Interrater Reliability of the Scale for the Assessment and Rating of Ataxia, Berg Balance Scale, and Functional Independence Measure Motor Domain in Individuals With Hereditary Cerebellar Ataxia.

OBJECTIVE: To determine the interrater reliability of the Scale for the Assessment and Rating of Ataxia (SARA), Berg Balance Scale (BBS), and motor domain of the FIM (m-FIM) administered by physiotherapists in individuals with a hereditary cerebellar ataxia (HCA). DESIGN: Participants were assessed by 1 of 4 physiotherapists. Assessments were video-recorded and the remaining 3 physiotherapists scored the scales for each participant. Raters were blinded to each other's scores. SETTING: Assessments were administered at 3 clinical locations in separate states in Australia. PARTICIPANTS: Twenty-one individuals (mean age=47.63 years; SD=18.42; 13 male and 8 female) living in the community with an HCA were recruited (N=21). MAIN OUTCOME MEASURES: Total and single-item scores of the SARA, BBS, and m-FIM were examined. The m-FIM was conducted by interview. RESULTS: Intraclass coefficients (2,1) for the total scores of the m-FIM (0.92; 95% confidence interval [CI], 0.85-0.96), SARA (0.92; 95% CI, 0.86-0.96), and BBS (0.99; 95% CI, 0.98-0.99) indicated excellent interrater reliability. However, there was inconsistent agreement with the individual items, with SARA item 5 (right side) and item 7 (both sides) demonstrating poor interrater reliability and items 1 and 2 demonstrating excellent reliability. CONCLUSIONS: The m-FIM (by interview), SARA, and BBS have excellent interrater reliability for use when assessing individuals with an HCA. Physiotherapists could be considered for administration of the SARA in clinical trials. However, further work is required to improve the agreement of the single-item scores and to examine the other psychometric properties of these scales.

Functional Outcomes Associated With Independence in Walking Among People With Hereditary Ataxias: An Exploratory Cross-sectional Study.

OBJECTIVE: This study aimed to identify functional outcomes related to independence in walking among people affected by hereditary ataxias. METHODS: Sixty participants were selected by convenience in a list provided by an organization of people with ataxia. Sociodemographic and clinical data were collected using a semistructured questionnaire. The Assessment and Rating of Ataxia was used to assess and rate cerebellar ataxia. Changes in body structure and function, limitation in activities, and restriction in participation were evaluated with specific outcome measures. Participants were classified as independent in walking if they were able to walk without walking aids or human assistance and as dependent in walking if they have been using walking aids (sticks, crutches, or walkers) for more than 6 months, using a wheelchair for locomotion most of the day, or both. Multivariate logistic regression analyses were conducted hierarchically and in blocks considering upper limbs function, balance systems, sensory functions, postural control, walking, independence, cognition, and perception as independent variables. The prevalence ratio for walking independence was determined. RESULTS: The final regression model pointed out that gait capacity assessed by the 6-Minute Walk Test and dexterity assessed by the Box and Blocks test were the main markers related to walking independence in individuals with hereditary ataxias. CONCLUSION: The distance covered in 6 minutes of walking (walking endurance) and upper extremity dexterity can be used to better assess the progression of cerebellar disease related to walking independence in individuals with hereditary ataxias. IMPACT: This study supports early detection of individuals who are at risk of loss of walking independence and an optimized rehabilitation plan.

Can the ARAT Be Used to Measure Arm Function in People With Cerebellar Ataxia?

OBJECTIVE: For people with ataxia, there are validated outcome measures to address body function and structure (BFS) impairments and participation; however, no outcome measure exists for upper extremity (UE) activity level in this population. The purpose of this study was to determine whether the action research arm test (ARAT), a measure of UE activity validated for other neurological conditions, might be a useful outcome measure for capturing UE activity limitations in ataxia. METHODS: A total of 22 participants with ataxia were evaluated to assess construct validity of the ARAT; 19 of the participants were included in the interrater reliability assessment. Participants received a neurologic examination and completed a battery of outcome measures, including the ARAT. ARAT performance was video recorded and scored by 4 additional raters. RESULTS: For construct validity, Spearman rho showed a significant moderate relationship between the ARAT and BSF outcome measures. A small, nonsignificant relationship was noted for the ARAT and the participation measure. For interrater reliability, Spearman rho showed a large, significant relationship among all raters for the ARAT (range = .87-.94). High reliability was demonstrated using the intraclass correlation coefficient ([2,1] = .97). CONCLUSION: The ARAT is moderately correlated with ataxia BFS outcome measures, but not with participation scores. The ARAT is a measure of UE activity, which is different from BFS and participation outcome measures. The ARAT was identified to have strong interrater reliability among raters with varying amounts of experience administering the ARAT. Thus, for the ataxic population, the ARAT may be useful for assessing UE activity limitations. IMPACT: Ataxia can negatively affect reaching tasks; therefore, it is important to assess UE activity level in people with ataxia. Until this study, no outcome measure had been identified for this purpose. LAY SUMMARY: People with ataxia may have difficulty with daily tasks that require reaching. The ARAT is an outcome measure that clinicians can use to assess UE activity limitations to help design a treatment program.

Reinforcement Signaling Can Be Used to Reduce Elements of Cerebellar Reaching Ataxia.

Damage to the cerebellum causes a disabling movement disorder called ataxia, which is characterized by poorly coordinated movement. Arm ataxia causes dysmetria (over- or under-shooting of targets) with many corrective movements. As a result, people with cerebellar damage exhibit reaching movements with highly irregular and prolonged movement paths. Cerebellar patients are also impaired in error-based motor learning, which may impede rehabilitation interventions. However, we have recently shown that cerebellar patients can learn a simple reaching task using a binary reinforcement paradigm, in which feedback is based on participants' mean performance. Here, we present a pilot study that examined whether patients with cerebellar damage can use this reinforcement training to learn a more complex motor task-to decrease the path length of their reaches. We compared binary reinforcement training to a control condition of massed practice without reinforcement feedback. In both conditions, participants made target-directed reaches in 3-dimensional space while vision of their movement was occluded. In the reinforcement training condition, reaches with a path length below participants' mean were reinforced with an auditory stimulus at reach endpoint. We found that patients were able to use reinforcement signaling to significantly reduce their reach paths. Massed practice produced no systematic change in patients' reach performance. Overall, our results suggest that binary reinforcement training can improve reaching movements in patients with cerebellar damage and the benefit cannot be attributed solely to repetition or reduced visual control.

Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar ataxia.

INTRODUCTION: Emerging evidence indicates that rehabilitation can improve ataxia, mobility and independence in everyday activities in individuals with hereditary cerebellar ataxia. However, with the rarity of the genetic ataxias and known recruitment challenges in rehabilitation trials, most studies have been underpowered, non-randomised or non-controlled. This study will be the first, appropriately powered randomised controlled trial to examine the efficacy of an outpatient and home-based rehabilitation programme on improving motor function for individuals with hereditary cerebellar ataxia. METHODS AND ANALYSIS: This randomised, single-blind, parallel group trial will compare a 30-week rehabilitation programme to standard care in individuals with hereditary cerebellar ataxia. Eighty individuals with a hereditary cerebellar ataxia, aged 15 years and above, will be recruited. The rehabilitation programme will include 6 weeks of outpatient land and aquatic physiotherapy followed immediately by a 24- week home exercise programme supported with fortnightly physiotherapy sessions. Participants in the standard care group will be asked to continue their usual physical activity. The primary outcome will be the motor domain of the Functional Independence Measure. Secondary outcomes will measure the motor impairment related to ataxia, balance, quality of life and cost-effectiveness. Outcomes will be administered at baseline, 7 weeks, 18 weeks and 30 weeks by a physiotherapist blinded to group allocation. A repeated measures mixed-effects linear regression model will be used to analyse the effect of the treatment group for each of the dependent continuous variables. The primary efficacy analysis will follow the intention-to-treat principle. ETHICS AND DISSEMINATION: The study has been approved by the Monash Health Human Research Ethics Committee (HREC/18/MonH/418) and the Human Research Ethics Committee of the Northern Territory Department of Health and Menzies School of Health Research (2019/3503). Results will be published in peer-reviewed journals, presented at national and/or international conferences and disseminated to Australian ataxia support groups. TRIAL REGISTRATION NUMBER: ACTRN12618000908235.

Changes in standing stability with balance-based torso-weighting with cerebellar ataxia: A pilot study.

OBJECTIVES: People with cerebellar ataxia have few options to improve the standing stability they need for function. Strategic placement of light weights on the torso using the balance-based torso-weighting (BBTW) method has improved stability and reduced falls in people with multiple sclerosis, but has not been tested in cerebellar ataxia. We examined whether torso-weighting increased standing stability and/or functional movement in people with cerebellar ataxia. METHODS: Ten people with cerebellar ataxia and 10 matched controls participated in this single-session quasi-experimental pilot study. People with ataxia performed the Scale for the Assessment and Rating of Ataxia (SARA) prior to clinical testing. All participants donned inertial sensors that recorded postural sway; stopwatches recorded duration for standing and mobility tasks. All participants stood for up to 30 s on firm and foam surfaces with eyes open then eyes closed, and performed the Timed Up and Go (TUG) test. Light weights (0.57-1.25 kg) were strategically applied to a vest-like garment. Paired t tests compared within-group differences with and without BBTW weights. Independent t tests assessed differences from controls. All t tests were one-tailed with alpha set at .05. RESULTS: Duration of standing for people with ataxia was significantly longer with weighting (p = .004); all controls stood for the maximum time of 120 s with and without weights. More severe ataxia according to SARA was moderately correlated with greater improvement in standing duration with BBTW (Pearson r = .54). Tasks with more sensory challenges (eyes closed, standing on firm surface) showed less body sway with weighting. Duration for the TUG was unchanged by torso-weighting in people with ataxia. CONCLUSION: Strategic weighting improved standing stability but not movement speed in people with ataxia. BBTW has potential for improving stability and response to challenging sensory conditions in this population. Future studies should further examine gait stability measures along with movement speed.

The Working Life of People with Degenerative Cerebellar Ataxia.

The aim of the present study was to characterize and analyze the most important individual and organizational variables associated with job accommodation in subjects with degenerative cerebellar ataxia by administering a series of international and validated work activity-related scales. Twenty-four workers (W) and 58 non-workers (NW) were recruited: 34 with autosomal dominant ataxia and 48 with autosomal recessive ataxia (27 with Friedreich ataxia and 21 with sporadic adult-onset ataxia of unknown etiology). The severity of ataxia was rated using the Scale for the Assessment and Rating of Ataxia. Our results showed that the ataxic W were predominantly middle-aged (41-50 years), high school graduate, and married men with a permanent work contract, who had been working for more than 7 years. The W with ataxia exhibited a good level of residual working capacity, irrespective of gender, age range, and duration of the disease, and they were observed to have a low or average-to-low job stress-related risk. Supporting patients with ataxia to find an appropriate job is an important priority because about 78% of NW search for a job and W and NW have the same potential work abilities (no relevant differences were found in terms of disease characteristics, gender, and work resilience). In this view, introducing NW to work-life may have a potential rehabilitative aspect. Findings of this study highlight that equal job opportunities for subjects affected by cerebellar ataxia are recommended.

Effects of repeated waist-pull perturbations on gait stability in subjects with cerebellar ataxia.

BACKGROUND: Damage to the cerebellum can affect neural structures involved in locomotion, causing gait and balance disorders. However, the integrity of cerebellum does not seem to be critical in managing sudden and unexpected environmental changes such as disturbances during walking. The cerebellum also plays a functional role in motor learning. Only a few effective therapies exist for individuals with cerebellar ataxia. With these in mind, we aimed at investigating: (1) corrective response of participants with cerebellar ataxia (CA) to unexpected gait perturbations; and (2) the effectiveness of a perturbation-based training to improve their dynamic stability during balance recovery responses and steady walking. Specifically, we hypothesized that: (1) CA group can show a corrective behavior similar to that of a healthy control group; (2) the exposure to a perturbation-based treatment can exploit residual learning capability, thus improving their dynamic stability during balance recovery responses and steady locomotion. METHODS: Ten participants with cerebellar ataxia and eight age-matched healthy adults were exposed to a single perturbation-based training session. The Active Tethered Pelvic Assist Device applied unexpected waist-pull perturbations while participants walked on a treadmill. Spatio-temporal parameters and dynamic stability were determined during corrective responses and steady locomotion, before and after the training. The ANalysis Of VAriance was the main statistical test used to assess the effects of group (healthy vs CA) and training (baseline vs post) on spatio-temporal parameters of the gait and margin of stability. RESULTS: Data analysis revealed that individuals with cerebellar ataxia behaved differently from healthy volunteers: (1) they retained a wider base of support during corrective responses and steady gait both before and after the training; (2) due to the training, patients improved their anterior-posterior margin of stability during steady walking only. CONCLUSIONS: Our results revealed that participants with cerebellar ataxia could still rely on their learning capability to modify the gait towards a safer behavior. However, they could not take advantage from their residual learning capability while managing sudden and unexpected perturbations. Accordingly, the proposed training paradigm can be considered as a promising approach to improve balance control during steady walking in these individuals.

Long term at-home treatment with transcranial direct current stimulation (tDCS) improves symptoms of cerebellar ataxia: a case report.

BACKGROUND: Progressive cerebellar ataxia is a neurodegenerative disorder without effective treatment options that seriously hinders quality of life. Previously, transcranial direct current stimulation (tDCS) has been demonstrated to benefit cerebellar functions (including improved motor control, learning and emotional processing) in healthy individuals and patients with neurological disorders. While tDCS is an emerging therapy, multiple daily sessions are needed for optimal clinical benefit. This case study tests the symptomatic benefit of remotely supervised tDCS (RS-tDCS) for a patient with cerebellar ataxia. METHODS: We report a case of a 71-year-old female patient with progressive cerebellar ataxia, who presented with unsteady gait and balance impairment, treated with tDCS. tDCS was administered using our RS-tDCS protocol and was completed daily in the patient's home (Monday - Friday) with the help of a trained study technician. tDCS was paired with 20 min of simultaneous cognitive training, followed by 20 min of physical exercises directed by a physical therapist. Stimulation consisted of 20 min of 2.5 mA direct current targeting the cerebellum via an anodal electrode and a cathodal electrode placed over the right shoulder. The patient completed baseline and treatment end visits with neurological, cognitive, and motor (Lafayette Grooved Pegboard Test, 25 ft walk test and Timed Up and Go Test) assessments. RESULTS: The patient successfully completed sixty tDCS sessions, 59 of which were administered remotely at the patient's home with the use of real time supervision as enabled by video conferencing. Mild improvement was observed in the patient's gait with a 7% improvement in walking speed, which she completed without a walking-aid at treatment end, which was in stark contrast to her baseline assessment. Improvements were also achieved in manual dexterity, with an increase in pegboard scores bilaterally compared to baseline. CONCLUSIONS: Results from this case report suggest that consecutively administered tDCS treatments paired with cognitive and physical exercise hold promise for improving balance, gait, and manual dexterity in patients with progressive ataxia. Remotely supervised tDCS provides home access to enable the administration over an extended period. Further controlled study in a large group of those with cerebellar ataxia is needed to replicate these findings. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT03049969 . Registered 10 February 2017- Retrospectively registered.

Effects of dance-based movement therapy on balance, gait, and psychological functions in severe cerebellar ataxia: A case study.

Purpose: Individuals in the later stages of cerebellar ataxia usually experience serious balance and immobility problems. Currently, there is a lack of adequate rehabilitative programs for individuals with severe cerebellar ataxia that can help improve ataxia-related motor impairment. The purpose of the present study was to explore the potential physiotherapeutic benefits of partnered dance on balance, motor functions, and psychological well-being in an individual demonstrating severe cerebellar ataxia symptoms. Methods: The individual was a 39-year-old male diagnosed with cerebellar atrophy. He had the disease for more than 15 years prior to the study. The individual attended 24 intervention sessions over an 8-week period of dance-based movement training that aimed to improve his balance and postural stability by facilitating the perception and control of static and dynamic balance movements and body alignment. Results: The individual demonstrated improvements in independent standing balance, gait characteristics, and functional mobility. In addition, improvements in self-reported depression and quality of life scores were observed after completion of the intervention. Conclusion: Although interpreting the findings of this study is limited to a single participant, partnered dance could be a suitable alternative physiotherapeutic intervention method for people with severely impaired mobility due to cerebellar dysfunction.

Patients with Cerebellar Ataxia Do Not Benefit from Limb Weights.

Patients with cerebellar ataxia are sometimes treated by the addition of mass to the limbs, though this practice has received limited study. Recent work suggests that adding mass to the limbs might have predictable effects on the pattern of cerebellar dysmetria (i.e., over or undershooting) that depends on a hypothesized mismatch between the actual limb inertia and the brain's estimate of limb inertia. Based on this model, we predicted that addition of mass would only be effective in reducing dysmetria in hypometric patients. Cerebellar patients were challenged with making a single-joint, single degree of freedom reaching movement while various limb masses were tested. In this task, some single-jointed reaches were improved by adding masses that were optimized in a patient-specific manner. However, this improvement did not translate to multi-joint movements. In multi-joint movements, the "best" patient-specific masses (as determined in a single-joint task) generally exacerbated subjects' reaching errors. This finding raises questions as to the merits of adding limb weights as a therapy to mitigate the effects of dysmetria.

Drug treatment.

There are no approved disease-modifying therapies for any of the inherited cerebellar ataxias. Drug treatment in childhood ataxia is still very limited. Effective treatments are available for only a few rare metabolic hereditary disorders. Symptomatic management of associated tremor, spasticity, dystonia, or chorea can follow the medication recommendations in general usage. The foundation of management of cerebellar ataxia in adults or children remains rehabilitation.

Rehabilitation Course and Specification of Dysmetria of a Patient With Ataxia, Dysmetria, and Hemiparesis After a Stroke in the Corona Radiata: A Case Presentation.

We present a case of a patient with ataxia, dysmetria, and hemiparesis after a stroke in the corona radiata. The patient had an excellent clinical course with near resolution of symptoms in 2 and a half weeks and returned back to work full duty and full time a couple of weeks later. We use videos of several neurologic tests to demonstrate and characterize the dysmetria. Interestingly, a key characteristic of the dysmetria appears to be different from that seen in patients with dysmetria arising from a cerebellar, thalamic, or pontine lesion. We propose a possible neurophysiologic mechanism-damage to and redundancy of part of the corticopontine portion of the cerebellar circuit located in the corona radiata-respectively responsible for this condition and recovery. We also discuss how a simple noninvasive study of patients with ataxia and dysmetria secondary to corona radiata, thalamic, pontine, and possibly other brain lesions may be helpful in elucidating the contribution of pontocerebellar fibers and other structures to motor control. LEVEL OF EVIDENCE: V.

The meanings of physiotherapy and exercise for people living with progressive cerebellar ataxia: an interpretative phenomenological analysis.

PURPOSE: To understand the meanings of exercise and physiotherapy for people living with a progressive cerebellar ataxia. METHOD: An interpretative phenomenological analysis was undertaken with 12 participants (4 women, 8 men) recruited via their membership of a national support group. Semistructured interviews were audiorecorded and transcribed. Data were analyzed using interpretivist methods. RESULTS: Two main themes were constructed. Firstly, participants highly valued building collaborative and supportive long-term therapeutic relationships with expert physiotherapists and were not necessarily looking to improve ataxia-related impairments. Secondly, self-devised exercise conferred multiple psychosocial benefits that were largely absent from physiotherapist-prescribed home exercise programs. CONCLUSION: People living with ataxia recounted uniquely situated and contextualized understandings of exercise and physiotherapy that may differ significantly from the meaning of these terms to physiotherapists. Special attention should be given to patients' perspectives in order to provide services that are meaningful and valued by people living with ataxia. Implications for Rehabilitation Physiotherapists should consider exploring the meaning of exercise and physiotherapy with individual patients to inform appropriate exercise prescription and advice. Poorly managed and inexpertly prescribed home exercise programs risk inadvertently disregarding the possible positive psychosocial effects of exercise participation and may prevent long-term engagement. To sustain long-term engagement prescribed exercises should be enjoyable, meaningful, satisfying and appropriately challenging. Physiotherapists should consider providing sustained, collaborative and flexible services.

Effect of Restraining the Base of Support on the Other Biomechanical Features in Patients with Cerebellar Ataxia.

This study aimed to analyze the biomechanical consequences of reducing the base of support in patients with ataxia. Specifically, we evaluated the spatio-temporal parameters, upper- and lower-body kinematics, muscle co-activation, and energy recovery and expenditure. The gaits of 13 patients were recorded using a motion analysis system in unperturbed and perturbed walking conditions. In the latter condition, patients had to walk using the same step width and speed of healthy controls. The perturbed walking condition featured reduced gait speed, step length, hip and knee range of motion, and energy recovery and increased double support duration, gait variability, trunk oscillation, and ankle joint muscle co-activation. Narrowing the base of support increased gait instability (e.g., gait variability and trunk oscillations) and induced patients to further use alternative compensatory mechanisms to maintain dynamic balance at the expense of a reduced ability to recover mechanical energy. A widened step width gait is a global strategy employed by patients to increase dynamic stability, reduce the need for further compensatory mechanisms, and thus recover mechanical energy. Our findings suggest that rehabilitative treatment should more specifically focus on step width training.

Peripheral and central fatigue after high intensity resistance circuit training.

INTRODUCTION: The aim of this study was to investigate the effects of high intensity resistance circuit (HIRC) and traditional strength training (TST) on neuromuscular fatigue and metabolic responses. METHODS: Twelve trained young subjects performed HIRC and TST in a counterbalanced order with 1 week rest in-between. The amount of workload and the inter-set time for each local muscle group were matched (180 s), however, the time between successive exercises differed. The twitch interpolation technique was used to test neuromuscular function of the knee extensor muscles. Blood lactate concentration was used to evaluate metabolic responses. RESULTS: Maximum voluntary contraction and resting potentiated twitch amplitude (Qtw ) were significantly reduced after HIRC, but there were not changes after TST, while reductions in voluntary activation were similar. Lactate concentration increased significantly more after HIRC. CONCLUSIONS: The higher lactate concentration after HIRC probably impaired excitation-contraction coupling, indicating larger peripheral fatigue than after TST. Muscle Nerve 56: 152-159, 2017.

Rehabilitation of the Pontine Ataxia-Dysmetria Syndrome.

We present a case of a patient with significant ataxia and dysmetria following a lacunar pontine infarction and review the literature on this uncommon syndrome. The patient had an excellent clinical course with near resolution of symptoms and signs in less than 3 weeks. We illustrate the patient's ataxia and dysmetria with videos and also use the videos to demonstrate and characterize the features of the dysmetria. Interestingly, the characteristics of the dysmetria appear to be different from those seen in patients with dysmetria arising from a cerebellar or thalamic lesion. We discuss the likely neurophysiologic mechanisms responsible for the condition and recovery. Simple noninvasive study of patients with ataxia and dysmetria secondary to a pontine lacunar infarct may be most helpful in elucidating the contribution of pontocerebellar fibers to motor control. LEVEL OF EVIDENCE: V.

The effect of a task-specific locomotor training strategy on gait stability in patients with cerebellar disease: a feasibility study.

PURPOSE: There is a lack of evidence-based recommendations for the physiotherapeutic intervention specifically for locomotor training in patients with cerebellar ataxia. The purpose of this study is to determine the feasibility and effect of a more specific rehabilitation strategy that aims to improve gait quality in patients with cerebellar ataxia. METHODS: Nineteen patients with degenerative cerebellar ataxia were recruited to participate in the study. The patients participated in a 12-week locomotor training program, two times per week for 1.5 h per session (a total of 24 training sessions). The treatment approach emphasized the relearning of proper gait movement strategies through intensive practice that enhances the patient's perception and control of the essential components of normal gait movement. RESULTS: A quantitative analysis of step-by-step gait performance indicated that postural sway during locomotion was reduced, and the gait movement pattern became more consistent after the 12-week locomotor training program. These improvements in gait stability persisted over the 3-month period following intervention. CONCLUSION: This study provides preliminary evidence that learning-based rehabilitation strategies targeting disease-specific locomotion symptoms may be helpful for reducing ataxic gait and improving motor control during walking in patients with cerebellar dysfunction. Implications for rehabilitation Physiotherapeutic interventions that aim to promote gait stability in cerebellar patients need to create a specific learning context that improve disease-related gait deficits. It is desirable to use explicit instructions to facilitate the conscious awareness and control of body center and posture. As patients reacquire the fundamental gait ability, providing training experience with various locomotor tasks that facilitate the transfer of learning may be helpful to increase generalizability of locomotor intervention.