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神经发育障碍的基因类型-表型相关性,在患有肌肉变异症的患者中

Fabrício M Soares¹, Bruna F Rosa², Gabriela M Giordani¹

¹Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Medicina: Ciências Médicas, Porto Alegre, RS, Brazil.

Jornal de pediatria

|June 1, 2025

概括

发育不良症患者表现出高度的注意力缺陷/多动障碍 (ADHD),强迫症 (OCD) 和自闭症谱系障碍 (ASD) 症状. 这些神经发育症状与特定的杜氏肌肉发育不良 (DMD) 基因变异相关,影响大脑发育不良异型.

科学领域:

神经学神经学
遗传学是一个遗传学.
神经发育障碍神经发育障碍

背景情况:

包括杜恩肌肉发育不良症 (DMD) 在内的肌肉发育不良症往往伴有各种神经发育障碍.
这些患者经常被诊断出注意力缺陷/多动性障碍 (ADHD),强迫症 (OCD) 和自闭症谱系障碍 (ASD).

研究的目的:

研究DMD基因型与ADHD,强迫症和ASD症状的表现之间的关系.
在神经发育症状方面探索特定基因型和受影响的双基因异型之间的相关性.

主要方法:

一项观察性横截面研究,涉及50名患有骨质疏松症的参与者.
标准化仪器被用来评估参与者及其照顾者的神经发育症状.
参与者根据他们的DMD基因型和受影响的双素异型进行了分类.

主要成果:

超过一半的参与者 (51.4%) 呈现ADHD症状,ASD (34%) 和强迫症 (35.5%) 也很普遍.
超过一半的参与者 (52%) 患有脑营养不良蛋白异型.
自闭症和强迫症症状,以及童年自闭症评分表 (CARS) 评分,与DMD基因型和大脑异形损伤有显著的关联.

结论:

显而易见的基因型-表型相关性存在于形形病,将特定的DMD变体位置与ASD和强迫症症状联系起来.
大脑营养不良蛋白异型的参与是观察到的神经发育症状的一个关键因素.
影响大脑异型的基因型患者需要进行彻底的神经心理评估和多学科护理.

关键词:

注意力缺陷/多动症障碍注意力缺陷/多动症自闭症谱系障碍自闭症谱系障碍双氨酸的异构形式消极性肌肉变质症 (Dystrophinopathies) 是一种肌肉变质的疾病.基因型-表型相关性相关性强迫症是一种强迫症.

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