Stefano Parravicini ^1,2* Carlo Alberto Quaranta ^1,2 Maria Irene Dainesi ^1,2 Angela Lucia Berardinelli ¹

• ¹ Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy
• ² Pediatric neuroscience center, IRCCS Mondino Foundation, Pavia, Italy

Aim: to 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. Method: a sample of DMD patientsindividuals (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. Results: our 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. Interpretation: dystrophin 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.• In previous literature, social cognition was the least assessed neuropsychological domain. • Evidence of social cognition impairment as part of the DMD's neuropsychological phenotype.• Study of unexplored features relevant in DMD based on dystrophin expression profile.