与MED13L相关的疾病,其特征是严重的运动语言障碍
Marissa W Mitchel1, Stefanie Turner2, Lauren K Walsh2
1Autism & Developmental Medicine Institute, Geisinger, 120 Hamm Drive, Suite 2, Lewisburg, PA, 17837, USA. mwmitchel@geisinger.edu.
Journal of neurodevelopmental disorders
|September 24, 2025
概括
与MED13L相关的障碍经常导致语音缺陷和失联症,以及运动,语言和认知技能的全球延迟. 早期的语言治疗对患有这种疾病的儿童至关重要.
科学领域:
- 遗传学和神经学 遗传学和神经学
- 发育儿科 发育儿科
- 语音语言病理学 语言病理学
背景情况:
- 与MED13L相关的疾病是一种与智力障碍,运动延迟和语言缺陷相关的遗传疾病.
- 之前的研究缺乏详细的语音诊断和直接测试结果来确定这种疾病.
- 这项研究旨在深入表型MED13L相关疾病患者的言语,语言,运动,认知和适应能力.
研究的目的:
- 对患有MED13L相关疾病的个体进行深度表型化.
- 描述特定的语音,语言,运动,认知和适应现象型.
- 为更好的临床管理提供详细的诊断信息.
主要方法:
- 一项涉及标准化发音,语言,运动和认知测试的横截面研究,对17名儿童和青少年进行了测试.
- 在人体测试补充了从67个人发展,医疗和行为方面的虚拟数据收集.
- 利用直接评估和虚拟数据来捕捉一个全面的表型.
主要成果:
- 所有亲自测试的参与者都符合语音失调症,失联症或两者的标准.
- 语言障碍几乎是普遍存在的 (100%是面对面的,97%是虚拟的).
- 观察到视觉运动整合的显著缺陷,边界到智力障碍 (97%的认知障碍),以及常见的医疗问题,如低血压症 (83%) 和视力问题 (72%).
结论:
- 在全球发育障碍的背景下,与MED13L相关的障碍与运动语言障碍 (厌恶症,失节症) 密切相关.
- 患有MED13L相关疾病的儿童在运动,语言和认知领域表现出显著的缺陷.
- 建议提前转诊进行言语治疗,以解决言语,语言和整体支持需求.
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