波兰22q11.2删除综合征儿童的言语和沟通发展:一项跨部门研究
Natalia Moćko1, Marcin Rudzki2, Zuzanna Miodońska2
1Faculty of Humanities, Institute of Linguistics, University of Silesia, Sejmu Śląskiego 1, 40-001 Katowice, Poland.
Brain sciences
|January 24, 2025
概括
波兰患有22q11.2微删除综合征 (22q11DS) 的儿童经历言语延迟和失语. 听力损失与延迟的第一句话有关,言语失调比以前认为的更为常见.
科学领域:
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
- 语音语言病理学 语言病理学
背景情况:
- 22q11.2微删除综合征 (22q11DS) 是一种影响22号染色体的遗传疾病,导致各种发育问题.
- 患有22q11DS的儿童经常面临语言,沟通和听力功能方面的挑战.
研究的目的:
- 调查诊断为22q11DS.DS的波兰儿童的言语和沟通发展.
- 在这个人群中分析发育阶段,听力状况和沟通障碍之间的关系.
主要方法:
- 一项涉及54名波兰儿童22q11DS.的横截面研究.
- 通过家长报告的语音发展问卷收集的数据,涵盖从喋喋不休到语音治疗参与.
- 统计分析以确定发展里程碑和特定疾病之间的相关性.
主要成果:
- 在22q11DS.儿童中观察到语音发展里程碑的延迟.
- 听力损失,在约25%的病例中存在,与延迟获取第一词相关.
- 显著的55.56%的儿童表现出言语不流,这一发现在以前的研究中被低估了.
结论:
- 语音失调可能是22q11DS中值得注意的现象,需要进一步进行标准化的评估.
- 语音治疗师和护理人员可能缺乏对22q11DS相关语音障碍的充分认识.
- 增加研究和宣传活动对于支持受影响儿童至关重要.
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