Declau Frank, Boudewyns An, Van den Ende Jenneke, Peeters Anouk, van den Heyning Paul
Department of Otorhinolaryngology, Head and Neck Surgery, and Communication Disorders, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, Belgium.
Pediatrics. 2008 Jun;121(6):1119-26. doi: 10.1542/peds.2007-1479.
The goal was to clarify the audiologic aspects and causes of congenital hearing loss in children who failed universal neonatal hearing screening.
A prospective analysis of 170 consecutive records of neonates referred to a tertiary center after universal neonatal hearing screening failure, between 1998 and 2006, was performed. The data presented here represent the equivalent of approximately 87000 screened newborns. The screening results were validated with a clinical ear, nose, and throat examination and electrophysiological testing, including diagnostic auditory brainstem response, automated steady state response, and/or behavioral testing. A diagnostic evaluation protocol for identification of the cause of the hearing loss was also implemented, in collaboration with the departments of genetics and pediatrics.
Permanent hearing loss was confirmed in 116 children (68.2%). Bilateral hearing loss was diagnosed in 68 infants (58.6%) and unilateral hearing loss in 48 infants (41.4%). Median thresholds for the neonates with confirmed hearing loss were severe in both unilateral and bilateral cases, at 70 dB nHL and 80 dB nHL, respectively. In 55.8% of those cases, no risk factors for hearing loss were found. In 60.4%, the initial automated auditory brainstem response diagnosis was totally in agreement with the audiologic evaluation results. In 8.3% of the cases, however, a unilateral refer result was finally classified as bilateral hearing loss. An etiologic factor could be identified in 55.2% of the cases. Of the causes identified, a genetic mechanism was present in 60.4% of the cases, peripartal problems in 20.8%, and congenital cytomegalovirus infection in 18.8%.
An etiologic factor could be identified for nearly one half of the children with confirmed congenital hearing loss referred through a universal hearing screening program.
本研究旨在阐明在新生儿听力普遍筛查未通过的儿童中，先天性听力损失的听力学特征及病因。
对1998年至2006年间在一家三级医疗中心接受转诊的170例新生儿听力普遍筛查未通过的连续病例记录进行前瞻性分析。此处呈现的数据相当于约87000例接受筛查的新生儿。筛查结果通过临床耳鼻喉检查及电生理测试进行验证，包括诊断性听性脑干反应、自动稳态反应和/或行为测试。还与遗传学和儿科部门合作实施了一项用于确定听力损失原因的诊断评估方案。
116名儿童（68.2%）被确诊为永久性听力损失。68名婴儿（58.6%）被诊断为双侧听力损失，48名婴儿（41.4%）为单侧听力损失。确诊听力损失的新生儿，单侧和双侧病例的平均听阈均为重度，分别为70 dB nHL和80 dB nHL。在这些病例中，55.8%未发现听力损失的危险因素。在60.4%的病例中，最初的自动听性脑干反应诊断与听力学评估结果完全一致。然而，在8.3%的病例中，最初的单侧转诊结果最终被归类为双侧听力损失。55.2%的病例可确定病因。在已确定的病因中，60.4%存在遗传机制，20.8%存在围产期问题，18.8%存在先天性巨细胞病毒感染。
通过普遍听力筛查项目转诊的确诊先天性听力损失儿童中，近一半可确定病因。
