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杜氏肌营养不良症患者母亲的认知。

Cognition of the mothers of patients with Duchenne muscular dystrophy.

机构信息

Department of Psychiatry, Sisli Hamidiye Etfal Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.

Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

出版信息

Muscle Nerve. 2020 Dec;62(6):710-716. doi: 10.1002/mus.27057. Epub 2020 Sep 21.

DOI:10.1002/mus.27057
PMID:32893363
Abstract

Duchenne muscular dystrophy (DMD) has been found to be associated with cognitive impairment. However, few studies have addressed cognitive impairment among mothers of children with DMD. In the present study, the neuropsychological profiles of both carrier mothers (C-Ms) and noncarrier mothers (NC-Ms) were examined, and the findings were compared with healthy control mothers (HC-Ms). There were 90 participants, consisting of 31 C-Ms, 24 NC-Ms, and 35 HC-Ms, each of whom completed a neuropsychological test battery. C-Ms had poorer cognition performance in attention, working memory, immediate verbal memory, visuospatial skills, and executive functions than NC-Ms, and HC-Ms. This study provides evidence that there may be cognitive impairment in mothers of patients with DMD. The cognitive impairment of C-Ms has similarities to that seen in children with DMD.

摘要

杜氏肌营养不良症(DMD)与认知障碍有关。然而,很少有研究涉及 DMD 患儿母亲的认知障碍。在本研究中,对携带者母亲(C-M)和非携带者母亲(NC-M)的神经心理学特征进行了检查,并将结果与健康对照组母亲(HC-M)进行了比较。共有 90 名参与者,包括 31 名 C-M、24 名 NC-M 和 35 名 HC-M,他们每个人都完成了神经心理学测试。C-M 在注意力、工作记忆、即时言语记忆、视空间技能和执行功能方面的认知表现均不如 NC-M 和 HC-M。本研究提供了证据表明,DMD 患者的母亲可能存在认知障碍。C-M 的认知障碍与 DMD 患儿相似。

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引用本文的文献

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Duchenne muscular dystrophy: recent insights in brain related comorbidities.杜氏肌营养不良症:脑相关合并症的最新见解
Nat Commun. 2025 Feb 3;16(1):1298. doi: 10.1038/s41467-025-56644-w.
2
Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants.杜氏肌营养不良症(DMD)致病变异女性携带者的认知变化和脑结构异常
J Neurol. 2025 Jan 15;272(2):152. doi: 10.1007/s00415-025-12896-6.
3
Cognitive function in DMD carriers: personal case series and literature review.DMD 携带者的认知功能:个人病例系列和文献综述。
Acta Myol. 2023 Sep 30;42(2-3):53-59. doi: 10.36185/2532-1900-354. eCollection 2023.
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Dystrophin genetic variants and autism.肌营养不良蛋白基因变异与自闭症。
Discov Ment Health. 2022 Mar 24;2(1):4. doi: 10.1007/s44192-022-00008-z.
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The unconditioned fear response in dystrophin-deficient mice is associated with adrenal and vascular function.营养不良型肌萎缩症小鼠的无条件恐惧反应与肾上腺和血管功能有关。
Sci Rep. 2023 Apr 4;13(1):5513. doi: 10.1038/s41598-023-32163-w.