Search Results (176)

Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder that frequently affects bulbar function, including feeding and swallowing. Although disease-modifying therapies have improved motor outcomes, little is known about the persistence of oromotor difficulties, particularly with regard to solid food intake. Objective: This study aimed to evaluate mastication and swallowing performance in children with SMA undergoing treatment, and to investigate the association between tongue strength and feeding efficiency. Methods: Twenty-two children with SMA types 1–3 were assessed using the Test of Masticating and Swallowing Solids in Children (TOMASS-C) and the Iowa Oral Performance Instrument (IOPI). Key TOMASS-C outcomes included the number of bites, chewing cycles, swallows, and total eating time. Tongue strength was measured in kilopascals. Results: Most participants showed deviations from age-specific normative values in at least one TOMASS-C parameter. Tongue strength was significantly lower than reference values in 86% of participants and correlated negatively with all TOMASS-C outcomes (p < 0.001). Children with weaker tongue pressure required more swallows, more chewing cycles, and longer eating times. Conclusions: Despite pharmacological treatment, children with SMA experience persistent difficulties in eating solid foods. Tongue strength may serve as a non-invasive biomarker for bulbar dysfunction and support dietary decision-making and therapeutic planning. Full article

Weakness, spasticity, and muscle shortening are common in children with cerebral palsy (CP), leading to deficits in gross motor, gait, and selective motor functions. While traditional assessments, such as the Gross Motor Function Measure (GMFM-66), instrumented gait analysis, and the Selective Control Assessment of the Lower Extremity (SCALE), are widely used, they are often limited by the resource-intensive nature of hospital-based evaluations. We employed cyclogram-based analysis, utilizing simple hip and knee joint kinematics to assess clinical measures, including GMFM-66, normalized gait speed, the gait deviation index (GDI), and the gait profile score (GPS). Principal component analysis was used to quantify the cyclogram shape characteristics. A total of 144 children with ambulatory spastic CP were included in the study. All the cyclogram parameters were significantly correlated with GMFM-66, gait speed, the GDI, and the sagittal plane subscore of the GPS for the hip and knee, with the swing phase area showing the strongest correlation. Regression models based on the swing phase area were used to estimate the GMFM-66 (R² = 0.301) and gait speed (R² = 0.484). The PC1/PC2 ratio showed a moderate correlation with selective motor control, as measured by the SCALE (R² = 0.320). These findings highlight the potential of hip–knee cyclogram parameters to be used as accessible digital biomarkers for evaluating motor control and gait function in children with bilateral spastic CP. Further prospective studies using wearable sensors, such as inertial measurement units, are warranted to validate and build upon these results. Full article

Background/Objectives: Spinal muscular atrophy (SMA) is a neuromuscular disorder frequently associated with progressive scoliosis requiring posterior spinal fusion (PSF). While Nusinersen offers significant clinical benefit, its intrathecal administration is challenging in patients with extensive spinal instrumentation and solid fusion. This study aimed to evaluate the safety, feasibility, and patient acceptance of lumbar laminectomy as a method to restore intrathecal access for repeated Nusinersen delivery in this population. Methods: A retrospective review was conducted in eleven patients with SMA who underwent lumbar laminectomy following prior PSF and confirmed radiographic fusion. Surgical data, injection outcomes, and patient-reported experiences were collected. A structured questionnaire assessed technical success, imaging requirements, sedation, functional response, and satisfaction. Results: Nine out of eleven patients (81.8%) successfully initiated intrathecal Nusinersen therapy through the laminectomy window, receiving a mean of 11.7 injections (range: 10–14). Imaging guidance was used in five cases; three required sedation or anesthesia. Intraoperative dural tears occurred in three patients and were managed without complications. Eight out of nine treated patients reported subjective motor improvement and expressed willingness to undergo the procedure again. No hardware revisions or major adverse events were observed during a mean follow-up of 48.8 months. Conclusions: Lumbar laminectomy is a viable and well-tolerated technique to establish intrathecal access in SMA patients with prior PSF. This approach enables sustained drug delivery and may remain clinically relevant as new intrathecal therapies emerge. Full article

Objective: This observational cross-sectional study aimed to comprehensively evaluate sensory–cognitive performance in children diagnosed with Attention-Deficit/Hyperactivity Disorder (ADHD), with a focus on auditory processing, visual–perceptual abilities, visual–motor integration, and oculomotor function. The study further examined how hyperactivity, age, and gender may influence these domains. Methods: A total of 70 non-medicated children with clinically diagnosed ADHD (mean age = $9.1\pm 2.4$ years; 67.1% male), all with normal visual acuity, were assessed using four standardized instruments: the Test of Auditory Processing Skills, Third Edition (TAPS-3), the Test of Visual Perceptual Skills, Fourth Edition (TVPS-4), the Beery–Buktenica Developmental Test of Visual–Motor Integration, Sixth Edition (VMI-6), and the Developmental Eye Movement (DEM) Test. Statistical analyses included one sample and independent samples t-tests, one-way ANOVA, and Pearson correlation coefficients. Results: Participants demonstrated significantly above-average performance in auditory processing (TAPS-3: $\mu =108.4$, $std=7.8$), average visual–perceptual abilities (TVPS-4: $\mu =100.9$, $std=7.2$), slightly below-average visual–motor integration (VMI-6: $\mu =97.1$, $std=9.0$), and marked deficits in oculomotor efficiency (DEM ratio: $\mu =87.3$, $std=18.1$). Statistically significant differences were observed across these domains (t-values ranging from 2.9 to 7.2, $p<0.01$). Children with hyperactive-impulsive presentations exhibited lower horizontal DEM scores ($\mu =73.4$, $std=12.3$) compared to inattentive counterparts ($\mu =82.9$, $std=16.2$; $p=0.009$). Age and sex influenced specific subtest scores, with boys and children aged 8–9 years achieving higher outcomes in word memory ($p=0.042$) and visual discrimination ($p=0.034$), respectively. Moderate correlations were identified between auditory and visual–perceptual skills ($r=0.32$, $p=0.007$), and between visual–perceptual and oculomotor performance ($r=0.25$, $p=0.035$). Conclusions: The findings from this sample reveal a distinct sensory–cognitive profile in children with ADHD, characterized by relatively preserved auditory processing and pronounced oculomotor deficits. These results underscore the value of a multimodal assessment protocol that includes oculomotor and visual efficiency evaluations. The conclusions pertain specifically to the cohort studied and should not be generalized to all populations with ADHD without further validation. Full article

The human neck is highly vulnerable in motor vehicle crashes, and cervical spine response data are essential to improve injury prediction tools (e.g., crash test dummies, human body models). This feasibility study aimed to implement the use of pressure sensors in whole-body post-mortem human subject (PMHS) cervical spine intervertebral discs (IVDs) to confirm the feasibility and repeatability of cervical IVD pressure response to biomechanic research. Two fresh frozen whole-body PMHSs were instrumented with miniature pressure sensors (Model 060S, Precision Measurement Company, Ann Arbor, MI, USA) at three cervical IVD levels (C3/C4, C5/C6, and C7/T1) using minimally invasive surgical insertion techniques. Each PMHS underwent three quasistatic motion test trials, and each trial included multiple head/neck motions (i.e., gentle traction, flexion/extension, lateral bending, axial rotation, and forced tension/compression). Results showed marked pressure differences between both the cervical level assessed and the motion undertaken as well as successful intra-subject repeatability between the three motion trials. This study demonstrates that changes in cervical IVD pressure are associated with motion events of the cervical spine. Cervical IVD response data could be utilized to assess and supplement the characterization of the head/neck complex motion, and data could facilitate the continued improvement of injury prediction tools. Full article

Background/Objectives: Cerebral visual impairment (CVI) is the leading cause of visual disability in children, resulting from damage to the brain’s visual processing pathways. Although ocular structures may be intact, functional vision, the use of vision in daily tasks, is often significantly affected. Cognitive Rehabilitation Therapy (CRT) has shown potential to enhance cognitive functions through neuroplasticity, yet its influence on functional vision remains underexplored. This exploratory pilot study aimed to examine whether CRT could improve functional vision in children with CVI by targeting underlying cognitive deficits. Methods: A single-arm pre–post intervention study was conducted with nine children aged 7–11 years diagnosed with CVI. Participants received 20 individualized CRT sessions over ten weeks, integrating principles from the Model of Visual Functioning. Functional vision was evaluated using the Gazi Functional Vision Assessment Instrument (GFVAI), while cognitive improvements were measured with the Dynamic Occupational Therapy Cognitive Assessment for Children (DOTCA-Ch) and the Motor-Free Visual Perception Test-4 (MVPT-4). Data were analyzed using Wilcoxon signed-rank tests. Results: Statistically significant improvements were observed in GFVAI domains such as light sensitivity, distant visual field, focusing, maintaining focus, and obstacle avoidance (p < 0.05 to p < 0.01). Qualitative analysis also indicated a shift from low/moderate to good/very good performance in most functional vision categories. Cognitive domains, including visual-motor organization, thinking operations, and spatial perception, showed significant gains. Conclusions: CRT may support improvements in functional vision by enhancing cognitive processes in children with CVI. This therapist-led approach is feasible, adaptable, and holds promise for widespread application in pediatric rehabilitation. Full article

Background/Objectives: Occupational therapy (OT) plays a crucial role in addressing functional limitations and promoting independence in Parkinson’s disease (PD) patients. OT interventions target motor skills, daily activities, and engagement in meaningful tasks. Telehealth, the remote delivery of healthcare services, has expanded access to rehabilitation, including OT for PD. While several studies have examined the benefits of online OT, a comprehensive assessment of its impact on functional outcomes and quality of life (QoL) is needed. This review aimed to evaluate the effects of online OT interventions on functional outcomes and QoL of patients with PD. Methods: This review employed a systematized approach, guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) framework, though it did not constitute a full systematic review or meta-analysis. A comprehensive search was conducted across PubMed, Web of Science, Scopus, and Embase databases between August 2023 and September 2024. The search targeted randomized controlled trials (RCTs) investigating telerehabilitation interventions in OT for individuals with PD. Studies were excluded if they were not published in English, did not employ an RCT design, or lacked a focus on telerehabilitation within the scope of occupational therapy for PD. Additionally, systematic reviews, meta-analyses, qualitative studies, and studies without measurable outcomes were excluded. Nine studies met the inclusion criteria, with four involving occupational therapists directly and five evaluating interventions within the scope of OT practice. Results: The primary outcomes of this review focused on mobility improvements in PD patients, assessed through gait metrics such as gait speed, stride length, and gait variability. Secondary outcomes evaluated the impact of telerehabilitation on QoL, using tools such as the Parkinson’s Disease Questionnaire (PDQ-39) and other disease-specific instruments. The findings demonstrated that online OT interventions significantly improved motor skills, cognitive function, and activities of daily living in PD patients. Furthermore, these interventions enhanced overall well-being and QoL. The remote format fostered sustained engagement and adherence to therapy, contributing to better long-term outcomes. Conclusions: Online OT interventions show promising potential for improving functional outcomes and QoL in PD patients. These findings underscore the potential of telehealth to expand access to OT services, thereby enhancing long-term rehabilitation outcomes for this population. Full article

Background: Idiopathic normal pressure hydrocephalus (iNPH) is a progressive neurological disorder characterized by cognitive decline, gait disturbances, and urinary incontinence. Surgical interventions such as ventriculoperitoneal shunt (VPS) and endoscopic third ventriculostomy (ETV) are the primary treatment options. While VPS is the standard of care, ETV offers a minimally invasive alternative with potentially fewer complications. However, comparative evidence regarding their impact on cognitive, motor, and structural outcomes remains limited. This study, titled ENVENTOR-iNPH (endoscopic ventriculostomy versus shunt on neuropsychological and motor performance in patients with iNPH), aims to address this gap through a rigorously designed comparative protocol. Methods: This protocol is designed as a multicenter, randomized, controlled trial (ENVENTOR-iNPH) to compare the effects of ETV and VPS in patients diagnosed with iNPH. The study will enroll 100 patients aged 60 years or older, randomly assigned to undergo ETV (n = 50) or VPS (n = 50). Preoperative and postoperative evaluations will include comprehensive cognitive and motor assessments, standardized quality-of-life instruments, and advanced neuroimaging techniques such as MRI with flowmetry and diffusion tensor imaging (DTI). Functional outcomes will also be evaluated using navigated transcranial magnetic stimulation (nTMS) and wearable motion analysis systems. The objective of this study is to compare the efficacy and safety of ETV versus VPS in restoring cognitive and motor performance in patients with iNPH. Results: Primary outcomes include cognitive and motor function improvements. Secondary endpoints are surgical complications, hospital stay duration, and changes in quality of life. Neuroimaging will assess changes in white matter integrity and cerebrospinal fluid dynamics, while nTMS will provide insights into neuroplasticity and motor pathway recovery. ETV is hypothesized to demonstrate clinical outcomes comparable or superior to VPS, particularly in terms of complication reduction and hospital recovery metrics. Conclusions: The ENVENTOR-iNPH protocol establishes the framework for a comprehensive, multicenter study comparing ETV and VPS in iNPH patients. The findings from this initial study will inform the design of larger-scale multicenter trials, guide clinical decision making, and potentially position ETV as a preferred treatment option for eligible patients. Full article

Background: Lafora disease (LD) is an ultra-rare and fatal neurodegenerative disorder with limited therapeutic options. Current treatments primarily address symptoms, with modest efficacy in halting disease progression, thus highlighting the urgent need for novel therapeutic approaches. Gene therapy, antisense oligonucleotides, and recombinant enzymes have recently been, and still are, under investigation. Drug repurposing may offer a promising approach to identify new, possibly effective, therapies. Methods: This study aims to investigate the conditions for repurposing empagliflozin, an SGLT2 (sodium/glucose cotransporter-2) inhibitor, as a potential treatment for LD and to establish a clinical protocol. Clinical phase: This 12-month prospective observational study will assess the safety and clinical efficacy of empagliflozin in two patients with early to intermediate LD stage. The primary endpoints will include changes in the severity of epilepsy and cognitive function, while the secondary endpoints will assess motor function, global function, and autonomy. Multiple clinical and instrumental evaluations (including MRI and PET with ¹⁸F-fluorodeoxyglucose) will be performed before and during treatment. Safety monitoring will include regular clinical assessments and reports of adverse events. Preclinical phase: In silico studies (using both molecular docking calculations and reverse ligand-based screening) and in vitro cell-based assays will allow us to investigate the effects of empagliflozin (and other gliflozins) on some key targets likely implicated in LD pathogenesis, such as GLUT1, GLUT3, glycogen synthase (hGYS), and glycogen phosphorylase (GP), as suggested in the literature and digital platforms for in silico target fishing. Results: The expected outcome of this study is twofold, i.e., (i) assessing the safety and tolerability of empagliflozin in LD patients and (ii) gathering preliminary data on its potential efficacy in improving clinical and neurologic features. Additionally, the in silico and in vitro studies may provide new insights into the mechanisms through which empagliflozin may exert its therapeutic effects in LD. Conclusion: The findings of this study are expected to provide evidence in support of the repurposing of empagliflozin for the treatment of LD. Full article

Background/Objectives: Cognitive impairment (CI) in Parkinson’s disease (PD) is a major burden and significantly affects patients’ quality of life. Previous studies found that older age at onset and presence of the akinetic–rigid (AR) subtype are associated with an increased likelihood of CI in PD. The present study aimed to assess factors that are related to the development of CI in PD. Methods: Eighty-three PD patients were consecutively recruited. Demographic information, clinical details, Montreal cognitive assessment (MoCA), Movement Disorder Society Unified Parkinson’s Disease Rating Scale (MDS-UPDRS), walking speed, and instrumental activity of daily living (IADL) were assessed. Resting motor threshold (rMT), was also assessed for subgroup of patients with versus without cognitive impairment. Results: According to the MoCA cut-off score of 26, 45 had PD without CI (PD-NCI) (54.22%) and 38 cases (45.78%) had PD with CI (PD-CI). The age and age at onset were significantly older in the PD-CI group (p = 0.006 and 0.018, respectively). The patients were reclassified into AR and tremor-dominant (TR) phenotype. PD-CI patients were more likely to have the AR (81.6%). Walking speed, MDS-UPDRS score, and IADL scores were significantly worse in PD-CI than in PD-NCI. Stepwise linear regression analysis of risk factors associated CI revealed that higher MDS-UPDRS scores, later age of onset, and higher rMT values were considered risk factors for developing CI. Conclusions: Higher UPDRS score, later age of onset, and higher rMT values were considered as risk factors associated CI in PD patients and provide valuable insights for further investigation and potential clinical considerations. Full article

Background/Objectives: Instrumental Activities of Daily Living (IADL) are the key indicators of the autonomy and functional ability in older adults with neurocognitive disorders (NCDs). However, the specific predictors of IADL performance across the NCD spectrum remains insufficiently characterized. This study aimed to identify the cognitive, motor, and caregiver-related determinants of the IADL in individuals with minor and major NCDs. Methods: A cross-sectional study was conducted involving 117 participants referred from a university-based dementia clinic. Standardized tools were administered to evaluate their IADL performance (Lawton IADL Scale), cognition [Addenbrooke’s Cognitive Examination III (ACE-III)], Functional Cognitive Assessment Scale (FUCAS)], motor functions, balance, and mobility [Tinetti Test, Timed Up and Go (TUG)], emotional status [Geriatric Depression Scale (GDS)], neuropsychiatric symptoms [Neuropsychiatric Inventory (NPI)], and caregiver burden [Zarit Burden Interview (ZBI)]. Multiple regression analyses were performed to identify the significant predictors of IADL performance. Results: In the total sample (n = 117), the IADL performance was significantly predicted via ACE-III, FUCAS, and Tinetti-balance (adjusted R² = 0.729). In the minor NCD group (n = 41), the significant predictors included sex, FUCAS, GDS, Tinetti-balance, and TUG (adjusted R² = 0.725). In the major NCD group (n = 76), ACE-III, FUCAS, and Tinetti-balance remained the significant predictors (adjusted R² = 0.634). Female sex and a worse profile on the other variables were associated with lower IADL scores. Conclusions: Global cognitive decline, executive dysfunction in everyday problem-solving situations, and balance impairment are the key determinants of IADL performance across both minor and major NCDs. Female sex and depressive symptoms further predicted the IADL performance in the minor NCD group. These findings highlight the need for multidisciplinary assessment and intervention strategies to promote health and autonomy and preserve the functional independence in older adults with NCDs. Full article

Anosognosia for hemiplegia is a complex, multifaceted phenomenon. Due to the various different forms in which it manifests and the few tools available to treat it, it can create difficulties for both clinicians and researchers. Since the first definition established by Babinski, a great deal of research has been performed and has shown that this deficit in motor awareness involves not only motor aspects but also other, non-motor dimensions. These dimensions all need to be taken into consideration during the process of diagnosis, in particular when planning a rehabilitation programme. This article reviews the main instruments currently available for the diagnosis of anosognosia for hemiplegia. After a description of the best tests to assess motor dimensions (such as explicit and implicit anosognosia, emergent awareness and awareness for daily life activities), non-motor dimensions are analysed. The literature on the subject provides ideas and tools for the evaluation of cognitive (i.e., motor imagery), emotional and social (i.e., theory of mind) aspects. Finally, the importance of differential diagnoses in relation to disorders often associated with anosognosia is discussed. Full article

This paper addresses public acceptance of a proposed sub-regional, hydrogen–electric, aviation service reporting initial empirical evidence from the UK HEART project. The objective was to assess public acceptance of a wide range of service features, including hydrogen power, electric motors, and pilot assistance automation, in the context of an ongoing realisable commercial plan. Both qualitative and quantitative data collection instruments were leveraged, including focus groups and stakeholder interviews, as well as the questionnaire-based Scottish National survey, coupled with the advanced discrete-choice modelling of the data. The results from each method are presented, compared, and contrasted, focusing on the strength, reliability, and validity of the data to generate insights into public acceptance. The findings suggest that public concerns were tempered by an incomplete understanding of the technology but were interpretable in terms of key service elements. Respondents’ concerns and opinions centred around hydrogen as a fuel, single-pilot automation, safety and security, disability and inclusion, environmental impact, and the perceived usefulness of novel service features such as terminal design, automation, and sustainability. The latter findings were interpreted under a joint framework of technology acceptance theory and the diffusion of innovation. From this, we drew key insights, which were presented alongside a discussion of the results. Full article

This study details the design and testing of a custom test rig for evaluating the performance of both open and shrouded rotors. The rig includes a two-axis load cell that is directly connected to the rotor to measure the rotor thrust separated from the total thrust when testing shrouded rotors and ensure accurate torque measurements, independent of external structural influences. Moreover, a main load cell is used to measure the total thrust for both configurations (open and shrouded rotor), as it is connected to the entire setup. Rotor RPM is monitored by capturing the voltage frequency from the BLDC motor, controlled using a Pololu Maestro Controller through the electronic speed controller. A shunt resistance is used to calculate the current through the electric Brushless Direct Current (BLDC) motor and by measuring the voltage, the electric power is calculated. By combining both mechanical and electrical power measurements, the BLDC motor’s efficiency is calculated. Automated data collection is conducted using National Instruments DAQ systems, with averaged measurements of thrust, torque, RPM, current, and voltage. Two rotors are tested to obtain performance data for both open and shrouded configurations. Additionally, a computational study is carried out to account for the aerodynamic effects of the rig’s structural elements. Uncertainty analysis is employed to assess the reliability of the experimental results by quantifying the numerical errors associated with both random and systematic errors encountered during the rotor’s performance evaluation. Full article

Juvenile idiopathic arthritis is an inflammatory disease, and children with lower limb involvement have impaired balance compared with healthy peers. The objective of this review was to identify balance instruments used in clinical practice for balance testing in children with juvenile idiopathic arthritis. Three independent reviewers searched the PubMed/Medline, Web of Science, Cochrane, Scopus, and Science Direct databases to identify relevant studies published before 3 March 2025. Five studies were included in the review. Two studies investigated the use of specific tests for balance assessment in children with juvenile idiopathic arthritis (the Bruininks–Oseretsky Test of Motor Proficiency, Second Edition Short Form for motor skills, including balance, the Functional Reach Test for static balance, and the Flamingo Balance Test for postural balance). Three studies used balance testing systems (the S3-Check balance board, the FreeMed posturography system, and the Biodex Balance System). Patients who performed physical exercise programs (including clinical Pilates, strengthening exercises, proprioceptive balance exercises, or home exercises) had significant balance improvements. There are various ways to assess the balance in children suffering from juvenile idiopathic arthritis. None of the review studies used both the specific tests and testing systems. Future research targeting the evaluation of static and dynamic balance through combined tests and equipment is needed. Physical exercise should be an integral part of managing patients suffering from juvenile idiopathic arthritis, as postural control is linked to the overall functioning of this category of patients, who should be involved in recreational activities. Full article