The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD

AimTo study unexplored neuropsychological domains in the characterization of the Central Nervous System (CNS) involvement in Duchenne Muscular Dystrophy (DMD) that could be relevant based on the recent findings about dystrophin expression in human CNS.MethodA sample of DMD individuals (n = 20) under...

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Main Authors: S. Parravicini, C. A. Quaranta, M. I. Dainesi, A. Berardinelli
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Psychology
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Online Access:https://www.frontiersin.org/articles/10.3389/fpsyg.2024.1504174/full
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author S. Parravicini
S. Parravicini
C. A. Quaranta
C. A. Quaranta
M. I. Dainesi
M. I. Dainesi
A. Berardinelli
author_facet S. Parravicini
S. Parravicini
C. A. Quaranta
C. A. Quaranta
M. I. Dainesi
M. I. Dainesi
A. Berardinelli
author_sort S. Parravicini
collection DOAJ
description AimTo study unexplored neuropsychological domains in the characterization of the Central Nervous System (CNS) involvement in Duchenne Muscular Dystrophy (DMD) that could be relevant based on the recent findings about dystrophin expression in human CNS.MethodA sample of DMD individuals (n = 20) underwent a neuropsychological battery encompassing standard cognitive assessments but also less explored social cognition skills. Wechsler scales and a developmental neuropsychological assessment (NEPSY-II) were adopted.ResultsOur sample performed significantly worse than the reference scores in the “social cognition” sub-items of the NEPSY-II; the difference persisted even when splitting the sample by Dp140 depletion or cognitive deficit. The difference in the “affect recognition” scores between the Dp140 + and the Dp140− subgroups was confirmed even after excluding the subjects with a cognitive deficit.InterpretationDystrophin is highly expressed in structures involved in the brain networks underlying some social cognition skills. Our results, which provide additional preliminary evidence of a possible specific impairment in this area, underscore the importance of considering social cognition as another feature of the CNS phenotype of DMD, consistent with a few other previous reports.
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spelling doaj-art-b39fd5d350ed48abbe4baa1e1e3cef9f2025-01-06T06:59:21ZengFrontiers Media S.A.Frontiers in Psychology1664-10782025-01-011510.3389/fpsyg.2024.15041741504174The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMDS. Parravicini0S. Parravicini1C. A. Quaranta2C. A. Quaranta3M. I. Dainesi4M. I. Dainesi5A. Berardinelli6Department of Brain and Behavioral Sciences, University of Pavia, Pavia, ItalyPediatric Neuroscience Unit, IRCCS Mondino Foundation, Pavia, ItalyDepartment of Brain and Behavioral Sciences, University of Pavia, Pavia, ItalyPediatric Neuroscience Unit, IRCCS Mondino Foundation, Pavia, ItalyDepartment of Brain and Behavioral Sciences, University of Pavia, Pavia, ItalyPediatric Neuroscience Unit, IRCCS Mondino Foundation, Pavia, ItalyPediatric Neuroscience Unit, IRCCS Mondino Foundation, Pavia, ItalyAimTo study unexplored neuropsychological domains in the characterization of the Central Nervous System (CNS) involvement in Duchenne Muscular Dystrophy (DMD) that could be relevant based on the recent findings about dystrophin expression in human CNS.MethodA sample of DMD individuals (n = 20) underwent a neuropsychological battery encompassing standard cognitive assessments but also less explored social cognition skills. Wechsler scales and a developmental neuropsychological assessment (NEPSY-II) were adopted.ResultsOur sample performed significantly worse than the reference scores in the “social cognition” sub-items of the NEPSY-II; the difference persisted even when splitting the sample by Dp140 depletion or cognitive deficit. The difference in the “affect recognition” scores between the Dp140 + and the Dp140− subgroups was confirmed even after excluding the subjects with a cognitive deficit.InterpretationDystrophin is highly expressed in structures involved in the brain networks underlying some social cognition skills. Our results, which provide additional preliminary evidence of a possible specific impairment in this area, underscore the importance of considering social cognition as another feature of the CNS phenotype of DMD, consistent with a few other previous reports.https://www.frontiersin.org/articles/10.3389/fpsyg.2024.1504174/fullDuchenne Musclar DystrophyNEPSY IIsocial cognitionemotion recognitionpediatricneuropsychological test
spellingShingle S. Parravicini
S. Parravicini
C. A. Quaranta
C. A. Quaranta
M. I. Dainesi
M. I. Dainesi
A. Berardinelli
The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD
Frontiers in Psychology
Duchenne Musclar Dystrophy
NEPSY II
social cognition
emotion recognition
pediatric
neuropsychological test
title The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD
title_full The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD
title_fullStr The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD
title_full_unstemmed The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD
title_short The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD
title_sort hidden face of duchenne neuro muscular dystrophy preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of dmd
topic Duchenne Musclar Dystrophy
NEPSY II
social cognition
emotion recognition
pediatric
neuropsychological test
url https://www.frontiersin.org/articles/10.3389/fpsyg.2024.1504174/full
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