Serra Laura, Cercignani Mara, Bruschini Michela, Cipolotti Lisa, Mancini Matteo, Silvestri Gabriella, Petrucci Antonio, Bucci Elisabetta, Antonini Giovanni, Licchelli Loretta, Spanò Barbara, Giacanelli Manlio, Caltagirone Carlo, Meola Giovanni, Bozzali Marco
Neuroimaging Laboratory, IRCCS Santa Lucia Foundation, Rome, Italy.
Brighton & Sussex Medical School, Clinical Imaging Sciences Centre, University of Sussex, Brighton, United Kingdom.
PLoS One. 2016 Jun 3;11(6):e0156901. doi: 10.1371/journal.pone.0156901. eCollection 2016.
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.
1型强直性肌营养不良症（DM1）是一种遗传性多系统疾病，累及包括大脑在内的多个器官。尽管这种疾病具有异质性，但一些非先天性DM1患者在正式测试中可能表现出轻微的认知障碍，但在包括社交互动在内的日常生活活动中却存在严重困难。这种矛盾性不匹配的一种解释可以在患者功能失调的社会认知中找到，这可以在心理理论（ToM）的框架内进行评估。我们在此假设，DM1大脑中特定的疾病驱动异常可能导致ToM受损。我们招募了20名DM1患者，他们接受了“眼神读心术”和ToM故事测试。这些患者与18名健康对照者一起还接受了静息态功能磁共振成像。为所有招募的患者计算了一个综合心理理论得分，并将其与他们的脑功能连接性相关联。该分析提供了患者的“心理理论网络”，并将其拓扑特性与健康对照者的进行了比较。我们发现，DM1患者在评估ToM的两项测试中均表现出缺陷。这些缺陷与DM1大脑中左下颞叶和额小脑节点之间异常连接的特定模式有关。结果证实了之前关于DM1患者存在ToM功能障碍的建议，并支持了以下假设：社交互动和人际关系方面的困难是大脑异常的直接后果，而非反应性症状。这不仅对于更好地理解DM1的病理生理学具有重要意义，而且对于改善临床症状以及影响患者生活成功的非药物干预也具有重要意义。
