在8p23.1综合征中的语音和语言表型的表征
Çağdaş Karsan1, Feyzanur Ocak2, Talat Bulut3,4
1Biruni University, Istanbul, Turkey. ckarsan@biruni.edu.tr.
European child & adolescent psychiatry
|April 26, 2024
概括
8p23.1重复综合征可能导致轻度至重度的言语和语言障碍. 本案例研究强调需要全面评估,以指导针对受影响儿童的有针对性的干预措施.
科学领域:
- 遗传学 是一个遗传学.
- 发育儿科 发育儿科
- 语音语言病理学 语音语言病理学
背景情况:
- 8p23.1重复综合征是一种罕见的遗传疾病,其语音和语言特征不明.
- 以前的研究表明,言语和语言延迟,但缺乏全面的数据.
- 这项研究解决了在这个人群中需要详细的语音和语言评估的需求.
研究的目的:
- 对患有8p23.1重复综合征的儿童进行全面的言语,语言,口腔-面部和发育评估.
- 描述患有8p23.1重复综合征的个体的言语和语言特征.
- 为未来的研究和有针对性的干预提供基础.
主要方法:
- 一个50个月大的土耳其语男孩被诊断为8p23.1重复综合征被评估.
- 标准化测试用于发展,发音,语音学,感受和表达语言.
- 进行了生态有效的语言样本分析,并与典型的发育同行进行了比较.
主要成果:
- 患者表现出轻度至重度的发音和声学缺陷.
- 接受性和表达性语言技能,包括形态语法,显著受损.
- 语言样本分析揭示了可理解性,形态语法,语义,话语和口语流性的问题.
结论:
- 患有8p23.1重复综合征的个体可能会出现广泛的言语和语言困难.
- 综合性语音和语言评估对于准确的诊断和干预计划至关重要.
- 需要对更大群体进行进一步的研究,以建立明确的语音和语言概况.
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