Etiology and Audiological Outcomes at 3 Years for 364 Children in Australia
Etiology and Audiological Outcomes at 3 Years for 364 Children in Australia
复制标题
DOI：
10.1371/journal.pone.0059624
复制
发表时间：
2013-03-28
期刊：
影响因子：
3.7
通讯作者：
Sjahalam-King, Jessica
中科院分区：
文献类型：
--
作者：
Dahl, Hans-Henrik M.;Ching, Teresa Y. C.;Sjahalam-King, Jessica
听力损失是一种病因异质性特征，在发病年龄、严重程度和病变部位上存在差异。它是由遗传和/或环境因素共同引起的。澳大利亚正在进行一项纵向研究，以检查早期干预对改善儿童结局的有效性。为了确定这些儿童听力损失的原因，我们对通过新生儿听力筛查或在婴儿期后期发现听力损失的儿童进行了围产期“Guthrie”血斑的分子检测。我们分析了GJB2和SLC26A4基因是否存在突变，筛选了线粒体DNA (mtDNA) A1555G突变，并筛选了从新生儿干血斑分离的DNA中是否存在先天性巨细胞病毒感染。结果来自364名儿童。我们为60%的儿童确定了病因。在82名儿童中存在一到两个已知的GJB2突变。24名儿童有一个或两个已知的SLC26A4突变。在32名儿童中发现GJB2或SLC26A4的变化对听力的影响未知。1例患儿发现A1555G突变，28例患儿发现巨细胞病毒感染。26例DNA检测阴性的患儿被确诊为听觉神经病变谱系障碍。第二个目的是调查3岁前的病因学和听力学结果之间的关系。采用回归分析探讨听力水平与病因的关系。数据分析不支持病因对听力损失程度或听力损失进展的差异影响的存在。
Hearing loss is an etiologically heterogeneous trait with differences in the age of onset, severity and site of lesion. It is caused by a combination of genetic and/or environmental factors. A longitudinal study to examine the efficacy of early intervention for improving child outcomes is ongoing in Australia. To determine the cause of hearing loss in these children we undertook molecular testing of perinatal "Guthrie'' blood spots of children whose hearing loss was either detected via newborn hearing screening or detected later in infancy. We analyzed the GJB2 and SLC26A4 genes for the presence of mutations, screened for the mitochondrial DNA (mtDNA) A1555G mutation, and screened for congenital CMV infection in DNA isolated from dried newborn blood spots. Results were obtained from 364 children. We established etiology for 60% of children. One or two known GJB2 mutations were present in 82 children. Twenty-four children had one or two known SLC26A4 mutations. GJB2 or SLC26A4 changes with unknown consequences on hearing were found in 32 children. The A1555G mutation was found in one child, and CMV infection was detected in 28 children. Auditory neuropathy spectrum disorder was confirmed in 26 children whose DNA evaluations were negative. A secondary objective was to investigate the relationship between etiology and audiological outcomes over the first 3 years of life. Regression analysis was used to investigate the relationship between hearing levels and etiology. Data analysis does not support the existence of differential effects of etiology on degree of hearing loss or on progressiveness of hearing loss.