Kecskeméti Nóra, Gáborján Anita, Szőnyi Magdolna, Küstel Marianna, Baranyi Ildikó, Molnár Mária Judit, Tamás László, Gál Anikó, Szirmai Ágnes
Fül-, Orr-, Gégészeti és Fej-, Nyaksebészeti Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Szigony u. 36., 1083.
Genomikai Medicina és Ritka Betegségek Intézete, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.
Orv Hetil. 2019 May;160(21):822-828. doi: 10.1556/650.2019.31398.
Congenital sensorineural hearing loss is one of the most common sensory defects affecting 1-3 children per 1000 newborns. There are a lot of causes which result in congenital hearing loss, the most common is the genetic origin, but infection, cochlear malformation or other acquired causes can be reasons as well. The aim of this study was to establish the etiological factors of congenital profound sensorineural hearing loss in children who underwent cochlear implantation. Our results show that the origin of the hearing loss was discovered in 62.9% of our patients. The most common etiological factor was the c.35delG mutation of the gene, the allele frequency was 38.7% in our cohort. Infection constituted to 10.1%, and meningitis and cytomegalovirus infection were the second most common cause. 79.9% of our patients received sufficient hearing rehabilitation before the end of the speech development's period (6 years old), but 11.2% of our cases were still diagnosed late. Based on our data we can state that genetic evaluation is crucial in the diagnostic process of congenital profound sensorineural hearing loss. Sufficient hearing rehabilitation affects the whole life of the child, and by late cochlear implantation the speech development falls behind. We can decrease the ratio of the late implantation with the new protocol of newborn hearing screening, and with sufficient information provided to the colleagues, so the children may be referred to the proper center for rehabilitation without delay. Orv Hetil. 2019; 160(21): 822-828.
先天性感音神经性听力损失是最常见的感觉缺陷之一,每1000名新生儿中有1 - 3名儿童受其影响。导致先天性听力损失的原因众多,最常见的是遗传因素,但感染、耳蜗畸形或其他后天因素也可能是病因。本研究的目的是确定接受人工耳蜗植入的儿童先天性重度感音神经性听力损失的病因。我们的结果显示,62.9%的患者听力损失病因得以明确。最常见的病因是该基因的c.35delG突变,在我们的队列中,等位基因频率为38.7%。感染占10.1%,脑膜炎和巨细胞病毒感染是第二常见病因。79.9%的患者在言语发育阶段(6岁)结束前接受了充分的听力康复,但11.2%的病例仍被诊断较晚。基于我们的数据可以表明,基因评估在先天性重度感音神经性听力损失的诊断过程中至关重要。充分的听力康复影响儿童的一生,而人工耳蜗植入过晚会导致言语发育落后。通过新生儿听力筛查新方案以及向同事提供充分信息,我们可以降低植入延迟的比例,从而使儿童能够及时被转诊至合适的康复中心。《匈牙利医学周报》。2019年;160(21): 822 - 828。