Audiological phenotypes of CAPOS syndrome and initial intervention
JIN Dongdong
YAN Xiaohui
WANG Chenlu
WANG Yonghua
SHI Wendi
YUAN Xiaofeng
Abstract：Objective To report audiological phenotypes of CAPOS syndrome and the intervention methods.Methods Clinical and audiological data from two children with CAPOS syndrome diagnosed between August 2022 and February 2023 were collected to report audiological phenotypes and intervention outcomes.Result Both children devel-oped ataxia,optic nerve atrophy and sensorineural hearing loss following high fever.Genetic testing showed ATP1A3 gene c.2452G>A locus mutation in both of them.They were clinically diagnosed with CAPOS syndrome.The audio-logical phenotypes included type A tympanograms,absent auditory brainstem responses(ABRs),and preserved distor-tion product otoacoustic emissions(DPOAE)and the cochlear microphonics(CM),consistent with auditory neuropathy spectrum disorder(ANSD).Behavioral hearing thresholds were consistent with auditory steady-state response(ASSR)thresholds and both suggested ascending audiometric patterns.With hearing aids fitted,hearing thresholds were signifi-cantly improved,and the ITMAIS score continued to improve with long-term hearing aids use.Conclusion Sensorineu-ral hearing loss in CAPOS syndrome is a form of delayed ANSD,with high fever being a common precipitating factor.Attention needs to be paid to hearing changes after high fever in these individuals.ASSR thresholds in these children correlate with behavioral audiometric thresholds may serve as important references when reliable behavioral hearing test is not available.Children with CAPOS syndrome and elevated behavioral audiometric thresholds may benefit from wearing hearing aids.
Keywords：CAPOS syndromeATP1A3 geneDisorders of the spectrum of acoustic neuropathySensorineural hearing loss
Publication Date：2023-10-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 609-613 )