塔克努奇-科萨基综合征儿童的听觉和语言能力:系统性审查
Valeria Caragli1, Elisabetta Genovese2, Sara Parretta1
1Otorhinolaryngology-Head and Neck Surgery, Audiology Program, University of Modena and Reggio Emilia, 41125 Modena, Italy.
Genes
|August 29, 2024
概括
塔克努奇-科萨基综合征 (TKS) 显著影响听力,大多数患者出现听力损失 (HL). 早期评估和康复对于管理HL和改善受影响儿童的沟通技巧至关重要.
科学领域:
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
- 听力学 听力学是指听力学.
背景情况:
- 塔克努奇-科萨基综合征 (TKS) 是一种罕见的遗传疾病,由CDC42基因突变引起.
- TKS的特点是形态障碍,免疫和血液调节障碍,智力障碍和发育迟缓.
研究的目的:
- 审查有关TKS儿童听力和语言能力的现有文献.
- 突出TKS患者听力损失的患病率和特征.
主要方法:
- 在PubMed,Scopus和Web of Science中进行系统的文献搜索.
- 包括12项研究,包括13名TKS患者的数据.
主要成果:
- 听力损失 (HL) 影响高比例的TKS患者 (84.6%).
- 详细的听力学数据和语言能力在少数情况下被报告.
- 听力康复策略在两个研究中被提及.
结论:
- 需要对TKS儿童的听力学和语言特征进行更多研究.
- 早期的听力学评估和干预对于改善沟通和生活质量至关重要.
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