大前庭水管综合征诊疗临床实践指南OA

Enlarged vestibular aqueduct syndrome(EVAS)is a common autosomal recessive hereditary condition characterized by congenital inner ear malformations and sensorineural hearing loss,closely associated with SLC26A4 gene defects.To standardize the clinical diagnosis and treatment of EVAS,the National Clinical Research Center for Otolaryngologic Diseases invited multidisciplinary experts to develop these guidelines.Following traditional methodology for developing clinical practice guidelines,the expert panel systematically reviewed international and domestic evidence,with special attention to clinical data from the Chinese population,and formulated 34 recommendations.The recommendations cover imaging diagnosis,genetic testing,audiological and vestibular assessment,pharmacotherapy,hearing aid fitting,cochlear implantation,auditory rehabilitation,genetic counseling,and prevention of birth defect progressive hearing loss.