Autosomal Dominant Spinocerebellar Ataxias and Social Cognition

this test evaluates the ability to recognize 6 fundamental and universal emotions: happiness, anger, sadness, fear, disgust and contempt. Each emotion is expressed by a different face at 9 levels of expressive intensity, ranging from 20% to 100%.

it assesses the ability to recognize social awkwardness (or faux-pas). Fictitious stories are presented to the person, in paper format: 5 stories contain faux-pas and 5 others do not. The person can reread them as many times as necessary, and must detect whether "someone said something they shouldn't have, or something awkward". If this is the case, she is asked 5 additional questions to assess her understanding of the clumsiness. Each story is followed by 2 comprehension questions, to rule out a comprehension problem. This task takes 20 minutes to administer. The test yields different scores: the higher the scores, the better the performance.

Thirty-six photographs of gazes (male and female) are presented to the participant, who is asked to select from 4 expression proposals the one that seems most appropriate to the subject's affective mental state (what he or she may be feeling). A lexicon, which can be consulted at will, is provided to the subject, to compensate for any uncertainties concerning the proposed items. The maximum score is 36 (1 point per correctly chosen item). The test takes 15 to 20 minutes to complete.

Subjects must put each image sequence, presented in random order, back into chronological order. There are 4 non-social scenarios, 4 true-belief scenarios and 4 false-belief scenarios for a 12-point score. The test begins with 2 practice trials. The test lasts 20 minutes.

This is an audiovisual, ecological and valid emotion recognition test. It tests subjects' ability to recognize basic emotions expressed by other people. It comprises 35 short video sequences (15 to 30 seconds) plus an example item. In each of these sequences, actors interpret everyday situations associated with one of the 6 basic emotions: joy, sadness, anger, surprise, disgust and fear. This task takes 20 minutes to administer. The test yields a total response score of between 0 and 35.

subject watches a 25-minute video featuring four young people meeting on a Saturday night. The video is broken down into 46 scenes. It is interrupted 45 times. Each time, a question is asked about mental states (what does a character feel/think, or what is their intention?). The person being evaluated is then given a choice of four responses, to be situated on a gradient ranging from a literal response (no theory of mind) to an over-interpretive response (too much theory of mind), via a response involving too little theory of mind to the correct response. The MASC calculates 5 scores: 1 comprehension score, 1 correct answers score ranging from 0 to 45 points and 3 error scores (wrong answers are divided into 3 categories: under-interpretation error, over-interpretation error and no interpretation). The higher the score of correct answers, the better the performance.

the participant must describe an interpersonal social problem, find a solution to this problem and/or implement this solution in a simulation with another person (cognitive TDE). This task also includes questions about feelings/emotions in these problem situations, thus assessing the affective component of TDE. A total of 10 stories involving social problems will be proposed. For 5 of them, the participant will have to produce verbal solutions, and for the other 5, act them out in a social role-playing situation, with a partner. The test lasts 40 minutes.

magnetic resonance imaging

This is a 10-subscale screening measure assessing attention and concentration, executive functioning, memory, language, visuospatial functioning, abstract thinking and major neuropsychiatric features. Each subscale is associated with a raw score and a pass/fail evaluation. The total raw score is a maximum of 120, and the total number of "failed" items is a maximum of 10. The test takes 15 to 20 minutes to complete.

It assesses 12 different types of behavior (delusions, hallucinations, agitation, depression, anxiety, euphoria, apathy, disinhibition, irritability, aberrant motor behaviors, sleep disorders, appetite disorders). It is based on the responses of an informed caregiver, preferably living with the patient. The severity and frequency of behavioral problems, and their impact on the caregiver, are listed. It can also be completed directly with the patient. Patients are asked to fill in the questionnaire (self- and hetero-assessment), together with their relative if applicable. The questionnaire takes 10 to 15 minutes to complete.

Items are scored on a 5-point scale: 1 (almost never), 2 (rarely), 3 (sometimes), 4 (often), 5 (almost always). Four scores are obtained: Total, Apathy, Disinhibition and Executive. Scores above T = 65 are considered clinically significant. The test lasts 10 minutes.

The test takes 10 minutes to complete. It comprises 14 items, rated from 0 to 3. Seven questions relate to anxiety and 7 to depression, giving 2 scores:

• An anxiety score between 0 and 21. The higher the score, the greater the presence of the disorder.
• A depression score between 0 and 21. The higher the score, the more the disorder is present.

It assesses the spontaneous attribution of intentions (particularly hostile intentions), the emotion felt and the behavioural response to ambiguous social situations.

Participants are asked to read each situation and imagine themselves in it. They are then asked to answer several questions to measure three scores: [1] a hostility bias, reflecting the degree of hostility they attribute to the other person's actions towards themselves; [2] a responsibility attribution score, which is the average of three evaluations on Likert scales : an intentionality score (whether the person acted intentionally); an anger score (how angry they would feel) and a blame score (how much they would blame the other person); [3] an aggression bias corresponding to the level of aggression in their response. The questionnaire lasts 20 minutes.

This enables 5 scores to be calculated: a total score out of 48 points and 4 sub-scores out of 12 points corresponding to each area. The questionnaire takes 20 minutes to complete. Patients and their relatives, if applicable, are asked to complete the questionnaire (self- and hetero-assessment).

This is a self-questionnaire (5-point Likert scale) that measures 5 dimensions: (1) difficulty identifying emotional states The total score is between 20 and 100. The questionnaire takes 5 to 10 minutes to complete.

It assesses the degree of emotional awareness in relation to oneself and others. The PECS-B version includes 20 stories and assesses the participant's ability to describe their own emotions and those of others in each story. The score is between 0 and 100. The questionnaire takes 10 to 20 minutes to complete.

magnetic resonance imaging: imaging analysis (structure, functions, connectivities)

duration in months of disease progression

This is a quick and easy-to-use 40-point scale with 8 items assessing walking, posture, sitting position, articulation, finger pursuit, finger/nose test, rapid alternating movements and movement of the heel on the contralateral tibia. The higher the score, the greater the severity of the ataxia. The SARA is a scale initially validated for vascular spinocerebellar ataxia, and lasts around 15 minutes.

This 100-point scale provides a semi-quantitative, compartmentalised assessment of the various symptoms observed in cerebellar syndrome. It comprises 19 items grouped into four subgroups, which allow different functions to be studied, such as posture and disturbances during walking, kinetic functions, speech disorders and oculomotor disorders. The score takes around 30 minutes to complete.

recovery of neurofilament assay data

This quick and easy test assesses the overall dexterity of the upper limbs. The subject will be seated, with the equipment placed on a height-adjustable shelf. The score expresses the number of cubes that the subject has transported, with one hand only, from one compartment of the box to another in 1 minute. The results are expressed as the number of cubes transported in one minute. The greater the number of cubes transported, the better the overall dexterity of the upper limb tested. The subject is free to choose which hand is used first. This choice will be noted.

The subject must place 9 pegs in the holes provided. The time taken to put the pegs in and then remove them will be measured. This test is timed. The examiner will explain the task and give a demonstration. The final score in seconds for this test will be used to determine which hand is the most skilful for the fine motor tasks. This assessment will also be carried out on controls. This assessment, carried out routinely for patients followed in Angers, lasts less than 5 minutes.

assesses the ability to recognise 6 fundamental and universal emotions: happiness, anger, sadness, fear, disgust and contempt. Each emotion is expressed by a different face in 9 levels of expressive intensity ranging from 20 to 100%.

.This task takes 20 minutes to administer. The test produces different scores: the higher the scores, the better the performance.

• Stories containing a misstep :
• Correct detections: /5 (number of stories containing a misstep for which the subject answered 'yes' to question 1)
• Total misstep score: /30 (correct detection score above + the sum of the correct answers obtained to questions 2 to 6)
• Score for the cognitive theory of mind question (Question 5): /5
• Score for the affective theory of mind question (Question 6): /5
• Comprehension: /10 (sum of correct answers to questions 7 and 8)
• Stories containing no errors
• Correct rejections: /4 (number of stories without errors for which the subject answered 'no' to question 1)
• Comprehension: /8 (sum of correct answers to questions 7 and 8)

Thirty-six photographs of gazes (male and female) are presented to the participant, who is asked to select from 4 suggested expressions the one that seems most appropriate to the subject's affective mental state (what he or she may be feeling). A lexicon that can be consulted at leisure is provided to the subject to compensate for any uncertainties concerning the proposed items. The maximum score is 36 (1 point per correctly chosen item). The test takes 15 to 20 minutes.

Subjects have to put each image sequence, presented in random order, back into chronological order. There are 4 non-social scenarios, 4 true belief scenarios and 4 false belief scenarios for a score out of 12 points. The test begins with 2 practice trials. The test lasts 20 minutes.

After viewing each scene, the test subject chooses the emotion perceived from a list provided, which includes the 6 basic emotions and the 'neutral emotion'. The possible answers are presented in a random order, which changes with each scene. There are 5 response cards. The task takes 20 minutes to administer. The test produces a total response score of between 0 and 35, as well as different sub-scores (correct responses per emotion, correct responses for positive emotions and correct responses for negative emotions). A score on the recognition of the gender of the person photographed is collected to ensure that there is no perceptual disorder. The higher the score, the better the performance.

The viewer watches a 25-minute video of four young people getting together on a Saturday night. The video is broken down into 46 scenes. It is interrupted 45 times. Each time a question is asked about mental states (what is the character feeling/thinking or what is their intention?). The person being assessed is then given a choice of four responses to be placed on a gradient ranging from a literal response (no theory of mind) to an over-interpretive response (too much theory of mind), via a response that does not involve enough theory of mind and the correct response.

It calculates 5 scores: 1 comprehension score, 1 correct response score of between 0 and 45 points and 3 error scores (incorrect responses are divided into 3 categories: under-interpretation error, over-interpretation error and no interpretation). The higher the score of correct answers, the better the performance.

A total of 10 stories about social problems will be proposed. For 5 of them, the participant will have to produce verbal solutions and for the other 5, act them out in a social interaction situation with a partner. The test lasts 40 minutes.