Beyond Contractures in Spinal Muscular Atrophy: Identifying Lower-Limb Joint Hypermobility.

Background: The natural history of spinal muscular atrophy (SMA) is well understood, with progressive muscle weakness resulting in declines in function. The development of contractures is common and negatively impacts function. Clinically, joint hypermobility (JH) is observed but is poorly described, and its relationship with function is unknown. Methods: Lower-limb ROM (range of motion) assessments of extension and flexion at the hip, knee, and ankle were performed. ROMs exceeding the published norms were included in the analysis. The functional assessments performed included the six-minute walk test (6 MWT) and the Hammersmith Functional Motor Scale-Expanded (HFMSE). Results: Of the 143 participants, 86% (n = 123) had at least one ROM measure that was hypermobile, and 22% (n = 32) had three or more. The HFMSE scores were inversely correlated with hip extension JH (r = -0.60, p = 0.21; n = 6) and positively correlated with knee flexion JH (r = 0.24, p = 0.02, n = 89). There was a moderate, inverse relationship between the 6 MWT distance and ankle plantar flexion JH (r = -0.73, p = 0.002; n = 15). Conclusions: JH was identified in nearly all participants in at least one joint in this study. Hip extension, knee flexion and ankle plantar flexion JH was associated with function. A further understanding of the trajectory of lower-limb joint ROM is needed to improve future rehabilitation strategies.

Consensus Paper: Ataxic Gait.

The aim of this consensus paper is to discuss the roles of the cerebellum in human gait, as well as its assessment and therapy. Cerebellar vermis is critical for postural control. The cerebellum ensures the mapping of sensory information into temporally relevant motor commands. Mental imagery of gait involves intrinsically connected fronto-parietal networks comprising the cerebellum. Muscular activities in cerebellar patients show impaired timing of discharges, affecting the patterning of the synergies subserving locomotion. Ataxia of stance/gait is amongst the first cerebellar deficits in cerebellar disorders such as degenerative ataxias and is a disabling symptom with a high risk of falls. Prolonged discharges and increased muscle coactivation may be related to compensatory mechanisms and enhanced body sway, respectively. Essential tremor is frequently associated with mild gait ataxia. There is growing evidence for an important role of the cerebellar cortex in the pathogenesis of essential tremor. In multiple sclerosis, balance and gait are affected due to cerebellar and spinal cord involvement, as a result of disseminated demyelination and neurodegeneration impairing proprioception. In orthostatic tremor, patients often show mild-to-moderate limb and gait ataxia. The tremor generator is likely located in the posterior fossa. Tandem gait is impaired in the early stages of cerebellar disorders and may be particularly useful in the evaluation of pre-ataxic stages of progressive ataxias. Impaired inter-joint coordination and enhanced variability of gait temporal and kinetic parameters can be grasped by wearable devices such as accelerometers. Kinect is a promising low cost technology to obtain reliable measurements and remote assessments of gait. Deep learning methods are being developed in order to help clinicians in the diagnosis and decision-making process. Locomotor adaptation is impaired in cerebellar patients. Coordinative training aims to improve the coordinative strategy and foot placements across strides, cerebellar patients benefiting from intense rehabilitation therapies. Robotic training is a promising approach to complement conventional rehabilitation and neuromodulation of the cerebellum. Wearable dynamic orthoses represent a potential aid to assist gait. The panel of experts agree that the understanding of the cerebellar contribution to gait control will lead to a better management of cerebellar ataxias in general and will likely contribute to use gait parameters as robust biomarkers of future clinical trials.

Perceived exertion is not a substitute for fatiguability in spinal muscular atrophy.

INTRODUCTION/AIMS: Fatiguability and perceived fatigue are common unrelated symptoms in ambulatory individuals with spinal muscular atrophy (SMA). Ratings of perceived exertion (RPE) measures the sense of effort during an activity and has been used as a proxy for fatigue. Relationships between perceived fatigue, fatiguability, and RPE have been described in healthy populations, but the relationship in SMA has not been examined. METHODS: Eighteen ambulatory individuals with SMA and 16 age-matched controls (age, 13 to 57 years; 26 [76.5%] males) performed the 6-minute walk test (6MWT) and cardiopulmonary exercise tolerance test (CPET) and completed the International Physical Activity Questionnaire---short form (IPAQ). RPE was collected during the CPET and 6MWT. Fatiguability was measured during the 6MWT. Physical activity (PA) volume was calculated using the IPAQ. Wilcoxon rank-sum tests were used to compare groups. Spearman correlation coefficients evaluated associations between variables. SMA subgroups were predetermined using 6MWT distances of over or under 300 meters. RESULTS: There were no significant associations between fatiguability and RPE or PA in SMA (P > .05). PA was strongly associated with 6MWT RPE (r = 0.71) in SMA individuals who walked fewer than 300 meters (n = 7). There were no significant associations between any variables in controls (P > .05). DISCUSSION: RPE is not associated with fatiguability in SMA. The possible association of PA and RPE may reflect the increased intensity of the 6MWT in weaker patients. RPE represents a sense of effort during exercise and should not be used as a substitute for fatiguability but may be a measure of patient experience during exercise.

Coordination of Care Among Physical Therapists and Neurologists in Huntington Disease.

This study presents a framework for physical therapy through the course of Huntington disease (HD) which includes coordinated care plans with neurologists. HD is an inherited neurodegenerative disorder that leads to impaired strength and coordination and ultimately progressive loss of function. Interdisciplinary HD care teams provide patient-centered, comprehensive evaluations and make recommendations for pharmacologic, healthcare, and lifestyle interventions based on best available evidence. Physical therapists work to improve movement and mobility using specific therapeutic interventions and individualized exercise programs. The proposed framework recommends that neurologists refer persons with HD to physical therapy at all disease stages, ideally beginning in premanifest and early stages, and that they regularly communicate with physical therapists to ensure implementation of a coordinated care plan. Resources are provided for neurologists to facilitate appropriate referral for individuals with HD to physical therapy based on clinical practice guidelines, including a referral decision guide.

Clinical Decision Trees to Guide Physical Therapy Management of Persons with Huntington's Disease.

BACKGROUND: In 2020, our group published physical therapy clinical practice guidelines (CPG) for people with Huntington's disease (HD). The guideline recommendations were categorized according to six primary movement impairment classifications. OBJECTIVE: To facilitate implementation of this CPG, we have developed guideline-based algorithms for physical therapy assessments and interventions and recommendations for therapists to overcome barriers to CPG implementation for people with HD. METHODS: We conducted a literature review of papers that evaluated physical therapy interventions in individuals with HD (n = 26) to identify assessments for each of the primary movement impairment classifications, and then searched for papers (n = 28) that reported their clinometric/psychometric properties in HD. Assessments were evaluated using modified Movement Disorder Society Committee on Rating Scales criteria and other relevant criteria. RESULTS: We identified a "core set" of physical therapy assessments for persons with HD, including the Six Minute Walk Test, Timed Up and Go Test, Berg Balance Scale, and the Medical Outcomes Study Short Form 36 (SF-36). We then developed guideline-based decision trees to assist in decision making and implementation of the CPG into practice for persons with HD across the continuum of care. Finally, we developed strategies for overcoming barriers to implementation, such as seeking specialized training in HD, engaging caretakers or family members to help the person with HD to exercise, and establishing clinical pathways that support early physical therapy referrals. CONCLUSION: Knowledge translation documents such as this are essential to promoting implementation of the physical therapy CPGs into clinical practice.

Utility of the AM-PAC "6 Clicks" Basic Mobility and Daily Activity Short Forms to Determine Discharge Destination in an Acute Stroke Population.

IMPORTANCE: The American Heart Association and American Stroke Association recommend early identification of level of rehabilitative care as a priority after stroke. OBJECTIVE: To evaluate the utility of the Activity Measure for Post-Acute Care (AM-PAC) "6 Clicks" Daily Activity and Basic Mobility forms to determine the next level of rehabilitation after hospitalization for adults with stroke. DESIGN: Retrospective cohort design using medical records from 2015 to 2016. SETTING: Major urban hospital. PARTICIPANTS: Patients admitted to the stroke service, with a confirmed stroke, who were seen by a physical or occupational therapist; who had a 6 Clicks Basic Mobility or Daily Activity score at initial evaluation; and who were discharged to home, an acute inpatient rehabilitation facility (IRF), or a subacute skilled nursing facility (SNF). OUTCOMES AND MEASURES: Length of stay and discharge destination. RESULTS: Seven hundred four participants (M age = 68.28 yr; 51.21% female) were included. Analysis of variance and receiver operating characteristic curves were performed. Daily Activity scores were highest for home discharge, lower for IRF discharge, and lowest for SNF discharge; Basic Mobility showed a similar pattern. Cutoff values distinguishing home from further inpatient rehabilitation were 44.50 for Basic Mobility and 39.40 for Daily Activity scores (area under the curve [AUC] = .82 for both forms), with scores of 34.59 (AUC = 0.64) and 31.32 (AUC = 0.67) separating IRF from SNF, respectively. CONCLUSIONS AND RELEVANCE: Therapists should incorporate 6 Clicks scores into their discharge planning. What This Article Adds: This research demonstrates the utility of an outcome measure in the acute care setting that assists in planning discharge destination for patients with stroke.

Transductive Learning Models for Accurate Ambulatory Gait Analysis in Elderly Residents of Assisted Living Facilities.

Instrumented footwear represents a promising technology for spatiotemporal gait analysis in out-of-the-lab conditions. However, moderate accuracy impacts this technology's ability to capture subtle, but clinically meaningful, changes in gait patterns that may indicate adverse outcomes or underlying neurological conditions. This limitation hampers the use of instrumented footwear to aid functional assessments and clinical decision making. This paper introduces new transductive-learning inference models that substantially reduce measurement errors relative to conventional data processing techniques, without requiring subject-specific labelled data. The proposed models use subject-optimized input features and hyperparameters to adjust the spatiotemporal gait metrics (i.e., stride time, length, and velocity, swing time, and double support time) obtained with conventional techniques, resulting in computationally simpler models compared to end-to-end machine learning approaches. Model validity and reliability were evaluated against a gold-standard electronic walkway during a clinical gait performance test (6-minute walk test) administered to N = 95 senior residents of assisted living facilities with diverse levels of gait and balance impairments. Average reductions in absolute errors relative to conventional techniques were -42.0% and -33.5% for spatial and gait-phase parameters, respectively, indicating the potential of transductive learning models for improving the accuracy of instrumented footwear for ambulatory gait analysis.

Effects of Power Training on Gait, Power, and Function in Children with Cerebral Palsy.

AIMS: This scoping review aims to: 1) examine available literature regarding the effects of power training on gait speed, power, and function in ambulatory children with CP and 2) identify the variations in exercise dosage and rehabilitation recommendations for power training and plyometrics in children with CP. METHODS: Four databases (PubMed, CINAHL, Embase, and Cochrane) were searched for papers including power or plyometric training with outcome measures for gait, power or functional performance. ES was calculated for RCTs. Cohorts and case series/studies were evaluated qualitatively. RESULTS: Ten articles fit search criteria: four RCTs, three cohort studies, one case series, and two case studies. Power training consistently demonstrated improvements in muscle power compared to its effects on gait and function. ES of mean MPST (W) ranged from 0.36-1.13. 1 MWT and SSGS ES were 1.31 and 1.15, respectively. TUG ES ranged from -0.33 to -2.42. ES for GMFM-66 was 0.13 and 1.11 for Dimension D and Dimension E, respectively. CONCLUSIONS: There is limited, but promising evidence to support that power training may improve gait speed, power, and function in children with CP. Future, more robust research is required to examine effects in a larger, diverse population, to determine long-term effects and exercise prescription.

Erratum: Gait monitoring for older adults during guided walking: An integrated assistive robot and wearable sensor approach - ERRATUM.

[This corrects the article DOI: 10.1017/wtc.2022.23.].

Gait monitoring for older adults during guided walking: An integrated assistive robot and wearable sensor approach.

An active lifestyle can mitigate physical decline and cognitive impairment in older adults. Regular walking exercises for older individuals result in enhanced balance and reduced risk of falling. In this article, we present a study on gait monitoring for older adults during walking using an integrated system encompassing an assistive robot and wearable sensors. The system fuses data from the robot onboard Red Green Blue plus Depth (RGB-D) sensor with inertial and pressure sensors embedded in shoe insoles, and estimates spatiotemporal gait parameters and dynamic margin of stability in real-time. Data collected with 24 participants at a community center reveal associations between gait parameters, physical performance (evaluated with the Short Physical Performance Battery), and cognitive ability (measured with the Montreal Cognitive Assessment). The results validate the feasibility of using such a portable system in out-of-the-lab conditions and will be helpful for designing future technology-enhanced exercise interventions to improve balance, mobility, and strength and potentially reduce falls in older adults.

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy.

OBJECTIVE: To estimate muscle oxygen uptake and quantify fatigue during exercise in ambulatory individuals with spinal muscular atrophy (SMA) and healthy controls. METHODS: Peak aerobic capacity (VO2peak ) and workload (Wpeak ) were measured by cardiopulmonary exercise test (CPET) in 19 ambulatory SMA patients and 16 healthy controls. Submaximal exercise (SME) at 40% Wpeak was performed for 10 minutes. Change in vastus lateralis deoxygenated hemoglobin, measured by near-infrared spectroscopy, determined muscle oxygen uptake (ΔHHb) at rest and during CPET and SME. Dual energy X-ray absorptiometry assessed fat-free mass (FFM%). Fatigue was determined by percent change in workload or distance in the first compared to the last minute of SME (FatigueSME ) and six-minute walk test (Fatigue6MWT ), respectively. RESULTS: ΔHHb-PEAK, ΔHHb-SME, VO2peak , Wpeak , FFM%, and 6MWT distance were lower (P < 0.001), and Fatigue6MWT and FatigueSME were higher (P < 0.001) in SMA compared to controls. ΔHHb-PEAK correlated with FFM% (r = 0.50) and VO2peak (r = 0.41) only in controls. Only in SMA, Fatigue6MWT was inversely correlated with Wpeak (r = -0.69), and FatigueSME was inversely correlated with FFM% (r = -0.55) and VO2peak (r = -0.69). INTERPRETATION: This study provides further support for muscle mitochondrial dysfunction in SMA patients. During exercise, we observed diminished muscle oxygen uptake but no correlation with aerobic capacity or body composition. We also observed increased fatigue which correlated with decreased aerobic capacity, workload, and body composition. Understanding the mechanisms underlying diminished muscle oxygen uptake and increased fatigue during exercise in SMA may identify additional therapeutic targets that rescue symptomatic patients and mitigate their residual disease burden.

Analysis of gait synchrony and balance in neurodevelopmental disorders using computer vision techniques.

Gait tasks are commonly administered during motor assessments of children with neurodevelopmental disorders (NDDs). Gait analyses are often conducted in laboratory settings using costly and cumbersome experiments. In this paper, we propose a computational pipeline using computer vision techniques as an ecological and precise method to quantify gait in children with NDDs with challenging behaviors. We analyzed videos of 15 probands (PB) and 12 typically developing (TD) siblings, engaged in a preferred-pace walking task, using pose estimation software to track points of interest on their bodies over time. Analyzing the extracted information revealed that PB children had significantly less whole-body gait synchrony and poorer balance compared to their TD siblings. Our work offers a cost-effective method while preserving the validity of its results. This remote approach increases access to more diverse and distant cohorts and thus lowers barriers to research participation, further enriching our understanding of motor outcomes in NDDs.

Prospective Longitudinal Study of Gait and Balance in a Cohort of Elderly Essential Tremor Patients.

Background: Essential tremor (ET) encompasses a variety of features, including tremor, cognitive dysfunction, and gait and balance impairments. Gait and balance impairments in ET are often mild, but they can be severe and are, in some cases, associated with functional sequelae in terms of increased fall risk and reduced balance confidence. Previous research on gait and balance in ET has been limited to cross-sectional comparisons. There have been no longitudinal studies or prospective studies. As such, our understanding of natural history and possible predictors of declines in ET-related gait and balance impairments is incomplete. Objectives: We (1) present natural history data on the change in gait and balance measures over time, (2) provide estimates of annual rate of change in each gait and balance metric, and (3) examine the relationship between baseline clinical predictors and changes in gait and balance over time. Methods: 149 ET participants (mean age 78.7 years), enrolled in a prospective, longitudinal, clinical-pathological study, underwent an extensive evaluation of cognition, tremor, and gait and balance at three distinct intervals performed every 18 months. Gait and balance measures included a combination of performance-based tests (e.g., tandem gait, tandem stance) and self-reported assessments (e.g., number of falls, use of a walking aid). Results: Between the baseline and final assessments, numerous balance and gait measures showed evidence of decline and annual rates of change were quantified for each. We examined the predictive utility of clinical variables at baseline for five gait and balance outcomes, with global cognition and executive function standing out as the most consistent predictors. Conclusions: We present a much-needed look into the course of disease for elderly patients with ET, focusing on changes observed in gait and balance and the predictors of these changes. These results also add another dimension to the relevance of cognitive impairment observed in ET; such impairment can now be viewed as predictive of poorer gait and balance over time in ET. These findings are a useful tool for clinicians, patients, and their families to better understand and plan for changing disease-features over time.

Neuroanatomical Models of Muscle Strength and Relationship to Ambulatory Function in Spinal Muscular Atrophy.

BACKGROUND: Individuals with spinal muscular atrophy (SMA) III walk independently, but experience muscle weakness, gait impairments, and fatigue. Although SMA affects proximal more than distal muscles, the characteristic pattern of selective muscle weakness has not been explained. Two theories have been proposed: 1) location of spinal motor neurons; and 2) differences in segmental innervation. OBJECTIVE: To identify neuroanatomical models that explain the selective muscle weakness in individuals with SMA and assess the relationship of these models to ambulatory function. METHODS: Data from 23 ambulatory SMA participants (78.2% male), ages 10-56 years, enrolled in two clinical studies (NCT01166022, NCT02895789) were included. Strength was assessed using the Medical Research Council (MRC) score; ambulatory function was measured by distance walked on the 6-minute walk test (6 MWT). Three models were identified, and relationships assessed using Pearson correlation coefficients and linear regression. RESULTS: All models demonstrated a positive association between strength and function, (p < 0.02). Linear regression revealed that Model 3B, consisting of muscles innervated by lower lumbar and sacral segments, explained 67% of the variability observed in 6 MWT performance (ß= 0.670, p = 0.003). CONCLUSIONS: Muscles innervated by lower lumbar and sacral segments, i.e. hip extensors, hip abductors, knee flexors and ankle dorsiflexors, correlated with and predicted greater ambulatory function. The neuroanatomical patterns of muscle weakness may contribute to a better understanding of disease mechanisms and enable delivery of targeted therapies.

Quantifying Postural Control in Premanifest and Manifest Huntington Disease Using Wearable Sensors.

Background. Impairments in postural control in Huntington disease (HD) have important consequences for daily functioning. This observational study systematically examined baseline postural control and the effect of sensory attenuation and sensory enhancement on postural control across the spectrum of HD. Methods. Participants (n = 39) included healthy controls and individuals in premanifest (pHD) and manifest stages (mHD) of HD. Using wearable sensors, postural control was assessed according to (1) postural set (sit vs stand), (2) sensory attenuation using clinical test of sensory integration, and (3) sensory enhancement with gaze fixation. Outcomes included sway smoothness, amplitude, and frequency. Results. Based on postural set, pHD reduced postural sway in sitting relative to standing, whereas mHD had pronounced sway in standing and sitting, highlighting a baseline postural deficit. During sensory attenuation, postural control in pHD deteriorated relative to controls when proprioceptive demands were high (eyes closed on foam), whereas mHD had significant deterioration of postural control when proprioception was attenuated (eyes open and closed on foam). Finally, gaze fixation improved sway smoothness, amplitude, and frequency in pHD; however, no benefit was observed in mHD. Conclusions. Systematic examination of postural control revealed a fundamental postural deficit in mHD, which further deteriorates when proprioception is challenged. Meanwhile, postural deficits in pHD are detectable when proprioceptive challenge is high. Sensory enhancing strategies using gaze fixation to benefit posture may be useful when introduced well before motor diagnosis. These findings encourage further examination of wearable sensors as part of routine clinical assessments in HD.

Wearable Biofeedback System to Induce Desired Walking Speed in Overground Gait Training.

Biofeedback systems have been extensively used in walking exercises for gait improvement. Past research has focused on modulating the wearer's cadence, gait variability, or symmetry, but none of the previous works has addressed the problem of inducing a desired walking speed in the wearer. In this paper, we present a new, minimally obtrusive wearable biofeedback system (WBS) that uses closed-loop vibrotactile control to elicit desired changes in the wearer's walking speed, based on the predicted user response to anticipatory and delayed feedback. The performance of the proposed control was compared to conventional open-loop rhythmic vibrotactile stimulation with N = 10 healthy individuals who were asked to complete a set of walking tasks along an oval path. The closed-loop vibrotactile control consistently demonstrated better performance than the open-loop control in inducing desired changes in the wearer's walking speed, both with constant and with time-varying target walking speeds. Neither open-loop nor closed-loop stimuli affected natural gait significantly, when the target walking speed was set to the individual's preferred walking speed. Given the importance of walking speed as a summary indicator of health and physical performance, the closed-loop vibrotactile control can pave the way for new technology-enhanced protocols for gait rehabilitation.

Clinical recommendations to guide physical therapy practice for Huntington disease.

OBJECTIVE: In the past decade, an increasing number of studies have examined the efficacy of physical therapy interventions in people with Huntington disease (HD). METHODS: We performed a mixed-methods systematic review using Joanna Briggs Institute (JBI) methodology and included experimental and observational study designs. The search resulted in 23 quantitative studies and 3 qualitative studies from which we extracted data using JBI standardized extraction tools. Results of this review suggested that physical therapy interventions may improve motor impairments and activity limitations in people with HD. Here, we expand on the review findings to provide specific recommendations to guide clinical practice. RESULTS: We recommend the following specific physical therapy interventions for people with HD: aerobic exercise (grade A evidence), alone or in combination with resistance training to improve fitness and motor function, and supervised gait training (grade A evidence) to improve spatiotemporal features of gait. In addition, there is weak (grade B) evidence that exercise training improves balance but does not show a reduction in the frequency of falls; inspiratory and expiratory training improves breathing function and capacity; and training of transfers, getting up from the floor, and providing strategies to caregivers for involvement in physical activity in the midstages of HD may improve performance. There is expert consensus for the use of positioning devices, seating adaptations, and caregiver training in late stages of HD. CONCLUSIONS: There is strong evidence to support physical therapy interventions to improve fitness, motor function, and gait in persons with HD.

Quantitative gait assessment in children with 16p11.2 syndrome.

BACKGROUND: Neurodevelopmental disorders such as 16p11.2 syndrome are frequently associated with motor impairments including locomotion. The lack of precise measures of gait, combined with the challenges inherent in studying children with neurodevelopmental disorders, hinders quantitative motor assessments. Gait and balance are quantifiable measures that may help to refine the motor phenotype in 16p11.2. The characterization of motor profile is useful to study the trajectories of locomotion performance of children with genetic variants and may provide insights into neural pathway dysfunction based on genotype/phenotype model. METHODS: Thirty-six children (21 probands with 16p11.2 deletion and duplication mutation and 15 unaffected siblings), with a mean age of 8.5 years (range 3.2-15.4) and 55% male, were enrolled. Of the probands, 23% (n = 6) had a confirmed diagnosis of autism spectrum disorder (ASD) and were all male. Gait assessments included 6-min walk test (6MWT), 10-m walk/run test (10MWR), timed-up-and-go test (TUG), and spatio-temporal measurements of preferred- and fast-paced walking. The Pediatric Evaluation of Disability Inventory-Computer Adaptive Tests (PEDI-CAT), a caregiver-reported functional assessment, was administered. Measures of balance were calculated using percent time in double support and base of support. Analyses of the six children with ASD were described separately. RESULTS: Thirty-six participants completed the protocol. Compared with sibling controls, probands had significantly lower scores on the 6MWT (p = 0.04), 10MWR (p = 0.01), and TUG (p = 0.005). Group differences were also identified in base of support (p = 0.003). Probands had significantly lower PEDI-CAT scores in all domains including the mobility scale (p < 0.001). Using age-matched subsamples, the ASD and non-ASD genetic variant groups had larger base of support compared to the controls. In the fast-paced condition, all participants increased their velocity, and there was a corresponding decrease in percent time in double support compared to the preferred-pace condition in all participants. Only the ASD group presented with upper limb arm/hand stereotypies. CONCLUSIONS: Children with 16p11.2, with and without ASD, present with balance impairment during locomotion activities. Probands performed worse on functional assessments, and quantitative measures revealed differences in base of support. These results highlight the importance of using precise measures to differentiate motor dysfunction in children with neurodevelopmental disorders.