Beutner Dirk, Foerst Astrid, Lang-Roth Ruth, von Wedel Hasso, Walger Martin
Department of Otorhinolaryngology, Head and Neck Surgery, University of Cologne, Cologne, Germany.
ORL J Otorhinolaryngol Relat Spec. 2007;69(4):239-44. doi: 10.1159/000101545. Epub 2007 Apr 4.
It was the aim of this study to describe risk factors in auditory neuropathy/auditory synaptopathy (AN/AS).
Between 1997 and 2005, we diagnosed 37 children with AN/AS. They underwent a critical chart review for risk factors and etiological coincidences in this idiosyncratic disorder.
Eighteen neonates had a history of prematurity and low birth weight. Hyperbilirubinaemia was present in 13 children. Three patients had evidence of infection during pregnancy, and AN/AS was associated with complex syndromal diseases in 2 cases. A congenital, familial pattern was seen in 2 siblings. Seven patients had idiopathic AN/AS.
Rather than being a single etiological entity, AN/AS comprises a spectrum of risk factors and associated problems affecting the cochlea and the auditory pathway. This study shows that the majority of AN/AS in children is the result of perinatal problems and is not genetic in origin. Hyperbilirubinaemia is a common and etiologically significant finding in infants suffering from AN/AS. Thus, early hearing screening for AN/AS including transient evoked otoacoustic emissions and auditory brainstem response assessment among neonates with risk factors for AN/AS is crucial in order to better manage patients suffering from this disorder.
本研究旨在描述听觉神经病/听觉突触病（AN/AS）的危险因素。
1997年至2005年间，我们诊断出37例患有AN/AS的儿童。他们针对这种特殊疾病的危险因素和病因巧合情况接受了严格的病历审查。
18例新生儿有早产和低出生体重史。13名儿童存在高胆红素血症。3例患者在孕期有感染迹象，2例AN/AS与复杂的综合征性疾病有关。2名兄弟姐妹呈现出先天性家族模式。7例患者患有特发性AN/AS。
AN/AS并非单一病因的疾病，而是包含一系列影响耳蜗和听觉通路的危险因素及相关问题。本研究表明，儿童AN/AS大多是围产期问题导致的，并非源于遗传。高胆红素血症在患有AN/AS的婴儿中是常见且具有病因学意义的发现。因此，对有AN/AS危险因素的新生儿进行包括瞬态诱发耳声发射和听觉脑干反应评估在内的AN/AS早期听力筛查，对于更好地管理患有这种疾病的患者至关重要。
