Search Results (33)

Background and Objectives: Hereditary hearing loss is the most common auditory disability among various disabilities. Consanguineous populations have been found to have autosomal recessive disorders twice as often as in the general population. This study aimed to highlight the phenotypic and genetic complexity of non-syndromic hearing loss (NSHL) in South Indian consanguineous families. Materials and Methods: Whole-exome sequencing (WES) was performed on individuals with NSHL who were negative for common deafness-causing genes (GJB2, GJB6, SLC26A4, and MTRNR1). The candidate variants identified were correlated with ROH regions identified using the Automap tool. Sanger sequencing was performed for validation, followed by segregation analysis for the available family members. The effects of the candidate variants were analyzed using an in silico structural approach and the ACMG guidelines. Results: WES identified variants, including a stop-gain, an indel, and a missense mutation, in the genes SIX1, MYO7A, MYO3A, and MYO15A. Three variants were classified as likely pathogenic, one variant as a variant of uncertain significance (VUS), and one variant as likely benign. Homozygous variants in MYO15A and MYO7A were identified within ROH regions, indicating autosomal recessive inheritance. Additionally, two heterozygous variants in the SIX1 and MYO3A genes were identified. This study indicates a high degree of genotypic and phenotypic heterogeneity of hearing loss among affected individuals. Conclusions: This integrated approach, which combines homozygosity mapping with WES, could be effective for diagnosing NSHL in affected individuals. Further genetic screening and characterization of NSHL in consanguineous families is also warranted. Genetic testing in high-risk populations could be a valuable method for diagnosing genetic hearing loss in children. Full article

Bone conduction hearing implant systems (BCHIs) are established treatments for patients with conductive or mixed hearing loss or single-sided deafness when conventional hearing aids are unsuitable. This study evaluated the cost-effectiveness of the active transcutaneous system Sentio versus a similar system, i.e., Osia in an Australian setting. Scenario analyses also compared Sentio to other systems, i.e., Ponto and Baha Attract. A Markov cohort model was adapted from a previously published source to reflect Australian practice, incorporating device acquisition, surgery, maintenance, battery replacement and adverse event management over a 15-year horizon from a healthcare perspective. Effectiveness inputs were derived from published evidence using a naïve indirect comparison. Extensive sensitivity analyses and external validation tested robustness. In the base case, Sentio was associated with lower costs and a small modelled incremental quality-adjusted life years (QALYs) gain versus Osia. Scenario analyses confirmed cost-effectiveness relative to Ponto and Baha Attract, with outcomes below the Australian willingness-to-pay threshold. Health state utility, device price and reimplantation assumptions were the most influential drivers, yet Sentio remained cost-effective in over 95% of simulations. These findings support Sentio as a clinically and economically efficient BCHI in Australia and highlight the need for direct utility and long-term durability data. Full article

Background and Clinical Significance: Prader–Willi syndrome (PWS) is an imprinting disorder not typically associated with severe congenital sensorineural hearing loss (SNHL). When profound SNHL is present in an infant with a known syndrome, an independent monogenic etiology should be considered. We report the first molecularly confirmed case of PWS co-occurring with biallelic pathogenic TMC1 variants causing congenital SNHL, outlining diagnostic challenges, cochlear implant (CI) outcomes, and implications for blended phenotypes. Case Presentation: A male infant with PWS due to a paternal 15q11.2–q13 deletion failed newborn hearing screening. Diagnostic auditory brainstem response and auditory steady-state response confirmed bilateral severe-to-profound SNHL. Temporal bone CT/MRI were normal. Comprehensive genetic testing identified compound heterozygous TMC1 variants consistent with autosomal recessive DFNB7/11 hearing loss, plus two variants of uncertain significance in SERPINB6 and EPS8L2. Sequential bilateral cochlear implantation was performed (left ear at 14 months, right at 20 months), followed by auditory–verbal therapy. Over four years, the child showed steady improvements in hearing and early-speech development. Conclusions: Early genomic evaluation is essential when clinical features appear atypical for a known syndrome. Identifying TMC1-related deafness enabled timely cochlear implantation and measurable gains. This case highlights that severe congenital SNHL in a syndromic infant may reflect a distinct monogenic disorder rather than phenotypic expansion of the primary syndrome, emphasizing the importance of recognizing blended phenotypes to guide precision-care strategies in rare disorders. Full article

This study reports findings from a nationwide replication and the second randomized controlled trial (RCT) of Strategic and Interactive Writing Instruction (SIWI), a linguistically responsive framework for teaching writing to deaf students. A total of 50 teachers and their 294 students in grades 3–6 were randomly assigned to either SIWI or business-as-usual (BAU) instruction. Writing outcomes were assessed with trait-based rubrics and the Structured Analysis of Written Language (SAWL) in two genres (recount and information report), along with the Woodcock–Johnson IV broad written language composite and genre-specific motivation surveys administered at the beginning and end of the school year. Students receiving SIWI outperformed peers in the BAU group on writing traits across both genres, with effect sizes ranging from moderately large (d = 0.70) for informational reports to very large (d = 1.11) for recounts. On the SAWL, SIWI students demonstrated significantly greater gains in grammatical clarity on recount writing, as measured by the word efficiency ratio, with a moderate effect size (d = 0.64), although this effect was not observed for information reports. Students in the treatment group also reported significantly higher motivation for both genres. Unlike the prior RCT, no statistically significant differences emerged on the broad written language measure (d = 0.27). This may reflect spurious findings in the previous study or limitations in this study caused by the COVID-19 pandemic. Nonetheless, the effect size observed suggests some practical importance that warrants further investigation. Findings provide robust evidence that SIWI positively impacts deaf elementary students’ writing development and motivation, particularly for recount genres, while underscoring the importance of replication for understanding the generalizability of intervention effects. Full article

The growing Deaf and Hard-of-Hearing community faces communication challenges due to a global shortage of certified sign language interpreters. Therefore, developing efficient and secure sign language machine translation (SLMT) systems is essential. Current work addresses the accuracy of the sign language translation task. However, there is a need for an SLMT system that encompasses privacy, efficiency, translation accuracy, and Machine Learning development operations. This paper addresses this void by proposing a novel consent-aware privacy-preserving end-to-end edge, cloud, and blockchain integrated computing system. We evaluate the system by comparing the mostly used Encoder–Decoder Transformer and a lightweight Adaptive Transformer (ADAT), using two datasets: the most comprehensive sign language dataset RWTH-PHOENIX-Weather-2014T (PHOENIX14T), and MedASL, our newly developed medical-domain dataset. A comparative analysis of translation quality on PHOENIX14T shows that ADAT improves BLEU-4 by 0.02 absolute points and ROUGE-L by 0.11. On MedASL, ADAT gains 0.01 in BLEU-4 and 0.02 in ROUGE-L. For runtime efficiency on MedASL, ADAT reduces training time by 50% and lowers both edge–cloud and end-to-end system communication times by 2%. Full article

Deaf and hearing-impaired individuals rely on sign language, a visual communication system using hand shapes, facial expressions, and body gestures. Sign languages vary by region. For example, Arabic Sign Language (ArSL) is notably different from American Sign Language (ASL). This project focuses on creating an Arabic Sign Language Recognition (ArSLR) System tailored for healthcare, aiming to bridge communication gaps resulting from a lack of sign-proficient professionals and limited region-specific technological solutions. Our research addresses limitations in sign language recognition systems by introducing a novel framework centered on ResNet50ViT, a hybrid architecture that synergistically combines ResNet50’s robust local feature extraction with the global contextual modeling of Vision Transformers (ViT). We also explored a tailored Vision Transformer variant (SignViT) for Arabic Sign Language as a comparative model. Our main contribution is the ResNet50ViT model, which significantly outperforms existing approaches, specifically targeting the challenges of capturing sequential hand movements, which traditional CNN-based methods struggle with. We utilized an extensive dataset incorporating both static (36 signs) and dynamic (92 signs) medical signs. Through targeted preprocessing techniques and optimization strategies, we achieved significant performance improvements over conventional approaches. In our experiments, the proposed ResNet50-ViT achieved a remarkable 99.86% accuracy on the ArSL dataset, setting a new state-of-the-art, demonstrating the effectiveness of integrating ResNet50’s hierarchical local feature extraction with Vision Transformer’s global contextual modeling. For comparison, a fine-tuned Vision Transformer (SignViT) attained 98.03% accuracy, confirming the strength of transformer-based approaches but underscoring the clear performance gain enabled by our hybrid architecture. We expect that RAFID will help deaf patients communicate better with healthcare providers without needing human interpreters. Full article

STEM ideologies provoke environmental destruction from which deaf, disabled, and Indigenous people are uniquely targeted. Our analysis counteracts harms caused by governmental, industrial, and educational agents who weaponize STEM ideologies against downstream people, animals, plants, environments, and biogeochemical entities. We explore two research questions via a theoretical framework about biocultural deaf gains and deaf/Indigenous languacultures to center the arts in STEAM. As a result, we synthesized a conceptual framework called Deaf and Indigenous Curricula and Eco-pedagogies (DICE), which are multimodal, multilingual approaches to STEAM education emphasizing place-based ecology and the arts, including knowledge emanating from Indigenous Deaf Cultures, Indigenous sign languages, and epistemologists who are deaf, disabled, women, and Indigenous (singly or in combination). DICE is designed to reinvigorate communities and ecologies at risk of destruction from colonialism and runnamok capitalism. Within and across Indigenous and Deaf lifeworlds, our model explores: collaboration, mutualism, and symbiosis. These are situated in examples drawn from the research, abductive reasoning, our life histories, and the creative works of Deaf Indigenous scientists and artists. In sum, alongside uprising Indigenous voices, deaf hands shall rise in solidarity to aid Earth’s defense. Full article

Background: Single-sided deafness (SSD) and asymmetric hearing loss (AHL) impair spatial hearing and speech perception, often reducing quality of life. Cochlear implants (CIs) and bone conduction implants (BCIs) are rehabilitation options used in SSD and AHL to improve auditory perception and support functional integration in daily life. Objective: We aimed to evaluate hearing outcomes after auditory implantation in SSD and AHL patients, focusing on localization accuracy, speech-in-noise understanding, tinnitus relief, and perceived benefit. Methods: In this longitudinal observational study, 37 patients (adults and children) received a CI or a BCI according to clinical indications. Outcomes included localization and spatial speech-in-noise assessment, tinnitus ratings, and SSQ12 scores. Statistical analyses used parametric and non-parametric tests (p < 0.05). Results: In adult CI users, localization error significantly decreased from 81.9° ± 15.8° to 43.7° ± 13.5° (p < 0.001). In children, regardless of the implant type (CI or BCI), localization error improved from 74.3° to 44.8°, indicating a consistent spatial benefit. In adult BCI users, localization error decreased from 74.6° to 69.2°, but the improvement did not reach statistical significance. Tinnitus severity, measured on a 10-point VAS scale, decreased significantly in CI users (mean reduction: 2.8 ± 2.0, p < 0.001), while changes in BCI users were small and of limited clinical relevance. SSQ12B/C scores improved in all adult groups, with the largest gains observed in spatial hearing for CI users (2.1 ± 1.2) and in speech understanding for BCI users (1.6 ± 0.9); children reported high benefits across all domains. Head shadow yielded the most consistent benefit across all groups (up to 4.9 dB in adult CI users, 3.8 dB in adult BCI users, and 4.6 dB in children). Although binaural effects were smaller in BCI users, positive gains were observed, especially in pediatric cases. Correlation analysis showed that daily device use positively predicted SSQ12 improvement (r = 0.57) and tinnitus relief (r = 0.42), while longer deafness duration was associated with poorer localization outcomes (r = –0.48). Conclusions: CIs and BCIs provide measurable benefits in SSD and AHL rehabilitation. Outcomes vary with age, device, and deafness duration, underscoring the need for early intervention and consistent auditory input. Full article

Academically gifted individuals who are Deaf or hard of hearing (DHH) represent a unique intersection of identities that can significantly affect various aspects of their lives. This qualitative phenomenological study explored the lived experiences of academically gifted DHH individuals to gain insights into their unique challenges and strengths. Semi-structured interviews were conducted with 10 participants (ages 21–85) who self-identified as both academically gifted and DHH. Interpretative phenomenological analysis of the participants’ experiences revealed themes such as resilience, self-acceptance, family support, educational accommodations, and social challenges. The participants demonstrated remarkable adaptability in navigating both academic and social environments, often developing innovative coping strategies. These findings highlight the need for tailored educational approaches and support systems that recognize and nurture the potential of gifted DHH students. Full article

Communication barriers pose significant challenges for the Deaf and Hard-of-Hearing (DHH) community, limiting their access to essential services, social interactions, and professional opportunities. To bridge this gap, assistive technologies leveraging artificial intelligence (AI) and deep learning have gained prominence. This study presents a real-time American Sign Language (ASL) interpretation system that integrates deep learning with keypoint tracking to enhance accessibility and foster inclusivity. By combining the YOLOv11 model for gesture recognition with MediaPipe for precise hand tracking, the system achieves high accuracy in identifying ASL alphabet letters in real time. The proposed approach addresses challenges such as gesture ambiguity, environmental variations, and computational efficiency. Additionally, this system enables users to spell out names and locations, further improving its practical applications. Experimental results demonstrate that the model attains a mean Average Precision (mAP@0.5) of 98.2%, with an inference speed optimized for real-world deployment. This research underscores the critical role of AI-driven assistive technologies in empowering the DHH community by enabling seamless communication and interaction. Full article

Italian Sign Language (LIS) is the primary form of communication for many members of the Italian deaf community. Despite being recognized as a fully fledged language with its own grammar and syntax, LIS still faces challenges in gaining widespread recognition and integration into public services, education, and media. In recent years, advancements in technology, including artificial intelligence and machine learning, have opened up new opportunities to bridge communication gaps between the deaf and hearing communities. This paper presents a novel educational tool designed to teach LIS through SIGNIFY, a Machine Learning-based interactive serious game. The game incorporates a tutorial section, guiding users to learn the sign alphabet, and a classic hangman game that reinforces learning through practice. The developed system employs advanced hand gesture recognition techniques for learning and perfecting sign language gestures. The proposed solution detects and overlays 21 hand landmarks and a bounding box on live camera feeds, making use of an open-source framework to provide real-time visual feedback. Moreover, the study compares the effectiveness of two camera systems: the Azure Kinect, which provides RGB-D information, and a standard RGB laptop camera. Results highlight both systems’ feasibility and educational potential, showcasing their respective advantages and limitations. Evaluations with primary school children demonstrate the tool’s ability to make sign language education more accessible and engaging. This article emphasizes the work’s contribution to inclusive education, highlighting the integration of technology to enhance learning experiences for deaf and hard-of-hearing individuals. Full article

During the COVID-19 pandemic, many DeafBlind children were left without access to educational services when schools went remote. This article presents findings from a project that brought DeafBlind adults into the homes of DeafBlind children during a historically unprecedented time, when a new language was emerging among DeafBlind people who call themselves “Protactile”. In analyzing interactions between the DeafBlind adults and children, we have gained new insights into how novel communication channels are forged intersubjectively. We focus our analysis on Jelica, a DeafBlind member of the research team and experienced Protactile educator, and her interactions with two DeafBlind children. Grounding her extensive field notes in an anthropological theory on intersubjectivity, her insights show how they gradually became attuned to each other and their environment, thereby laying the foundation for intention attribution and joint attention. Jelica does this, in part, via frequent use of “Protactile taps”, which have attention-modulating and demonstrative functions among adults. Jelica’s taps perform a “meta-channel” function to direct the child to use particular parts of their bodies for communication and exploration. This study shows how Jelica establishes an operable environment, within which the vocabulary and grammar she exposes them to will take on situated meaning. This research builds on previous work on language emergence by showing that both children and adults contribute to language emergence as they adjust to one another in the unfolding of interaction. Finally, this research calls attention to the need for DeafBlind adults to have institutional authority to shape communication practices for DeafBlind children. Full article

The aim of this study was to evaluate the comparative clinical effectiveness and cost-utility of the active transcutaneous Osia^® System versus the passive transcutaneous Baha^® Attract System for patients with conductive or mixed hearing loss or single-sided deafness in an Australian healthcare setting. In the absence of direct comparative evidence, an indirect treatment comparison (ITC) of the clinical effectiveness and utility gains was needed. The ITC was informed by three studies identified through a systematic literature review. A Markov model was developed to evaluate the cost-utility of the Osia System. The literature review identified three studies suitable to inform an ITC: Mylanus et al. 2020 and Briggs et al. 2022 (Osia System) and den Besten et al. 2019 (Baha Attract System). The Osia System was found to be clinically superior to the Baha Attract System, across objective audiological outcomes resulting in a clinically meaningful utility benefit of 0.03 measured by the Health Utility Index with at least equivalent safety. In conclusion, the Osia System is more effective than the Baha Attract System, providing better hearing and health-related quality of life outcomes. In an Australian healthcare setting, the Osia System is cost-effective as demonstrated in a cost-utility analysis versus the Baha Attract System. Full article

Pre-mRNA splicing is an essential process orchestrated by the spliceosome, a dynamic complex assembled stepwise on pre-mRNA. We have previously identified that USH1G protein SANS regulates pre-mRNA splicing by mediating the intranuclear transfer of the spliceosomal U4/U6.U5 tri-snRNP complex. During this process, SANS interacts with the U4/U6 and U5 snRNP-specific proteins PRPF31 and PRPF6 and regulates splicing, which is disturbed by variants of USH1G/SANS causative for human Usher syndrome (USH), the most common form of hereditary deaf–blindness. Here, we aim to gain further insights into the molecular interaction of the splicing molecules PRPF31 and PRPF6 to the CENTn domain of SANS using fluorescence resonance energy transfer assays in cells and in silico deep learning-based protein structure predictions. This demonstrates that SANS directly binds via two distinct conserved regions of its CENTn to the two PRPFs. In addition, we provide evidence that these interactions occur sequentially and a conformational change of an intrinsically disordered region to a short α-helix of SANS CENTn2 is triggered by the binding of PRPF6. Furthermore, we find that pathogenic variants of USH1G/SANS perturb the binding of SANS to both PRPFs, implying a significance for the USH1G pathophysiology. Full article

Treating individuals with single-sided deafness (SSD) with a cochlear implant (CI) offers significant benefits for speech perception in complex spatial listening environments. After implantation, training without involvement of the normal-hearing ear is essential. Therefore, the AudioLink streaming device (MED-EL GmbH, Austria) can be used to connect the externally worn audio processor to media devices; thus, the auditory stimuli are directly streamed to the implanted ear. The aim was to test whether children with SSD, aged 5–12 years, accept this training method and whether auditory training, streamed directly via AudioLink using the Tiptoi device (Ravensburger GmbH., Ravensburg, Germany), improves speech recognition. A total of 12 children with SSD and implanted with a CI received Tiptoi training via AudioLink and were asked to practice daily for 10 min over a period of one month. All participants completed the training. The measurements employed to assess improvement included speech audiometry, speech, spatial, and quality of hearing scale for parents (SSQ P), and specially designed tasks crafted for this study. Daily training of 9.93 min was reported. The word recognition score (WRS) at 65 dB and 80 dB in aided condition significantly improved and the WRS streamed via AudioLink was significantly better after training. The speech, spatial, and qualities of hearing scale for parents (SSQ P questionnaire) showed significant improvement in the dimension of quality of hearing and overall gain. The outcomes of the Tiptoi tasks resulted in a significant benefit in both categories of the “recognition of sounds” and “understanding of sentences”. The results are very encouraging and do not only show the positive uptake of daily training at home but also how this resulted in a significant improvement in subjective and objective measures for this rather short training period of one month only. Full article