A Genotype-phenotype Correlation of SLC26A4 Mutations in Cochlear-implanted Patients With Enlarged Vestibular Aqueduct
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 60
- 主要终点
- Cochlear implant age
研究概览
简要总结
To explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with enlarged vestibular aqueduct.
详细描述
Enlarged vestibular aqueduct (EVA) is one of the most common forms of inner ear malformation that cause sensorineural hearing loss (SNHL). Some patients with EVA present delayed, fluctuating, and progressive hearing loss, while the others are with congenital or sudden hearing loss. Cochlear implants (CI) have been widely used in patients with severe-profound SNHL. However, it is difficult to define the optimal timing of CI operations for patients with EVA. Mutations in SLC26A4 are known to be responsible for EVA. This study is to explore the genotype-phenotype correlation of SLC26A4 mutations in cochlear-implanted patients with EVA.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 0 Years 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Bilateral severe-to-profound sensorineural hearing loss who received cochlear implantation.
- •Bilateral or unilateral enlarged vestibular aqueduct (EVA) with or without Mondini malformation (IP-II) on temporal bone computed tomography (CT) and/or magnetic resonance imaging (MRI).
排除标准
- •Hearing loss that is associated with symptoms which meet the criteria of already known syndromes.
- •With other type of inner ear malformation.
结局指标
主要结局
Cochlear implant age
时间窗: Immediately after cochlear implantation
Age of cochlear implantation.
Duration of hearing loss
时间窗: Immediately after cochlear implantation
Time between found of hearing loss and cochlear implantation.
次要结局
- Type of initial hearing loss(On the 1 day of recruitment.)
- Type of hearing loss progression(Immediately after cochlear implantation)