康尼利亚·德朗格综合征患者的听觉特征
Nayara Pereira Santos1, Liliane Aparecida Fagundes Silva1, Ivone Ferreira Neves-Lobo1
1Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.
International archives of otorhinolaryngology
|October 28, 2024
概括
轻度听力损失在康涅利亚·德朗格综合征 (CdLS) 中很常见. 听觉脑干响应 (ABR) 测试显示传导性听力损失,这表明CdLS患者中耳问题.
科学领域:
- 听力学 听力学是指听力学.
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 康尼利亚·德朗格综合征 (CdLS) 是一种与听力损失相关的遗传疾病.
- 在患有CdLS的个体中,行为听觉评估可能不准确.
研究的目的:
- 描述患有CdLS的个体的听觉特征.
- 使用行为,电声学和电生理学评估.
主要方法:
- 包括13名基因确诊的CdLS患者 (3-26岁).
- 进行纯音调听力测量 (PTA),语音听力测量,声速率和听觉脑干响应 (ABR).
主要成果:
- 62.5%的人通过PTA出现轻度听力损失,主要是双边导电性听力损失 (60%).
- 76.9%的人有异常的耳 tympanometry (B型),84.6%的人没有声反射.
- 在66.66%的ABR显示了与中耳损伤一致的延迟变化.
结论:
- 轻度听力损失和中耳功能障碍在CdLS中很普遍.
- ABR延迟变化证实了导电性听力损失,而不是听觉通路完整性问题.
相关概念视频
Hearing
48.0K
When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
48.0K
The Cochlea
41.0K
The cochlea is a coiled structure in the inner ear that contains hair cells—the sensory receptors of the auditory system. Sound waves are transmitted to the cochlea by small bones attached to the eardrum called the ossicles, which vibrate the oval window that leads to the inner ear. This causes fluid in the chambers of the cochlea to move, vibrating the basilar membrane.
41.0K
Taste Buds and Receptors
5.6K
Gustation, or the sense of taste, is intrinsically linked to the anatomical structures located on the tongue. This organ's surface, along with the entirety of the oral cavity, is adorned with stratified squamous epithelium. Evident on the tongue are elevated structures known as papillae (singular = papilla), which house the mechanisms for the transduction of gustatory stimuli. Four distinct types of papillae exist, each identified by their unique morphological attributes: the circumvallate,...
5.6K
Respiratory System Abnormal Finding II: Palpation and Auscultation
2.1K
In assessing respiratory abnormalities, palpation and auscultation are critical tools for detecting and interpreting various pathophysiological changes. These techniques provide insight into underlying disorders by evaluating tactile sensations and sounds produced by the respiratory system.
Palpation Findings
During a respiratory assessment, palpation can reveal several vital abnormalities:
Palpation Findings
During a respiratory assessment, palpation can reveal several vital abnormalities:
2.1K
Auditory Perception
1.5K
The auditory system is essential for sound perception, utilizing various critical structures. When sound waves enter the outer ear, they travel through the ear canal and cause the eardrum to vibrate. These vibrations are then transmitted to the middle ear, where three tiny bones – the malleus, incus, and stapes – amplify the sound. This amplification is crucial, as it ensures that the sound vibrations are strong enough to be conveyed to the inner ear. These vibrations then reach the...
1.5K


