Search Results (1,200)

This study presents a systematic review regarding the use of augmented reality and virtual reality in exergaming by analyzing studies published during 2010–2025. This study focuses on providing an overview of the field and on examining and synthesizing the findings of related studies to identify the contexts, applications, and domains in which extended reality exergames are being used and the related implications, benefits, and challenges. Based on the results, augmented reality and virtual reality exergames offer immersive, enjoyable, engaging, and personalized experiences that support physical, cognitive, and emotional well-being, while enhancing physical performance, cognitive functioning, psychological outcomes, and mental health. They promote motivation, active lifestyles, and sustainable health behaviors across diverse populations, including older adults, individuals with disabilities, and neurological groups, as well as the general adult and youth populations. Although emphasis is placed on their use in physical and cognitive rehabilitation and treatment, they also show great potential to be effectively used in different domains, including education. Among the technologies examined, the significant majority of studies focused on virtual reality exergames, a limited number of studies involved augmented reality, and only a few studies examined mixed reality, extended reality, and the metaverse. Finally, nine main topics were identified through topic modeling, providing a clear representation of the core themes within the literature. Full article

Pathogenic variants in the MAP1B gene have been associated with neurological impairment, including intellectual disability, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, brain malformations, cognitive hearing loss, short stature, and dysmorphic features. However, few cases with detailed clinical characterization have been reported. We describe a 12-year-old boy carrying a loss-of-function MAP1B variant, presenting with severe elimination disorders despite normal intelligence. He was referred to the genetics service due to persistent elimination issues, including daytime urinary incontinence, nocturnal enuresis, and fecal incontinence. He had normal motor and cognitive development, with an IQ of 99; however, he also presented with ADHD, short stature, microcephaly, and myopia. Brain MRI revealed bilaterial subependymal periventricular nodular heterotopia (PVNH). Audiometry showed normal bilateral hearing. Testing fragile X syndrome (FXS) and karyotype analyses yielded normal results. Whole exome sequencing (WES) revealed a nonsense pathogenic variant in MAP1B (c.895 C>T; p.Arg299*). No other family members showed a similar phenotype; however, a great-uncle and a great-aunt had a history of nocturnal enuresis until age 10. The patient’s deceased mother had short stature and psychiatric disorders, and a history of consanguinity was reported on the maternal side. This case broadens the phenotypic spectrum associated with MAP1B syndrome, suggesting that elimination disorder, frequently reported in FXS, should also be evaluated in MAP1B pathogenic variant carriers. In addition, the presence of short stature also appears to be part of the syndrome. Full article

Background: Multiple Chemical Sensitivity (MCS) is a complex, disabling condition marked by non-specific symptoms in response to low-level chemical exposures. It often leads to substantial impairments in quality of life, psychological health, and daily functioning. Although non-pharmacological approaches—such as lifestyle and psychological interventions—are widely used, their clinical effectiveness remains unclear. Objective: We aim to evaluate the effectiveness of lifestyle-based approaches in improving clinical and psychosocial outcomes in adults with Multiple Chemical Sensitivity. Methods: A systematic review was conducted in accordance with PRISMA guidelines (PROSPERO: CRD420251013537). Literature searches were carried out in MEDLINE (PubMed), CINAHL, Google Scholar, and ResearchGate between March and April 2025. Eligible studies included adults (≥18 years) with a confirmed diagnosis of MCS and reported outcomes such as perceived stress, anxiety, depressive symptoms, or quality of life. Methodological quality and risk of bias were independently assessed using the PEDro scale, NIH Quality Assessment Tool, CEBMa checklist, and Cochrane RoB 2.0. Results: Twelve studies (N = 378) met the inclusion criteria. Cognitive and behavioral therapies demonstrated the most consistent evidence of efficacy, with reductions in symptom severity, maladaptive cognitive patterns, and functional limitations. Mindfulness-based stress reduction showed favorable outcomes, while other mindfulness-based interventions yielded mixed results. Exposure-based therapies contributed to increased chemical tolerance and reduced avoidance behavior. Electromagnetic and biomedical approaches demonstrated preliminary but limited effectiveness. Aromatherapy was well tolerated and perceived as relaxing, though its clinical impact was modest. Conclusions: Cognitive and behavioral therapies appear to be most effective among lifestyle-based interventions for MCS/IEI. However, study heterogeneity limits the generalizability of findings, underscoring the need for more rigorous research. Full article

Background/Objectives: Cognitive dysfunction is frequently observed in chronic migraine (CM) patients, but the contributing medical and psychological factors remain unclear. This study investigated associations between the cognitive reserve and medical, psychological, and lifestyle factors in individuals with CM. Methods: A retrospective review was conducted at a tertiary referral center in Taiwan. Cognitive function was evaluated via the mini-mental state examination (MMSE), while anxiety and depression were evaluated via the Beck Anxiety and Depression Inventories. Clinical variables included monthly headache days, headache intensity (numerical rating scale), migraine-related disability, and use of preventive medications. Multivariable linear regression analyses were performed to identify independent predictors of the cognitive reserve after adjusting for relevant covariates. Results: Among 50 participants (86.0% women; mean age 42.48 ± 13.47 years), six (12.0%) exhibited objective cognitive impairment (MMSE < cutoff). After a covariate adjustment, higher headache intensity was significantly associated with a lower cognitive reserve in anxiety and depression models. Patients with objective cognitive impairment reported significantly higher levels of pain, anxiety, and depression. Conclusions: The headache intensity, anxiety, and depression were significantly linked to a lower cognitive reserve in CM patients. These findings highlight the importance of incorporating routine psychological and cognitive assessments in CM care and suggest potential targets for integrative treatment strategies. Full article

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

Cognitive impairment is a prevalent and disabling feature of multiple sclerosis (MS), significantly impacting patients’ quality of life (QoL) and psychological well-being. Despite its clinical relevance, there are currently no approved pharmacological treatments for cognitive deficits in MS, highlighting the need for effective non-pharmacological interventions. This narrative review explores evidence from studies evaluating the efficacy of cognitive re-education (CR) approaches (including traditional, group-based, computer-assisted, virtual reality, and innovative methods such as music therapy) on cognitive and QoL outcomes in people with MS. The findings demonstrate that while CR consistently influences cognitive domains such as memory, attention, and executive function, its effects on QoL are more variable and often depend on intervention type, duration, and individual patient characteristics. Notably, integrative approaches like virtual reality and music therapy show promising results in enhancing both cognitive performance and psychosocial well-being. Several studies report that cognitive gains are accompanied by improvements in mental health and functional QoL, particularly when interventions are tailored to individual needs and delivered within multidisciplinary frameworks. However, some interventions yield only limited or transient QoL benefits, underlining the importance of personalized, goal-oriented strategies that address both cognitive and psychosocial dimensions. Further research is needed to optimize intervention strategies and clarify the mechanisms linking cognitive and QoL outcomes. Full article

Background/Objectives: Family self-care (FSC) is increasingly recognized as a vital aspect of caregiving in pediatric chronic conditions. However, its development in families of children with intellectual disabilities (IDs) remains underexplored. This study aimed to examine how families construct and sustain FSC, and to identify factors that shape its development across four domains: physical, cognitive, psychosocial, and behavioral. Methods: A qualitative study was conducted using an abductive approach, combining inductive thematic analysis with a deductively applied theoretical framework. Semi-structured interviews were carried out with nine families of children with ID in southern Portugal. The children ranged in age from 4 to 15 years, and the parents were aged between 29 and 53 years. The data was analyzed using Bardin’s content analysis, supported by NVivo software, and organized according to the FSC framework. This study followed COREQ guidelines. Results: The families described a range of self-care strategies, including environmental adaptations, experiential learning, emotional regulation, and long-term planning. These practices were shaped by contextual factors such as access to healthcare, relationships with professionals, emotional support networks, and socioeconomic conditions. Four emergent conclusions illustrate how structural and relational dynamics influence FSC in daily caregiving. Conclusions: FSC is a dynamic, multidimensional process shaped by lived experience, family interactions, and systemic support. The findings support inclusive, family-centered care models and inform clinical practice, training, and policy in pediatric IDs. Full article

Background. Major Depressive Disorder (MDD) is a highly prevalent and disabling condition frequently accompanied by cognitive deficits, impaired psychosocial functioning, and biological rhythm disturbances. Despite extensive literature on individual associations between depression and circadian disruptions, the mediating role of biological rhythms in the functional outcomes of MDD remains underexplored. Objectives. This study aimed to explore the associations between depression severity, biological rhythms, sleep quality, and psychosocial functioning, and to assess whether biological rhythm disturbances mediate the impact of depression on functioning. Methods. Sixty-one inpatients diagnosed with moderate-to-severe MDD were assessed using standardized instruments: BDI-II for depressive symptoms, BRIAN for biological rhythms, PSQI for sleep quality, and FAST for global functioning. Group comparisons, non-parametric correlations, and a mediation analysis were conducted to test direct and indirect effects. Results. Participants showed severe depressive symptoms, impaired functioning, disrupted biological rhythms, and poor sleep. Women reported more depressive episodes, reduced autonomy, and worse sleep than men. Depression severity was associated with circadian and sleep disturbances, which in turn related to functional impairment. Mediation analysis suggested that biological rhythms partially mediate the impact of depression on functioning. Conclusions. Findings from this preliminary analysis suggest that biological rhythm disturbances may play a mediating role in the relationship between depressive symptoms and daily psychosocial functioning. While not conclusive, these results highlight the potential relevance of chronobiological factors in understanding functional outcomes in MDD. Further research using longitudinal and controlled designs is needed to clarify these associations and their clinical implications. Full article

The integration of digital serious games into speech learning (rehabilitation) has demonstrated significant potential in enhancing accessibility and inclusivity for children with speech disabilities. This review of the state of the art examines the role of serious games, Artificial Intelligence (AI), and Natural Language Processing (NLP) in speech rehabilitation, with a particular focus on interaction modalities, engagement autonomy, and motivation. We have reviewed 45 selected studies. Our key findings show how intelligent tutoring systems, adaptive voice-based interfaces, and gamified speech interventions can empower children to engage in self-directed speech learning, reducing dependence on therapists and caregivers. The diversity of interaction modalities, including speech recognition, phoneme-based exercises, and multimodal feedback, demonstrates how AI and Assistive Technology (AT) can personalise learning experiences to accommodate diverse needs. Furthermore, the incorporation of gamification strategies, such as reward systems and adaptive difficulty levels, has been shown to enhance children’s motivation and long-term participation in speech rehabilitation. The gaps identified show that despite advancements, challenges remain in achieving universal accessibility, particularly regarding speech recognition accuracy, multilingual support, and accessibility for users with multiple disabilities. This review advocates for interdisciplinary collaboration across educational technology, special education, cognitive science, and human–computer interaction (HCI). Our work contributes to the ongoing discourse on lifelong inclusive education, reinforcing the potential of AI-driven serious games as transformative tools for bridging learning gaps and promoting speech rehabilitation beyond clinical environments. Full article

Hip fractures are among the most serious health events in older adults, frequently leading to disability, loss of independence, and elevated mortality. In 2019, an estimated 9.6 million new cases occurred globally among adults aged ≥ 55 years, with an incidence rate of 681 per 100,000. Despite improved surgical care, one-year mortality remains high (15–30%), and fewer than half of survivors regain their pre-fracture functional status. Traditionally regarded as mechanical injuries, hip fractures are now increasingly recognized as systemic events reflecting and accelerating biological vulnerability and frailty progression. We synthesize evidence across biological, clinical, and social domains to explore the systemic implications of hip fracture, from the acute catabolic response and immune dysfunction to long-term functional decline. The concept of intrinsic capacity, introduced by the World Health Organization, offers a resilience-based framework to assess the multidimensional impact of hip fracture on physical, cognitive, and psychological function. We highlight the importance of orthogeriatric co-management, early surgical intervention, and integrated rehabilitation strategies tailored to the individual’s functional reserves and personal goals. Innovations such as digital health tools, biological aging biomarkers, and personalized surgical approaches represent promising avenues to enhance recovery and autonomy. Ultimately, we advocate for a shift toward interdisciplinary, capacity-oriented models of care that align with the goals of healthy aging and enable recovery that transcends survival, focusing instead on restoring function and quality of life. Full article

Traumatic brain injury (TBI) affects millions of people worldwide and often results in long-term disabilities. Clinical outcomes vary widely even among patients with similar injury severity, partly due to systemic neuroinflammatory responses mediated by pro- and anti-inflammatory cytokines. Genetic polymorphisms in cytokine-coding genes may influence cytokine expression, thereby affecting rehabilitation and prognosis. We analyzed genetic polymorphisms in the TNF-α, IL-6, IL-6 receptor, IL-1β, and IL-10 genes in 28 subacute TBI patients undergoing rehabilitation. Clinical outcomes were assessed using the Glasgow Outcome Scale Extended (GOSE) and domain-specific scales for cognitive, motor, and functional recovery. Results were correlated with genetic profiles to identify potential predictive biomarkers. The IL-6-174 (GG) and IL-6R 1073 (AA) genotypes correlated with worse GOSE scores (p = 0.02 and p = 0.01, respectively). Co-segregation of IL-6-174 - IL-6R 1073 G-A alleles was linked to poorer outcomes (p = 0.01). Patients with the TNF-α-308 (GA) genotype showed less improvement in Barthel and Mobility scores (p = 0.001 and p = 0.01, respectively) and had a higher incidence of post-traumatic confusional state after rehabilitation (p = 0.03). Overall, the TNF-α-308(GA), IL-6 -174(GG), and IL-6R 1073(AA) genotypes negatively impact rehabilitation outcomes, likely due to their role in enhancing neuroinflammation. Larger studies are needed to develop personalized therapies tailored to genetic profiles, aiming to improve rehabilitation outcomes for TBI patients. Full article

This study presents an analysis of England’s 2023 national assessment of assistive technology (AT) access and use, with a particular focus on the qualitative impact of AT as described by users. It aims to address limitations in conventional AT impact assessments, which often prioritize clinical outcomes or user satisfaction, by offering a deeper account of how impact is experienced in everyday life. Drawing on data from a nationally representative survey of 7000 disabled adults and children, as well as six focus group discussions and 28 semi-structured interviews with stakeholders across the WHO 5Ps framework (People, Providers, Personnel, Policy, and Products), the study applies Amartya Sen and Martha Nussbaum’s Capability Approach to explore these experiences. Using inductive thematic analysis, we identify three main domains of user-reported impact: Functions and Activities (e.g., mobility, communication, vision, leisure, daily routines, and cognitive support), Outcomes (e.g., autonomy, quality of life, safety, social participation, wellbeing, and work and learning), and Lived Experience (e.g., access barriers, essentiality, identity and emotional connection, peace of mind, and sense of control and confidence). These findings offer a more user-centered understanding of AT impact and can inform the development of future measurement tools, research design, and government-led interventions to improve AT provision. Full article

Objectives/Background: Aarskog–Scott syndrome (AAS), also known as faciogenital dysplasia, is a rare X-linked genetic disorder primarily characterized by its diverse physical manifestations. Previous evidence suggests a potential association between AAS and neurodevelopmental disorders, including autism spectrum disorder (ASD). Methods: This case study presents a male adolescent with ASD and a novel genetic variant in FGD1 underlying AAS. We conducted comprehensive clinical, genetic, and behavioral assessments to characterize the neurodevelopmental presentation. Moreover, we examined the existing literature on AAS and comorbid neurodevelopmental disorders. Results: The patient demonstrated features consistent with both AAS and ASD, presenting with characteristic physical features of AAS and meeting diagnostic criteria for ASD on both ADI-R and ADOS-2. Cognitive assessment revealed above-average nonverbal IQ (Leiter-3, NVIQ = 115), while adaptive functioning was notably impaired (Vineland composite score = 65). Executive function deficits were identified through several assessments, though ADHD diagnostic criteria were not met. The literature review considered 64 studies, including 151 individuals with AAS. ASD was observed in 4.0%, Attention Deficit/Hyperactivity Disorder (ADHD) in 10.6%, and Intellectual Disability (ID) in 14.2% of cases. Conclusions: The combination of ASD with preserved nonverbal intelligence but impaired adaptive functioning in this AAS case demonstrates the complex neurodevelopmental manifestations possible in this rare genetic condition. The prevalence of neurodevelopmental disorders among people with AAS may be higher than their prevalence in the general population. However, a comprehensive assessment of developmental progress was rarely performed in previous studies, which may lead to systematic underestimation of co-occurring neurodevelopmental difficulties in AAS. Full article

Stroke is a major cause of long-term disability and mortality worldwide, often resulting in impairments not only in motor and cognitive functions but also in autonomic nervous system (ANS) regulation. Among the physiological markers that reflect ANS activity, heart rate variability (HRV) has emerged as a promising biomarker for assessing stroke severity and predicting recovery outcomes. HRV quantifies the temporal fluctuations between heartbeats and is traditionally analyzed through time- and frequency-domain measures. More recent approaches have introduced non-linear metrics such as approximate entropy, sample entropy, and detrended fluctuation analysis to capture complex heart rate dynamics. In this narrative review, we address the role of both linear and non-linear HRV parameters in the context of stroke, highlighting their relevance for understanding autonomic dysfunction and guiding rehabilitation. Evidence shows that reduced HRV is associated with poorer functional outcomes, higher mortality, and increased risk of complications post-stroke. Moreover, HRV trends can provide valuable insights into treatment effectiveness and individual recovery trajectories. We also discuss practical considerations for HRV measurement, including device selection, preprocessing strategies, and the need for methodological standardization. Finally, we outline interventional strategies that may enhance HRV and promote better recovery. Together, these findings support the integration of HRV analysis into stroke care as a non-invasive, accessible tool to guide prognosis and tailor interventions. Full article

Background/Objectives: Social cognition impairment is common in multiple sclerosis (MS) and could implicate the well-being of patients by promoting difficulties in social interactions. This study investigated the relationship between social cognition and quality of life (QoL) in patients with MS (PwMSs). Methods: In total, 100 PwMSs, enrolled as per distinct criteria, underwent neuropsychological assessment using validated questionnaires and scales. To assess QoL, Multiple Sclerosis Quality of Life-54 (MSQOL-54) questionnaires, both physical and mental, were utilized. The components of social cognition were evaluated using the Reading the Mind in the Eyes Test (RMET) and the Faux Pas task. The type of MS and years since diagnosis were also recorded. Results: The RMET score (β = 0.336; p = 0.001) and years since diagnosis (β = −0.225; p = 0.017) emerged as significant predictors of physical QoL, whereas the Faux Pas score did not significantly predict MSQOL-54_PHYSICAL scores (p = 0.451). Both Faux Pas (β = 0.247; p = 0.015) and RMET scores (β = 0.221; p = 0.028) showed a positive association with MSQOL-54_MENTAL scores. The years since diagnosis did not significantly predict the mental component of QoL (p = 0.635). Conclusions: Social cognition deficits are crucial for the social functioning of patients with MS, inevitably affecting both physical and mental aspects of QoL. Full article