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.