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Traitement des signaux de communication dans le syndrome de Prader-Willi : aspects descriptifs, analytiques et évolutifs

Abstract : Prader-Willi syndrome (PWS) is a rare genetic syndrome affecting around 1 in 20,000 births in France. The two most frequent genetic origins are either a deletion in the 15q11q12 region on the paternal chromosome 15 or maternal uniparental disomy. This syndrome is easily identified through hypotonia and feeding difficulties observed at birth; then marked by hyperphagia, a constant sensation of hunger and behavioural difficulties that appear in time. From a social point of view, these patients present with atypical social interactions, similar to those reported in autism spectrum disorder (ASD). In PWS, very little research has been done concerning the behavioural and social interaction difficulties observed. Previous research has shown that these patients have deficits in recognizing emotions as well as atypical cortical signatures in response to faces. Nonetheless, an unexplored gap remains regarding how social signals are treated and analyzed. This thesis brings new data on potentially altered vocal and facial treatment processes in PWS. We developed a completed battery of behavioural tests aiming to study how voices and faces are processed. We demonstrated that patients with PWS have slower motor and perceptive skills. Furthermore, we identified a facial processing deficit that is not present for voiced. We suggest that the facial processing deficits observed could originate from a global perception deficit and the unification of several sources of information, thereby relating to the central coherence. Finally, we showed that patients with a materal disomy suffered from more severe social interaction difficulties than patients presenting with a deletion. Additionally, a therapeutic axis will be developed with the administration of oxytocin in children and adults with PWS. Oxytocin, over these past few years, has gained renewed interest for individuals with social interaction deficits. This therapeutic axis will allow us to study the long-term effects of oxytocin on children and the potential benefits of a treatment on the social and feeding behaviours.
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Jimmy Debladis. Traitement des signaux de communication dans le syndrome de Prader-Willi : aspects descriptifs, analytiques et évolutifs. Neurosciences. Université Paul Sabatier - Toulouse III, 2019. Français. ⟨NNT : 2019TOU30036⟩. ⟨tel-02896490⟩

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