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高危婴儿的听力学和遗传学研究。

Audiological and genetics studies in high-risk infants.

机构信息

Curso de Fonoaudiologia, Faculdade de Ciências Médicas, Unicamp.

出版信息

Braz J Otorhinolaryngol. 2011 Nov-Dec;77(6):784-90. doi: 10.1590/S1808-86942011000600016.

DOI:10.1590/S1808-86942011000600016
PMID:22183286
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9443818/
Abstract

UNLABELLED

Hearing is one of the main ways with which one person can contact the external world; it plays a key role in their integration with society.

AIM

The objective of this study was to analyze the results of the hearing, medical and genetic evaluation of high-risk infants who failed the newborn hearing screening.

MATERIALS AND METHODS

Clinical and experimental study. We assessed thirty-eight neonates, with ages between one and six months. The infants underwent the following procedures: medical interview; immittance testing; Brainstem Auditory Evoked Potential; Transient Evoked Otoacoustic Emission and otorhinolaryngological evaluation. DNA extraction from the oral mucosa was performed for genetic studies using the protocol method adapted from the Human Genetics Lab of the CBMEG/UNICAMP.

RESULTS

Regarding gender and presence of risk factors, significant statistically differences were not found in normal hearing infants and in those with hearing loss. Concerning gestational age, term infants were more affected by hearing loss. Hearing loss was identified in 58% of the sample, conduction hearing loss represented 31.5% (12/38) and neurossensory 28.9% of cases. There were none of the genetic mutations most commonly seen in cases with a genetic etiology.

CONCLUSION

Hearing loss was identified in the majority of High-risk infants.

摘要

未加标签

听力是一个人联系外部世界的主要方式之一;它在他们与社会的融合中起着关键作用。

目的

本研究旨在分析新生儿听力筛查未通过的高危婴儿的听力、医学和遗传评估结果。

材料和方法

临床和实验研究。我们评估了 38 名年龄在 1 至 6 个月之间的新生儿。婴儿接受了以下程序:医学访谈;声导抗测试;脑干听觉诱发电位;瞬态诱发耳声发射和耳鼻喉科评估。使用从 CBMEG/UNICAMP 的人类遗传学实验室改编的方案方法从口腔黏膜中提取 DNA 进行遗传研究。

结果

关于性别和危险因素的存在,在听力正常的婴儿和听力损失的婴儿之间没有发现显著的统计学差异。关于胎龄,足月婴儿听力损失的发生率更高。在样本中发现 58%的听力损失,传导性听力损失占 31.5%(12/38),神经感觉听力损失占 28.9%。没有发现最常见的具有遗传病因的基因突变。

结论

大多数高危婴儿都有听力损失。

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本文引用的文献

1
Auditory Brainstem Evoked Response: response patterns of full-term and premature infants.听觉脑干诱发电位:足月和早产儿的反应模式。
Braz J Otorhinolaryngol. 2010 Nov-Dec;76(6):729-38. doi: 10.1590/S1808-86942010000600011.
2
Conductive impairment in newborn who failed the newborn hearing screening.新生儿听力筛查未通过导致的传导性听力障碍。
Braz J Otorhinolaryngol. 2010 May-Jun;76(3):347-54. doi: 10.1590/S1808-86942010000300013.
3
Prevalence of auditory neuropathy (AN) among infants and young children with severe to profound hearing loss.重度至极重度听力损失婴幼儿中听觉神经病(AN)的患病率。
Int J Pediatr Otorhinolaryngol. 2009 Jul;73(7):937-9. doi: 10.1016/j.ijporl.2009.03.009. Epub 2009 May 5.
4
Acoustic immittance in children without otoacoustic emissions.无耳声发射儿童的声导抗
Braz J Otorhinolaryngol. 2008 May-Jun;74(3):410-6. doi: 10.1016/s1808-8694(15)30576-0.
5
Etiologic and audiologic evaluations after universal neonatal hearing screening: analysis of 170 referred neonates.普遍新生儿听力筛查后的病因学和听力学评估:170例转诊新生儿分析
Pediatrics. 2008 Jun;121(6):1119-26. doi: 10.1542/peds.2007-1479.
6
Universal newborn hearing screening: a question of evidence.新生儿听力普遍筛查:证据问题
Int J Audiol. 2008 Jan;47(1):1-10. doi: 10.1080/14992020701703547.
7
Year 2007 position statement: Principles and guidelines for early hearing detection and intervention programs.2007年立场声明:早期听力检测与干预项目的原则和指南
Pediatrics. 2007 Oct;120(4):898-921. doi: 10.1542/peds.2007-2333.
8
Hearing screening in a neonatal intensive care unit.新生儿重症监护病房中的听力筛查
J Pediatr (Rio J). 2006 Mar-Apr;82(2):110-4. doi: 10.2223/JPED.1457.
9
Prevalence of auditory neuropathy/synaptopathy in a population of children with profound hearing loss.重度听力损失儿童群体中听觉神经病/突触病变的患病率。
Int J Pediatr Otorhinolaryngol. 2006 Aug;70(8):1415-22. doi: 10.1016/j.ijporl.2006.02.010. Epub 2006 Mar 30.
10
Newborn hearing screening programs: overview.新生儿听力筛查项目:概述
J Otolaryngol. 2005 Aug;34 Suppl 2:S70-8.