Treacher Collins综合征的临床诊断与BAHA听力干预疗效分析

发布时间：2018-04-17 17:22

  本文选题：Treacher + Collins综合征　； 参考：《临床耳鼻咽喉头颈外科杂志》2017年08期

【摘要】：目的:探讨Treacher Collins综合征(TCS)临床诊断方法及佩戴软带和植入BAHA的疗效。方法:TCS患者6例,听性脑干反应(ABR)测试骨导阈值均小于25dBnHL,气导阈值均大于45dBnHL。对其行Teber畸形评分及致病基因检测。对于2岁以下患儿,应用中文版婴幼儿有意义听觉整合量表(IT-MAIS)评估其佩戴当日、佩戴3个月及6个月后的听觉发育情况;对于2~6岁患儿,通过行为测听测量并比较患者裸耳及佩戴BAHA后的听阈;对于6岁以上患者,在声场下评估并比较裸耳及佩戴BAHA后的听阈及言语识别率。结果:Teber畸形评分平均值为(14.0±0.6)分,其中2例患者送检均有TCOF1基因突变。ABR骨导反应阈平均值为(18.0±4.5)dBnHL,气导反应阈平均值为(70.5±7.0)dBnHL。2例小于2岁患儿行IT-MAIS问卷评估,其听觉发育均低于正常水平,佩戴软带BAHA 3个月及6个月后IT-MAIS评分显著提高,且逐渐接近正常水平。6例患者裸耳和佩戴软带BAHA声场测听听阈分别为(65.8±3.8)dBHL和(30.0±3.2)dBHL(P0.01),其中1例佩戴植入BAHA后听阈为15dBHL。3例大于6岁患者裸耳及佩戴软带BAHA双音节言语识别率分别为(31.7±3.5)%和(86.0±1.7)%(P0.05),其中1例佩戴植入BAHA后言语识别率为96%。结论:TCS患者可以依靠临床表型及基因检测进行诊断,BAHA可提高TCS患者听力及言语识别率,早期佩戴软带BAHA可促进TCS患者听觉发育。
[Abstract]:Objective: to investigate the clinical diagnosis of Treacher Collins syndrome and the effect of wearing soft band and BAHA implantation.Methods in 6 patients with TCS, auditory brainstem response (ABR) test showed that the bone conductance threshold was less than 25dBnHLand the air-conduction threshold was higher than 45dBnHL.Teber malformation score and pathogenicity gene were detected.For children under 2 years of age, the hearing development of children under 2 years of age was evaluated by using the meaningful auditory Integration scale (IT-MAISL) of the Chinese version, and the hearing development of the children aged 2 to 6 years was evaluated on the same day, 3 months and 6 months after wearing.The threshold of bare ear and BAHA were measured and compared by behavioral audiometry, and the hearing threshold and speech recognition rate of bare ear and BAHA were evaluated and compared under the sound field for patients over 6 years old.Results the average score of TCOF1 malformation score was 14.0 卤0.6). The mean value of TCOF1 gene mutation and bone conductance response threshold was 18.0 卤4.5 dBnHL. the mean of air-conduction response threshold was 70.5 卤7.0)dBnHL.2, and the IT-MAIS questionnaire was performed in all patients. The auditory development was lower than normal level.After 3 and 6 months of wearing soft band BAHA, the IT-MAIS score was significantly improved.The hearing threshold of bare ear and soft band BAHA were 65.8 卤3.8)dBHL and 30.0 卤3.2dBHLP0.01g respectively, and the threshold after BAHA implantation in 1 case was 15dBHL.3 higher than that in 6 years old patients with bare ear and soft band BAHA.It was 31.7 卤3.5% and 86.0 卤1.7%, respectively. The speech recognition rate of one case after BAHA implantation was 96. 05%.Conclusion the clinical phenotype and gene detection can improve the hearing and speech recognition rate of TCS patients. Early wearing soft band BAHA can promote the auditory development of TCS patients.
【作者单位】： 中国医学科学院北京协和医学院北京协和医院耳鼻咽喉科;
【基金】：国家重点研发计划(No:2016YFC0901501)
【分类号】：R764;R596
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本文编号：1764531