Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study
Age-related cognitive decline in myotonic dystrophy type 1: An 11-year longitudinal follow-up study
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DOI：
10.1111/jnp.12192
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发表时间：
2019-08-13
影响因子：
2.2
通讯作者：
Sistiaga, Andone
中科院分区：
文献类型：
--
作者：
Labayru, Garazi;Aliri, Jone;Sistiaga, Andone
背景1型强直性肌营养不良症（Myotonic dystrophy type 1，DM 1）是一种累及中枢神经系统的遗传性多系统疾病，以一系列认知功能障碍为特征。然而，这种认知特征是否随着时间的推移而发展仍然是一个有争议的问题。本研究的目的是纵向评估DM 1样本，以便首次将这种进展与对照组进行比较。临床和社会人口预测因素可能牵连在这种可能的下降进行了分析。方法对75例儿童、青少年、成人和晚发DM 1患者和54例对照者进行了11年的随访，采用综合神经心理成套测验进行了重新评估。所采用的分析是混合方差分析的重复测量，以测试组间比较随着时间的推移和多元线性回归的预测变量分析。结果强直性肌营养不良1型患者的视觉空间/视觉建构能力和视觉记忆能力较对照组明显下降。多元线性回归显示，通过复制Rey-Osterrieth复杂图形测量的认知障碍进展预测肌肉损伤，而在块设计测试中，年龄预测了31岁时截止的变化。讨论在DM 1中发现了特定领域的进行性认知下降，视觉空间/视觉建构能力对时间的推移表现出最大的脆弱性。除了重要的临床意义外，这些结果还表明科学界需要更深入地研究这一人群早期认知能力下降的潜在机制。
Background Myotonic dystrophy type 1 (DM1) is an inherited multi-systemic disease involving the central nervous system (CNS) and is consequently characterized by a range of cognitive impairments. However, whether this cognitive profile progresses over time is still a matter of debate. The aim of this study was to longitudinally assess a DM1 sample, in order to compare, for the first time, this progression with that of a control group. Clinical and socio-demographic predictive factors potentially implicated in this possible decline are analysed. Method Seventy-five DM1 patients with childhood, juvenile, adult, and late-onset, and 54 control participants were re-assessed in an 11-year follow-up with a comprehensive neuropsychological battery. The analyses employed were mixed ANOVA for repeated measures to test intergroup comparisons over time and multiple linear regression for predictive variable analysis. Results Myotonic dystrophy type 1 patients significantly worsened in visuospatial/visuoconstructive abilities and visual memory compared with controls. Multiple linear regression revealed that progression of cognitive impairment measured by copy of the Rey-Osterrieth complex figure was predicted by muscular impairment, whilst on the block design test age predicted the change with a cut-off at 31 years of age. Discussion A domain-specific progressive cognitive decline was found in DM1, with visuospatial/visuoconstructive abilities showing the greatest vulnerability to the passage of time. In addition to important clinical implications, these results suggest the need for the scientific community to delve deeper into the potential mechanisms underlying early cognitive decline in this population.