Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 90
Filtrar
1.
R Soc Open Sci ; 10(12): 230736, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38094273

RESUMO

This paper addresses the problem of robust fault estimation for multi-agent systems (MASs) under communication constraints. Taking into account the possible data packet loss (DPL) in the information interaction of each subsystem, MASs are remodelled as switching systems by introducing a variable sampling strategy. Then, using the local information among agents, a novel intermediate observer design method based on switching scheme is proposed to estimate faults of MASs. Combining Lyapunov's criterion and linear matrix inequality, sufficient conditions for the intermediate observer to be exponentially stable and have H∞ performance against bounded disturbances and the DPL are given. Finally, some simulations are provided to verify the effectiveness of the proposed method.

2.
Pain Med ; 24(Suppl 1): S48-S60, 2023 08 04.
Artigo em Inglês | MEDLINE | ID: mdl-36315101

RESUMO

OBJECTIVE: Biomechanics represents the common final output through which all biopsychosocial constructs of back pain must pass, making it a rich target for phenotyping. To exploit this feature, several sites within the NIH Back Pain Consortium (BACPAC) have developed biomechanics measurement and phenotyping tools. The overall aims of this article were to: 1) provide a narrative review of biomechanics as a phenotyping tool; 2) describe the diverse array of tools and outcome measures that exist within BACPAC; and 3) highlight how leveraging these technologies with the other data collected within BACPAC could elucidate the relationship between biomechanics and other metrics used to characterize low back pain (LBP). METHODS: The narrative review highlights how biomechanical outcomes can discriminate between those with and without LBP, as well as among levels of severity of LBP. It also addresses how biomechanical outcomes track with functional improvements in LBP. Additionally, we present the clinical use case for biomechanical outcome measures that can be met via emerging technologies. RESULTS: To answer the need for measuring biomechanical performance, our "Results" section describes the spectrum of technologies that have been developed and are being used within BACPAC. CONCLUSION AND FUTURE DIRECTIONS: The outcome measures collected by these technologies will be an integral part of longitudinal and cross-sectional studies conducted in BACPAC. Linking these measures with other biopsychosocial data collected within BACPAC increases our potential to use biomechanics as a tool for understanding the mechanisms of LBP, phenotyping unique LBP subgroups, and matching these individuals with an appropriate treatment paradigm.


Assuntos
Dor Lombar , Humanos , Dor Lombar/diagnóstico , Estudos Transversais , Fenômenos Biomecânicos , Literatura de Revisão como Assunto
3.
Sensors (Basel) ; 22(23)2022 Nov 29.
Artigo em Inglês | MEDLINE | ID: mdl-36502003

RESUMO

Mobility impairments are a common symptom of age-related degenerative diseases. Gait features can discriminate those with mobility disorders from healthy individuals, yet phenotyping specific pathologies remains challenging. This study aims to identify if gait parameters derived from two foot-mounted inertial measurement units (IMU) during the 6 min walk test (6MWT) can phenotype mobility impairment from different pathologies (Lumbar spinal stenosis (LSS)-neurogenic diseases, and knee osteoarthritis (KOA)-structural joint disease). Bilateral foot-mounted IMU data during the 6MWT were collected from patients with LSS and KOA and matched healthy controls (N = 30, 10 for each group). Eleven gait parameters representing four domains (pace, rhythm, asymmetry, variability) were derived for each minute of the 6MWT. In the entire 6MWT, gait parameters in all four domains distinguished between controls and both disease groups; however, the disease groups demonstrated no statistical differences, with a trend toward higher stride length variability in the LSS group (p = 0.057). Additional minute-by-minute comparisons identified stride length variability as a statistically significant marker between disease groups during the middle portion of 6WMT (3rd min: p ≤ 0.05; 4th min: p = 0.06). These findings demonstrate that gait variability measures are a potential biomarker to phenotype mobility impairment from different pathologies. Increased gait variability indicates loss of gait rhythmicity, a common feature in neurologic impairment of locomotor control, thus reflecting the underlying mechanism for the gait impairment in LSS. Findings from this work also identify the middle portion of the 6MWT as a potential window to detect subtle gait differences between individuals with different origins of gait impairment.


Assuntos
Marcha , Osteoartrite do Joelho , Humanos , Teste de Caminhada , , Extremidade Inferior
4.
Spine J ; 22(4): 629-634, 2022 04.
Artigo em Inglês | MEDLINE | ID: mdl-34798245

RESUMO

BACKGROUND CONTEXT: Physical inactivity has been described as both a cause and a consequence of low back pain (LBP) largely based on self-reported measures of daily activity. A better understanding of the connections between routine physical activity and LBP may improve LBP interventions. PURPOSE: In this study, we aim to objectively characterize the free-living physical activity of people with low back pain in comparison to healthy controls using accelerometers, and we aim to derive a set of LBP-specific physical activity minutes thresholds that may be used as targets for future physical activity interventions. STUDY DESIGN: Cross-sectional. PATIENT SAMPLE: A total of 22 low back pain patients and 155 controls. OUTCOME MEASURES: Accelerometry derived physical activity measures. METHODS: Twenty-two people with LBP were compared to 155 age and gender-matched healthy controls. All subjects wore an ActiGraph accelerometer on the right hip for 7 consecutive days. Accelerometry-based physical activity features (count-per-minute CPM) were derived using Freedson's intervals and physical performance intervals. A random forest machine learning classifier was trained to classify LBP status using a leave-one-out cross-validation procedure. An interpretation algorithm, the SHapley Additive exPlanations (SHAP) algorithm was subsequently applied to assess the feature importance and to establish LBP-specific physical activity thresholds. RESULTS: The LBP group reported mild to moderate disability (average ODI=18.5). The random forest classifier identified a set of 8 features (digital biomarkers) that achieved 88.1% accuracy for distinguishing LBP from controls. All of the top distinguishing features were related to differences in the sedentary and light activity ranges (<800 CPM), whereas moderate to vigorous physical activity was not discriminative. In addition, we identified and ranked physical activity thresholds that are associated with LBP prediction that can be used in future studies of physical activity interventions for LBP. CONCLUSIONS: We describe a set of physical activity features from accelerometry data associated with LBP. All of the discriminating features were derived from the sedentary and light activity range. We also identified specific activity intensity minutes thresholds that distinguished LBP subjects from healthy controls. Future examination on the digital markers and thresholds identified through this work can be used to improve physical activity interventions for LBP treatment and prevention by allowing the development of LBP-specific physical activity guidelines.


Assuntos
Dor Lombar , Comportamento Sedentário , Estudos Transversais , Exercício Físico , Humanos , Dor Lombar/diagnóstico , Projetos Piloto
5.
Arch Rehabil Res Clin Transl ; 3(3): 100147, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34589697

RESUMO

OBJECTIVE: To evaluate the association of self-reported physical function with subjective and objective measures as well as temporospatial gait features in lumbar spinal stenosis (LSS). DESIGN: Cross-sectional pilot study. SETTING: Outpatient multispecialty clinic. PARTICIPANTS: Participants with LSS and matched controls without LSS (n=10 per group; N=20). INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Self-reported physical function (36-Item Short Form Health Survey [SF-36] physical functioning domain), Oswestry Disability Index, Swiss Spinal Stenosis Questionnaire, the Neurogenic Claudication Outcome Score, and inertia measurement unit (IMU)-derived temporospatial gait features. RESULTS: Higher self-reported physical function scores (SF-36 physical functioning) correlated with lower disability ratings, neurogenic claudication, and symptom severity ratings in patients with LSS (P<.05). Compared with controls without LSS, patients with LSS have lower scores on physical capacity measures (median total distance traveled on 6-minute walk test: controls 505 m vs LSS 316 m; median total distance traveled on self-paced walking test: controls 718 m vs LSS 174 m). Observed differences in IMU-derived gait features, physical capacity measures, disability ratings, and neurogenic claudication scores between populations with and without LSS were statistically significant. CONCLUSIONS: Further evaluation of the association of IMU-derived temporospatial gait with self-reported physical function, pain related-disability, neurogenic claudication, and spinal stenosis symptom severity score in LSS would help clarify their role in tracking LSS outcomes.

6.
Gait Posture ; 80: 96-100, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32497982

RESUMO

BACKGROUND: Functional ambulation limitations are features of lumbar spinal stenosis (LSS) and knee osteoarthritis (OA). With numerous validated walking assessment protocols and a vast number of spatiotemporal gait parameters available from sensor-based assessment, there is a critical need for selection of appropriate test protocols and variables for research and clinical applications. RESEARCH QUESTION: In patients with knee OA and LSS, what are the best sensor-derived gait parameters and the most suitable clinical walking test to discriminate between these patient populations and controls? METHODS: We collected foot-mounted inertial measurement unit (IMU) data during three walking tests (fast-paced walk test-FPWT, 6-min walk test- 6MWT, self-paced walk test - SPWT) for subjects with LSS, knee OA and matched controls (N = 10 for each group). Spatiotemporal gait characteristics were extracted and pairwise compared (Omega partial squared - ωp2) between patients and controls. RESULTS: We found that normal paced walking tests (6MWT, SPWT) are better suited for distinguishing gait characteristics between patients and controls. Among the sensor-based gait parameters, stance and double support phase timing were identified as the best gait characteristics for the OA population discrimination, whereas foot flat ratio, gait speed, stride length and cadence were identified as the best gait characteristics for the LSS population discrimination. SIGNIFICANCE: These findings provide guidance on the selection of sensor-derived gait parameters and clinical walking tests to detect alterations in mobility for people with LSS and knee OA.


Assuntos
Análise da Marcha , Osteoartrite do Joelho/diagnóstico , Estenose Espinal/diagnóstico , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/fisiopatologia , Análise Espaço-Temporal , Estenose Espinal/fisiopatologia , Teste de Caminhada
7.
Spine J ; 20(11): 1826-1831, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32534134

RESUMO

BACKGROUND CONTEXT: Many different pain and functional outcomes are used to determine progress after surgical intervention for lumbar spinal stenosis (LSS); it is unknown how these different outcomes correlate, or whether timing of pain measurement is important. PURPOSE: The goal was to determine whether method and timing of pain measurement is important in the context of LSS surgical outcomes. STUDY DESIGN/SETTING: Cohort study. PATIENT SAMPLE: LSS patients (N=21). OUTCOME MEASURES: Self-report measures. METHODS: Each patient completed the 36-item Short Form, Oswestry Disability Index, and Swiss Spinal Stenosis Questionnaire 1 week presurgery and 6 months postsurgery. Objective function was measured using the Self-Paced Walking Test (SPWT). Low back and leg pain were assessed by visual analogue scale both immediately before the SPWT (prewalking pain) and at the symptom-limited endpoint (provoked pain). Pain was also assessed before and after surgery using the pain subscales of 36-item Short Form pain, Oswestry Disability Index, and Swiss Spinal Stenosis Questionnaire. RESULTS: Patients averaged 65.3 years of age with 15 being female. After surgery, all outcome measures improved significantly. Postwalking pain (provoked pain) demonstrating a strong relationship with objectively measured function (SPWT). Pain (visual analogue scale prewalk and postwalk) showed little correlation with reported changes in disability, general health or physical function. CONCLUSIONS: Our results suggest that for patients with LSS, the context of the pain measurement matters, and it is important to measure pain after walking (provoked pain). Results also suggest that when examining the relationship between pain and function, objective measures of function are preferable (eg, a walking test). Finally, given the lack of association between measures of pain, it is important to understand that each pain measure is addressing a different pain construct. Therefore, when conducting outcomes studies, it is imperative to compare the exact same pain measures across time points.


Assuntos
Vértebras Lombares , Estenose Espinal , Estudos de Coortes , Constrição Patológica , Feminino , Humanos , Vértebras Lombares/cirurgia , Medição da Dor , Estenose Espinal/cirurgia
8.
Arch Phys Med Rehabil ; 101(3): 512-523, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31669297

RESUMO

OBJECTIVE: To systematically review and quantitatively synthesize the existing evidence of motor learning in persons with multiple sclerosis (PwMS). DATA SOURCES: PubMed, Cumulative Index to Nursing and Allied Health Literature, and Web of Science were searched using the following terms: multiple sclerosis, task learning, motor learning, skill learning, performance learning. STUDY SELECTION: Studies had to include PwMS with a main outcome being motor learning, be published in peer-reviewed journals, and be written in English. The search yielded 68 results, and the inclusion criteria were met by 17 studies. DATA EXTRACTION: Basic descriptors of each study, study protocol, and motor learning measures were extracted. The Grading of Recommendations Assessment, Development, and Evaluation approach revealed the quality of evidence was low with a high risk of bias. Meta-analysis was conducted to determine the difference in implicit and explicit learning in PwMS and controls without multiple sclerosis. DATA SYNTHESIS: Studies scored on average 15.9 of 18 for quality assessment. PwMS were able to learn functional mobility and upper limb manipulation motor skills as indicated by short-term acquisition, transfer, and retention. Implicit learning conditions from the meta-analysis showed that PwMS were able to learn at a similar rate to controls without multiple sclerosis (P<.001), yet explicit learning conditions did not display a significant rate of learning (P=.133). CONCLUSIONS: While this review indicated that PwMS are capable of motor learning, several knowledge gaps still exist. Future research should focus on using higher-quality evidence to understand motor learning in PwMS and translate the findings to rehabilitation and activities of daily living.


Assuntos
Esclerose Múltipla/fisiopatologia , Esclerose Múltipla/reabilitação , Desempenho Psicomotor , Humanos
9.
Sci Rep ; 9(1): 16154, 2019 11 06.
Artigo em Inglês | MEDLINE | ID: mdl-31695127

RESUMO

Numerous postural sway metrics have been shown to be sensitive to balance impairment and fall risk in individuals with MS. Yet, there are no guidelines concerning the most appropriate postural sway metrics to monitor impairment. This investigation implemented a machine learning approach to assess the accuracy and feature importance of various postural sway metrics to differentiate individuals with MS from healthy controls as a function of physiological fall risk. 153 participants (50 controls and 103 individuals with MS) underwent a static posturography assessment and a physiological fall risk assessment. Participants were further classified into four subgroups based on fall risk: controls, low-risk MS (n = 34), moderate-risk MS (n = 27), high-risk MS (n = 42). Twenty common sway metrics were derived following standard procedures and subsequently used to train a machine learning algorithm (random forest - RF, with 10-fold cross validation) to predict individuals' fall risk grouping. The sway-metric based RF classifier had high accuracy in discriminating controls from MS individuals (>86%). Sway sample entropy was identified as the strongest feature for classification of low-risk MS individuals from healthy controls. Whereas for all other comparisons, mediolateral sway amplitude was identified as the strongest predictor for fall risk groupings.


Assuntos
Acidentes por Quedas , Algoritmos , Aprendizado de Máquina , Esclerose Múltipla/fisiopatologia , Equilíbrio Postural/fisiologia , Transtornos de Sensação/etiologia , Acidentes por Quedas/prevenção & controle , Adulto , Idoso , Entropia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose Múltipla/complicações , Medição de Risco , Transtornos de Sensação/diagnóstico , Transtornos de Sensação/fisiopatologia
10.
Biomed Res Int ; 2019: 6804614, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31143775

RESUMO

PURPOSE: To examine head impact incidence and head acceleration during experimentally induced falls as a function of age. METHODS: 15 young adults (21.2±2.7) and 10 older adults (61.9±4.3 years) underwent 6 experimentally induced sideways falls. Participants fell sideways onto a 20cm crash pad. The number of head impacts was tabulated from video recordings and head acceleration was calculated from motion capture data. A total of 147 falls were analyzed. RESULTS: The young group underwent 88 falls, in which 11.4% resulted in head impact. The older group underwent 59 falls, in which 34.5% resulted in head impact. A proportion analysis revealed older adults had a significantly greater proportion of head impacts than young adults (X 2(1) = 11.445, p = 0.001). A two-way ANOVA only revealed a main effect of head impact on acceleration (F(1,142) = 54.342, p<0.001). CONCLUSION: The older adults experienced a greater proportion of head impacts during sideways falls. Head impact resulted in greater head acceleration compared to no head impact. Collectively, this data highlights the possibility that age-related neuromuscular changes to head control may result in elevated risk of fall-related TBIs. Future research examining mechanisms underlying increases in fall-related head impact is warranted.


Assuntos
Acidentes por Quedas , Aceleração , Fatores Etários , Feminino , Cabeça , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
11.
Sensors (Basel) ; 19(9)2019 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-31083514

RESUMO

Functional mobility assessments (i.e., Timed Up and Go) are commonly used clinical tools for mobility and fall risk screening in older adults. In this work, we proposed a new Mixed Reality (MR)-based assessment that utilized a Microsoft HoloLensTM headset to automatically lead and track the performance of functional mobility tests, and subsequently evaluated its validity in comparison with reference inertial sensors. Twenty-two healthy adults (10 older and 12 young adults) participated in this study. An automated functional mobility assessment app was developed, based on the HoloLens platform. The mobility performance was recorded with the headset built-in sensor and reference inertial sensor (Opal, APDM) taped on the headset and lower back. The results indicate that the vertical kinematic measurements by HoloLens were in good agreement with the reference sensor (Normalized RMSE ~ 10%, except for cases where the inertial sensor drift correction was not viable). Additionally, the HoloLens-based test completion time was in perfect agreement with the clinical standard stopwatch measure. Overall, our preliminary investigation indicates that it is possible to use an MR headset to automatically guide users (without severe mobility deficit) to complete common mobility tests, and this approach has the potential to provide an objective and efficient sensor-based mobility assessment that does not require any direct research/clinical oversight.

12.
Arch Gerontol Geriatr ; 82: 94-99, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30735851

RESUMO

Falls are a major health problem for older adults with significant physical and psychological consequences. The first step of successful fall prevention is to identify those at risk of falling. Recent technology advancement offers the possibility of objective, lowcost and self-guided fall risk assessment. The present work evaluated the preliminary validity and usability of a Kinect camera-based selfinitiated fall risk assessment system in a hospital setting. A convenience sample of 29 female participants (77.5 ± 7.9 years old) enrolled in this study. This low-cost self-guided system included a Kinect depth-sensing camera, a PC-based computer, and custom-built software. An onscreen Fall Risk Assessment Avatar (FRAAn) utilizing visual and verbal instructions led participants through a fall risk assessment consisting of self-report measures and clinically validated balance and mobility tests. Participants also completed clinical fall risk evaluation (Timed-Up and Go, and Berg Balance Scale) led by a researcher. User experience was evaluated by the System Usability Scale (SUS). Results indicate that FRAAn-based outcome measures (postural sway metrics, and sit-to-stand speed) were highly correlated with clinical fall risk measures, and were able to differentiate individuals with increased fall risk. Additionally, 83% participants reported high usability (SUS > 80), indicating the system is well received among older users. Overall, our results indicate that the FRAAn system has promise for providing a self-guided fall risk assessment, and is well received by older users. This affordable, portable and self-guided system has potential to facilitate objective fall risk assessment in older adults in various settings.


Assuntos
Acidentes por Quedas/prevenção & controle , Avaliação Geriátrica/métodos , Medição de Risco/métodos , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Autorrelato
13.
J Biomech ; 83: 291-297, 2019 01 23.
Artigo em Inglês | MEDLINE | ID: mdl-30553440

RESUMO

Falls are common and potentially disastrous for older adults. A novel approach that could augment current fall prevention procedures is to teach older adults movement strategies to reduce the risk of injury. The purpose of the study was to determine whether older adults can learn a movement strategy ("tuck-and-roll") that reduces fall impact severity. Learning was quantified with short-term acquisition, bilateral transfer and 1-week-retention. 14 healthy older individuals participated (63.9 ±â€¯5.6 years) in the investigation. Participants were randomly assigned into either training group (n = 7) or active control group (n = 7). All participants performed standardized sideway falls at baseline, immediately post intervention and 1-week-retention tests. During the falling assessments, kinetic and kinematic impact severity parameters were measured. The results for short-term learning revealed that the training group showed greater reduction in hip impact force (33% reduction) than the control group (16% reduction). Furthermore, there was partial bilateral transfer effect and 1-week retention observed in the training group. The observations provide preliminary evidence that teaching tuck-and-roll strategy to older adults has potential effect. The observations provide preliminary evidence that older adults might reduce impact severity utilizing tuck-and-roll strategy during unpredictably-timed sideway falls.


Assuntos
Acidentes por Quedas , Fenômenos Mecânicos , Equilíbrio Postural , Idoso , Fenômenos Biomecânicos , Feminino , Humanos , Cinética , Masculino , Pessoa de Meia-Idade , Movimento
14.
Expert Rev Neurother ; 18(11): 887-898, 2018 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-30301382

RESUMO

INTRODUCTION: Mobility and balance impairments in patients with multiple sclerosis (MS) are major factors for decreased quality of life. Novel sensing technologies have great potential to efficiently capture subtle changes in mobility and balance performance, and thus improve current practices by providing an easy-to-implement, objective, and continuous functional tracking in MS population. Areas covered: This review details the collective findings of novel technology utilization in mobility and balance tracking in patients with MS. Thirty-three were systematically identified and included in this review. Pertinent methodological features (participant demographics, sensing technology, study aims, functional assessment protocols, and outcome measures) were extracted from each article. The construct validity, reliability, clinical relevance, and discriminative ability of sensor-based assessment in the MS population were summarized. Expert commentary: Sensor-based balance and mobility assessment are valid in comparison with reference standard techniques and are reliable to measure performance in the MS population. Sensor-based measures are also associated with validated clinical outcomes and are sensitive to functional deficits in individuals with MS. Such technologies may greatly improve the likelihood of detecting mobility and balance dysfunctions in real-world environments, thus allowing healthcare professionals to monitor interventions and manage disease progression precisely and efficiently Abbreviations: PwMS: Patients with Multiple Sclerosis; BBS: Berg Balance Scale; DGI: Dynamic Gait Index; ABC: Activity-specific Balance Confidence; T25FW: Timed 25 Foot Walk; 6MWT: 6 minute walk test; TUG: Timed Up and Go test; EO: Eyes Open; EC: Eyes Closed; ICC: Intraclass Correlation Coefficient; EDSS: Expanded Disability Status Scale; MFIS: Modified Fatigue Impact Scale; MSWS: Multiple Sclerosis Walking Scale; MSIS: Mutliple Sclerosis Impact Scale; PPA: Physiological Profile Assessment; HC: Healthy Control; AP: Anterior-posterior direction; ML: Mediolateral direction.

15.
Mol Brain ; 11(1): 59, 2018 10 16.
Artigo em Inglês | MEDLINE | ID: mdl-30326925

RESUMO

Following publication of the original article [1], the authors reported that one of the authors' names is spelled incorrectly.

16.
Mol Brain ; 11(1): 48, 2018 09 05.
Artigo em Inglês | MEDLINE | ID: mdl-30185235

RESUMO

Pediatric refractory epilepsy is a broad phenotypic spectrum with great genetic heterogeneity. Next-generation sequencing (NGS) combined with Sanger sequencing could help to understand the genetic diversity and underlying disease mechanisms in pediatric epilepsy. Here, we report sequencing results from a cohort of 172 refractory epilepsy patients aged 0-14 years. The pathogenicity of identified variants was evaluated in accordance with the American College of Medical Genetics and Genomics (ACMG) criteria. We identified 43 pathogenic or likely pathogenic variants in 40 patients (23.3%). Among these variants, 74.4% mutations (32/43) were de novo and 60.5% mutations (26/43) were novel. Patients with onset age of seizures ≤12 months had higher yields of deleterious variants compared to those with onset age of seizures > 12 months (P = 0.006). Variants in ion channel genes accounted for the greatest functional gene category (55.8%), with SCN1A coming first (16/43). 81.25% (13/16) of SCN1A mutations were de novo and 68.8% (11/16) were novel in Dravet syndrome. Pathogenic or likely pathogenic variants were found in the KCNQ2, STXBP1, SCN2A genes in Ohtahara syndrome. Novel deleterious variants were also found in West syndrome, Doose syndrome and glucose transporter type 1 deficiency syndrome patients. One de novo MECP2 mutation were found in a Rett syndrome patient. TSC1/TSC2 variants were found in 60% patients with tuberous sclerosis complex patients. Other novel mutations detected in unclassified epilepsy patients involve the SCN8A, CACNA1A, GABRB3, GABRA1, IQSEC2, TSC1, VRK2, ATP1A2, PCDH19, SLC9A6 and CHD2 genes. Our study provides novel insights into the genetic origins of pediatric epilepsy and represents a starting-point for further investigations into the molecular pathophysiology of pediatric epilepsy that could eventually lead to better treatments.


Assuntos
Epilepsia/genética , Mutação/genética , Adolescente , Criança , Pré-Escolar , Epilepsias Mioclônicas/genética , Epilepsia/diagnóstico , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Canal de Sódio Disparado por Voltagem NAV1.1/genética
17.
BMC Geriatr ; 18(1): 14, 2018 01 16.
Artigo em Inglês | MEDLINE | ID: mdl-29338695

RESUMO

BACKGROUND: Falls are a major health problem for older adults with significant physical and psychological consequences. A first step of successful fall prevention is to identify those at risk of falling. Recent advancement in sensing technology offers the possibility of objective, low-cost and easy-to-implement fall risk assessment. The objective of this systematic review is to assess the current state of sensing technology on providing objective fall risk assessment in older adults. METHODS: A systematic review was conducted in accordance to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis statement (PRISMA). RESULTS: Twenty-two studies out of 855 articles were systematically identified and included in this review. Pertinent methodological features (sensing technique, assessment activities, outcome variables, and fall discrimination/prediction models) were extracted from each article. Four major sensing technologies (inertial sensors, video/depth camera, pressure sensing platform and laser sensing) were reported to provide accurate fall risk diagnostic in older adults. Steady state walking, static/dynamic balance, and functional mobility were used as the assessment activity. A diverse range of diagnostic accuracy across studies (47.9% - 100%) were reported, due to variation in measured kinematic/kinetic parameters and modelling techniques. CONCLUSIONS: A wide range of sensor technologies have been utilized in fall risk assessment in older adults. Overall, these devices have the potential to provide an accurate, inexpensive, and easy-to-implement fall risk assessment. However, the variation in measured parameters, assessment tools, sensor sites, movement tasks, and modelling techniques, precludes a firm conclusion on their ability to predict future falls. Future work is needed to determine a clinical meaningful and easy to interpret fall risk diagnosis utilizing sensing technology. Additionally, the gap between functional evaluation and user experience to technology should be addressed.


Assuntos
Acidentes por Quedas/prevenção & controle , Tecnologia Biomédica , Avaliação Geriátrica/métodos , Medição de Risco/métodos , Idoso , Tecnologia Biomédica/instrumentação , Tecnologia Biomédica/métodos , Tecnologia Biomédica/tendências , Humanos
18.
Digit Biomark ; 2(1): 1-10, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-32095755

RESUMO

Balance impairment is common in individuals with multiple sclerosis (MS). However, objective assessment of balance usually requires clinical expertise and/or the use of expensive and obtrusive measuring equipment. These barriers to the objective assessment of balance may be overcome with the development of a lightweight inertial sensor system. In this study, we examined the concurrent validity of a novel wireless, skin-mounted inertial sensor system (BioStamp®, MC10 Inc.) to measure postural sway in individuals with MS by comparing measurement agreement between this novel sensor and gold standard measurement tools (force plate and externally validated inertial sensor). A total of 39 individuals with MS and 15 healthy controls participated in the study. Participants with MS were divided into groups based on the amount of impairment (MSMild: EDSS 2-4, n = 19; MSSevere: EDSS ≥6, n = 20). The balance assessment consisted of two 30-s quiet standing trials in each of three conditions: eyes open/firm surface, eyes closed/firm surface, and eyes open/foam surface. For each trial, postural sway was recorded with a force plate (Bertec) and simultaneously using two accelerometers (BioStamp and Xsens) mounted on the participant's posterior trunk at L5. Sway metrics (sway area, sway path length, root mean square amplitude, mean velocity, JERK, and total power) were derived to compare the measurement agreement among the measurement devices. Excellent agreement (intraclass correlation coefficients >0.9) between sway metrics derived from the BioStamp and the MTx sensors were observed across all conditions and groups. Good to excellent correlations (r >0.7) between devices were observed in all sway metrics and conditions. Additionally, the acceleration sway metrics were nearly as effective as the force plate sway metrics in differentiating individuals with poor balance from healthy controls. Overall, the BioStamp sensor is a valid and objective measurement tool for postural sway assessment. This novel, lightweight and portable sensor may offer unique advantages in tracking patient's postural performance.

19.
J Neural Transm (Vienna) ; 124(12): 1503-1508, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29071439

RESUMO

Fluctuations in gait, or gait variability, are closely related to cognitive function in various clinical populations. However, there are limited data on this relationship in multiple sclerosis (MS) patients. This investigation determined whether cognitive function as measured by processing speed is associated with gait variability in individuals with MS. This secondary analysis included 191 individuals with MS who underwent gait assessment and cognitive assessment. Cognitive processing speed was index by symbol digit modalities test (SDMT). Gait variability was indexed by step length and step time coefficient of variation (CV). Hierarchical linear regressions were performed to examine whether SDMT scores would predict step length and step time CV. After adjusting for age, gender, and disability, we found that SDMT was a significant predictor of step time CV (p < 0.001) and step length CV (p = 0.03). Overall, slower cognitive processing speed was significantly associated with greater gait variability. It is speculated that neural damage in MS patients impairs both cognitive processing speed and gait control. This study provides further evidence that motor and cognitive functions are interrelated.


Assuntos
Transtornos Cognitivos/etiologia , Transtornos Neurológicos da Marcha/etiologia , Esclerose Múltipla/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Transtornos Cognitivos/diagnóstico , Avaliação da Deficiência , Feminino , Transtornos Neurológicos da Marcha/diagnóstico , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Estatísticas não Paramétricas , Caminhada
20.
Gait Posture ; 58: 268-273, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28837917

RESUMO

Gait adaptability is essential for fall avoidance during locomotion. It requires the ability to rapidly inhibit original motor planning, select and execute alternative motor commands, while also maintaining the stability of locomotion. This study investigated the aging effect on gait adaptability and dynamic stability control during a visually perturbed gait initiation task. A novel approach was used such that the anticipatory postural adjustment (APA) during gait initiation were used to trigger the unpredictable relocation of a foot-size stepping target. Participants (10 young adults and 10 older adults) completed visually perturbed gait initiation in three adjustment timing conditions (early, intermediate, late; all extracted from the stereotypical APA pattern) and two adjustment direction conditions (medial, lateral). Stepping accuracy, foot rotation at landing, and Margin of Dynamic Stability (MDS) were analyzed and compared across test conditions and groups using a linear mixed model. Stepping accuracy decreased as a function of adjustment timing as well as stepping direction, with older subjects exhibited a significantly greater undershoot in foot placement to late lateral stepping. Late adjustment also elicited a reaching-like movement (i.e. foot rotation prior to landing in order to step on the target), regardless of stepping direction. MDS measures in the medial-lateral and anterior-posterior direction revealed both young and older adults exhibited reduced stability in the adjustment step and subsequent steps. However, young adults returned to stable gait faster than older adults. These findings could be useful for future study of screening deficits in gait adaptability and preventing falls.


Assuntos
Envelhecimento/fisiologia , Marcha/fisiologia , Equilíbrio Postural/fisiologia , Acidentes por Quedas/prevenção & controle , Adulto , Idoso , Feminino , , Humanos , Modelos Lineares , Locomoção , Masculino , Pessoa de Meia-Idade , Tempo de Reação/fisiologia , Rotação , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...