艾勒斯-丹洛斯综合征中的声音障碍
Anumitha Venkatraman1, Alexandra Schenck2, Susan L Thibeault1
1Department of Surgery, University of Wisconsin-Madison.
American journal of speech-language pathology
|July 25, 2025
概括
在埃勒斯-丹洛斯综合征 (EDS) 中,声音问题很常见,影响生活质量并导致社会限制. 这种人群需要早期查和改进的语音治疗.
科学领域:
- 医学研究 医学研究
- 语音和听力科学 语音和听力科学
- 遗传学 遗传学 是一个
背景情况:
- 埃勒斯-丹洛斯综合征 (EDS) 是一种连接组织疾病.
- 之前的研究表明EDS患者的喉缺陷,但声音特异性症状和生活质量影响尚未得到充分证实.
研究的目的:
- 在EDS患者中识别特定的语音相关症状.
- 评估失声症对EDS患者生活的社会和功能方面的影响.
主要方法:
- 对478名被诊断患有EDS的成年人进行了在线问卷调查.
- 收集的数据包括人口统计,语音问题历史,语音问题的社会影响,以及寻求语音治疗服务.
主要成果:
- 86.9%的参与者报告说,他们有声音问题史,女性更为普遍.
- 91%-97%的受访者因为发声问题而经历了社会或工作上的限制.
- 只有20.25%的人寻求语音语言病理学服务,尽管经常出现声和喉清理.
结论:
- 在EDS患者中,声音问题非常普遍,导致显著的功能限制.
- 这些发现支持开发EDS中语音障碍早期查工具的需要.
- 为EDS患者量身定制的改进的语音治疗策略是合理的.
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