婴幼儿听神经病谱系障碍与人工耳蜗植入研究进展
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摘要
<正>听神经病谱系障碍(auditory neuropathy spectrum disorder,ANSD),于20世纪90年代由Starr等~([1])首次报道了这种言语识别率与纯音听阈不成比例的听力障碍的表现形式,Starr等称之为听神经病(auditory neuropathy,AN)。感音神经性聋(sensorineural hearing loss,SNHL)患者通常表现为听力损失程度与言语识别率成比例下降。而AN
Auditory neuropathy is a disorder characterized by absent or severely abnormal auditory brainstem response(ABR)with intact outer hair cell function,as evidenced by the presence of evoked otoacoustic emissions and/or cochlear microphonics.Unlike patients with sensory hearing loss who show clinical evidence of impaired outer hair cell function.For ANSD patients,clinical rehabilitation is mainly limited to hearing aid wearing and cochlear implantation.However,the effect of cochlear implantation for ANSD patients may be difference.The outcome of cochlear implantation is related to the lesion location,the age of implantation and the diameter of cochlear nerve.
Auditory neuropathy is a disorder characterized by absent or severely abnormal auditory brainstem response(ABR)with intact outer hair cell function,as evidenced by the presence of evoked otoacoustic emissions and/or cochlear microphonics.Unlike patients with sensory hearing loss who show clinical evidence of impaired outer hair cell function.For ANSD patients,clinical rehabilitation is mainly limited to hearing aid wearing and cochlear implantation.However,the effect of cochlear implantation for ANSD patients may be difference.The outcome of cochlear implantation is related to the lesion location,the age of implantation and the diameter of cochlear nerve.
引文
[1]STARR A,MCPHERSON D,PATTERSON J,et al.Absence of both auditory evoked potentials and auditory percepts dependent on timing cues[J].Brain,1991,114:1157-1180.
[2]STARR A,PICTON T W,SININGER Y,et al.Auditory neuropathy[J].Brain,1996,119:741-753.
[3]冀飞,吴南.听神经病的诊断和干预[J].中国听力语言康复科学杂志,2017,15(1):61-66.
[4]GKDOGAN,ALTINYAY S,GNDZ B,et al.Management of children with auditory neuropathy spectrum disorder(ANSD)[J].Braz J Otorhinolaryngol,2016,82:493-499.
[5]黄丽辉.婴幼儿听神经病谱系障碍诊断及处理指南---婴幼儿听神经病诊断及处理指南研讨会制订(2008年,意大利,科莫)[J].听力学及言语疾病杂志,2012,20(1):64-69.
[6]王兴龙.ANSD患者病变部位和病变程度的研究[D].武汉:华中科技大学,2016.
[7]HE S,ABBAS P J,DOYLE D V,et al.Temporal response properties of the auditory nerve in implanted children with auditory neuropathy spectrum disorder and implanted children with sensorineural hearing loss[J].Ear Hear,2016,37:397-411.
[8]DOYLE K J,RODGERS P,FUJIKAWA S,et al.External and middle ear effects on infant hearing screening test results[J].Otolaryngol Head Neck Surg,2000,122:477-481.
[9]MADDEN C,HILBERT L,RUTTER M,et al.Pediatric cochlear implantation in auditory neuropathy[J].Otol Neurotol,2002,23:163-168.
[10]PSAROMMATIS I,RIGA M,DOUROS K,et al.Transient infantile auditory neuropathy and its clinical implications[J].Int J Pediatr Otorhinolaryngol,2006,70:1629-1637.
[11]APEKSHA K,KUMAR A U.Speech perception in quiet and in noise condition in individuals with auditory neuropathy spectrum disorder[J].J Int Adv Otol,2017,13:83-87.
[12]NASH R,VENESS J,WYATT M,et al.Vestibular function in children with auditory neuropathy spectrum disorder[J].Int J Pediatr Otorhinolaryngol,2014,78:1269-1273.
[13]PRABHU P,JAMUAR P.Prevalence of vestibular symptoms in individuals with auditory neuropathy spectrum disorder-A retrospective study[J].Intractable Rare Dis Res,2017,6:46-49.
[14]PRABHU P,JAMUAR P.Evaluation of dizziness handicap in adolescents and adults with auditory neuropathy spectrum disorder[J].Int Arch Otorhinolaryngol,2018,22:14-18.
[15]ZENG F G,OBA S,GARDE S,et al.Temporal and speech processing deficits in auditory neuropathy[J].Neuroreport,1999,10:3429-3435.
[16]RANCE G,MCKAY C,GRAYDEN D.Perceptual characterization of children with auditory neuropathy[J].Ear Hear,2004,25:34-46.
[17]SHARMA A,CARDON G.Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder[J].Hear Res,2015,330:221-232.
[18]RANCE G,BARKER E J.Speech perception in children with auditory neuropathy/dyssynchrony managed with either hearing AIDS or cochlear implants[J].Otol Neurorol,2008,29:179-182.
[19]KAGA K.Auditory nerve disease and auditory neuropathy spectrum disorders[J].Auris Nasus Larynx,2016,43:10-20.
[20]HUMPHRISS R,HALL A,MADDOCKS J,et al.Does cochlear implantation improve speech recognition in children with auditory neuropathy spectrum disorder?A systematic review[J].Int J Audiol,2013,52:442-454.
[21]BRENEMAN A I,GIFFORD R H,DEJONG M D.Cochlear implantation in children with auditory neuropathy spectrum disorder:long-term outcomes[J].JAm Acad Audiol,2012,23:5-17.
[22]GIBSON W P,SANLI H.Auditory neuropathy:an update[J].Ear Hear,2007,28:102S-106S.
[23]董瑞娟,王硕,刘冬鑫,等.听神经病谱系障碍患者噪声下言语识别能力研究[J].中华耳科学杂志,2015,13(4):604-607.
[24]张秋静,王秋菊.听神经病谱系障碍的病变部位和定位分型诊断[J].中华耳科学杂志,2015,13(2):202-205.
[25]MANCHAIAH V K,ZHAO F,DANESH A A,et al.The genetic basis of auditory neuropathy spectrum disorder(ANSD)[J].Int J Pediatr Otorhinolaryngol,2011,75:151-158.
[26]SANTARELLI R,STARR A,CASTILLO I D,et al.Presynaptic and postsynaptic mechanisms underlying auditory neuropathy in patients with mutations in the OTOF or OPA1gene[J].Audiological Medicine,2011,9:59-66.
[27]HAN K H,OH D Y,LEE S,et al.ATP1A3mutations can cause progressive auditory neuropathy:a new gene of auditory synaptopathy[J].Sci Rep,2017,7:16504.
[28]张娇.中国听神经病谱系障碍患者临床特征及DI-APH3基因临床遗传学特征研究[D].北京:中国人民解放军医学院,2014.
[29]SCHOEN C J,KING M C.Increased activity of Diaphanous homolog 3(DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila[J].Proc Natl Acad Sci U S A,2010,107:13396-13401.
[30]VARGA R,KELLEY P M,KEATS B J,et al.Nonsyndromic recessive auditory neuropathy is the result of mutations in the otoferlin(OTOF)gene[J].J Med Genet,2003,40:45-50.
[31]闫艳.听神经病谱系障碍人工耳蜗植入疗效及其与基因的相关性分析[D].北京:中国人民解放军医学院,2016.
[32]齐悦.SLC17A8基因与听神经病[J].听力学及言语疾病杂志,2013,21(1):82-85.
[33]WANG Y,PANG Y W,DONG Y L,et al.Localization of vesicular glutamate transporters in the peripheral vestibular system of rat[J].Neurosci Bull,2007,23:175-179.
[34]RUEL J,EMERY S,NOUVIAN R,et al.Impairment of SLC17A8encoding vesicular glutamate transporter-3,VGLUT3,underlies nonsyndromic deafness DFNA25and inner hair cell dysfunction in null mice[J].Am J Hum Genet,2008,83:278-292.
[35]WANG Q,RAO S,GUO Y,et al.The genetic load for hereditary hearing impairment in Chinese population and its clinical implication[J].J Otol,2009,4:98-105.
[36]YU W,BONNET M,FARSO M,et al.The expression of apoptosis inducing factor(AIF)is associated with aging-related cell death in the cortex but not in the hippocampus in the TgCRND8 mouse model of Alzheimer's disease[J].BMC Neurosci,2014,15:73.
[37]DELMAGHANI S,DEL CASTILLO F J,MICHELV,et al.Mutations in the gene encoding pejvakin,a newly identified protein of the afferent auditory pathway,cause DFNB59auditory neuropathy[J].Nat Genet,2006,38:770-778.
[38]张秋静,王秋菊.PJVK基因与听神经病[J].听力学及言语疾病杂志,2011,19(4):380-382.
[39]HARRIS S L,KAZMIERCZAK M,PANGRIC T,et al.Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice[J].Neuroscience,2017,344:380-393.
[40]WANG J,FAN Y Y,WANG S J,et al.Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder[J].Plos One,2011,6:e24000.
[41]LIU Y,DONG R,LI Y,et al.Effect of age at cochlear implantation on auditory and speech development of children with auditory neuropathy spectrum disorder[J].Auris Nasus Larynx,2014,41:502-506.
[42]DANESHI A,MIRSALEHI M,HASHEMI S B,et al.Cochlear implantation in children with auditory neuropathy spectrum disorder:A multicenter study on auditory performance and speech production outcomes[J].Int J Pediatr Otorhinolaryngol,2018,108:12-16.
[43]HARRISON R V,GORDON K A,PAPSIN B C,et al.Auditory neuropathy spectrum disorder(ANSD)and cochlear implantation[J].Int J Pediatr Otorhinolaryngol,2015,79:1980-1987.
[44]GLASTONBURY C M,DAVIDSON H C,HARNS-BERGER H R,et al.Imaging findings of cochlear nerve deficiency[J].AJNR Am J Neuroradiol,2002,23:635-643.
[45]VALERO J,BLASER S,PAPSIN B C,et al.Electrophysiologic and behavioral outcomes of cochlear implantation in children with auditory nerve hypoplasia[J].Ear Hear,2012,33:3-18.
[46]张娇,张秋静,齐悦,等.耳蜗神经发育不良听神经病谱系障碍患者听力学分析[J].中华耳科学杂志,2015,13(2):242-245.
[47]WEI X,LI Y,CHEN B,et al.Predicting Auditory Outcomes From Radiological Imaging in Cochlear Implant Patients With Cochlear Nerve Deficiency[J].Int J Pediatr Otorhinolaryngol,2017,76:685-693.
[48]WALTON J,GIBSON W P,SANLI H,et al.Predicting cochlear implant outcomes in children with auditory neuropathy[J].Otol Neurotol,2008,29:302-309.
[49]JEONG S W,KIM L S.Auditory neuropathy spectrum disorder:predictive value of radiologic studies and electrophysiologic tests on cochlear implant outcomes and its radiologic classification[J].Acta otolaryngologica,2013,133:714-721.
[50]莫玲燕,燕飞,刘辉,等.小儿类听神经病的临床表现[J].临床耳鼻咽喉头颈外科杂志,2011,25(22):1012-1014.
[2]STARR A,PICTON T W,SININGER Y,et al.Auditory neuropathy[J].Brain,1996,119:741-753.
[3]冀飞,吴南.听神经病的诊断和干预[J].中国听力语言康复科学杂志,2017,15(1):61-66.
[4]GKDOGAN,ALTINYAY S,GNDZ B,et al.Management of children with auditory neuropathy spectrum disorder(ANSD)[J].Braz J Otorhinolaryngol,2016,82:493-499.
[5]黄丽辉.婴幼儿听神经病谱系障碍诊断及处理指南---婴幼儿听神经病诊断及处理指南研讨会制订(2008年,意大利,科莫)[J].听力学及言语疾病杂志,2012,20(1):64-69.
[6]王兴龙.ANSD患者病变部位和病变程度的研究[D].武汉:华中科技大学,2016.
[7]HE S,ABBAS P J,DOYLE D V,et al.Temporal response properties of the auditory nerve in implanted children with auditory neuropathy spectrum disorder and implanted children with sensorineural hearing loss[J].Ear Hear,2016,37:397-411.
[8]DOYLE K J,RODGERS P,FUJIKAWA S,et al.External and middle ear effects on infant hearing screening test results[J].Otolaryngol Head Neck Surg,2000,122:477-481.
[9]MADDEN C,HILBERT L,RUTTER M,et al.Pediatric cochlear implantation in auditory neuropathy[J].Otol Neurotol,2002,23:163-168.
[10]PSAROMMATIS I,RIGA M,DOUROS K,et al.Transient infantile auditory neuropathy and its clinical implications[J].Int J Pediatr Otorhinolaryngol,2006,70:1629-1637.
[11]APEKSHA K,KUMAR A U.Speech perception in quiet and in noise condition in individuals with auditory neuropathy spectrum disorder[J].J Int Adv Otol,2017,13:83-87.
[12]NASH R,VENESS J,WYATT M,et al.Vestibular function in children with auditory neuropathy spectrum disorder[J].Int J Pediatr Otorhinolaryngol,2014,78:1269-1273.
[13]PRABHU P,JAMUAR P.Prevalence of vestibular symptoms in individuals with auditory neuropathy spectrum disorder-A retrospective study[J].Intractable Rare Dis Res,2017,6:46-49.
[14]PRABHU P,JAMUAR P.Evaluation of dizziness handicap in adolescents and adults with auditory neuropathy spectrum disorder[J].Int Arch Otorhinolaryngol,2018,22:14-18.
[15]ZENG F G,OBA S,GARDE S,et al.Temporal and speech processing deficits in auditory neuropathy[J].Neuroreport,1999,10:3429-3435.
[16]RANCE G,MCKAY C,GRAYDEN D.Perceptual characterization of children with auditory neuropathy[J].Ear Hear,2004,25:34-46.
[17]SHARMA A,CARDON G.Cortical development and neuroplasticity in Auditory Neuropathy Spectrum Disorder[J].Hear Res,2015,330:221-232.
[18]RANCE G,BARKER E J.Speech perception in children with auditory neuropathy/dyssynchrony managed with either hearing AIDS or cochlear implants[J].Otol Neurorol,2008,29:179-182.
[19]KAGA K.Auditory nerve disease and auditory neuropathy spectrum disorders[J].Auris Nasus Larynx,2016,43:10-20.
[20]HUMPHRISS R,HALL A,MADDOCKS J,et al.Does cochlear implantation improve speech recognition in children with auditory neuropathy spectrum disorder?A systematic review[J].Int J Audiol,2013,52:442-454.
[21]BRENEMAN A I,GIFFORD R H,DEJONG M D.Cochlear implantation in children with auditory neuropathy spectrum disorder:long-term outcomes[J].JAm Acad Audiol,2012,23:5-17.
[22]GIBSON W P,SANLI H.Auditory neuropathy:an update[J].Ear Hear,2007,28:102S-106S.
[23]董瑞娟,王硕,刘冬鑫,等.听神经病谱系障碍患者噪声下言语识别能力研究[J].中华耳科学杂志,2015,13(4):604-607.
[24]张秋静,王秋菊.听神经病谱系障碍的病变部位和定位分型诊断[J].中华耳科学杂志,2015,13(2):202-205.
[25]MANCHAIAH V K,ZHAO F,DANESH A A,et al.The genetic basis of auditory neuropathy spectrum disorder(ANSD)[J].Int J Pediatr Otorhinolaryngol,2011,75:151-158.
[26]SANTARELLI R,STARR A,CASTILLO I D,et al.Presynaptic and postsynaptic mechanisms underlying auditory neuropathy in patients with mutations in the OTOF or OPA1gene[J].Audiological Medicine,2011,9:59-66.
[27]HAN K H,OH D Y,LEE S,et al.ATP1A3mutations can cause progressive auditory neuropathy:a new gene of auditory synaptopathy[J].Sci Rep,2017,7:16504.
[28]张娇.中国听神经病谱系障碍患者临床特征及DI-APH3基因临床遗传学特征研究[D].北京:中国人民解放军医学院,2014.
[29]SCHOEN C J,KING M C.Increased activity of Diaphanous homolog 3(DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila[J].Proc Natl Acad Sci U S A,2010,107:13396-13401.
[30]VARGA R,KELLEY P M,KEATS B J,et al.Nonsyndromic recessive auditory neuropathy is the result of mutations in the otoferlin(OTOF)gene[J].J Med Genet,2003,40:45-50.
[31]闫艳.听神经病谱系障碍人工耳蜗植入疗效及其与基因的相关性分析[D].北京:中国人民解放军医学院,2016.
[32]齐悦.SLC17A8基因与听神经病[J].听力学及言语疾病杂志,2013,21(1):82-85.
[33]WANG Y,PANG Y W,DONG Y L,et al.Localization of vesicular glutamate transporters in the peripheral vestibular system of rat[J].Neurosci Bull,2007,23:175-179.
[34]RUEL J,EMERY S,NOUVIAN R,et al.Impairment of SLC17A8encoding vesicular glutamate transporter-3,VGLUT3,underlies nonsyndromic deafness DFNA25and inner hair cell dysfunction in null mice[J].Am J Hum Genet,2008,83:278-292.
[35]WANG Q,RAO S,GUO Y,et al.The genetic load for hereditary hearing impairment in Chinese population and its clinical implication[J].J Otol,2009,4:98-105.
[36]YU W,BONNET M,FARSO M,et al.The expression of apoptosis inducing factor(AIF)is associated with aging-related cell death in the cortex but not in the hippocampus in the TgCRND8 mouse model of Alzheimer's disease[J].BMC Neurosci,2014,15:73.
[37]DELMAGHANI S,DEL CASTILLO F J,MICHELV,et al.Mutations in the gene encoding pejvakin,a newly identified protein of the afferent auditory pathway,cause DFNB59auditory neuropathy[J].Nat Genet,2006,38:770-778.
[38]张秋静,王秋菊.PJVK基因与听神经病[J].听力学及言语疾病杂志,2011,19(4):380-382.
[39]HARRIS S L,KAZMIERCZAK M,PANGRIC T,et al.Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice[J].Neuroscience,2017,344:380-393.
[40]WANG J,FAN Y Y,WANG S J,et al.Variants of OTOF and PJVK genes in Chinese patients with auditory neuropathy spectrum disorder[J].Plos One,2011,6:e24000.
[41]LIU Y,DONG R,LI Y,et al.Effect of age at cochlear implantation on auditory and speech development of children with auditory neuropathy spectrum disorder[J].Auris Nasus Larynx,2014,41:502-506.
[42]DANESHI A,MIRSALEHI M,HASHEMI S B,et al.Cochlear implantation in children with auditory neuropathy spectrum disorder:A multicenter study on auditory performance and speech production outcomes[J].Int J Pediatr Otorhinolaryngol,2018,108:12-16.
[43]HARRISON R V,GORDON K A,PAPSIN B C,et al.Auditory neuropathy spectrum disorder(ANSD)and cochlear implantation[J].Int J Pediatr Otorhinolaryngol,2015,79:1980-1987.
[44]GLASTONBURY C M,DAVIDSON H C,HARNS-BERGER H R,et al.Imaging findings of cochlear nerve deficiency[J].AJNR Am J Neuroradiol,2002,23:635-643.
[45]VALERO J,BLASER S,PAPSIN B C,et al.Electrophysiologic and behavioral outcomes of cochlear implantation in children with auditory nerve hypoplasia[J].Ear Hear,2012,33:3-18.
[46]张娇,张秋静,齐悦,等.耳蜗神经发育不良听神经病谱系障碍患者听力学分析[J].中华耳科学杂志,2015,13(2):242-245.
[47]WEI X,LI Y,CHEN B,et al.Predicting Auditory Outcomes From Radiological Imaging in Cochlear Implant Patients With Cochlear Nerve Deficiency[J].Int J Pediatr Otorhinolaryngol,2017,76:685-693.
[48]WALTON J,GIBSON W P,SANLI H,et al.Predicting cochlear implant outcomes in children with auditory neuropathy[J].Otol Neurotol,2008,29:302-309.
[49]JEONG S W,KIM L S.Auditory neuropathy spectrum disorder:predictive value of radiologic studies and electrophysiologic tests on cochlear implant outcomes and its radiologic classification[J].Acta otolaryngologica,2013,133:714-721.
[50]莫玲燕,燕飞,刘辉,等.小儿类听神经病的临床表现[J].临床耳鼻咽喉头颈外科杂志,2011,25(22):1012-1014.