Spastic ataxias are a group of diseases causing symptoms such as walking difficulties and balance impairments that lead to a high risk of falls. No pharmacological treatments exist to treat these diseases. Unfortunately, little effort is made to develop non-pharmacological treatments specific to spastic ataxias despite the detrimental impact of the disease on several aspects of an individual's life and the high cost of falls for society each year. The three objectives of this project are: 1) to determine the effect of a 12-week rehabilitation program on disease severity as compared with usual care for individuals with spastic ataxias; 2) to identify which factors can help (or not) the implementation of the program in the clinical settings ("reel world"); and 3) to explore the cost-benefits of IMPACT \[rehabIlitation prograM for sPAstiC aTaxias\]. The team has developed the program to specifically target symptoms present in these patients and was previously pilot-tested. Based on the results obtained in this pilot project, positive effects are expected concerning the disease severity of participants. The investigators want, with this project, provide to health care professionals an option to offer better-suited services to people living with spastic ataxia worldwide.
Study Type
INTERVENTIONAL
Allocation
RANDOMIZED
Purpose
SUPPORTIVE_CARE
Masking
SINGLE
Enrollment
84
The rehabilitation program will last 12 weeks and consists of three training sessions of 60 minutes per week (2 sessions in a therapy room and 1 session in an adapted pool with multiple levels of water) for a total of 36 sessions. Participants will be divided into 7 subgroups of 6 participants and each sub-group will be supervised by one physiotherapist (PT) and one physiotherapy technologist for safety considerations. It will focus on these three domains: 1) postural control; balance, trunk-limbs and multi-joints control and coordination and 3) functional mobility. Each domain contains a standardized list of exercises with different difficulty levels and specific times allocation. All exercises will be executed by the participants at each session at the appropriate difficulty level. The initial level of difficulty for each exercise will be determined by the PT based on individual results of the pre-intervention assessment and on individual performance, fatigue level and safety.
CIUSSS de la Capitale-Nationale, Hôpital de Baie-Saint-Paul
Baie-Saint-Paul, Quebec, Canada
NOT_YET_RECRUITINGCIUSSS de la Capitale-Nationale, Hôpital de La Malbaie
La Malbaie, Quebec, Canada
NOT_YET_RECRUITINGCIUSSS du Centre-Sud-de-l'Île-de-Montréal, installation Centre de réadaptation Lucie-Bruneau
Montreal, Quebec, Canada
RECRUITINGCIUSSS de la Capitale-Nationale, installation IRDPQ
Québec, Quebec, Canada
RECRUITINGClinique des maladies neuromusculaires du Centre intégré universitaire de santé et de services sociaux (CIUSSS) du Saguenay-Lac-Saint-Jean, installation Hôpital Jonquière
Saguenay, Quebec, Canada
RECRUITINGSeverity of ataxia
The severity of ataxia assessed using the Scale for the assessment and rating of Ataxia (SARA) has been chosen as the main variable based on several considerations. 1) it is one of the most widely used scales among recessive cerebellar ataxias in intervention studies, 2) it includes lower limbs motor impairments-induced mobility limitations items, 3) is significantly correlated with key impairments variables such as standing balance and walking speed, 4) and is a candidate for outcome measurement in foreseeable clinical trials. It has eight categories with accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia) It showed evidence of adequate content validity and excellent construct validity and internal consistency in ARSACS and we recently validated the French version.
Time frame: 64 weeks
Medication change
Patients will be asked about the possibility of changing their medication. A list of medications will also be provided by the pharmacy.
Time frame: 64 weeks
Weight
Patients weight in kilograms
Time frame: 64 weeks
height
Patients height in meters
Time frame: 64 weeks
Physical activities
The Rapid Assessment of Physical Activity (RAPA) is a questionnaire used to assess physical activity levels. Each question has a 'Yes' or 'No' option. The total score of the first seven items is out of 7; participants choose which question corresponds to their activity level. Any score less than 6 is considered suboptimal. Strength training and flexibility are scored separately (strength training = 1, flexibility = 2, both = 3)
Time frame: 64 weeks
Walking speed.
The 10-meter walk test will be used to assess the short-distance walking speed at comfortable and maximum speeds. The validity and reliability of the 10mWT are both excellent in ARSACS (ICC = 0.99).
Time frame: 64 weeks
Standing balance
Berg balance scale will be used to assess balance and risk of falling. Its validity has been demonstrated in ARSACS.18 Participants' level of confidence in their balance will be assessed using the simplified balance confidence scale specific to daily activities It has 14 (0-4) categories with accumulative score ranging from 0 to 56. Interpretation: 0-20, wheelchair bound; 21-40, walking with assistance; 41-56, independent.
Time frame: 64 weeks
Balance confidence
Activities specific balance confidence-simplified (ABC-S) scale will aslo be use to assess balance (0-3 likert scale) This questionnaire includes 15 evaluation items, rated from 0 (not at all confident) to 3 (very confident), according to the person's confidence in maintaining their balance when performing various activities. The total score ranges from 0 (minimum confidence) to 45 (maximum confidence), and is obtained by adding together the scores for each item and converting them into a percentage.
Time frame: 64 weeks
Sitting balance
Sitting balance and trunk control will be assessed with the Ottawa sitting scale (OSS). The first six items are tested with the participant's feet on the ground ( /24) and the next six with the feet off the ground ( /24). The total score is calculated by adding together the scores for the two subsections (maximum score out of /48).
Time frame: 64 weeks
Activities of Daily Living
The Barthel Index will assess the level of independence in performing daily living activities.
Time frame: 64 weeks
Muscle tone
Lower limb muscle tone (spasticity) will be measured with the modified Ashworth scale. Score each muscle group evaluated according to the table below. \*Scoring is performed within the available range of motion. 0: No increase in muscle tone. 1: Discrete increase in muscle tone manifested by a twitch followed by release or by minimal resistance at the end of the movement. 1+: Discrete increase in muscle tone manifested by a twitch followed by minimal resistance perceived over less than half the joint amplitude. 2: More marked increase in muscle tone affecting most of the joint amplitude, the joint being easily mobilized. 3: Significant increase in muscle tone making passive mobilization difficult. 4: Affected joint is fixed (no passive movement possible).
Time frame: 64 weeks
Life habits
The Assessment of Life Habits Questionnaire 4.0. (LIFE-H) was used to assess participation. It includes a total of 96 activities with one total score, two subscores (daily activities and social activities) and 12 domains divided equally between both subscores. For each activity, the level of accomplishment, type of assistance required and level of satisfaction are rated. Accomplishment includes the difficulty level and assistance required: a mean score of "0" refers to a complete disruption of participation (i.e. activity not accomplished), and "10" refers to full participation (i.e. activity accomplished without difficulty and assistance). The satisfaction level is measured on a 4-point scale, where a higher score indicates higher satisfaction ("4"). For the 3.0 version, a change of 0.5 (/9) is considered a minimal clinically important difference but is not documented for the version 4.0.
Time frame: 64 weeks
Community mobility
The daily rest-activity pattern will be assessed using an ActiGraph wGT3X-BT activity monitor worn on the nondominant arm for 7 consecutive days before and after the intervention period. Intradaily variability and interdaily stability (IS), M10 (most active 10-hours), L5 (least active 5-hours), and relative amplitude (RA) will be derived using nonparametric rhythm analysis. The patient's perception of mobility limitations will be measured by the Life Space Assessment questionnaire.
Time frame: 7 consecutives days, 2 times
Plasma
3 x 10ml EDTA tubes will be collected to obtain 6 x 0.5ml cryovials of plasma (protein)
Time frame: 64 weeks
DNA
3 x 10ml EDTA tubes will be collected to obtain 3 x 2ml cryovials of Buffy Coat (DNA).
Time frame: 64 weeks
Serum
3 x 5ml SST serum tubes will be collected to obtain 12 x 0.5ml serum (protein) cryovials.
Time frame: 64 weeks
RNA
3 PAXgene 2.5ml tubes (RNA) will be collected and frozen as is.
Time frame: 64 weeks
Urine
10 ml of urine will be collected and separated into 12 cryovials of 0.5 ml.
Time frame: 64 weeks
Saliva
12 ml of saliva will be collected to obtain 12 cryovials of 0.5 ml.
Time frame: 64 weeks
Mobility Life-space
Life-Space Assessment (LSA-F) is a 20-items questionnaire measures the extent of mobility, taking into account the person's interactions with the environment. It assesses mobility habits in five living environments: the rooms of the home (or living unit for people living in sheltered housing), the surroundings of the home (or living unit/housing environment), the neighborhood, the city and outside the city. Mobility area - Composite score, which is obtained by combining the level of mobility area achieved, the frequency of travel in each mobility area and the assistance required (technical aid and/or assistance of a person) to get there. The score ranges from 0 to 120, where 120 corresponds to an unrestricted mobility area.
Time frame: 64 weeks
Ataxia impact scale
Person-reported ataxia impact scale (PRAIS) is self-administered questionnaire consists of 38 questions and aims to understand the impact of ataxia on daily life. A score out of 100 results.
Time frame: 64 weeks
Lower limb coordination
It will be measured using the Lower Extremity Motor Coordination Test. It is a reliable tool in ARSACS (ICC = 0.82-0.99).
Time frame: 64 weeks
Peak respiratory flow and cough
Peak expiratory flow (PEF) is the maximum speed at which air can be expelled from the lungs during forced expiration.
Time frame: 64 weeks
Fatigue
Fatigue will be assess with the Fatigue Severity Scale (FSS) This scale is a method of assessing the impact of fatigue on the subject. It is a short questionnaire that assesses the level of fatigue. The questionnaire contains nine statements that assess the severity of fatigue symptoms on a 7-level likert scale and produce a score between 9 and 63. A high score is a sign of fatigue
Time frame: 64 weeks
Falls.
The fall history with and without injury will be self-reported according to the recommendations of the group of Elley et al. Participants will have to complete every day a fall logbook and a research assistant will contact them each month to document the circumstances and consequences of falls including injuries and medical consultations.
Time frame: 64 weeks
Patient-reported impression of change.
The patients-global impression of change will be used (3 questions, 7-level Likert self-reported scale) to assess the impression of change.It is sensitive to change. This questionnaire gives the patient's perception. The higher the score, the worse the situation.
Time frame: 64 weeks
Anxiety and Depression
Hospital Anxiety and Depression scale will assess anxiety and Depression The HADS is a screening instrument for anxiety and depressive disorders. It comprises 14 items rated from 0 to 3. Seven questions relate to anxiety (total A) and seven to depression (total D), giving two scores (maximum score for each = 21).
Time frame: 64 weeks
Pain characteristics
Brief Pain Inventory Short Form
Time frame: 64 weeks
Functional lower extremity strength
The 30CST is a measurement that assesses functional lower extremity strength. The total number of correctly performed sit-to-stand repetitions is counted. If the participant is more than halfway upright when the 30 seconds have elapsed, count this as a repetition. If the participant is unable or unwilling to perform the test correctly, enter "0 repetitions" for each trial on the scoring sheet. The validity of the result of each test must be entered on the scoring sheet (valid or invalid).
Time frame: 64 weeks
Focus group with intervention group participants
Each participant will take part in one focus group after the rehabilitation program. Also, a semi-structured interview guide covering the 7 dimensions of the TFA will be used.
Time frame: 1 day
Focus groups with stakeholders
One focus group per site will be conducted before and after the intervention. In addition, during the rehabilitation program, each PT will be asked to fill out a journal of observations every week that includes the CFIR intervention items. In addition, the Determinant of Implementation Behavior. Questionnaire will be administered to PT and assistants at T0 and T3.
Time frame: 12 weeks
Lower limb muscle activation
It will be measured using surface EMG. Surface myoelectric signals will be recorded at 2000 HZ using a 16-channel wireless system (Trigno™ EMG, Delsys, MA, USA).
Time frame: 64 weeks
Quality of life
Quality of life will be assessed with SF-12 is a generic questionnaire that assesses health-related quality of life from the participant's point of view. It can be self-administered or completed during an interview. It comprises 12 assessment items, divided into 7 domains. The scoring system provides two quality-of-life scores (0 to 100: poor to excellent), i.e., a subtotal for mental and social quality of life (MCS) and a subtotal for physical quality of life (PCS).
Time frame: 64 weeks
CBA analyses and Willingness to pay
Estimating the costs related to the use of health services, falls with and without injuries, and improvement in quality of life and our health indicators (main and secondary outcomes). Using data collected in medical records and the hospitalization data, we will use different variables to take into account the use of health services such as: 1) visits physicians or health care professionals; 2) home visits by home-care professionals; and 3) emergency or hospital stays. We will also use the project's information relative to the cost of the rehabilitation program such as: 1) the number of hours of assessments and supervision of the program/type of professional and 2) the hourly rate of professionals. The cost of setting up a rehabilitation program will be estimated by combining human and material resources.
Time frame: 64 weeks
Gait's temporal parameters
The GAITRite system is a 14ft carpet containing sensors activated by pressure exerted by the feet and providing x and y coordinates. Then, the footprint analysis can provides the gait temporal parameters such as step time, step length, cadence and speed.
Time frame: 64 weeks
Stance balance
Force platform
Time frame: 64 weeks
Postural balance
Postural balance will be assess with the wobble chair. This test measures the postural balance of the trunk during a balance task in a seated position on an unstable chair, where only movements of the lumbar spine are allowed to restore balance.
Time frame: 64 weeks
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