Effects of a Supervised Rehabilitation Program on Disease Severity in Spastic Ataxias

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.

Patients will be asked about the possibility of changing their medication. A list of medications will also be provided by the pharmacy.

Patients weight in kilograms

Patients height in meters

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)

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).

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.

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.

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).

The Barthel Index will assess the level of independence in performing daily living activities.

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).

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.

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.

3 x 10ml EDTA tubes will be collected to obtain 6 x 0.5ml cryovials of plasma (protein)

3 x 10ml EDTA tubes will be collected to obtain 3 x 2ml cryovials of Buffy Coat (DNA).

3 x 5ml SST serum tubes will be collected to obtain 12 x 0.5ml serum (protein) cryovials.

3 PAXgene 2.5ml tubes (RNA) will be collected and frozen as is.

10 ml of urine will be collected and separated into 12 cryovials of 0.5 ml.

12 ml of saliva will be collected to obtain 12 cryovials of 0.5 ml.

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.

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.

It will be measured using the Lower Extremity Motor Coordination Test. It is a reliable tool in ARSACS (ICC = 0.82-0.99).

Peak expiratory flow (PEF) is the maximum speed at which air can be expelled from the lungs during forced expiration.

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

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.

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.

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).

Brief Pain Inventory Short Form

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).

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.

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.

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).

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).

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.

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.

Force platform

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.