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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 investigate the clinical diagnosis of Treacher Collins syndrome (TCS) and the curative effect of wearing soft belt and implanting BAHA. Methods: 6 cases of TCS patients, the threshold value of auditory brainstem response (ABR) test bone conduction were less than 25dBnHL, air conduction threshold were greater than 45dBnHL. Teber deformity score and pathogenic gene test. For children under 2 years of age, the Chinese version of the Meaningful Intelligibility Assessment Scale for Infants and Toddlers (IT-MAIS) was used to evaluate the auditory development at 3 months and 6 months after wearing it. For children aged 2 to 6 years, The auditory thresholds were measured and compared with bare ears and BAHA after behavioral audiometry. The auditory threshold and speech recognition rate were evaluated and compared between bare ears and those with BAHA under sound field. Results: The average score of Teber deformity score was (14.0 ± 0.6) points. TCOF1 gene mutation was detected in 2 cases. ABR bone conduction threshold average (18.0 ± 4.5) dBnHL, air conduction response threshold average (70.5 ± 7.0) dBnHL. The IT-MAIS questionnaire was used to evaluate the IT-MAIS questionnaire in 2 children younger than 2 years old. The auditory development was below normal level. The IT-MAIS score was significantly increased at 3 months and 6 months after wearing BAHA, and gradually approached the normal level. The hearing thresholds of the bare ears and the soft BAHA soundfield were (65.8 ± 3.8) dBHL and (30.0 ± 3.2) dBHL, respectively (P <0.01). The hearing threshold of one patient wearing BAHA was 15dBHL. The speech recognition rates of the unaided ears and the soft-band BAHA syllabic in three patients older than 6 years old were (31.7 ± 3.5)% and (86.0 ± 1.7)%, respectively (P <0.05), of which 1 was marked with BAHA Is 96%. CONCLUSIONS: TCS patients can rely on clinical phenotypes and genetic tests for diagnosis. BAHA can improve the hearing and speech recognition rate in patients with TCS. Early wearing BAHA can promote the hearing development in patients with TCS.