Search Results (248)

Hearing loss is often caused by genetic and environmental factors, with inherited mutations responsible for 50–60% of cases. The GJB2 gene, encoding connexin 26, is a major contributor to nonsyndromic sensorineural hearing loss (NSHL) due to its role in cellular communication critical for auditory function. In Taiwan, common deafness-associated genes include GJB2, SLC26A4, OTOF, MYO15A, and MTRNR1, which were similar to those found in other populations. The most common pathogenic genes is GJB2 mutations and the hearing level in children with GJB2 p.V37I/p.V37I or p.V37I/c.235delC was estimated to deteriorate at approximately 1 decibel hearing level (dB HL)/year. We found another common mutation in Taiwan Biobank, GJB2 p.I203T, which were identified in our data and individuals carrying this mutation experienced more severe hearing loss, suggesting a synergistic effect of these mutations on auditory impairment. We suggest GJB2 whole genetic screening is recommended for clinical management and prevention strategies in Taiwan. This study used data from the Taiwan Biobank to analyze allele frequencies of GJB2 gene variants. Predictive software (PolyPhen-2 version 2.2, SIFT for missense variants 6.2.1, MutationTaster Ensembl 112 and Alphamissense CC BY-NC-SA 4.0) assessed the pathogenicity of specific mutations. Additionally, 82 unrelated NSHL patients were screened for mutations in these genes using PCR and DNA sequencing. The study explored the correlation between genetic mutations and the severity of hearing loss in patients. Several common GJB2 mutation sites were identified from the Taiwan Biobank, including GJB2 p.V37I (7.7%), GJB2 p.I203T (6%), GJB2 p.V27I (31%), and GJB2 p.E114G (22%). Bioinformatics analysis classified GJB2 p.I203T as pathogenic, while GJB2 p.V27I and GJB2 p.E114G were considered polymorphisms. Patients with GJB2 p.I203T mutation experienced more severe hearing loss, emphasizing the potential interaction between the gene in auditory impairment. The mutation patterns of GJB2 in the Taiwanese population are similar to other East Asian regions. Although GJB2 mutations represent the predominant genetic cause of hereditary hearing loss, the corresponding mutant proteins exhibit detectable aggregation, particularly at cell–cell junctions, suggesting at least partial trafficking to the plasma membrane. Genetic screening for these mutations—especially GJB2 p.I203T (6%), GJB2 p.V27I (31%), and GJB2 p.E114G (22%)—is essential for the effective diagnosis and management of non-syndromic hearing loss (NSHL) in Taiwan. We found GJB2 p.I203T which were identified in our data and individuals carrying this mutation experienced more severe hearing loss, suggesting a synergistic effect of these mutations on auditory impairment. We suggest whole GJB2 gene sequencing in genetic screening is recommended for clinical management and prevention strategies in Taiwan. These findings have significant clinical and public health implications for the development of preventive and therapeutic strategies. Full article

Virtual Reality (VR) is a useful educational tool in healthcare, allowing students to practise and improve practical skills. In speech therapy (ST), the need to revise academic curricula to adapt them to university contexts and integrate them into advanced clinical practices has highlighted the need to analyse the use of VR in this sector. The objective of this scoping review was to investigate whether research has considered using VR to support ST students’ training and highlight potential gaps in the literature. The study followed the JBI methodology for scoping reviews and was reported according to PRISMA-ScR guidelines. A protocol to conduct the current review was developed and registered on the Open Science Framework. The articles considered were retrieved from databases specialising in healthcare, computer science, and education, and were enhanced by results found with the help of AI-based tools. No constraints were applied and all study types were considered. Fourteen studies were included in the review and analysed under four core subjects: VR technology, ST context, training purposes, and main outcomes and assessment methods. The VR types identified in the studies were grouped into four categories, i.e., non-immersive VR (6/14, 42.9%), immersive VR (5/14, 35.7%), non-specified VR type (2/14, 14.3%), and semi-immersive VR (1/14, 7.1%). Most studies (5/14, 35.7%) focused on clinical skills acquisition, others addressed communication and interpersonal collaborative skills (3/14, 21.4%), while the remaining focused on person-centred care and awareness, clinical interviewing or reasoning skills, and performance knowledge (2/14 each, 14.3%). VR is still in its early stages in ST education. Some recent studies suggest VR supports students’ communication, interdisciplinary, and clinical skills. Although still limited in the context of ST education, the increasing affordability and ease of development of VR, along with its growing use in other healthcare fields, suggest that its underuse might be due to institutional barriers and lack of standardised frameworks. Overall, the findings suggest that VR offers promising support for experiential and skills-based learning. Full article

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder that progressively impairs motor and communication abilities. Globally, the prevalence of ALS was estimated at approximately 222,800 cases in 2015 and is projected to increase by nearly 70% to 376,700 cases by 2040, primarily driven by demographic shifts in aging populations, and the lifetime risk of developing ALS is 1 in 350–420. Despite international advancements in assistive technologies, a recent national survey in Saudi Arabia revealed that 100% of ALS care providers lack access to eye-tracking communication tools, and 92% reported communication aids as inconsistently available. While assistive technologies such as speech-generating devices and gaze-based control systems have made strides in recent decades, they primarily support English speakers, leaving Arabic-speaking ALS patients underserved. This paper presents SOUTY, a cost-effective, mobile-based application that empowers ALS patients to communicate using gaze-controlled interfaces combined with a text-to-speech (TTS) feature in Arabic language, which is one of the five most widely spoken languages in the world. SOUTY (i.e., “my voice”) utilizes a personalized, pre-recorded voice bank of the ALS patient and integrated eye-tracking technology to support the formation and vocalization of custom phrases in Arabic. This study describes the full development life cycle of SOUTY from conceptualization and requirements gathering to system architecture, implementation, evaluation, and refinement. Validation included expert interviews with Human–Computer Interaction (HCI) expertise and speech pathology specialty, as well as a public survey assessing awareness and technological readiness. The results support SOUTY as a culturally and linguistically relevant innovation that enhances autonomy and quality of life for Arabic-speaking ALS patients. This approach may serve as a replicable model for developing inclusive Augmentative and Alternative Communication (AAC) tools in other underrepresented languages. The system achieved 100% task completion during internal walkthroughs, with mean phrase selection times under 5 s and audio playback latency below 0.3 s. Full article

Background: Generative AI (GenAI) models like ChatGPT have gained significant attention in recent years for their potential applications in healthcare. This study evaluates the concordance of responses generated by ChatGPT (versions 3.5 and 4.0) with the key action statements from the American Academy of Otolaryngology–Head and Neck Surgery (AAO-HNS) clinical practice guidelines (CPGs) for Ménière’s disease translated into Chinese. Methods: Seventeen questions derived from the KAS were translated into Chinese and posed to ChatGPT versions 3.5 and 4.0. Responses were categorized as correct, partially correct, incorrect, or non-answers. Concordance with the guidelines was evaluated, and Fisher’s exact test assessed statistical differences, with significance set at p < 0.05. Comparative analysis between ChatGPT 3.5 and 4.0 was performed. Results: ChatGPT 3.5 demonstrated an 82.4% correctness rate (14 correct, 2 partially correct, 1 non-answer), while ChatGPT 4.0 achieved 94.1% (16 correct, 1 partially correct). Overall, 97.1% of responses were correct or partially correct. ChatGPT 4.0 offered enhanced citation accuracy and text clarity but occasionally included redundant details. No significant difference in correctness rates was observed between the models (p = 0.6012). Conclusions: Both ChatGPT models showed high concordance with the AAO-HNS CPG for MD, with ChatGPT 4.0 exhibiting superior text clarity and citation accuracy. These findings highlight ChatGPT’s potential as a reliable assistant for better healthcare communication and clinical operations. Future research should validate these results across broader medical topics and languages to ensure robust integration of GenAI in healthcare. Full article

Autism spectrum disorder (ASD) deals with several symptoms, including language and speech impairment and developmental delays. The main brain regions affected could be the prefrontal cortex (PFC) or the temporal lobe. The detrimental features could include oxidative stress, mitochondrial dysfunction, and neuroinflammation. Most often, these phenomena are interrelated and can lead to one another, creating a vicious cycle. They also influence the regulation of certain genes involved in the pathogenesis of ASD or related behavior. In the brain regions prone to these detrimental features, a cascade of free radicals, inflammatory cytokines, and mitochondrial energy disruptions is initiated. These actions during the prenatal or developmental stage of the child potentially lead to ASD symptomatic features, such as social isolation, communication difficulty, speech and language impairment, cognitive dysfunction, and intellectual disability. The more recent theories, including genetics, epigenetics, and the gut–brain axis, have been demonstrated to play a greater role in ASD pathology, often being associated with the more common ones as mentioned above. We also introduced some of the neurological disorders possessing shared genetic and behavioral traits with ASD. Many genes playing a role in ASD-like features and their potential targeted drugs were explained briefly. However, there are limited therapeutic options, and molecular pathways related to this disorder are less explored. Currently, researchers and therapists are racing to uncover a concrete remedy. This review also provides a brief outline of potential antioxidant, mitochondrial, and anti-inflammatory therapies. We finally included some novel strategies to diagnose and manage autistic pathology and symptoms. Full article

Background/Objective: Puberphonia is a voice disorder characterized by the persistence of a high-pitched voice in sexually mature males. In phoniatrics and speech-language pathology, it is also known as post-mutational voice instability, mutational falsetto, persistent fistulous voice, or functional falsetto. The absence of an age-appropriate vocal pitch may adversely affect psychological well-being and hinder personal, social, and occupational functioning. The aim of this study was to evaluate of the impact of phoniatric and logopedic rehabilitation on voice quality in patients with puberphonia. Methods: The study included 18 male patients, aged 16 to 34 years, rehabilitated for voice mutation disorders. Phoniatric and logopedic rehabilitation included voice therapy tailored to each subject. A logopedist led exercises aimed at lowering and stabilizing the pitch of the voice and improving its quality. A phoniatrician supervised the therapy, monitoring the condition of the vocal apparatus and providing additional diagnostic and therapeutic recommendations as needed. The duration and intensity of the therapy were adjusted for each patient. Before and after voice rehabilitation, the subjects completed the following questionnaires: the Voice Handicap Index (VHI), the Vocal Tract Discomfort (VTD) scale, and the Voice-Related Quality of Life (V-RQOL). They also underwent an acoustic voice analysis. Results: Statistical analysis of the VHI, VTD, and V-RQOL scores, as well as the voice’s acoustic parameters, showed statistically significant differences before and after rehabilitation (p < 0.005). Conclusions: Phoniatric and logopedic rehabilitation is an effective method of reducing and maintaining a stable, euphonic male voice in patients with functional puberphonia. Effective voice therapy positively impacts selected aspects of psychosocial functioning reported by patients, improves voice-related quality of life, and reduces physical discomfort in the vocal tract. Full article

Background/Objectives: Communication disorders in childhood, including expressive, receptive, pragmatic, and fluency impairments, have been consistently linked to mental health challenges such as anxiety, depression, and behavioural difficulties. However, existing research remains fragmented across diagnostic categories and developmental stages. This scoping review aimed to synthesise empirical evidence on the relationship between communication disorders and mental health outcomes in children and adolescents and to identify key patterns and implications for practice and policy. Methods: Following the PRISMA Extension for Scoping Reviews (PRISMA-ScR) and Arksey and O’Malley’s framework, this review included empirical studies published in English between 2000 and 2024. Five databases were searched, and ten studies met the inclusion criteria. Data were charted and thematically analysed to explore associations across communication profiles and emotional–behavioural outcomes. Results: Four interconnected themes were identified: (1) emotional and behavioural manifestations of communication disorders; (2) social burden linked to pragmatic and expressive difficulties; (3) family and environmental stressors exacerbating child-level challenges; and (4) a lack of integrated care models addressing both communication and mental health needs. The findings highlight that communication disorders frequently co-occur with emotional difficulties, often embedded within broader social and systemic contexts. Conclusions: This review underscores the need for developmentally informed, culturally responsive, and interdisciplinary service models that address both communication and mental health in children. Early identification, family-centred care, and policy reforms are critical to reducing inequities and improving outcomes for this underserved population. Full article

Background/Objectives: Successful discourse relies not only on linguistic but also on prosodic information. Difficulty recognizing emotion conveyed through prosody (receptive affective aprosodia) following right hemisphere stroke (RHS) significantly disrupts communication participation and personal relationships. Growing evidence suggests that damage to white matter in addition to gray matter structures impairs affective prosody recognition. The current study investigates lesion–symptom associations in receptive affective aprosodia during RHS recovery by assessing whether disruptions in distinct white matter structures impact different underlying affective prosody recognition skills. Methods: Twenty-eight adults with RHS underwent neuroimaging and behavioral testing at acute, subacute, and chronic timepoints. Fifty-seven healthy matched controls completed the same behavioral testing, which comprised tasks targeting affective prosody recognition and underlying perceptual, cognitive, and linguistic skills. Linear mixed-effects models and multivariable linear regression were used to assess behavioral performance recovery and lesion–symptom associations. Results: Controls outperformed RHS participants on behavioral tasks earlier in recovery, and RHS participants’ affective prosody recognition significantly improved from acute to chronic testing. Affective prosody and emotional facial expression recognition were affected by external capsule and inferior fronto-occipital fasciculus lesions while sagittal stratum lesions impacted prosodic feature recognition. Accessing semantic representations of emotions implicated the superior longitudinal fasciculus. Conclusions: These findings replicate previously observed associations between right white matter tracts and affective prosody recognition and further identify lesion–symptom associations of underlying prosodic recognition skills throughout recovery. Investigation into prosody’s behavioral components and how they are affected by injury can help further intervention development and planning. Full article

School readiness during early childhood is crucial for future academic success. Existing guidelines recommend a comprehensive approach. This concurrent validation study developed a School Readiness Index (SRI) with five readiness domains: early learning skills, approach to learning, cognitive skills, socioemotional development, and physical health. Through a cross-sectional comparative design, the school readiness skills of 119 Puerto Rican children (63 males, 56 females) aged 54–65 months were assessed using standardized tests (e.g., Batería IV Woodcock-Muñoz and NIH Toolbox Cognition Battery), parental questionnaires (e.g., Ages and Stages Questionnaire-3), and physical health assessments. Each measure was scored and classified using a binary coding system (0 and 1) based on participant abilities (e.g., 1 for expected performance, 0 if below expectations). A composite SRI score was calculated using 25 indicators. Discriminant validity was assessed by comparing children’s registration status in the special education program (SEP). Sex, household income, and maternal education are key determinants of school readiness. Children registered in the SEP had significantly lower composite scores than those not registered, supporting the SRI’s discriminant validity. The SRI is a reliable tool for identifying Hispanic children from Puerto Rico who may benefit from additional support. Inclusive and multidisciplinary assessment strategies are essential. Full article

The assessment of hearing in children is important, as hearing deficits can impair child development. The Auditory Steady-State Response (ASSR) is an electrophysiological technique that is able to simultaneously evaluate both ears at four frequencies, making it advantageous for testing children where the test time needs to be as short as possible. The objective of this work was to perform a literature review on the effectiveness of ASSR to gauge hearing thresholds in babies, infants, and children, examining its ability to distinguish mild hearing loss from normal cases. This review used PubMed, Web of Science, and Scopus databases from 2014 to 2024. A total of 1226 articles were identified, although only 16 met the previously established inclusion criteria. It was found that ASSR is a reliable diagnostic tool for babies, infants, and children. Recent work appears better able to distinguish mild hearing loss from normal hearing. One unresolved aspect that needs additional attention is the effectiveness of using bone-conducted stimuli. Full article

(1) Background: The integration of digital technologies such as electronic health records (EHRs), telepsychiatry, and communication platforms has transformed the mental health sector a lot compared to in previous years. While these tools enhance service delivery, they also introduce unique stressors. Despite growing concerns, there is no validated instrument specifically designed to measure the digital stress experienced by mental health professionals. (2) Methods: This study involved the development and psychometric validation of the Digital Stress Scale (DSC). The process included item generation through a literature review and qualitative interviews, expert panel validation, and a two-phase statistical evaluation. Exploratory Factor Analysis (EFA) and Confirmatory Factor Analysis (CFA) were conducted on responses from 423 licensed mental health professionals using EHRs and digital communication tools. The scale’s reliability and convergent validity were assessed via internal consistency and correlations with established mental health measures. (3) Results: The final DSC included four subscales: digital fatigue, technostress, digital disengagement, and work–life digital boundaries. CFA supported the factor structure (CFI = 0.965, RMSEA = 0.038), and the overall reliability was acceptable (Cronbach’s Alpha = 0.87). Descriptive analysis showed moderate-to-high levels of digital stress (M = 11.94, SD = 2.72). Digital fatigue was the strongest predictor of total stress (β = 1.00, p < 0.001), followed by technostress and work–life boundary violations. All subscales were significantly correlated with burnout (r = 0.72), job dissatisfaction (r = −0.61), and perceived stress (r = 0.68), all with a p < 0.001. (4) Conclusions: The DSC is a valid and reliable tool for assessing digital stress among mental health professionals. Findings point out the urgent need for policy-level interventions to mitigate digital overload, promote healthy work–life boundaries, and enhance digital competency in mental health settings. Full article

Background/Objectives: This study aimed to (i) cross-culturally adapt the Inventory of Hyperacusis (IHS) into Danish and (ii) assess its usability, validity, and reliability in Danish adults with hyperacusis. Methods: The translation followed established guidelines for adapting hearing-related questionnaires. A two-phase design ensured linguistic and cultural adaptation and evaluated test–retest reliability and construct validity. The IHS, consisting of 25 items, was translated and tested in seven participants through cognitive debriefing. In phase two, temporal consistency was assessed in 32 patients. Results: Thirty-two participants (twenty-eight female; mean age 49.8 years) completed the study over 2–4 weeks (mean 22 days). Eight used hearing aids, and twenty-four reported tinnitus. The Danish IHS showed good reliability (Cronbach’s alpha = 0.95) and acceptable test–retest reliability, except for the General Loudness factor. While no systematic score changes occurred, significant variability in score changes were noted. Conclusions: The Danish IHS appears to be a reliable and valid tool for assessing hyperacusis. Further research is needed, but the IHS-DK shows potential as an effective clinical and research tool for evaluating hyperacusis impact and treatment outcomes. Full article

Introduction: This study aimed to compare different scoring methods, such as phoneme, syllable, and word-based scoring, during word recognition in noise testing and their interaction with hearing loss severity. These scoring methods provided a structured framework for refining clinical audiological diagnosis by revealing underlying auditory processing at multiple linguistic levels. We highlight how scoring differences inform differential diagnosis and guide targeted audiological interventions. Methods: Pure tone audiometry and word-in-noise testing were conducted on 100 subjects with a wide range of hearing loss severity. Speech recognition was scored using phoneme, syllable, and word-based methods. All procedures were designed to reflect standard diagnostic protocols in clinical audiology. Discriminant function analysis examined how these scoring methods differentiate the degree of hearing loss. Results: Results showed that each method provides unique information about auditory processing. Phoneme-based scoring has pointed out basic auditory discrimination; syllable-based scoring can capture temporal and phonological processing, while word-based scoring reflects real-world listening conditions by incorporating contextual knowledge. These findings emphasize the diagnostic value of each scoring approach in clinical settings, aiding differential diagnosis and treatment planning. Conclusions: This study showed the effect of different scoring methods on hearing loss differentiation concerning severity. We recommend the integration of phoneme-based scoring into standard diagnostic batteries to enhance early detection and personalize rehabilitation strategies. Future research must involve studies about integration with other speech perception tests and applicability across different clinical settings. Full article

In health professions education, the hidden curriculum is a set of implicit rules and expectations about how clinicians act and what they value. In fields that are very homogenous, such as rehabilitation professions, these expectations may have outsized impacts on students from minoritized backgrounds. This qualitative study examined the hidden curriculum in rehabilitation graduate programs—speech-language pathology, occupational therapy, and physical therapy—through the perspectives and experiences of 21 students from minoritized backgrounds. Semi-structured interviews explored their experiences with their programs’ hidden curricula. These revealed expectations about ways of being, interacting, and relating. Three overarching themes emerged, each reflecting tensions between conflicting values: (i) blend in but stand out; (ii) success lies in individualism, while de-prioritizing the individual; and (iii) fix the field, using your identities as a tool. When the expectations aligned with students’ expectations for themselves, meeting them was a source of pride. However, when the social expectations clashed with their own culture, dis/ability, gender, or neurotype, these tensions became an additional cognitive burden, and they rarely received mentorship for navigating it. Health professions programs might benefit from fostering students’ critical reflection on their hidden curricula and their fields’ cultural norms to foster greater belonging, agency, and identity retention. Full article

Periodontal disease is a chronic inflammatory condition that extends beyond the oral cavity and is increasingly recognized as a significant contributor to cardiovascular disease, the leading cause of global mortality. Systemic inflammation serves as the key link between the two, with elevated biomarkers such as C-reactive protein and interleukin-6 observed in individuals with PD, driving endothelial dysfunction and atherogenesis. Epidemiological and mechanistic studies consistently demonstrate that PD not only heightens the risk of major adverse cardiovascular events but is also independently associated with increased all-cause and cardiovascular mortality. In parallel, emerging research underscores the protective role of regular physical activity and improved cardiorespiratory fitness, which attenuate systemic inflammation and may reduce the burden of both PD and CVD. This review integrates current evidence on the shared inflammatory mechanisms linking PD and CVD, highlights the systemic impact of poor oral health, and advocates for incorporating exercise-based interventions and oral health assessments into comprehensive cardiovascular risk management. A multidisciplinary approach—bridging cardiology, dentistry, and preventive medicine—may offer a novel strategy to reduce inflammation-driven morbidity and mortality. Full article