耳聋基因及听力联合筛查对大前庭水管综合征早期诊断率的影响

Effect of Combined Screening of Hearing and Gene on Early Diagnosis Rate of Large Vestibular Aqueduct Syndrome

目的分析大前庭水管综合征(large vestibular aqueduct syndrome,LVAS)患儿首次诊断的基本特征和延迟就诊的影响因素,探讨耳聋基因及听力联合筛查对其早期诊断率的影响。方法对2014年1月~2021年6月在本院首诊的276例LVAS患儿资料进行回顾性研究,分析276例患儿首次诊断的基本特征,包括首诊年龄、主诉、听力损失程度,家族遗传史,出生听力筛查和耳聋基因筛查史等。采用卡方检验,根据就诊的基本情况,对未能在婴儿期及时就诊的原因进行单因素分析。对完成SLC26A4耳聋基因和听力联合筛查的患儿进行分析,比较两者未通过率的差异。结果①首次就诊在婴儿期的仅为29.71%;主诉为出生筛查未通过占27.54%;听力损失程度分布为轻、中、重、极重度,以中度及重度为主;出生听力筛查中有双耳或单耳通过者;完善耳聋基因及听力联合筛查51例。②就诊延迟的原因主要与出生听力筛查通过或单耳通过,听力筛查未做或筛查史不详,听力损失程度不重,婴儿期家长对患儿听力异常的判断不足有关。③婴儿期就诊以出生筛查未通过为主,而行耳聋基因及听力联合筛查者、有家族遗传史者早期就诊率更高。④耳聋基因及听力联合筛查的51例患儿中,听力筛查未通过率为84.31%,SLC26A4基因筛查未通过率为80.39%,总未通过率较高为96.08%,差异有统计学意义。结论部分LVAS患儿早期听力损失程度较轻,可能表现为听力筛查单耳或双耳通过,在婴儿期的就诊率低。单纯SLC26A4耳聋基因筛查的未通过率不高于听力筛查;但两者的联合筛查,可较早明确病因,提高该病的早期诊断率。

Objective To analyze the basic characteristics of the first diagnosis of large vestibular aqueduct syndrome(LVAS) and the influencing factors of delayed diagnosis,and to investigate the effect of combined screening of deafness gene and hearing on early diagnosis rate of children with LVAS.Methods A retrospective study was conducted on 276 children with LVAS who were first diagnosed in our hospital from January 2014 to June 2012.The characteristics of 276 children with LVAS were analyzed,including age of first diagnosis,chief complaint,degree of hearing loss,family genetic history,newborn hearing screening and deafness gene screening history,etc.Using chi-square test,the causes of failure to see a doctor in infancy were analyzed by univariate analysis.The children who completed combined screening for SLC26A4 gene and hearing were analyzed to compare the difference in failure rate between the two screen methods.Results The rate of first visit in infancy was only 29.71%.Only 27.54%of the chief complaints were failure of newborn screening.The degree of hearing loss was mild,moderate,severe and extremely severe,and moderate and severe were the main ones.Some cases passed binaural or monaural newborn hearing screening.The combined screening of deafness gene and hearing was improved in 51 cases.The reasons for delay were mainly related to passing birth hearing screening or passing monaural screening,not doing hearing screening or unknown screening history,the degree of hearing loss was not serious,and parents’insufficient judgment of hearing abnormalities in infants.The main reason for early diagnosis was failure of newborn screening,while the early diagnosis rate was higher in patients with family history and failed to combined screening of deafness gene and hearing.In 51 children with combined screening,the failure rate of hearing screening was 84.31%,SLC26A4 gene screening was 80.39%,and the total failure rate was 96.08%,the difference was statistically significant.Conclusions Some children with LVAS have mild or normal early hearing loss,which can pass the binaural or monaural newborn hearing screening,and the consultation rate in infancy is low.The failure rate of SLC26A4 deafness gene screening is not higer than that of hearing screening.But the combined screening can identify the etiology earlier and improve the early diagnosis rate of the disease.