Center for Neurological Learning Disabilities, Kempenhaeghe, Heeze, The Netherlands.
School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
Muscle Nerve. 2023 Jul;68(1):57-64. doi: 10.1002/mus.27836. Epub 2023 May 2.
INTRODUCTION/AIMS: There is clear evidence for brain involvement in childhood myotonic dystrophy type 1 (DM1) from imaging studies and the prevalence of intellectual impairment and neurodevelopmental disorders. The cognitive profile of children with DM1 however is poorly understood. The aim of this study was to assess the cognitive profile of children with DM1.
Neuropsychological examination reports of 45 children aged 2-17 y were analyzed. All cognitive subtests used in this cohort were pooled in 10 cognitive domains. For every patient a composite z-score was calculated for every assessed domain. Composite scores were classified as average (z > -1), mild cognitive impairment (-1 ≥ z > -2), or major cognitive impairment (z ≤ -2).
The nature and extent of neuropsychological examinations differed between centers and patients. The domains with the highest frequency of major cognitive impairment were social cognition (4/9 children tested; 44%), attention (13/32; 41%), and fine motor skills (3/10; 30%). Combining mild and major cognitive impairment, working memory (20/28; 71%), attention (21/32; 66%), and visuospatial functions (16/28; 57%) were the most frequently affected domains. Long-term memory was least affected, with mild impairment only in 5/29 (17%).
Children with DM1 may have specific cognitive deficits, most frequently affecting working memory, attention, and visuospatial functions, in addition to the previously described global intellectual impairments. We recommend including a standardized neuropsychological examination in the standards of care for DM1 children. Early recognition of cognitive deficits and behavioral disorders in children with DM1 can improve their management.
简介/目的：影像学研究和智力障碍及神经发育障碍的患病率清楚地表明，1 型肌强直性营养不良（DM1）患儿存在脑受累。然而，DM1 患儿的认知特征了解甚少。本研究旨在评估 DM1 患儿的认知特征。
分析了 45 名 2-17 岁 DM1 患儿的神经心理学检查报告。本队列中使用的所有认知测试均被汇集在 10 个认知域中。对每个患者，每个评估域均计算综合 z 分数。复合评分分为平均（z＞-1）、轻度认知障碍（-1≥z＞-2）或重度认知障碍（z≤-2）。
各中心和患者之间神经心理学检查的性质和范围不同。认知损害最严重的域为社会认知（9 名患儿中的 4 名；44%）、注意力（32 名患儿中的 13 名；41%）和精细运动技能（10 名患儿中的 3 名；30%）。将轻度和重度认知障碍合并，工作记忆（28 名患儿中的 20 名；71%）、注意力（32 名患儿中的 21 名；66%）和视空间功能（28 名患儿中的 16 名；57%）是最常受影响的域。长期记忆受影响最小，仅有 5/29（17%）名患儿出现轻度损害。
DM1 患儿可能存在特定的认知缺陷，除了先前描述的整体智力障碍外，最常影响工作记忆、注意力和视空间功能。我们建议在 DM1 患儿的护理标准中纳入标准化神经心理学检查。早期识别 DM1 患儿的认知缺陷和行为障碍可以改善他们的管理。
