Treacher Collins综合征的临床诊断与BAHA听力干预疗效分析

王艺贝; 陈晓巍; 王璞; 范欣淼; 樊悦; 刘强; 高志强

doi:10.13201/j.issn.1001-1781.2017.08.002

Treacher Collins综合征的临床诊断与BAHA听力干预疗效分析

- 1 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(北京, 100730)
基金项目:
国家重点研发计划 (No:2016YFC0901501)

详细信息

通讯作者: 陈晓巍,E-mail:chenxw_pumch@163.com

中图分类号: R764.43

收稿日期: 2017-02-14

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

- Department of Otorhinolaryngology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China

More Information

Corresponding author: CHEN Xiaowei, E-mail: chenxw_pumch@163.com

Received Date: 14 February 2017

摘要

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25 dBnHL,气导阈值均大于45 dBnHL。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15 dBHL。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。
- Treacher Collins综合征 /
- 软带BAHA /
- 植入BAHA
Abstract: 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 stem 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 diagnosed as TCS by the clinical manifestations and genetic testing, BAHA system could help to rehabilitate the hearing to a normal condition.
- Treacher Collins syndrome /
- softband BAHA /
- impanted BAHA

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参考文献(16)

[1]	FRANCESCHETTI A, KLEIN D. The mandibulofacial dysostosis; a new hereditary syndrome[J]. Acta Ophthalmol (Copenh),1949,27:143-224.
[2]	[No authors listed]. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group[J]. Nat Genet,1996,12:130-136.
[3]	VINCENT M, GENEVIEVE D, OSTERTAG A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients[J]. Genet Med,2016, 18:49-56.
[4]	TEBER O A, GILLESSEN-KAESBACH G, FISCHER S, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation[J]. Eur J Hum Genet,2004,12:879-890.
[5]	SIEGERT R, MATTHEIS S, KASIC J. Fully implantable hearing aids in patients with congenital auricular atresia[J]. Laryngoscope, 2007,117:336-340.
[6]	王艺贝,陈晓巍,樊悦,等,双侧先天性小耳畸形并外耳道闭锁婴幼儿软带Ponto疗效初步分析[J]. 临床耳鼻咽喉头颈外科杂志,2015,29(4):291-294.
[7]	DIMITRIADIS P A, CARRICK S, RAY J.Intermediate outcomes of a transcutaneous bone conduction hearing device in a paediatric population[J].Int J Pediatr Otorhinolaryngol,2017,94:59-63.
[8]	王璞,陈晓巍,范鑫淼,等. Treacher Collins综合征的研究进展[J]. 临床耳鼻咽喉头颈外科杂志,2016,30(4):333-338.
[9]	ZHENG Y, SOLI S D, WANG K, et al.A normative study of early prelingual auditory development[J].Audiol Neurootol, 2009,14:214-222.
[10]	ZHANG X, FAN Y, ZHANG Y,et al.A novel mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome[J]. Int J Pediatr Otorhinolaryngol, 2013,77:1410-1415.
[11]	HERLIN C, DOUCET J C, BIGORRE M, et al. Computer-assisted midface reconstruction in Treacher Collins syndrome part 2: soft tissue reconstruction[J].J Craniomaxillofac Surg,2013,41:676-680.
[12]	KESSER B W, KROOK K, GRAY L C. Impact of unilateral conductive hearing loss due to aural atresia on academic performance in children[J]. Laryngoscope,2013, 123:2270-2275.
[13]	FAN Y, ZHANG Y, WANG S,et al. Auditory development after placement of bone-anchored hearing aids Softband among Chinese Mandarin-speaking children with bilateral aural atresia[J]. Int J Pediatr Otorhinolaryngol, 2014, 78:60-64.
[14]	ROSA F, COUTINHO M B, FERREIRA J P, et al. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome[J]. Acta Otorrinolaringol Esp,2016,67:142-147.
[15]	OLIVEIRA A K, FERRO L P, DA S J, et al. Results of the implantation of bone-anchored hearing aids in patients with treacher-collins syndrome[J]. Int Arch Otorhinolaryngol,2013,17:222-226.
[16]	樊悦,张颖,王珍,等. 骨锚式助听器术后皮肤并发症的处理及预防[J]. 中华耳鼻咽喉头颈外科杂志,2013,48(10):798-801.