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Search Results (268)

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10 pages, 226 KiB  
Article
Application of White Noise in Minors with Autism Spectrum Disorder
by Miquel Salmerón Medina, Ana Blázquez, Amanda Cercos and Rosa Calvo
Behav. Sci. 2025, 15(7), 988; https://doi.org/10.3390/bs15070988 - 21 Jul 2025
Viewed by 290
Abstract
Individuals with Autism Spectrum Disorder (ASD) often experience sensory hyperreactivities that interfere with daily life activities. White noise, characterized by its uniformity and its ability to mask environmental sounds, may serve as a tool to improve sensory and emotional regulation in children with [...] Read more.
Individuals with Autism Spectrum Disorder (ASD) often experience sensory hyperreactivities that interfere with daily life activities. White noise, characterized by its uniformity and its ability to mask environmental sounds, may serve as a tool to improve sensory and emotional regulation in children with ASD. The primary objective was to evaluate the response to white noise in improving self-regulation in minors with ASD. As a secondary objective, the study assessed whether there were differences in the response to white noise between patients with ASD and those with ASD and Intellectual Disability (ID). This study was conducted in the Child and Adolescent Psychiatry and Psychology Department of Hospital Clínic of Barcelona. A total of 54 patients, aged between 7 and 17 years, were included. The patients were divided into two groups: Group 1 consisted of patients diagnosed with ASD (n = 21), and Group 2 included patients diagnosed with ASD and ID (n = 33). White noise was offered to the patients, and their response was evaluated before and after the exposure using the Conners Teacher Rating Scale. Overall, the response to white noise in the sample was positive, with a significant difference in scores on the Conners Teacher Rating Scale (p < 0.001). When dividing the sample into the ASD group and the ASD + ID group, it was observed that the ASD + ID group tolerated white noise better and had a longer exposure time, although both groups showed improved scores on the Conners Teacher Rating Scale. White noise may be a valuable tool to enhance well-being in individuals with ASD, reduce motor restlessness, and increase attention span and emotional stability. However, its effectiveness varies across individuals. It is recommended to tailor its use to individual needs and to extend future research by incorporating physiological measures and larger sample sizes. Full article
15 pages, 1872 KiB  
Article
Cognitive Performance and Quality of Life in Relapsing–Remitting Multiple Sclerosis: A BICAMS- and PROs-Based Study in a Mexican Public Hospital
by María Fernanda Castillo-Zuñiga, Rodolfo Manuel Roman-Guzman and Idefonso Rodríguez-Leyva
NeuroSci 2025, 6(3), 66; https://doi.org/10.3390/neurosci6030066 - 19 Jul 2025
Viewed by 288
Abstract
Background: Cognitive impairment (CI) is a common and disabling symptom in patients with relapsing–remitting multiple sclerosis (RRMS), potentially emerging at any stage, including preclinical phases. Despite its impact on quality of life, CI often goes unrecognized, as clinical follow-up typically focuses on motor [...] Read more.
Background: Cognitive impairment (CI) is a common and disabling symptom in patients with relapsing–remitting multiple sclerosis (RRMS), potentially emerging at any stage, including preclinical phases. Despite its impact on quality of life, CI often goes unrecognized, as clinical follow-up typically focuses on motor and sensory symptoms. Validated tools, such as the Brief International Cognitive Assessment for Multiple Sclerosis (BICAMS) and patient-reported outcomes (PROs), should be integrated into routine evaluations beyond the Expanded Disability Status Scale (EDSS). Objective: The objective of this study was to evaluate cognitive impairment and quality of life in patients with RRMS using the BICAMS and PROs. Methods: This cross-sectional, descriptive study included patients with RRMS under follow-up at a tertiary hospital in San Luis Potosí, Mexico. Participants underwent cognitive screening with the BICAMS battery and completed the MSQoL-54 (quality of life), FSMC (fatigue), and MSIS-29 (functional impact) scales. Statistical analyses included ANOVA, the Kruskal–Wallis test, and Pearson correlations. Results: Nineteen patients were evaluated (73.7% female, mean age 36.5 ± 8.9 years). BICAMS results showed variable cognitive performance, with no significant differences across treatment groups for processing speed (p = 0.222), verbal memory (p = 0.082), or visuospatial memory (p = 0.311). A significant correlation was found between verbal and visuospatial memory (r = 0.668, p = 0.002). Total quality of life differed significantly across treatments (F = 8.007, p = 0.029), with a strong correlation between overall quality of life and general health perception (r = 0.793, p < 0.001). Fatigue and MSIS scores showed no association with treatment. Conclusions: Cognitive impairment is common in RRMS and can be detected using brief assessment tools, such as the BICAMS. Incorporating cognitive screening and PROs into clinical practice is essential to guide comprehensive management. Full article
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12 pages, 612 KiB  
Article
Treatment of Chronic Neck Pain with Transcranial Direct Current Stimulation: A Single-Blinded Randomized Clinical Trial
by Manuel Rodríguez-Huguet, Miguel Ángel Rosety-Rodríguez, Daniel Rodríguez-Almagro, Rocío Martín-Valero, Maria Jesus Vinolo-Gil, Jorge Bastos-Garcia and Jorge Góngora-Rodríguez
Biomedicines 2025, 13(7), 1746; https://doi.org/10.3390/biomedicines13071746 - 17 Jul 2025
Viewed by 471
Abstract
Background/Objectives: Neck pain is defined as an unpleasant sensory and emotional experience associated with actual or potential tissue damage, affecting the cervical region. It represents one of the leading causes of disability, with a prevalence of 30%. Transcranial direct current stimulation (tDCS) [...] Read more.
Background/Objectives: Neck pain is defined as an unpleasant sensory and emotional experience associated with actual or potential tissue damage, affecting the cervical region. It represents one of the leading causes of disability, with a prevalence of 30%. Transcranial direct current stimulation (tDCS) is a non-invasive electrotherapy technique that enables direct modulation of cortical excitability. It involves the application of a low-intensity electrical current to the scalp, targeting the central nervous system. The aim of this study was to analyze the effects of tDCS on functionality, pain, mobility, and pressure pain threshold in patients with chronic nonspecific neck pain. Methods: Thirty participants (18–60 years) were selected to receive ten treatment sessions over a four-week period using tDCS (CG = 15) or transcutaneous electrical nerve stimulation (TENS) (CG = 15), with the following various related variables evaluated: functionality (Neck Disability Index), pain intensity (NPRS), cervical range of motion (ROM), and pressure pain threshold (PPT). Assessments were conducted at baseline, post-treatment, one month, and three months after the intervention. Results: The within-group analysis revealed statistically significant improvements for both groups at post-treatment, one-month follow-up, and three-month follow-up. Conclusions: The comparison between groups shows favorable changes in the tDCS group for PPT measurements. Full article
(This article belongs to the Section Neurobiology and Clinical Neuroscience)
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21 pages, 482 KiB  
Review
Assistive Technologies for Individuals with a Disability from a Neurological Condition: A Narrative Review on the Multimodal Integration
by Mirjam Bonanno, Beatrice Saracino, Irene Ciancarelli, Giuseppe Panza, Alfredo Manuli, Giovanni Morone and Rocco Salvatore Calabrò
Healthcare 2025, 13(13), 1580; https://doi.org/10.3390/healthcare13131580 - 1 Jul 2025
Viewed by 846
Abstract
Background/Objectives: Neurological disorders often result in a broad spectrum of disabilities that impact mobility, communication, cognition, and sensory processing, leading to significant limitations in independence and quality of life. Assistive technologies (ATs) offer tools to compensate for these impairments, support daily living, and [...] Read more.
Background/Objectives: Neurological disorders often result in a broad spectrum of disabilities that impact mobility, communication, cognition, and sensory processing, leading to significant limitations in independence and quality of life. Assistive technologies (ATs) offer tools to compensate for these impairments, support daily living, and improve quality of life. The World Health Organization encourages the adoption and diffusion of effective assistive technology (AT). This narrative review aims to explore the integration, benefits, and challenges of assistive technologies in individuals with neurological disabilities, focusing on their role across mobility, communication, cognitive, and sensory domains. Methods: A narrative approach was adopted by reviewing relevant studies published between 2014 and 2024. Literature was sourced from PubMed and Scopus using specific keyword combinations related to assistive technology and neurological disorders. Results: Findings highlight the potential of ATs, ranging from traditional aids to intelligent systems like brain–computer interfaces and AI-driven devices, to enhance autonomy, communication, and quality of life. However, significant barriers remain, including usability issues, training requirements, accessibility disparities, limited user involvement in design, and a low diffusion of a health technology assessment approach. Conclusions: Future directions emphasize the need for multidimensional, user-centered solutions that integrate personalization through machine learning and artificial intelligence to ensure long-term adoption and efficacy. For instance, combining brain–computer interfaces (BCIs) with virtual reality (VR) using machine learning algorithms could help monitor cognitive load in real time. Similarly, ATs driven by artificial intelligence technology could be useful to dynamically respond to users’ physiological and behavioral data to optimize support in daily tasks. Full article
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16 pages, 302 KiB  
Review
Advances in Neuromodulation and Digital Brain–Spinal Cord Interfaces for Spinal Cord Injury
by Phillip Jaszczuk, Denis Bratelj, Crescenzo Capone, Marcel Rudnick, Tobias Pötzel, Rajeev K. Verma and Michael Fiechter
Int. J. Mol. Sci. 2025, 26(13), 6021; https://doi.org/10.3390/ijms26136021 - 23 Jun 2025
Viewed by 1083
Abstract
Spinal cord injury (SCI) results in a significant loss of motor, sensory, and autonomic function, imposing substantial biosocial and economic burdens. Traditional approaches, such as stem cell therapy and immune modulation, have faced translational challenges, whereas neuromodulation and digital brain–spinal cord interfaces combining [...] Read more.
Spinal cord injury (SCI) results in a significant loss of motor, sensory, and autonomic function, imposing substantial biosocial and economic burdens. Traditional approaches, such as stem cell therapy and immune modulation, have faced translational challenges, whereas neuromodulation and digital brain–spinal cord interfaces combining brain–computer interface (BCI) technology and epidural spinal cord stimulation (ESCS) to create brain–spine interfaces (BSIs) offer promising alternatives by leveraging residual neural pathways to restore physiological function. This review examines recent advancements in neuromodulation, focusing on the future translation of clinical trial data to clinical practice. We address key considerations, including scalability, patient selection, surgical techniques, postoperative rehabilitation, and ethical implications. By integrating interdisciplinary collaboration, standardized protocols, and patient-centered design, neuromodulation has the potential to revolutionize SCI rehabilitation, reducing long-term disability and enhancing quality of life globally. Full article
37 pages, 7361 KiB  
Review
Evolution and Knowledge Structure of Wearable Technologies for Vulnerable Road User Safety: A CiteSpace-Based Bibliometric Analysis (2000–2025)
by Gang Ren, Zhihuang Huang, Tianyang Huang, Gang Wang and Jee Hang Lee
Appl. Sci. 2025, 15(12), 6945; https://doi.org/10.3390/app15126945 - 19 Jun 2025
Viewed by 538
Abstract
This study presents a systematic bibliometric review of wearable technologies aimed at vulnerable road user (VRU) safety, covering publications from 2000 to 2025. Guided by PRISMA procedures and a PICo-based search strategy, 58 records were extracted and analyzed in CiteSpace, yielding visualizations of [...] Read more.
This study presents a systematic bibliometric review of wearable technologies aimed at vulnerable road user (VRU) safety, covering publications from 2000 to 2025. Guided by PRISMA procedures and a PICo-based search strategy, 58 records were extracted and analyzed in CiteSpace, yielding visualizations of collaboration networks, publication trajectories, and intellectual structures. The results indicate a clear evolution from single-purpose, stand-alone devices to integrated ecosystem solutions that address the needs of diverse VRU groups. Six dominant knowledge clusters emerged—street-crossing assistance, obstacle avoidance, human–computer interaction, cyclist safety, blind navigation, and smart glasses. Comparative analysis across pedestrians, cyclists and motorcyclists, and persons with disabilities shows three parallel transitions: single- to multisensory interfaces, reactive to predictive systems, and isolated devices to V2X-enabled ecosystems. Contemporary research emphasizes context-adaptive interfaces, seamless V2X integration, and user-centered design, and future work should focus on lightweight communication protocols, adaptive sensory algorithms, and personalized safety profiles. The review provides a consolidated knowledge map to inform researchers, practitioners, and policy-makers striving for inclusive and proactive road safety solutions. Full article
(This article belongs to the Section Computing and Artificial Intelligence)
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16 pages, 274 KiB  
Article
Risk Factors for Chronic Pain in Women: The Role of Violence Exposure in a Case–Control Study
by Allison Uvelli, Erica Pugliese and Fabio Ferretti
Life 2025, 15(6), 976; https://doi.org/10.3390/life15060976 - 18 Jun 2025
Viewed by 545
Abstract
Background: Chronic pain is an unpleasant sensory and emotional experience that greatly affects functioning and well-being. Studies link chronic pain and violence against women, with an odds ratio of 2.08 and a 26% prevalence rate. The bio-psycho-social consequences reduce quality of life and [...] Read more.
Background: Chronic pain is an unpleasant sensory and emotional experience that greatly affects functioning and well-being. Studies link chronic pain and violence against women, with an odds ratio of 2.08 and a 26% prevalence rate. The bio-psycho-social consequences reduce quality of life and cause disability. Despite extensive research, the etiology remains unclear. This study investigates the bio-psycho-social risk factors of chronic pain in women, both victims and non-victims of violence. Methods: A case–control study (December 2023–June 2024) used odds ratios and Fisher’s exact test to explore risk factors associated with chronic pain. Univariate logistic regressions identified significant predictors. Results: The study included 170 women (68 victims), half with chronic pain. Nine risk factors were specific to victims (three biological, six psycho-social), four to non-victims (two biological, two psycho-social), and twenty-three to all women (five biological, eighteen psycho-social). A four-factor model best explained risk in victims and all women, while a two-factor model fit non-victims. Conclusions: The bio-psycho-social model of chronic pain is supported, identifying specific risk factors. These findings can aid anti-violence and healthcare professionals in screening and early intervention. Full article
(This article belongs to the Special Issue Pain and Therapy: Historical Perspectives and Future Directions)
14 pages, 2244 KiB  
Article
Positive Effects of (+)-Epicatechin on Traumatic Spinal Cord Injury Recovery
by Cristian Gonzalez-Ruiz, Rodrigo Mondragón-Lozano, Hermelinda Salgado-Ceballos, Francisco Villarreal, Yuridia Martínez-Meza, Eduardo Meaney, Nayelli Nájera and Guillermo Ceballos
Biomolecules 2025, 15(6), 869; https://doi.org/10.3390/biom15060869 - 14 Jun 2025
Viewed by 463
Abstract
Neurological damage from traumatic spinal cord injury (SCI) results in a grade of disability ranging from mild to severe motor and sensory dysfunction. It occurs more frequently in men of productive age. Treatment essentially consists of anti-inflammatories and rehabilitation. Other treatments are only [...] Read more.
Neurological damage from traumatic spinal cord injury (SCI) results in a grade of disability ranging from mild to severe motor and sensory dysfunction. It occurs more frequently in men of productive age. Treatment essentially consists of anti-inflammatories and rehabilitation. Other treatments are only partially effective, and inadequate treatment and secondary conditions often cause premature mortality. The search for pharmacological approaches is a continuous effort. This study aimed to assess the effects of a natural compound on spinal cord injury (SCI) as an alternative damage prevention maneuver. We evaluated the protective effects of the flavanol (+)-epicatechin (EC) in a rat model of moderate trauma-induced SCI on protein markers of damage events. The results showed that EC induced significant protection against SCI. No changes were found in angiopoietin-1, beclin-1, myelin basic protein, glial fibrillary acidic protein, neurofilament heavy polypeptide, and neuronal nuclear antigen after the injury, suggesting that damage progression was impeded. The reduction in damage translates into better movement. The results suggest that (+)-epicatechin may be a suitable alternative for treating SCI. Full article
(This article belongs to the Special Issue Feature Papers in the Natural and Bio-Derived Molecules Section)
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14 pages, 549 KiB  
Article
The Role of VibraPlus on Fatigue in Multiple Sclerosis Patients: A Randomized Controlled Trial
by Caterina Formica, Desirée Latella, Lilla Bonanno, Antonino Lombardo Facciale, Giuseppe Paladina, Antonino Leo, Luca Pergolizzi, Bartolo Fonti, Angelo Quartarone, Roberta Cellini and Rocco Salvatore Calabrò
J. Clin. Med. 2025, 14(11), 3990; https://doi.org/10.3390/jcm14113990 - 5 Jun 2025
Viewed by 854
Abstract
Background and Objective: Fatigue represents a hallmark symptom in Multiple Sclerosis (MS), but its diagnosis and clinical evaluation is difficult because it is described as a subjective feeling of exhausted physical and mental sensation. Studies have also shown that approaches based on assisted [...] Read more.
Background and Objective: Fatigue represents a hallmark symptom in Multiple Sclerosis (MS), but its diagnosis and clinical evaluation is difficult because it is described as a subjective feeling of exhausted physical and mental sensation. Studies have also shown that approaches based on assisted therapies and robotics, as well as the use of vibration, which are used to improve sensory integration, reduce fatigue. The primary outcome in this study is to evaluate the effects of the application of focal vibrations on the reduction in fatigue, muscle strength, and endurance in MS patients with moderate disability. The secondary outcome is to assess the effects on quality of life, cognitive status, and mood. Methods: We enrolled 40 MS patients. The study was designed as a parallel randomized controlled trial: 20 patients were assigned to the experimental group (EG), who received vibration training, and 20 to the control group (CG), who received traditional physical exercise. Results: We found significant differences in the EG in fatigue, motor, and cognitive outcome and improvement of some aspects of quality of life (QoL). There are correlations between perceived multidimensional fatigue and cadence, step length, and health quality of life composite. Conclusions: Our study demonstrated the potential effectiveness of vibration training in balance, walking endurance, and reduction in the risk of falls in patients with Multiple Sclerosis. In addition, we added evidence about fatigue, non-motor outcomes, in particular promoting mental and physical QoL and individual life satisfaction. The name of the registry is clinicaltrial.gov; the number of registration id NCT05783999; and the date of registration is 14 March 2023. Full article
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21 pages, 677 KiB  
Article
Maladaptive Compensatory Neural Mechanisms Associated with Activity-Related Osteoarthritis Pain: Dissociation of Psychological and Activity-Related Neural Mechanisms of WOMAC Pain and VAS Pain
by Marta Imamura, Kevin Pacheco-Barrios, Paulo S. de Melo, Anna Marduy, Linamara Battistella and Felipe Fregni
J. Clin. Med. 2025, 14(11), 3633; https://doi.org/10.3390/jcm14113633 - 22 May 2025
Viewed by 570
Abstract
Background/Objectives: Knee osteoarthritis (KOA) is one of the most common causes of chronic pain and disability in older adults. Its mechanisms are both peripheral and central, causing discordance between pain intensity and disease severity. To provide better, mechanism-driven treatments for KOA, it is [...] Read more.
Background/Objectives: Knee osteoarthritis (KOA) is one of the most common causes of chronic pain and disability in older adults. Its mechanisms are both peripheral and central, causing discordance between pain intensity and disease severity. To provide better, mechanism-driven treatments for KOA, it is important to understand the emotional, physical, and neurophysiological factors that influence pain intensity. Thus, we proposed a multivariate model investigation of the multimodal predictors of pain intensity in patients with chronic KOA pain. Methods: We conducted an extensive assessment of 105 KOA patients. We used two different types of outcomes: (i) activity-related (Western Ontario and McMaster Universities Osteoarthritis [WOMAC] pain scale), and (ii) non-specific (visual analog scale [VAS]) pain assessments. Results: We found the following. (1) A higher WOMAC pain score was predicted by sensory–motor markers (lower intracortical inhibition [p = 0.021] and higher beta-band oscillations [p = 0.027]) and central sensitization (dysfunctional CPM response [p < 0.001]), in addition to the psychological and peripheral sensitization factors (adjusted R2 = 52%, F (5, 99) = 22.81, p < 0.0001). (2) Conversely, higher VAS pain intensity was only predicted by psychological factors (higher depression [p = 0.021] and pain catastrophizing [p = 0.003]), peripheral sensitization (lower pain thresholds), and worse motor function (balance test) (adjusted R2 = 36%, F (5, 99) = 12.57, p < 0.0001). Interestingly, no TMS or EEG markers were associated with VAS pain. Conclusions: Our study supports the notion that pain during physical activity is associated with a neural signature that demonstrates a lack of compensatory mechanisms for pain (decreased cortical inhibition, higher beta-band oscillations, and defective CPM), and it is different from the pain at rest, measured by the VAS, which is related mostly to emotional circuit dysregulation. These findings are important for developing better-targeted neural therapies given the contribution of different neural mechanisms to OA pain. Full article
(This article belongs to the Section Orthopedics)
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16 pages, 4424 KiB  
Article
“True” Accessibility Barriers of Heritage Buildings
by Samir E. Chidiac and Mouna A. Reda
Buildings 2025, 15(9), 1528; https://doi.org/10.3390/buildings15091528 - 2 May 2025
Cited by 1 | Viewed by 1176
Abstract
Heritage buildings, which symbolize the pride of a nation, were built prior to the development of current standards, including those for accessibility. As nations strive for equity, diversity, and inclusion, creating barrier-free environments, including heritage buildings, becomes imperative. This study aims to identify [...] Read more.
Heritage buildings, which symbolize the pride of a nation, were built prior to the development of current standards, including those for accessibility. As nations strive for equity, diversity, and inclusion, creating barrier-free environments, including heritage buildings, becomes imperative. This study aims to identify the “true” accessibility barriers of heritage buildings. Accordingly, a three-part study was conducted: review current standards and best practices; document and investigate the accessibility lived experiences of people with different abilities in heritage buildings; and analyze and discuss the data. The findings revealed that 19%, 17%, and 64% of reported “true” barriers per building were attributed to the conflict between accessibility and heritage preservation, accessibility standard clarity/specificity, and accessibility standard compliance, respectively. In comparison, accessibility-trained professionals attributed 16%, 39%, and 45% of their assessments to the same categories. A significant number of accessibility barriers in heritage buildings can be mitigated by applying current standards. The accessibility needs of people with cognitive/intellectual disabilities are the least addressed and understood by the standards and accessibility-trained professionals. Full article
(This article belongs to the Section Architectural Design, Urban Science, and Real Estate)
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20 pages, 1143 KiB  
Review
Perfecting Sensory Restoration and the Unmet Need for Personalized Medicine in Cochlear Implant Users: A Narrative Review
by Archana Podury, Brooke Barry, Karen C. Barrett and Nicole T. Jiam
Brain Sci. 2025, 15(5), 479; https://doi.org/10.3390/brainsci15050479 - 1 May 2025
Viewed by 1613
Abstract
Hearing loss is one of the most common and undertreated medical conditions worldwide, with an estimated 466 million people (5% of the world’s population) reporting disabling hearing impairment. The implications are significant; untreated hearing loss increases the risk of depression, social isolation, unemployment, [...] Read more.
Hearing loss is one of the most common and undertreated medical conditions worldwide, with an estimated 466 million people (5% of the world’s population) reporting disabling hearing impairment. The implications are significant; untreated hearing loss increases the risk of depression, social isolation, unemployment, cognitive decline, and falls. Cochlear implants (CIs) are surgically implanted electrical devices that allow people with severe hearing loss to process sound. Over the past 50 years, CI development has made remarkable ground, such that most CI users have adequate speech perception in a silent environment. These language achievements, while significant milestones, fall short of perfect sensory restoration. Many of these limitations with complex sound perception are due to our one-size-fits-all approach towards CIs and speech-based metrics for evaluating implant performance. In the past decade, there has been exponential interest in improving CI-mediated music perception, as it serves as a key conduit to restoring normal hearing. The present literature demonstrates the need for a personalized approach towards cochlear implantation and management. Our proposed narrative review illustrates the limitations of CI-mediated sound processing and discusses ways in which precision medicine can be introduced into the ever-expanding hearing loss population. Full article
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35 pages, 1622 KiB  
Article
Enhancing Accessibility in Philippine Public Bus Systems: Addressing the Needs of Persons with Disabilities
by Ma. Janice J. Gumasing, Timothy Ray P. Del Castillo, Antoine Gabriel L. Palermo, Janred Thien G. Tabino and Josiah T. Gatchalian
Disabilities 2025, 5(2), 45; https://doi.org/10.3390/disabilities5020045 - 30 Apr 2025
Viewed by 3023
Abstract
This study examines strategies to enhance transport inclusivity and passenger satisfaction for persons with disabilities in public bus systems in the Philippines. Drawing on data collected through an online questionnaire from 396 persons with disabilities who responded across various regions in the country, [...] Read more.
This study examines strategies to enhance transport inclusivity and passenger satisfaction for persons with disabilities in public bus systems in the Philippines. Drawing on data collected through an online questionnaire from 396 persons with disabilities who responded across various regions in the country, this study investigates eight key factors affecting satisfaction: vehicle design, diverse seating options, sensory considerations, assistance services, safety measures, subsidies/discounts, accessibility, and communication and information quality. Structural equation modeling (SEM) was used to analyze the hypothesized relationships between these variables, passenger satisfaction, and intention to reuse public transport. The SEM results revealed that accessibility (β = 0.359, p = 0.005), vehicle design (β = 0.248, p < 0.001), diverse seating options (β = 0.485, p < 0.001), safety measures (β = 0.3867, p = 0.001), and subsidies/discounts (β = 0.447, p < 0.001) significantly influenced passenger satisfaction. In turn, satisfaction had a strong positive effect on the future intention to use public transport (β = 0.760, p < 0.001). However, sensory considerations (β = 0.163, p = 0.225), assistance (β = 0.133, p = 0.519), and communication and information quality (β = 0.171, p = 0.345) were not statistically significant. The model demonstrated a good fit (chi-square/df = 4.03; SRMR = 0.078; NFI = 0.956), supporting the robustness of the proposed framework. These findings suggest that design-centered improvements and subsidies/discounts are critical to inclusive transport experiences, while overreliance on assistance may not guarantee satisfaction. This study recommends promoting autonomy through universal design, enhancing digital and physical accessibility, and increasing public awareness. These insights are intended to guide policymakers and transit authorities in creating a more inclusive, equitable, and user-driven transportation system. Full article
(This article belongs to the Special Issue Transportation and Disabilities: Challenges and Opportunities)
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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 737
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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9 pages, 1023 KiB  
Review
A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review
by Maria Tzetis, Anastasios Mitrakos, Ioanna Papathanasiou, Vasiliki Koute, Konstantina Kosma, Roser Pons, Aspasia Michoula, Ioanna Grivea and Aspasia Tsezou
Genes 2025, 16(5), 521; https://doi.org/10.3390/genes16050521 - 29 Apr 2025
Viewed by 916
Abstract
Background: Kleefstra syndrome 1(KLEFS1, OMIM#610253) is a rare neurodevelopmental disorder (NDD) instigated by heterozygous variants or microdeletions occurring in the 9q34.4 genomic region of the euchromatic histone methyltransferase-1 (EHMT1) gene and is inherited in an autosomal dominant (AD) manner. The clinical [...] Read more.
Background: Kleefstra syndrome 1(KLEFS1, OMIM#610253) is a rare neurodevelopmental disorder (NDD) instigated by heterozygous variants or microdeletions occurring in the 9q34.4 genomic region of the euchromatic histone methyltransferase-1 (EHMT1) gene and is inherited in an autosomal dominant (AD) manner. The clinical phenotype of KLEFS1 includes moderate to severe intellectual disability (ID), hypotonia, and distinctive facial features and additionally involves other organ systems (heart, renal, genitourinary, sensory) albeit with phenotypic heterogeneity between patients. The purpose of this study is to expand the genotypic spectrum of KLEFS1 and compare phenotypic features of the syndrome of already published cases. Methods: Exome sequencing (ES), chromosomal microarray analysis (CMA), as well as sanger sequencing, for confirmation of the de novo status of the frameshift variant, were used. Results: Here we describe two more cases, both males with a similar age and carriers of novel variants; one with a frameshift variant involving exon 13: p.Val692Glyfs*64 and the other with the smallest so far described, 11 Kb (exons 19-25), 9q34.4 microdeletion: 9q34.3 (140703393-140714454). Both presented with an NDD disorder with one showing more severe ID with significant social disabilities, while the other with the microdeletion had mild ID and following a normal education curriculum. Neither of them were obese nor had any other significant organ system disorder. Conclusions: The observed phenotypic variability due to genotypic differences in the two children contributes to the expanding spectrum of KLEFS1 disease phenotypes. Full article
(This article belongs to the Section Molecular Genetics and Genomics)
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