus for the Kazakh Sign Language and Learning
by Aigerim Yerimbetova, Bakzhan Sakenov, Madina Sambetbayeva, Elmira Daiyrbayeva, Ulmeken Berzhanova and Mohamed Othman
Appl. Sci. 2025, 15(5), 2808; https://doi.org/10.3390/app15052808 - 5 Mar 2025
Viewed by 874
Abstract
Kazakh Sign Language (KSL) is a crucial communication tool for individuals with hearing and speech impairments. Deep learning, particularly Transformer models, offers a promising approach to improving accessibility in education and communication. This study analyzes the syntactic structure of KSL, identifying its unique [...] Read more.
Kazakh Sign Language (KSL) is a crucial communication tool for individuals with hearing and speech impairments. Deep learning, particularly Transformer models, offers a promising approach to improving accessibility in education and communication. This study analyzes the syntactic structure of KSL, identifying its unique grammatical features and deviations from spoken Kazakh. A custom parser was developed to convert Kazakh text into KSL glosses, enabling the creation of a large-scale parallel corpus. Using this resource, a Transformer-based machine translation model was trained, achieving high translation accuracy and demonstrating the feasibility of this approach for enhancing communication accessibility. The research highlights key challenges in sign language processing, such as the limited availability of annotated data. Future work directions include the integration of video data and the adoption of more comprehensive evaluation metrics. This paper presents a methodology for constructing a parallel corpus through gloss annotations, contributing to advancements in sign language translation technology. Full article
(This article belongs to the Section Computing and Artificial Intelligence)
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