与MED13L相关的疾病,其特征是严重的运动语言障碍
Marissa Weyer Mitchel1, Stefanie Turner1, Lauren K Walsh1
1Autism & Developmental Medicine Institute Geisinger.
Research square
|September 11, 2024
概括
与MED13L相关的障碍往往涉及到显著的语言和运动挑战. 早期,密集的语言治疗和沟通辅助对受影响的儿童至关重要.
科学领域:
- 遗传学和罕见疾病.
- 神经发育障碍 神经发育障碍
- 语音和语言病理学
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.
- 以前的研究缺乏详细的语音诊断和直接测试结果.
- 这项研究旨在深入表型MED13L相关疾病的个体.
研究的目的:
- 描述MED13L相关疾病患者的言语,语言,运动,认知和适应现象.
- 为此群体提供关于语言障碍的具体诊断信息.
- 为治疗策略和早期干预提供信息.
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.
- 补充了来自67个人的发育,医学和行为信息的虚拟数据收集.
- 深度表型化方法收集全面的数据.
主要成果:
- 在面对面的队列中,所有参与者都满足了语音失调,失联症或两者的标准.
- 语言障碍几乎是普遍存在的 (100%面对面,97%虚拟).
- 观察到视觉运动整合的显著缺陷,智商范围从边界到智力障碍,以及常见的医疗问题,如低血压和视力问题.
结论:
- 与MED13L相关的疾病的特点是,运动语言障碍与运动,语言和认知能力的全球障碍同时发生.
- 患有这种疾病的儿童从密集的,个性化的语言治疗中受益.
- 建议尽早实施增强型和替代性沟通 (AAC) 策略.
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