Autosomal Dominant Spinocerebellar Ataxias and Social Cognition

Condition(s) studied

Investigational drug(s) / intervention(s)

tests: neuropsychological tests + Neuroimaging

Study summary

Spinocerebellar ataxias are a group of rare neurodegenerative diseases, clinically and genetically highly heterogeneous, with an estimated mean prevalence of 2.7 per 100,000 population. The term "spinocerebellar ataxia" or "SCA" is often used for ataxias of genetic origin of autosomal dominant transmission, which are the subject of this study. Recent studies of social cognition in patients with genetic cerebellar pathologies, and autosomal dominant spinocerebellar ataxia in particular, are still few and far between (around 15 studies), and seem to highlight impairment of basic emotion recognition and theory of mind skills. That said, data have very often been collected on very small samples of patients (sometimes in case study format). They also remain contradictory, including in the examination of the cerebellar anatomoclinical correlates of the deficits. Thus, the question arises as to whether patients with spinocerebellar ataxia also show impairments in emotion recognition and cognitive and affective theory of mind in more ecologically valid dynamic and interactive assessment situations.

Eligibility

Primary outcome measure(s)

• to assess the social cognition with the Facial Emotion Recognition Test from classical approach — Baseline
  Facial Emotion Recognition 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%
• to assess the social cognition with the Faux Pas Test from classical approach — Baseline
  Faux Pas Test: in its shortened 10-story version, 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 produces different scores: the higher the score, the better the performance.
• to assess the social cognition with the Reading the Mind in the Eyes test from classical approach — Baseline
  Reading the Mind in the Eyes test: 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 that 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.
• to assess the social cognition with the sequencing test from classical approach — Baseline
  sequencing test: sequential arrangement of 12 scenarios, all consisting of 4 images in the format of short comic strips. They represent mechanical (non-social) events and social scripts including true (4 scenarios) and false beliefs (4 scenarios). Subjects are asked 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 12-point score. The test begins with 2 practice trials. The test lasts 20 minutes.
• to assess the social cognition with the French Emotion Evaluation Test from ecological approach — Baseline
  French Emotion Evaluation Test: 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. The test produces a total response score of between 0 and 35.
• to assess the social cognition with the Movie for the Assessment of Social Cognition Test from ecological approach — Baseline
  evaluates theory of mind in dynamic modality. It was adapted and validated in French (MASC-VF) as part of a partnership between Patricia Garel's team (Hopital Universitaire de Sainte-Justine, Montreal, Quebec) and Isabelle Amado's team (Centre Hospitalier Sainte-Anne, Service Hospitalo-Universitaire, Paris, France). This test assesses both the affective and cognitive sides of theory of mind, and also includes six control questions to rule out a comprehension problem. The test takes around 40 minutes to administer. The test will assess the cognitive and affective theory-of-mind abilities of ALS patients in comparison with those of matched control subjects. The MASC calculates 5 scores: 1 comprehension score, 1 correct response 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.
• to assess the social cognition with the social problem-solving test from interactionist approach — Baseline
  This test has been developped at Angers . 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.

Trial sites (1)

More University Hospital, Angers trials in France