PDF(Pubmed)
Abstract：
OBJECTIVE: The aim was to describe the spectrum of inner ear malformations in CHARGE syndrome and propose a Computed Tomography (CT) detailed scan evaluation methodology. The secondary aim was to correlate the CT findings with hearing thresholds.
METHODS: Twenty ears of ten patients diagnosed with CHARGE syndrome were subjected to CT analysis focusing on the inner ear and internal acoustic canal. The protocol used is presented in detail. ASSR results were analyzed and correlated with inner ear malformations.
RESULTS: Cochlear hypoplasia type III was the most common malformation found in 12 ears (60%). Cochlear hypoplasia type II, aplasia with a dilated vestibule, and rudimentary otocyst were also identified. In 20%, no cochlear anomaly was found. The lateral Semicircular Canal (SCC) absence affected 100% of ears, the absence of the posterior SCC 95%, and the superior SCC 65%. Better development of cochlea structures and IAC correlated significantly with the lower hearing thresholds.
CONCLUSIONS: This study demonstrated that rudimentary SCC or a complete absence of these SCCs was universally observed in all patients diagnosed with CHARGE syndrome. This finding supports the idea that inner ear anomalies are a hallmark feature of the CHARGE, contributing to its distinct clinical profile. The presence of inner ear malformations has substantial clinical implications. Audiological assessments are crucial for CHARGE syndrome, as hearing loss is common. Early detection of these malformations can guide appropriate interventions, such as hearing aids or cochlear implants, which may significantly improve developmental outcomes and communication for affected individuals. Recognizing inner ear malformations as a diagnostic criterion presents implications beyond clinical diagnosis. A better understanding of these malformations can advance the knowledge of CHARGE pathophysiology. It may also help guide future research into targeted therapies to mitigate the impact of inner ear anomalies on hearing and balance function.
METHODS:
METHODS: Twenty ears of ten patients diagnosed with CHARGE syndrome were subjected to CT analysis focusing on the inner ear and internal acoustic canal. The protocol used is presented in detail. ASSR results were analyzed and correlated with inner ear malformations.
RESULTS: Cochlear hypoplasia type III was the most common malformation found in 12 ears (60%). Cochlear hypoplasia type II, aplasia with a dilated vestibule, and rudimentary otocyst were also identified. In 20%, no cochlear anomaly was found. The lateral Semicircular Canal (SCC) absence affected 100% of ears, the absence of the posterior SCC 95%, and the superior SCC 65%. Better development of cochlea structures and IAC correlated significantly with the lower hearing thresholds.
CONCLUSIONS: This study demonstrated that rudimentary SCC or a complete absence of these SCCs was universally observed in all patients diagnosed with CHARGE syndrome. This finding supports the idea that inner ear anomalies are a hallmark feature of the CHARGE, contributing to its distinct clinical profile. The presence of inner ear malformations has substantial clinical implications. Audiological assessments are crucial for CHARGE syndrome, as hearing loss is common. Early detection of these malformations can guide appropriate interventions, such as hearing aids or cochlear implants, which may significantly improve developmental outcomes and communication for affected individuals. Recognizing inner ear malformations as a diagnostic criterion presents implications beyond clinical diagnosis. A better understanding of these malformations can advance the knowledge of CHARGE pathophysiology. It may also help guide future research into targeted therapies to mitigate the impact of inner ear anomalies on hearing and balance function.
METHODS:
摘要：
目的：目的是描述CHARGE综合征中内耳畸形的频谱，并提出一种计算机断层扫描（CT）详细扫描评估方法。次要目的是将CT发现与听力阈值相关联。
方法：对10例CHARGE综合征患者的20只耳朵进行CT分析，重点是内耳和内声道。详细介绍了所使用的协议。分析ASSR结果，并与内耳畸形相关。
结果：III型耳蜗发育不全是12只耳朵中最常见的畸形（60％）。耳蜗发育不全II型,患有扩张前庭的发育不全,和初步的耳囊也被确定。在20%，没有发现耳蜗异常。半规管外侧（SCC）缺失影响了100％的耳朵，95%的后部SCC的缺失，和优越的SCC65%。耳蜗结构和IAC的更好发展与较低的听力阈值显着相关。
结论：这项研究表明，在所有诊断为CHARGE综合征的患者中普遍观察到基本SCC或完全不存在这些SCC。这一发现支持内耳异常是电荷的标志性特征的想法，有助于其独特的临床特征。内耳畸形的存在具有重要的临床意义。听力学评估对CHARGE综合征至关重要，听力损失是常见的。早期发现这些畸形可以指导适当的干预措施，如助听器或人工耳蜗，这可能会显着改善受影响个体的发育结果和沟通。将内耳畸形视为诊断标准，超出了临床诊断的意义。更好地了解这些畸形可以增进对CHARGE病理生理学的了解。它还可能有助于指导未来的靶向治疗研究，以减轻内耳异常对听力和平衡功能的影响。
方法：
方法：对10例CHARGE综合征患者的20只耳朵进行CT分析，重点是内耳和内声道。详细介绍了所使用的协议。分析ASSR结果，并与内耳畸形相关。
结果：III型耳蜗发育不全是12只耳朵中最常见的畸形（60％）。耳蜗发育不全II型,患有扩张前庭的发育不全,和初步的耳囊也被确定。在20%，没有发现耳蜗异常。半规管外侧（SCC）缺失影响了100％的耳朵，95%的后部SCC的缺失，和优越的SCC65%。耳蜗结构和IAC的更好发展与较低的听力阈值显着相关。
结论：这项研究表明，在所有诊断为CHARGE综合征的患者中普遍观察到基本SCC或完全不存在这些SCC。这一发现支持内耳异常是电荷的标志性特征的想法，有助于其独特的临床特征。内耳畸形的存在具有重要的临床意义。听力学评估对CHARGE综合征至关重要，听力损失是常见的。早期发现这些畸形可以指导适当的干预措施，如助听器或人工耳蜗，这可能会显着改善受影响个体的发育结果和沟通。将内耳畸形视为诊断标准，超出了临床诊断的意义。更好地了解这些畸形可以增进对CHARGE病理生理学的了解。它还可能有助于指导未来的靶向治疗研究，以减轻内耳异常对听力和平衡功能的影响。
方法：
