Developing an Instrumented Measure of Upper Limb Function in Friedreich Ataxia.

Upper limb function for people with Friedreich ataxia determines capacity to participate in daily activities. Current upper limb measures available do not fully capture impairments related to Friedreich ataxia. We have developed an objective measure, the Ataxia Instrumented Measure-Spoon (AIM-S), which consists of a spoon equipped with a BioKin wireless motion capture device, and algorithms that analyse these signals, to measure ataxia of the upper limb during the pre-oral phase of eating. The aim of this study was to evaluate the AIM-S as a sensitive and functionally relevant clinical outcome for use in clinical trials. A prospective longitudinal study evaluated the capacity of the AIM-S to detect change in upper limb function over 48 weeks. Friedreich ataxia clinical severity, performance on the Nine-Hole Peg Test and Box and Block Test and responses to a purpose-designed questionnaire regarding acceptability of AIM-S were recorded. Forty individuals with Friedreich ataxia and 20 control participants completed the baseline assessment. Thirty individuals with Friedreich ataxia completed the second assessment. The sensitivity of the AIM-S to detect deterioration in upper limb function was greater than other measures. Patient-reported outcomes indicated the AIM-S reflected a daily activity and was more enjoyable to complete than other assessments. The AIM-S is a more accurate, less variable measure of upper limb function in Friedreich ataxia than existing measures. The AIM-S is perceived by individuals with Friedreich ataxia to be related to everyday life and will permit individuals who are non-ambulant to be included in future clinical trials.

The role of robotic gait training and tDCS in Friedrich ataxia rehabilitation: A case report.

RATIONALE: Friedrich ataxia (FA) is the most common inherited neurodegenerative cerebellar ataxic syndrome. In patients with FA, physiotherapy is highly recommended to improve motor function outcome. Cerebellar transcranial direct current stimulation (tDCS) has been demonstrated to be effective in improving symptoms by modulating cerebellar excitability. Recently, robotic rehabilitation with Lokomat-Pro has been used to treat motor impairment in ataxic syndromes by "modulating" cortical plasticity and cerebello-motor connectivity. PATIENT CONCERNS: A 29-year-old Italian male with FA, come to our Institute to undergo intensive rehabilitation training. He presented a moderate-to-severe spastic tetraparesis, brisk deep tendon reflexes, moderate dysarthria, occasional difficulty in speaking, and mild delay in swallowing. He was able to stand for at least 10 seconds in the natural position with constant support, and thus he used a wheelchair. DIAGNOSIS: Tetraparesis in a young patient with FA. INTERVENTIONS: The effects of a stand-alone robotic gait training with Lokomat-Pro preceded by cerebellar anodal tDCS (a-tDCS) versus Lokomat-Pro preceded by cathodal-tDCS (c-tDCS) are compared. OUTCOMES: The coupled approach (i.e., tDCS and Lokomat) demonstrated better improvement in functional motor outcomes on the Scale for the Assessment and Rating of Ataxia (SARA). LESSONS: Although only a single case is described, we found that the combined neuromodulation-neurorobotic approach could become a promising tool in the rehabilitation of cerebellar ataxias, possibly by shaping cerebello-cerebral plasticity and connectivity.

Automated functional upper limb evaluation of patients with Friedreich ataxia using serious games rehabilitation exercises.

BACKGROUND: Friedreich ataxia (FRDA) is a disease with neurological and systemic involvement. Clinical assessment tools commonly used for FRDA become less effective in evaluating decay in patients with advanced FRDA, particularly when they are in a wheelchair. Further motor worsening mainly impairs upper limb function. In this study, we tested if serious games (SG) developed for rehabilitation can be used as an assessment tool for upper limb function even in patients with advanced FRDA. METHODS: A specific SG has been developed for physical rehabilitation of patients suffering from neurologic diseases. The use of this SG, coupled with Kinect sensor, has been validated to perform functional evaluation of the upper limbs with healthy subjects across lifespan. Twenty-seven FRDA patients were included in the study. Patients were invited to perform upper limb rehabilitation exercises embedded in SG. Motions were recorded by the Kinect and clinically relevant parameters were extracted from the collected motions. We tested if the existence of correlations between the scores from the serious games and the severity of the disease using clinical assessment tools commonly used for FRDA. Results of patients were compared with a group a healthy subjects of similar age. RESULTS: Very highly significant differences were found for time required to perform the exercise (increase of 76%, t(68) = 7.22, P < 0.001) and for accuracy (decrease of 6%, t(68) = - 3.69, P < 0.001) between patients and healthy subjects. Concerning the patients significant correlations were found between age and time (R = 0.65, p = 0.015), accuracy (R = - 0.75, p = 0.004) and the total displacement of upper limbs. (R = 0.55, p = 0.031). Statistically significant correlations were found between the age of diagnosis and speed related parameters. CONCLUSIONS: The results of this study indicate that SG reliably captures motor impairment of FRDA patients due to cerebellar and pyramidal involvement. Results also show that functional evaluation of FRDA patients can be performed during rehabilitation therapy embedded in games with the patient seated in a wheelchair. TRIAL REGISTRATION: The study was approved as a component of the EFACTS study ( Clinicaltrials.gov identifier NCT02069509 , registered May 2010) by the local institutional Ethics Committee (ref. P2010/132).

Impact of Mobility Device Use on Quality of Life in Children With Friedreich Ataxia.

OBJECTIVE: To determine how mobility device use impacts quality of life in children with Friedreich ataxia. STUDY DESIGN: Data from 111 pediatric patients with genetically confirmed Friedreich ataxia were collected from a prospective natural history study utilizing standardized clinical evaluations, including health-related quality of life using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Module. RESULTS: Mobility device use was associated with worse mean PedsQL total, physical, emotional, social, and academic subscores, after adjusting for gender, age of disease onset, and Friedreich Ataxia Rating Scale score. The magnitude of the difference was greatest for the physical subscore (-19.5 points, 95% CI = -30.00, -8.99, P < .001) and least for the emotional subscore (-10.61 points, 95% CI = -20.21, -1.02, P = .03). Transition to or between mobility devices trended toward worse physical subscore (-16.20 points, 95% CI = -32.07, -0.33, P = .05). CONCLUSIONS: Mobility device use is associated with significant worsening of all domains of quality of life in children with Friedreich ataxia.

Can rehabilitation improve the health and well-being in Friedreich's ataxia: a randomized controlled trial?

OBJECTIVE: To determine the effectiveness of a six-week rehabilitation programme followed by a home exercise programme for Friedreich's ataxia. DESIGN: Randomized, delayed-start control single-blind trial. SETTING: Outpatient rehabilitation centre. SUBJECTS: Ambulant or non-ambulant individuals with Friedreich's ataxia. INTERVENTION: Participants were randomized to a six-week outpatient rehabilitation programme, immediately (intervention group) or after a six-week delayed-start (control group). The rehabilitation was followed by a six-week home exercise programme. MAIN MEASURES: The primary outcome was the Functional Independence Measure. Other measures included the Friedreich Ataxia Impact Scale and the Friedreich Ataxia Rating Scale. Outcomes were administered at baseline, 6, 12 and 18 weeks. RESULTS: Of 159 individuals screened, 92 were excluded and 48 declined to participate. A total of 19 participants were enrolled in the study. There was no significant difference in Functional Independence Measure change from baseline to six weeks in the intervention group (mean ± standard deviation, 2.00 ± 3.16) as compared to the control group (0.56 ± 4.06). Change in the Friedreich Ataxia Impact Scale body movement subscale indicated a significant improvement in health and well-being in the intervention group compared to the control group ( P = 0.003). Significant within-group improvements in the Friedreich Ataxia Impact Scale and the motor domain of the Functional Independence Measure post-rehabilitation were not sustained post-home exercise programme. CONCLUSION: Our study indicates that rehabilitation can improve health and well-being in individuals with Friedreich's ataxia; however, a larger study is required to have sufficient power to detect a significant change in the most sensitive measure of function, the motor domain of the Functional Independence Measure.

Friedreich's Ataxia: dance and somatic education a case report

This research aims to determine the effects of a dance program in dialogue with somatic education in psychomotor aspects in a subject with Friedreich ataxia. We used the research method intra-subject BAB design, were phase "B" comprises the treatment phase through interventions with stimuli, and "A" the stimuli are removed. We performed a dance program with 24 interventions on a subject with Friedreich Ataxia, and assessed pre- and post-program through the Monitoring Instrument Learning in Educational Dance. The results showed that the dance program with somatic education can improve the analyzed skills: getting up, sitting, shifting feet, shifting the ground, sitting position, body image, movement rhythm, and fluency movement.(AU)

A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study.

The aim of this pilot study is to test the feasibility and effectiveness of a wearable proprioceptive stabilizer that emits focal mechanical vibrations in patients affected by hereditary cerebellar ataxias. Eleven adult patients with a confirmed genetic diagnosis of autosomal dominant spinocerebellar ataxia or Friedreich's ataxia were asked to wear an active device for 3 weeks. Assessments were performed at baseline, after the device use (T1), and 3 weeks after (T2). SARA, 9-HPT, PATA, 6MWT, and spatial and temporal gait parameters, measured with a BTS-G-Walk inertial sensor, were used as study endpoints. As expected, no adverse effects were reported. Statistically significant improvements in SARA, 9HPT dominant hand, PATA test, 6MWT, cadence, length cycle, support right/cycle, support left/cycle, flight right/cycle, flight left/cycle, double support right/cycle, double support left/cycle, single support right/cycle, and single support left/cycle were observed between T0 and T1. All parameters improved at T1 did not show statistically significant differences a T2, with the exception of length of cycle. This small open-labeled study shows preliminary evidence that focal mechanical vibration exerted by a wearable proprioceptive stabilizer might improve limb and gait ataxia in patients affected by hereditary cerebellar ataxias.

Emerging therapies in Friedreich's ataxia.

Friedreich's ataxia (FRDA) is an inherited, progressive neurodegenerative disease that typically affects teenagers and young adults. Therapeutic strategies and disease insight have expanded rapidly over recent years, leading to hope for the FRDA population. There is currently no US FDA-approved treatment for FRDA, but advances in research of its pathogenesis have led to clinical trials of potential treatments. This article reviews emerging therapies and discusses future perspectives, including the need for more precise measures for detecting changes in neurologic symptoms as well as a disease-modifying agent.

Perceived effectiveness and barriers to physical therapy services for families and children with Friedreich ataxia.

PURPOSE: To describe the frequency, type, and perceived effectiveness of physical therapy interventions for children with Friedreich ataxia (FA); identify barriers to therapy; and solicit advice from parents. METHOD: Parents of 30 children with FA participated in semistructured interviews. Qualitative and quantitative methods were used to analyze the data. RESULTS: Sixty-seven percent of children received direct physical therapy service. Stretching and strengthening exercises were used most frequently, and their perceived usefulness increased as the children aged. Seventy-three percent received home exercise programs; 9% implemented these consistently. External barriers included a lack of expert providers and limited reimbursement. Internal barriers included limited time and energy, lack of awareness of services, and children's preferences not to be treated differently. Parents advised therapists to become experts, advocates, and use approaches based on family and child preferences. CONCLUSIONS: Outcomes provide a starting point for developing further research, education, and effective interventions for children with FA.

"Six sessions is a drop in the ocean": an exploratory study of neurological physiotherapy in idiopathic and inherited ataxias.

OBJECTIVE: An exploratory study to examine specialist neurological physiotherapy service provision and utilisation for people with progressive ataxia. DESIGN: Qualitative study involving thematic analysis of accounts in semi-structured interviews with physiotherapists and patients. SETTING: People with ataxia and specialist neuro-rehabilitation physiotherapists in Greater Manchester, UK. PARTICIPANTS: 38 people with ataxia and 8 neurological-physiotherapists working in academic and hospital and community-based services in NHS and private settings. Recruiting physiotherapists experienced in working with the patient group was a challenge. INTERVENTIONS: One hour cross-sectional semi-structured interview at physiotherapists' workplaces or in patients' own homes. RESULTS: Neurological physiotherapy was experienced by 25 (66%) of the 38 people with ataxia. The overarching themes emerging from the analysis were 'making a difference,' engagement and service provision. A majority of both samples felt that services should be organised so as to provide longer term therapy and support that goes beyond short care packages followed by provision of home exercise programme. Engagement with services was linked to patient expectations, adherence and perception of outcomes. The most predominant codes in the data set were encapsulated by the theme 'making a difference,' which further included concerns about how to measure perceived clinical improvement (as experienced by patients) in the context of progressive decline. CONCLUSIONS: The findings suggest a model of idealised service provision involving a holistic, open-access service including research efforts to improve the evidence base. Special attention needs to be paid to measuring improvements following therapy.

Retrospective study of the effects of inpatient rehabilitation on improving and maintaining functional independence in people with Friedreich ataxia.

OBJECTIVES: To determine the effects of inpatient intervention for people with Friedreich ataxia (FRDA), and to identify whether improvements gained were sustained postdischarge. DESIGN: This retrospective observational cohort study comprised people with FRDA admitted to inpatient rehabilitation. SETTING: All participants in the study were referred by a specialist multidisciplinary FRDA clinic to inpatient rehabilitation. PARTICIPANTS: From 2003 until 2010, people (N=29; men, n=17; women, n=12) with FRDA were admitted to rehabilitation, representing 42 admissions. On admission, 9 participants were ambulant and 33 participants were nonambulant. INTERVENTIONS: Each participant was prescribed goal-related therapy on an individual basis by the multidisciplinary team, and this consisted of a range of treatment approaches. MAIN OUTCOME MEASURE: The FIM was used to determine the efficacy of inpatient rehabilitation. RESULTS: Consistent with the progressive nature of the condition, FIM scores, as measured on an annual basis preintervention, declined over time. However, FIM scores increased by a mean of 8.5 points during periods of inpatient rehabilitation and continued to increase by a mean of 2.0 points during the period immediately after rehabilitation. Results demonstrate these increases during and immediately after inpatient rehabilitation were significant (P<.001). CONCLUSIONS: To the best of our knowledge, this study provides the first evidence that a period of inpatient rehabilitation reverses or halts the downward decline in function for people with FRDA. The benefits from this intervention continued during the period immediately after inpatient rehabilitation, indicating that these gains are more than just short-term achievements. Further exploration of intensity, type, and length of rehabilitation is required to ensure that the most appropriate rehabilitation is provided.

Articulatory kinematics in the dysarthria associated with Friedreich's ataxia.

Electromagnetic articulography (EMA) was used to investigate the tongue kinematics in the dysarthria associated with Friedreich's ataxia (FRDA). The subject group consisted of four individuals diagnosed with FRDA. Five nonneurologically impaired individuals, matched for age and gender, served as controls. Each participant was assessed using the AG-200 EMA system during six repetitions of the tongue tip sentence Tess told Dan to stay fit and the tongue back sentence Karl got a croaking frog. Results revealed reduced speed measures (i.e., maximum acceleration / deceleration / velocity), greater movement durations and increased articulatory distances for the approach phases of consonant productions. The approach phase, involving movement up to the palate, was more affected than the release phase. It is suggested that deviant lingual kinematics could be the outcome of disturbances to cerebellar function, or possibly in combination with disturbances to upper motor neuron systems.

[Disability and occupational therapy in patients with Friedreich's ataxia]. / Disabilità e terapia occupazionale nei pazienti con atassia di Friedreich.

Friedreich ataxia (FA) is a neurodegenerative disease characterized by a progressive course resulting in severe disability. The occupational therapy (OT) is aimed to facilitate task performance by improving relevant performing skills or developing and teaching compensatory strategies to overcome lost performances. This study was aimed to investigate the role of OT in FA subjects carried out with sequential treatments performed during a scheduled time period. Neurological deficits, physical performances, and quality of life were evaluated with appropriate outcome measures in 10 subjects with FA who underwent three different in-hospital rehabilitation periods in one year. The baseline evaluation was performed at the beginning of the rehabilitation treatment and the final one at the end. The observed long-lasting stability of the neurological deficits and the increased functional independence of FA subjects may be considered a remarkable outcome indicating that sequential OT treatments may contribute to limit the progression of disability and maintain the participation in the everyday activities. OT and neuromotor rehabilitation may contribute to recover common abilities of FA patients representing the correct approach to the management of the disease.

Evaluation of neuropsychological functions in patients with Friedreich ataxia before and after cognitive therapy.

Friedreich ataxia (FA) is a neurodegenerative disease characterized by progressive nervous system damage resulting in severe disability. Cognitive functions and mood disorders in FA have been studied little and with conflicting results. The aim of this study was to investigate cognitive functions and mood disorders in FA subjects and the role of cognitive rehabilitation therapy (sequential treatments) performed during a scheduled study period. The executive functions of 24 subjects with FA were evaluated over one year during three separate periods of in-hospital rehabilitation. The neuropsychological evaluations performed before and after cognitive therapy did not reveal differences in the mean test scores of the MMSE, the Rey 15-item Memorization Test for long-term memory, Raven's Colored Progressive Matrices, the Phonemic Verbal Fluency Test, the Symbol Digit Modalities Test, or the Zung scale. The mean scores of the Stroop color-word interference task and of the Rey 15-item Memorization Test for short-term memory were increased at the final evaluation. This finding of long-lasting stability of neuropsychological test scores is noteworthy, as it suggests that one-year cognitive rehabilitation therapy (sequential treatments) may at least contribute to reducing cognitive decline. A cognitive rehabilitation therapy in addition to the conventional neuromotor rehabilitation treatment may improve the management of subjects with FA.

Design of an iconic communication aid for individuals in India with speech and motion impairments.

India is home to a large number of individuals with significant speech and motion impairments. Many of these individuals are children and neo-literates who have little proficiency in their language of communication. In order to cater to such individuals in India, we have developed Sanyog, an icon-based communication aid. Sanyog accepts a sequence of icons as input and converts the input sequence to a grammatically correct sentence. Conversion of an iconic sequence to a sentence requires linguistic knowledge and resources that are not available for Bengali and Hindi, the two Indian languages for which Sanyog was developed. To overcome this problem, we have developed a novel user-computer interaction model. The interaction is facilitated by a suitably designed interface. The interaction model and the interface designed for Sanyog are presented in this article.

Orthopedic shoes improve gait in Friedreich's ataxia: a clinical and quantified case study.

Our aim was to evaluate with modern tools the efficacy of orthopedic shoes on gait disorders in Friedreich's ataxia. The case of a 26-year-old woman with Friedreich's ataxia is described. She mainly complained of fatigability, ankle instability, frequent falls and pain. Impairments involved a cerebellar syndrome, a proprioceptive deficit, an upper motor neurone syndrome and osteoarticular deformities. Gait disabilities included ataxia and requirement of a cane. Handicap concerned outings, altering quality of life. Orthopedic shoes combined with physical therapy were prescribed. Assessment of treatment was planned after one month. Self-assessment by the patient was noted. Clinical assessment was provided by physical examination and clinical gait analysis supported by video. Quantified assessment was performed with a Gaitrite system recording spatiotemporal gait parameters. Our results demonstrated that orthopedic shoes improved gait disorders in this patient with Friedreich's ataxia. Pain decreased, walking distance increased, falls were less frequent, going out became possible, stability was better, speed, step length and cadence increased. Both clinical and quantified assessment confirmed functional improvement felt by the patient. In conclusion complete medical and social assessment determines quality of prescription in physical and rehabilitation medicine.

[Diagnosis of a Friedreich's ataxia: contribution of electrophysical explorations]. / Diagnostic d'ataxie de Friedreich: apport des explorations neurophysiologiques.

UNLABELLED: The monitoring of scoliosis treatment can lead to discover its cause. CASE REPORT: A 16-year-old patient was allowed in Center of Functional Rehabilitation for intensive orthopaedic treatment of a severe scoliosis. Electrophysiological explorations carried out within the framework of the monitoring of this treatment detected an axonal neuropathy with sensitive prevalence, whose association with clinical signs made it possible to diagnose Friedreich's disease, then confirmed by molecular biology. CONCLUSION: Electrophysiological examination is useful in a Rehabilitation Center within the framework of the monitoring of the treatment proposed, more especially as it can make it possible to direct a diagnosis.

Presentation and progression of Friedreich ataxia and implications for physical therapist examination.

Friedreich ataxia, although rare, is the most prevalent inherited ataxia. Recent insight into the disease pathogenesis is creating new hope for effective therapies. The purposes of this update are: (1) to review the etiology, presentation, and progression of Friedreich ataxia and (2) to describe a comprehensive physical therapist examination emphasizing valid and reliable performance measurements associated with disease progression. Early identification of individuals with Friedreich ataxia and precise characterization of impairments and functional limitations gain importance as new drug therapies are considered.