CAPOS综合征的听力学表型与初步干预讨论

Audiological phenotypes of CAPOS syndrome and initial intervention

目的探讨小脑共济失调、腱反射消失、弓形足、视神经萎缩和感音神经性耳聋(CAPOS)综合征的听力学表型及干预方法。方法分析2例CAPOS综合征患儿的临床听力学资料,总结患儿听力学表型及干预效果。结果2例患儿均为高热后出现共济失调、视神经萎缩、感音神经性听力损失。基因检测结果显示均存在ATP1A3基因c.2452G>A位点突变,临床诊断为CAPOS综合征。听力学临床表型为226Hz声导抗双耳A型,听性脑干反应(ABR)最大刺激97dB nHL未引出,畸变产物耳声发射(DPOAE)通过,耳蜗微音电位(CM波)双耳可引出,符合听神经病谱系障碍(ANSD)的诊断。行为听阈和听性稳态反应(ASSR)呈相似上坡型曲线;助听听阈显著降低,且长期佩戴助听器后婴幼儿有意义听觉整合量表(ITMAIS)得分较助听前有显著提高。结论CAPOS综合征感音神经性听力损失属于迟发性ANSD,高烧是常见诱发因素之一,临床需预警高热、密切随访,高度关注高热后的听力变化。行为测听助听听阈提升的患儿可从助听器放大效应中获益,推测ASSR阈值与行为测听阈值存在相关性,对于无法得到可靠行为听阈的患儿,ASSR阈值可能可以作为重要的参考。

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 developed 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 audiological phenotypes included type A tympanograms,absent auditory brainstem responses(ABRs),and preserved distortion 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 significantly improved,and the ITMAIS score continued to improve with long-term hearing aids use.Conclusion Sensorineural 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.