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Évaluation neuropsychologique et médico-sociale des adolescents et adultes porteurs d’un syndrome de Silver-Russell

Abstract : In France, rare diseases are a major public health issue with more than 3 million people affected by a rare disease. Because of their rare nature, these diseases generally suffer from limited knowledge. Silver-Russell syndrome (SRS), a rare (epi)genetic disease characterized by pre- and post-natal growth retardation, is no exception to this observation. Indeed, although many advances have been made in recent years concerning medical knowledge of SRS, there are still gaps in the cognitive and psychosocial phenotype of individuals with this syndrome. This thesis, which is at the crossroads of medicine and psychology, has a double objective: on the one hand, to study the cognitive, psychological and behavioral characteristics of adolescents and adults with SRS (e.g., intellectual efficiency, executive functions, self-esteem) and, on the other hand, to identify the factors associated with these different characteristics (e.g., age, molecular anomaly). A total of 19 participants with SRS (8 adolescents and 11 adults), and 19 control participants took part in this research. The results of our studies show that participants with SRS have intellectual abilities similar to those of the general population. Cognitive and psychological difficulties were observed in our participants with SRS. However, these difficulties were not expressed in the same way in adolescents and adults with SRS. Links between the phenotype and genotype of the participants were also observed. These results offer a better understanding of SRS and open perspectives on SRS management.
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Submitted on : Thursday, May 12, 2022 - 10:40:12 AM
Last modification on : Saturday, May 14, 2022 - 3:18:48 AM


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Melissa Burgevin. Évaluation neuropsychologique et médico-sociale des adolescents et adultes porteurs d’un syndrome de Silver-Russell. Psychologie. Université Rennes 2, 2021. Français. ⟨NNT : 2021REN20049⟩. ⟨tel-03665904⟩



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