586例新生儿听力复筛未通过转诊者听力相关检查结果分析
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摘要
目的探讨威海市听力复筛未通过婴儿的听力学诊断及特点。方法回顾威海市2015年1月～2016年12月新生儿听力筛查中复筛未通过转诊到威海市听力诊断中心进行听力学诊断的586例婴儿资料,对其听力学、颞骨高分辨率CT扫描及基因检查结果进行整理分析。结果 3月龄确诊听力障碍124例,占转诊婴儿的21.16%(124/586),6月龄复诊仍然存在听力障碍有83例,占转诊例数的14.16%(83/586),单侧听力损失34例,占40.96%(34/83),双侧听力损失49例,占59.04%(49/83);感音神经性听力损失70例,占84.34%(70/83),传导性及混合性听力损失13例,占15.66%(13/83);6月龄复查有48例行颞骨CT检测,大前庭水管综合征14例,先天性小耳畸形8例,耳蜗畸形1例,中耳炎5例;20例听力学相关基因检测中有3例GJB2基因235delC纯合突变,5例GJB2基因235delC杂合突变杂合突变,2例SLC26A4基因IVS7-2A>G纯合突变,2例SLC26A4基因IVS7-2A>G杂合突变。结论婴儿听力诊断要结合ABR,ASSR,DPOAE,声导抗等客观检查并辅以影像学评估及基因检测来综合诊断,两次确诊可提高先天性听力障碍确诊率及干预率,对转诊婴儿要做好追踪随访。
Objective To analyze the audiological diagnosis results of infants who failed to hearing rescreening in Weihai City, Shandong Province.Methods To review the data of 586 infants who were referred to Weihai City Hearing Diagnosis Center from January 2015 to December 2016, and to analyze their, high-resolution CT scans around the temporal bone and genetic results.Results 124 hearing impairment infants, audiologic results were diagnosed at 3 months of age, accounting for 21.16%(124/586) of the referral infants. There were still 83 cases at 6 months of age, accounting for 14.16%(83/586) of the number of the referrals, including 34 cases with unilateral hearing loss. accounting for 40.96%(34/83), 49 cases with bilateral hearing loss, accounting for 59.04%(49/83); sensorineural hearing loss 70 cases, accounting for 84.34%(70/83), and 13 cases of conductive and mixed hearing loss accounting for 15.66%(13/83); At the age of six months, there were 48 cases of high-resolution CT scans of the temporal bone, 14 cases of large vestibular aqueduct syndrome, 8 cases of congenital microtia, 1 case of cochlea malformation and 5 cases of otitis media; 20 newborns received deafness-related gene detection, the numbers of newborns who carried homozygous mutation or heterozygous mutation in GJB2 c.235 delC were 3 and 5 respectively, 2 cases were found to carry the SLC26A4 c.IVS7-2A>G homozygous mutation while other 2 cases, to carry the SLC26A4 c.IVS7-2A>G heterozygous mutation.Conclusion The hearing diagnosis for referred infants should be combined with objective examinations such as ABR, ASSR, DPOAE, acoustic immittance and combined with imaging evaluation and gene detection. The two diagnoses can improve the diagnosis rate and intervention rate of congenital hearing impairment. referred infants should be followed up.
Objective To analyze the audiological diagnosis results of infants who failed to hearing rescreening in Weihai City, Shandong Province.Methods To review the data of 586 infants who were referred to Weihai City Hearing Diagnosis Center from January 2015 to December 2016, and to analyze their, high-resolution CT scans around the temporal bone and genetic results.Results 124 hearing impairment infants, audiologic results were diagnosed at 3 months of age, accounting for 21.16%(124/586) of the referral infants. There were still 83 cases at 6 months of age, accounting for 14.16%(83/586) of the number of the referrals, including 34 cases with unilateral hearing loss. accounting for 40.96%(34/83), 49 cases with bilateral hearing loss, accounting for 59.04%(49/83); sensorineural hearing loss 70 cases, accounting for 84.34%(70/83), and 13 cases of conductive and mixed hearing loss accounting for 15.66%(13/83); At the age of six months, there were 48 cases of high-resolution CT scans of the temporal bone, 14 cases of large vestibular aqueduct syndrome, 8 cases of congenital microtia, 1 case of cochlea malformation and 5 cases of otitis media; 20 newborns received deafness-related gene detection, the numbers of newborns who carried homozygous mutation or heterozygous mutation in GJB2 c.235 delC were 3 and 5 respectively, 2 cases were found to carry the SLC26A4 c.IVS7-2A>G homozygous mutation while other 2 cases, to carry the SLC26A4 c.IVS7-2A>G heterozygous mutation.Conclusion The hearing diagnosis for referred infants should be combined with objective examinations such as ABR, ASSR, DPOAE, acoustic immittance and combined with imaging evaluation and gene detection. The two diagnoses can improve the diagnosis rate and intervention rate of congenital hearing impairment. referred infants should be followed up.
引文
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[3]Wood SA,Sutton GJ,Davis AC.Performance and characteristics of the Newborn Hearing Screening Programme in England:The first seven years[J].International Journal of Audiology,2015,54(6):353.
[4]Vos B,Senterre C,Lagasse R,et al.Newborn hearing screening programme in Belgium:a consensus recommendation on risk factors[J].Bmc Pediatrics,2015,15(1):160-160.
[5]Basu S,Evans KL,Owen M,et al.Outcome of Newborn Hearing Screening Programme delivered by health visitors[J].Child Care Health&Development,2010,34(5):642-647.
[6]Ghirri P,Liumbruno A,Lunardi S,et al.Universal neonatal audiological screening:experience of the University Hospital of Pisa[J].Italian Journal of Pediatrics,2011,37(1):16.
[7]史伟,兰兰,韩明鲲,等.350例婴幼儿多种客观听力测试方法联合诊断听力损失的临床意义[J].听力学及言语疾病杂志,2008,16(5):379-382.
[8]林少莲,叶胜难,林有辉,等.1667例听力筛查转诊婴幼儿听力学诊断结果分析[J].听力学及言语疾病杂志,2013,21(3):225-227.
[9]Rafidah KN,Affizal A.Anxiety of the mothers with referred baby during Universal Newborn Hearing Screening[J].International Journal of Pediatric Otorhinolaryngolo gy,2011,75(4):513-517.
[10]Yao GD,Shou-Xia LI,Chen DL,et al.Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns[J].Experimental&Therapeutic Medicine,2014,7(1):218-222.
[2]葛海静,章依文,刘秀梅,等.语言发育迟缓儿童中的听力问题探讨[J].中国儿童保健杂志,2013,21(1):79-82.
[3]Wood SA,Sutton GJ,Davis AC.Performance and characteristics of the Newborn Hearing Screening Programme in England:The first seven years[J].International Journal of Audiology,2015,54(6):353.
[4]Vos B,Senterre C,Lagasse R,et al.Newborn hearing screening programme in Belgium:a consensus recommendation on risk factors[J].Bmc Pediatrics,2015,15(1):160-160.
[5]Basu S,Evans KL,Owen M,et al.Outcome of Newborn Hearing Screening Programme delivered by health visitors[J].Child Care Health&Development,2010,34(5):642-647.
[6]Ghirri P,Liumbruno A,Lunardi S,et al.Universal neonatal audiological screening:experience of the University Hospital of Pisa[J].Italian Journal of Pediatrics,2011,37(1):16.
[7]史伟,兰兰,韩明鲲,等.350例婴幼儿多种客观听力测试方法联合诊断听力损失的临床意义[J].听力学及言语疾病杂志,2008,16(5):379-382.
[8]林少莲,叶胜难,林有辉,等.1667例听力筛查转诊婴幼儿听力学诊断结果分析[J].听力学及言语疾病杂志,2013,21(3):225-227.
[9]Rafidah KN,Affizal A.Anxiety of the mothers with referred baby during Universal Newborn Hearing Screening[J].International Journal of Pediatric Otorhinolaryngolo gy,2011,75(4):513-517.
[10]Yao GD,Shou-Xia LI,Chen DL,et al.Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns[J].Experimental&Therapeutic Medicine,2014,7(1):218-222.