Résumé :
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BACKGROUND. Glycogen storage disease type III (GSD III) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic affection including hepatic and myopathic symptoms. While frequent socials difficulties have been reported, cognitive and psychological disturbances have never been assessed. The aim of the study is to examine the cognitive profile of patients with GSD III. METHODS: Six patients (5 women and 1 men, mean age: 38.8±11,6) with GSDIII underwent an exhaustive neuropsychological battery. Tests assessed global cognitive efficiency (MMS and MATTIS), executive functions (Frontal Assessment Battery), social cognition (recognition of facial emotion (Ekman) and theory of mind assessment (Stone)), episodic memory (Free and Cued Recall Test), instrumental functions (denomination of pictures, verbal fluency and copy of the Rey figure) and apathy (Starkstein apathy scale).MAIN RESULTS: We observed impaired global efficiency in 4 out of 6 patients (mean scores at the MMS: 25,60 ± 2,88; and at the MATTIS : 131 ± 13). All patients presented deficiency in executive functions, including adhesion to the environment for two of them. Emotional skills were impaired in five patients. Other cognitive functions were normal.CONCLUSION: These results suggest that a deficiency of the central nervous system could be associated to GSD III. This has never been described previously. We hypothesize that the impairment of the recognition of emotions and the theory of mind could be a consequence of orbito-frontal lesions. This could explain the social difficulties presented by these patients. These results need to be confirmed in a larger group of patients with GSD III.
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