"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients.
Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on formal testing but with severe difficulties in daily-living activities including social interactions. One explanation for this paradoxical mismatch can be found in patients' dysfunctional social cognition, which can be assessed in the framework of the Theory of Mind (ToM). We hypothesize here that specific disease driven abnormalities in DM1 brains may result in ToM impairments. We recruited 20 DM1 patients who underwent the "Reading the Mind in the Eyes" and the ToM-story tests. These patients, together with 18 healthy controls, also underwent resting-state functional MRI. A composite Theory of Mind score was computed for all recruited patients and correlated with their brain functional connectivity. This analysis provided the patients' "Theory of Mind-network", which was compared, for its topological properties, with that of healthy controls. We found that DM1 patients showed deficits in both tests assessing ToM. These deficits were associated with specific patterns of abnormal connectivity between the left inferior temporal and fronto-cerebellar nodes in DM1 brains. The results confirm the previous suggestions of ToM dysfunctions in patients with DM1 and support the hypothesis that difficulties in social interactions and personal relationships are a direct consequence of brain abnormalities, and not a reaction symptom. This is relevant not only for a better pathophysiological comprehension of DM1, but also for non-pharmacological interventions to improve clinical aspects and impact on patients' success in life.
Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Laura
L
Serra
Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.|Brighton & Sussex Medical School, Clinical Imaging Sciences Centre, University of Sussex, Brighton, United Kingdom.
Mara
M
Cercignani
Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Michela
M
Bruschini
Department of Neuropsychology, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Lisa
L
Cipolotti
Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.|Department of Engineering University of Rome, "Roma Tre", Rome, Italy.
Matteo
M
Mancini
Department of Geriatrics, Orthopaedic and Neuroscience, Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
Gabriella
G
Silvestri
Neuromuscular and Neurological Rare Diseases Center, S. Camillo Forlanini Hospital, Rome, Italy.
Antonio
A
Petrucci
Department of Neurology, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology "Sapienza" University, Rome, Italy.
Elisabetta
E
Bucci
Department of Neurology, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology "Sapienza" University, Rome, Italy.
Giovanni
G
Antonini
Department of Neurology, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology "Sapienza" University, Rome, Italy.
Loretta
L
Licchelli
Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Barbara
B
Spanò
Neuromuscular and Neurological Rare Diseases Center, S. Camillo Forlanini Hospital, Rome, Italy.
Manlio
M
Giacanelli
Department of Clinical and Behavioural Neurology, IRCCS Santa Lucia Foundation, Rome Italy.|Department of Neuroscience, University of Rome 'Tor Vergata', Rome, Italy.
Carlo
C
Caltagirone
Department of Neurology, IRCCS Policlinico San Donato, University of Milan, Milan, Italy.
Giovanni
G
Meola
Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Marco
M
Bozzali
D000328:Adult; D001921:Brain / Q000502:physiology; D003071:Cognition / Q000502:physiology*; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000503:physiopathology*; D009483:Neuropsychological Tests; D012919:Social Behavior; D056345:Theory of Mind / Q000502:physiology