Treacher Collins综合征的临床诊断与BAHA听力干预疗效分析

Clinical diagnosis of Treacher Collins syndrome and the efficacy of using BAHA

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(P<0.01),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)%(P<0.05),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。

Objective：To evaluate the efficacy of soft or implanted BAHA in the patients of Treacher Collins syndrome（TCS）. Method：Six patients of TCS were studied. The Teber scoring system was used to evaluate the deformity degree. The air and bone auditory thresholds were assessed by auditory brain stern response（ABR）. The infant-toddler meaningful auditory integration scale（IT-MAIS） was used to assess the auditory development at three time levels： baseline, 3 months and 6 months. The hearing threshold and speech recognition score were measured under unaided and aided conditions. Result：The average score of deformity degree was 14.0±0.6. The TCOF1 gene was tested in two patients. The bone conduction hearing thresholds of patients was （18.0 ± 4. 5） dBnHL and the air conduction hearing thresholds was （70.5 ± 7.0）dBnHL. The IT-MAIS total, detection and perception scores were improved significantly after wearing softband BAHA and approached the normal level in the 2 patients under 2 years old. The hearing thresholds of 6 patients in unaided and softband BAHA conditions were （65.8±3.8）dBHL and （30.0±3.2）dBHL （P〈0.01） respectively, and 1 implanted BAHA was 15 dBHL. The speech recognition scores of 3 patients in unaided and softband BAHA conditions were （31.7±3.5） % and（86.0±1.7） % （P〈0.05） respectively, and 1 implanted BAHA was 96 %. Conclusion： Whenever the patient was diag- nosed as TCS by the clinical manifestations and genetic testing, BAHA system could help to rehabilitate the hear- ing to a normal condition.