Stefano Parravicini
The hidden face of Duchenne (Neuro)Muscular Dystrophy: social cognition impairment as a feature of the neuropsychological phenotype of DMD
Autori
- STEFANO PARRAVICINI (DIPARTIMENTO DI SCIENZE DEL SISTEMA NERVOSO CENTRALE E DEL COMPORTAMENTO, UNIVERSITA’ DI PAVIA, PAVIA; CENTRO MALATTIE NEUROMUSCOLARI DELL’INFANZIA E DELL’ADOLESCENZA, IRCCS FONDAZIONE MONDINO, PAVIA – NEUROPSICHIATRIA INFANTILE)
- CARLO ALBERTO QUARANTA (DIPARTIMENTO DI SCIENZE DEL SISTEMA NERVOSO CENTRALE E DEL COMPORTAMENTO, UNIVERSITA’ DI PAVIA, PAVIA; CENTRO MALATTIE NEUROMUSCOLARI DELL’INFANZIA E DELL’ADOLESCENZA, IRCCS FONDAZIONE MONDINO, PAVIA – NEUROPSICHIATRIA INFANTILE)
- MARIA IRENE DAINESI (DIPARTIMENTO DI SCIENZE DEL SISTEMA NERVOSO CENTRALE E DEL COMPORTAMENTO, UNIVERSITA’ DI PAVIA, PAVIA; CENTRO MALATTIE NEUROMUSCOLARI DELL’INFANZIA E DELL’ADOLESCENZA, IRCCS FONDAZIONE MONDINO, PAVIA – NEUROPSICHIATRIA INFANTILE)
- SELVIA KHALIL (FACOLTA’ DI MEDICINA E CHIRURGIA, UNIVERSITA’ DI PAVIA – )
- ANGELA BERARDINELLI (IRCCS FONDAZIONE MONDINO – NEUROPSICHIATRIA INFANTILE)
Presentatore
STEFANO PARRAVICINI
Modalità
Oral Communication
Abstract
Duchenne Muscular Dystrophy (DMD) presents as a progressive neuromuscular disorder primarily affecting boys, with mutations in the DMD gene leading to dystrophin deficiency. Beyond muscular degeneration, DMD patients exhibit heterogeneous neuropsychological profiles, including cognitive impairments and other neuropsychiatric comorbidities. Recent studies have clarified the expression patterns of dystrophin isoforms in the human central nervous system (CNS), raising attention on limbic structures (e.g., amygdala) that are involved, if damaged, in emotional processing deficits. Despite its importance, social cognition assessment is lacking in routine evaluations of DMD. This study aimed to fill this gap by conducting a systematic literature review and a clinical protocol focusing on social cognition in DMD patients. Our findings revealed a significant deficit in social cognition skills, particularly in recognizing the affective value of facial expression, compared to normative data. We further investigated the relation between this finding and the involvement of the extra-geniculostriatal pathway by a subliminal emotional priming experimental setup, the preliminary results of which are presented here. These results support the inclusion of social cognition deficits in the neuropsychological phenotype of DMD and underscore the need for comprehensive neuropsychological assessments and the development of standardized protocols to address CNS manifestations in DMD. Future research should explore the pathological basis and the anatomical-functional substrate (e.g., with advanced MRI techniques) of social cognition deficits and integrate this issue into neuropsychological rehabilitation strategies for patients living with DMD.