[Social Cognitive Impairment in Myotonic Dystrophy Type 1].

Area of Science:

• Neurology
• Genetics
• Psychology

Context:

• Myotonic dystrophy type 1 (DM 1) is a genetic disorder affecting multiple systems, including the brain.
• DM 1 is frequently associated with developmental and behavioral disorders, such as autism spectrum disorder (ASD).
• Autistic traits in DM 1 may be linked to social cognitive deficits.

Purpose:

• To investigate social cognitive functions in DM 1 patients, focusing on facial emotion recognition and theory of mind.
• To determine if deficits in these areas are attributable to visual impairment or lexical comprehension issues.
• To explore potential neurological underpinnings of social cognitive dysfunction in DM 1.

Summary:

• Patients with DM 1 exhibited reduced sensitivity to disgust and anger facial expressions compared to controls.
• DM 1 patients demonstrated impairments in theory of mind tasks, including the "Reading the Mind in the Eyes" test and faux pas recognition.
• These social cognitive deficits were not explained by visual acuity or language comprehension abilities.

Impact:

• Findings suggest that cerebral atrophy and white matter abnormalities in specific brain regions (temporal, frontal, insular cortex) contribute to social cognitive dysfunction in DM 1.
• This dysfunction may underlie the observed behavioral and communication disorders in individuals with DM 1.
• Highlights the need for targeted interventions addressing social cognition in DM 1 management.