杜兴氏肌肉萎缩症的认知轨迹

Abeer A. Tony, Sara Abdelrashid, Hoda S. Ahmed, Mohamed Rizk Khodair
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引用次数: 0

摘要

杜氏肌营养不良症(DMD)是一种 X 连锁隐性遗传病,由改变肌营养不良蛋白(DYS)的基因变化引起。越来越多的证据表明,患有 DMD 的儿童出现神经发育障碍症状的风险较高。与健康对照组相比,我们旨在确定 DMD 患者的认知障碍及其类别,并评估其与功能严重性的关系。这是一项针对 DMD 患者的多中心、观察性、病例对照研究。正常对照组包括年龄和性别相匹配、无神经、精神或医疗合并症的健康受试者。研究组之间的认知模式存在明显的统计学差异。我们观察到,患者的认知困难与功能严重程度评估之间存在明显关系。所研究病例的基本特征和认知功能与人口统计学数据之间的相关性在统计学上有显著差异。与健康对照组相比,DMD 患者的认知功能有所下降。教育是患者受影响最严重的领域,语言发育迟缓和辍学的情况较多。因此,建议将认知筛查作为 DMD 儿童评估和随访的常规项目。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Cognition trajectory in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease brought on by genetic changes that alter the dystrophin (DYS) protein. There has been growing evidence that children with DMD have been at higher risk of developing symptoms of neurodevelopmental disorders. We aimed at defining the cognitive difficulties and their categories in patients with DMD, compared to healthy controls, and assessing their relation with the functional severity. This work was a multi-center, observational, case–control study conducted on DMD patients. Age and sex-matched healthy subjects with no neurologic, psychiatric, or medical comorbidities were included as normal controls. There was a statistically significant difference in cognitive patterns between the studied groups. We have observed a significant relationship between cognitive difficulties and functional severity assessment in our patients. There was a statistically significant difference between the studied cases regarding basic characteristics and correlation between cognitive functions and demographic data. The decline in cognitive functions in DMD patients compared to healthy controls was established. Education was the most affected domain in patients, with more speech delay and dropping out of school. Therefore, it was recommended to establish cognitive screening as a routine in the evaluation and follow-up of DMD children.
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