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- W4288046300 abstract "Cognitive and executive function impairment as well as the association between executive functions and dystrophin gene mutation position have been widely investigated in individuals with Duchenne muscular dystrophy, whereas few studies explored these functions in Becker muscular dystrophy patients. The aim of this study is to investigate the neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy patients and whether there is any correlation with site of dystrophin gene mutation. This is a single-center, observational, cross-sectional study in which a full neuropsychological assessment, including intellectual functioning, executive functions, and language abilities, was performed in children and adolescents without cognitive impairment. A comparison between groups based on site of mutation or Intelligence Quotient level was attempted. 22 patients were enrolled. Overall, the patients in our cohort did not perform well in tests investigating the executive functions. No statistically significant difference was found in groups stratified by site of mutation or cognitive level. This study confirms that these patients have a risk of impairment of the executive functions, despite having a normal Intelligence Quotient in most cases (mean 94). This is a very important aspect, as it puts them at risk of developing learning disabilities." @default.
- W4288046300 created "2022-07-27" @default.
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- W4288046300 date "2022-09-01" @default.
- W4288046300 modified "2023-10-18" @default.
- W4288046300 title "Neuropsychological and behavioral profile in a cohort of Becker muscular dystrophy pediatric patients" @default.
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- W4288046300 doi "https://doi.org/10.1016/j.nmd.2022.07.402" @default.
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