10岁男孩的听力,声音和言语障碍 面额骨骨缩症 (FSHD) - 案例研究
Emilia Duchnowska1, Bożena Kosztyła-Hojna1, Maciej Zdrojkowski1
1Department of Clinical Phonoaudiology and Speech Therapy, Medical University of Białystok, Białystok, Poland.
The application of clinical genetics
|March 13, 2026
概括
这项研究评估了10岁男孩的听力,声音和言语,该男孩患有面额骨肌肉发育不良 (FSHD). 结果显示,FSHD患者的严重听力损失和言语困难与肌肉度降低有关.
科学领域:
- 神经学 神经学
- 听力学 听力学是指听力学.
- 语音语言病理学 语言病理学
背景情况:
- 面皮骨肌肉衰变 (FSHD) 是一种影响肌肉的遗传性疾病.
- 在FSHD中进行详细的音响学评估很少.
- 这项研究侧重于一个儿科病例,以解决这一知识差距.
研究的目的:
- 为了评估一个患有FSHD的10岁男孩的听力,语音和言语功能.
- 为了将听力学和语音发现与神经肌肉状况相关联.
- 在罕见的儿科病例中提供全面的评估.
主要方法:
- 听力学测试包括纯色调,阻抗,语音音计和DPOAE.
- 语音评估使用GRBAS尺度和内镜喉检查.
- 语音评估使用了儿童语音评估卡 (KOLD).
- 额外的评估包括肌肉强度,步态分析和MRI.
主要成果:
- 基因检测证实了FSHD.
- 确定了严重的双侧神经感官听力损失 (平均73dB HL).
- 语音障碍的特征是关节肌肉度降低,白症和关节缺陷.
- 观察到声水,并保留了运动能力.
结论:
- 经过基因检查,FSHD诊断得到了确认.
- 显著的双边感应神经神经听力损失是一个关键的发现.
- 在FSHD的语言障碍与关节肌肉的紧张性降低有关.
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