Mercuri E, Dubowitz L, Berardinelli A, Pennock J, Jongmans M, Henderson S, Muntoni F, Sewry C, Philpot J, Dubowitz V
Department of Paediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
Neuropediatrics. 1995 Jun;26(3):156-62. doi: 10.1055/s-2007-979746.
Diffuse white matter changes on magnetic resonance imaging (MRI) have been a consistent feature in some children with the "pure" form of congenital muscular dystrophy (CMD) in which there are no structural changes in the brain or severe mental retardation. The aim of this study was to assess fine motor and perceptuo-motor abilities in children with CMD with and without MRI changes. Twenty-two children with "pure" CMD were investigated with a standard neurological examination and a battery of tests (Manual dexterity from the Movement ABC, test of visual-motor integration, Zurich Neuromotor test) which have already been used to detect minor neurological signs related to white matter changes. The cohort was then divided in two groups for analysis depending on the presence or the absence of diffuse white matter changes. A significant difference was found for all the tests between the group of the CMD children with normal MRI and the group with diffuse white matter changes. The manual dexterity and the Zurich Neuromotor tests showed a greater sensitivity than the test of visual-motor integration, which had some false negatives. It is of interest that in the group with diffuse white matter changes the presence of contractures or weakness did not seem to affect the quality of the performance; all these children scored abnormally on the test, irrespective of the severity or the extent of contractures and weakness. In contrast, in children with normal MRI severe contractures and weakness did affect the performances. Our results demonstrate that perceptuo-motor difficulties and minor neurological soft signs are a consistent feature in CMD children with diffuse MRI changes but not with normal MRI.(ABSTRACT TRUNCATED AT 250 WORDS)
磁共振成像（MRI）显示的弥漫性白质改变一直是一些患有“单纯”型先天性肌营养不良（CMD）儿童的一个持续特征，这些儿童脑部无结构改变，也无严重智力发育迟缓。本研究旨在评估有和没有MRI改变的CMD儿童的精细运动和感知运动能力。对22名患有“单纯”CMD的儿童进行了标准的神经学检查和一系列测试（来自运动ABC的手部灵活性测试、视觉运动整合测试、苏黎世神经运动测试），这些测试已被用于检测与白质改变相关的轻微神经学体征。然后根据是否存在弥漫性白质改变将该队列分为两组进行分析。在MRI正常的CMD儿童组和有弥漫性白质改变的组之间，所有测试均发现有显著差异。手部灵活性测试和苏黎世神经运动测试显示出比视觉运动整合测试更高的敏感性，后者存在一些假阴性结果。有趣的是，在有弥漫性白质改变的组中，挛缩或肌无力的存在似乎并未影响测试表现的质量；所有这些儿童在测试中得分均异常，无论挛缩和肌无力的严重程度或范围如何。相比之下，MRI正常的儿童中，严重挛缩和肌无力确实会影响测试表现。我们的结果表明，感知运动困难和轻微神经学软体征是MRI有弥漫性改变的CMD儿童的一个持续特征，但MRI正常的CMD儿童则没有。（摘要截选至250词）
