PDF(Pubmed)
Abstract：
Cognitive deficits and abnormal cognitive aging have been associated with Myotonic dystrophy type 1 (DM1), but the knowledge of the extent and progression of decline is limited. The aim of this study was to examine the prevalence of signs of neurocognitive disorder (mild cognitive impairment and dementia) in adult patients with DM1. A total of 128 patients with childhood, juvenile, adult, and late onset DM1 underwent a screening using the Montreal Cognitive Assessment (MoCA). Demographic and clinical information was collected. The results revealed that signs of neurocognitive disorder were relatively rare among the participants. However, 23.8 % of patients with late onset DM1 (aged over 60 years) scored below MoCA cut-off (=23), and this group also scored significantly worse compared to patients with adult onset. Age at examination were negatively correlated with MoCA scores, although it only explained a small portion of the variation in test results. Other demographic and clinical factors showed no association with MoCA scores. In conclusion, our findings indicate a low prevalence of signs of neurocognitive disorder in adult patients with DM1, suggesting that cognitive deficits rarely progress to severe disorders over time. However, the performance of patients with late onset DM1 suggests that this phenotype warrants further exploration in future studies, including longitudinal and larger sample analyses.
摘要：
认知缺陷和异常认知老化与强直性肌营养不良1型（DM1）有关，但是对下降的程度和进展的了解是有限的。这项研究的目的是检查成年DM1患者中神经认知障碍（轻度认知障碍和痴呆）的患病率。共有128名儿童患者，少年,成人,采用蒙特利尔认知评估(MoCA)对晚发型DM1进行了筛查.收集人口统计学和临床信息。结果显示，神经认知障碍的迹象在参与者中相对罕见。然而,23.8％的晚发性DM1（60岁以上）患者得分低于MoCA临界值（=23），与成年患者相比，该组的得分也明显更差。考试年龄与MoCA成绩呈负相关,尽管它只解释了测试结果变化的一小部分。其他人口统计学和临床因素与MoCA评分无关。总之,我们的研究结果表明,DM1成年患者的神经认知障碍症状患病率较低,提示认知障碍很少随时间进展为严重疾病.然而,晚发性DM1患者的表现表明，这种表型值得在未来的研究中进一步探索，包括纵向和更大的样本分析。
