Evaluation of hearing and speech rehabilitation after cochlear implantation in children with Waardenburg syndrome
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摘要: 目的 通过比较Waardenburg综合征(WS)患儿与中国人群常见致聋基因( SLC26A4 、GJB2 )致病患儿的人工耳蜗植入术(CI)术后听觉与言语康复效果、WS患儿双侧CI与单侧CI的听觉与言语康复效果，为WS患儿临床植入人工耳蜗提供参考。方法 追踪回访2017—2019年经昆明市儿童医院确诊为重度或极重度感音神经性聋且明确基因突变类型的CI患儿72例，其中WS组24例，对照组( SLC26A4 致聋组和GJB2 致聋组)各24例。所有患儿于开机后12个月进行听觉与言语能力评估。结果 WS组与 SLC26A4 致聋组和GJB2 致聋组的助听听阈、各项言语识别能力评估正确识别率、IT-MAIS/MAIS得分率、CAP得分、SIR得分差异均无统计学意义(P>0.05)；WS组双侧CI患儿的IT-MAIS/MAIS得分率、SIR得分、自然环境声响识别、韵母识别、声调识别、单音节词识别、双音节词识别、短句识别的正确识别率显著高于单侧CI患儿，差异有统计学意义(P < 0.05)；WS组双侧CI患儿和单侧CI患儿的CAP得分、声母识别和三音节词识别的正确识别率之间的差异无统计学意义(P>0.05)。结论 WS患儿与中国人群常见致聋基因( SLC26A4 、GJB2 )致病患儿的CI术后听觉与言语康复效果相当，对于WS合并重度或极重度感音神经性聋的患儿，临床可行CI以改善其听觉及言语能力；WS患儿双侧CI较单侧CI术后在诸多听觉及言语能力方面有优势，故具备条件者，应鼓励双侧植入。
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关键词:
- Waardenburg综合征 /
- 耳蜗植入术 /
- 听觉与言语康复
Abstract: Objective By comparing the hearing and speech rehabilitation effects of cochlear implantation (CI) in children with Waardenburg syndrome (WS) and children with common deafness genes ( SLC26A4 , GJB2 ) in the Chinese population, and the hearing and speech rehabilitation effects of bilateral CI and unilateral CI in children with WS, to provide a reference for clinical CIin children with WS.Methods Follow up and return visit 72 pedestrian cochlear implant children with severe and above sensorineural hearing loss and clear gene mutation type diagnosed by Kunming Children's Hospital from 2017 to 2019, including 24 cases in the WS group, 24 cases in the control group ( SLC26A4 deafness group and GJB2 deafness group). All enrolled children were evaluated for auditory and speech ability 12 months after startup.Results The hearing aid threshold, the correct recognition rate of speech recognition ability evaluation, IT-MAIS / MAIS score rate, CAP score, SIR score, there was no significant difference(P>0.05). The correct recognition rates of IT-MAIS / MAIS score, SIR score, natural environment sound recognition, vowel recognition, tone recognition, monosyllabic word recognition, disyllabic word recognition and short sentence recognition in children with WS bilateral CI were significantly higher than those in children with WS unilateral CI (P < 0.05). There was no significant difference in CAP score, initial recognition and correct recognition rate of trisyllabic words between children with WS bilateral CI and children with WS unilateral CI (P>0.05).Conclusion Common deafness genes in children with WS and Chinese population ( SLC26A4 , GJB2 ) the effect of cochlear implantation on hearing and speech rehabilitation of sick children is equivalent. For children with severe and above sensorineural hearing loss associated with this syndrome, CI can be used clinically to improve their hearing and speech ability. WS bilateral CI has advantages in some hearing and speech abilities compared with unilateral CI, so those whomeet the conditions should be encouraged bilateral implantation. -
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表 1 3组言语识别能力评估正确识别率比较
%，X±S 组别 例数 自然环境声响识别 韵母识别 声母识别 声调识别 单音节词识别 双音节词识别 三音节词识别 短句识别 WS组 19 69.47± 9.26 69.58± 8.07 69.26± 7.31 65.96± 8.13 72.66± 6.88 75.54± 10.47 70.53± 10.52 72.11± 10.97 SLC26A4致聋组 19 67.11± 8.71 66.95± 8.60 66.63± 8.59 69.72± 10.34 70.68± 10.94 71.40± 11.83 73.26± 9.98 73.68± 10.91 GJB2致聋组 19 73.16± 10.45 71.68± 8.95 70.95± 9.03 69.68± 10.93 69.92± 7.76 71.83± 11.59 76.42± 8.73 69.47± 9.56 
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表 2 3组患儿IT-MAIS/MAIS得分率及CAP、SIR得分比较
X±S 组别 例数 IT-MAIS/MAIS/% CAP/分 SIR/分 WS组 24 80.73±3.50 4.92±0.58 3.71±0.69 SLC26A4致聋组 24 79.48±2.76 5.00±0.68 3.79±0.41 GJB2致聋组 24 79.17±2.51 4.63±0.65 3.75±0.44
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表 3 WS组双侧CI和单侧CI的IT-MAIS/MAIS得分率及CAP、SIR得分比较
X±S 侧别 例数 IT-MAIS/MAIS/% CAP/分 SIR/分 双侧 12 82.50±2.82 5.08±0.51 4.00±0.60 单侧 12 78.96±3.28 4.75±0.62 3.42±0.67 P值 0.010 0.167 0.035
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表 4 WS组双侧CI和单侧CI言语识别能力评估正确识别率比较
%，X±S 侧别 例数 自然环境声响识别 韵母识别 声母识别 声调识别 单音节词识别 双音节词识别 三音节词识别 短句识别 双侧 10 74.00± 8.10 73.20± 5.98 72.00± 6.53 69.67± 7.78 75.82± 3.55 80.67± 4.39 74.40± 10.53 77.00± 8.88 单侧 9 64.44± 8.08 65.56± 8.47 66.22± 7.24 61.85± 6.69 69.15± 8.12 69.85± 12.47 66.22± 9.19 66.67± 10.90 P值 0.020 0.035 0.085 0.032 0.030 0.020 0.091 0.036
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