Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 341/ ABC, Calambrone, Pisa 56128, Italy; Department of Clinical and Experimental Medicine, University of Pisa, Via Savi10, 56126 Pisa, Italy.
Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Viale del Tirreno 341/ ABC, Calambrone, Pisa 56128, Italy.
Neuromuscul Disord. 2021 Apr;31(4):319-327. doi: 10.1016/j.nmd.2021.01.011. Epub 2021 Feb 4.
The aim of the study was to re-assess neuropsychological profile in a group of boys with Duchenne muscular dystrophy without intellectual disability and neuropsychiatric disorder three years apart from a previous evaluation, to establish possible changes over time. We were also interested in defining more in detail correlation between genotype and neuropsychological phenotype. Thirty-three of the previous 40 subjects (mean age at follow up: 10 years and 7 months) agreed to participate in the follow up study and to perform the new assessment. The results confirm a typical neuropsychological profile, with difficulty in the manipulation of stored information, poor abstract reasoning and planning capacity and impulsiveness, supporting the involvement of a cerebellar striatal cortical network for these children. The more detailed description of subgroups of subjects, according to the real expression of Dp140, let to reveal possible genotype-neuropsychological phenotype correlations, and a more general neuropsychological impairment emerged in boys without Dp140 expression.
本研究的目的是在先前评估的三年后，重新评估一组无智力障碍和神经精神障碍的杜兴氏肌肉营养不良症男孩的神经心理学特征，以确定随时间可能发生的变化。我们还感兴趣的是更详细地定义基因型和神经心理学表型之间的相关性。在之前的 40 名受试者中，有 33 名（随访时的平均年龄为 10 岁 7 个月）同意参加随访研究并进行新的评估。结果证实了一种典型的神经心理学特征，在存储信息的操作、抽象推理和计划能力以及冲动方面存在困难，支持小脑纹状体皮质网络对这些儿童的参与。根据 Dp140 的实际表达，对受试者亚组的更详细描述揭示了可能的基因型-神经心理学表型相关性，并且在没有 Dp140 表达的男孩中出现了更普遍的神经心理学损伤。
