Amaç: Hastanemiz odyoloji bilim dalına başvuran Treacher Collins Sendromlu (TCS) hastaların odyolojik bulgularını ve amplifikasyon kullanımlarını incelemektir. Gereç ve Yöntemler: Ocak 2013-Aralık 2023 tarihleri arasında Marmara Üniversitesi Tıp Fakültesi Odyoloji Bilim Dalı'na başvuran TCS tanılı hastaların, odyolojik değerlendirme sonuçları retrospektif olarak incelendi. Çalışmada, 0-18 yaş arası TCS tanısı alan 4'ü kadın, 9'u erkek olmak üzere 13 hasta dâhil edildi. Çalışmaya dâhil edilen hastaların işitsel beyinsapı yanıtları ile hastanın yaşına ve bilişsel durumuna göre uygulanmış olan davranım veya saf ses odyometrisi sonuçları incelendi. Bulgular: Hastaların ilk işitme kaybı tanısı konulduğundaki yaş ortalaması 21,30±20,36 aydır. Hastaların ilk işitme kaybı tanısı 9'unda işitsel beyinsapı yanıtları, 3'ünde davranım odyometrisi ve işitsel beyinsapı yanıtları, 1'inde ise saf ses odyometrisi uygulanarak konulmuştur. Hastalarımızın %84,62'sinin (11 birey) iletim tipi işitme kaybı, %7,69'unun (1 birey) mikst tip işitme kaybı ve kalan %7,69'unun (1 birey) ise sensörinöral tipte işitme kaybı olduğu görüldü. Hastalarımızın %38,46'sının bir amplifikasyon teknolojisinden yararlanmadığı, %7,69'unun geleneksel hava yolu işitme cihazı kullandığı ve %53,85'inin ise kemiğe implante işitme cihazı (KİİC) kullandığı belirlenmiştir. İşitsel amplifikasyondan yararlanan hastaların cihazlı saf ses ortalamaları 8 bireyde ortalama olarak 23,37±3,58 dB HL olarak elde edilmiştir. Sonuç: TCS'li çocuklarda sıklıkla iletim tipi işitme kaybı görülür ve kalıcıdır. İşitme kaybının çocuğun dil ve konuşma gelişimine olumsuz etkisini en aza indirmek için işitme kaybının erken tespit edilmesi ve işitsel amplifikasyonun erken dönemde sağlanması gerekmektedir. Bu çocuklarda işitsel amplifikasyon yöntemi olarak genellikle dış kulakta olan malformasyonlar nedeniyle geleneksel işitme cihazları uygulanamadığı için KİİC önerilmelidir. KİİC sistemleri TCS'li hastalar için oldukça uygun bir seçenektir.
Anahtar Kelimeler: İletim tipi işitme kaybı; mandibulofasiyal dizostozis; işitsel uyarılmış potansiyeller; saf ses odyometri
Objective: To examine the audiological findings and amplification use of Treacher Collins Syndrome (TCS) patients who applied to our hospital's audiology department. Material and Methods: Audiologic evaluation results of patients diagnosed with TCS who applied to the Audiology Department of Marmara University Faculty of Medicine between January 2013-December 2023 were retrospectively examined. The study included 13 patients, 4 female and 9 male, diagnosed with TCS, aged 0-18. The auditory brainstem responses of the patients included in the study and the behavioral or pure tone audiometry results applied according to the patient's age and cognitive status were examined. Results: The mean age of the patients when their first hearing loss was diagnosed was 21.30±20.36 months. The initial hearing loss diagnosis of the patients was made by auditory brainstem responses in 9 patients, behavioral audiometry and auditory brainstem responses in 3 patients, and pure tone audiometry in 1 patient. It was observed that 84.62% (11 individuals) of our patients had conductive hearing loss, 7.69% (1 individual) had a mixed type, and 7.69% (1 individual) had sensorineural type hearing loss. It was observed that 38.46% of our patients did not benefit from an amplification technology, 7.69% used traditional air-conduction hearing aids, and 53.85% used bone-anchored hearing aids (BAHA). The average pure tone with aids of the patients who benefited from auditory amplification was 23.37±3.58 dB HL in 8 patients. Conclusion: Conductive hearing loss is frequently seen in children with TCS and is permanent. To minimize the negative impact of hearing loss on the child's language and speech development, early detection of hearing loss and early auditory amplification are necessary. Since conventional hearing aids cannot be used as an auditory amplification method in these children due to malformations commonly in the outer ear, BAHA should be recommended. BAHA systems are a very suitable option for patients with TCS.
Keywords: Hearing loss conductive; mandibulofacial dysostosis; evoked potentials auditory; pure tone audiometry
- Mehl AL, Thomson V. The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening. Pediatrics. 2002;109(1):E7. [Crossref] [PubMed]
- Morton NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci. 1991;630:16-31. [Crossref] [PubMed]
- Grundfast KM, Atwood JL, Chuong D. Genetics and molecular biology of deafness. Otolaryngol Clin North Am. 1999;32(6):1067-88. [Crossref] [PubMed]
- Bayazit YA, Yilmaz M. An overview of hereditary hearing loss. ORL J Otorhinolaryngol Relat Spec. 2006;68(2):57-63. [PubMed]
- Martini A, Calzolari F, Sensi A. Genetic syndromes involving hearing. Int J Pediatr Otorhinolaryngol. 2009;73 Suppl 1:S2-12. [Crossref] [PubMed]
- Plomp RG, Bredero-Boelhouwer HH, Joosten KF, Wolvius EB, Hoeve HL, Poublon RM, et al. Obstructive sleep apnoea in Treacher Collins syndrome: prevalence, severity and cause. Int J Oral Maxillofac Surg. 2012;41(6):696-701. [PubMed]
- Soğukpınar A, Mutluay M. Treacher Collins Sendromu?nda dentofasiyal bulgular ve tedavi yaklaşımı [Dentofacial findings in Treacher Collins Syndrome and treatment approach]. Sakarya Tıp Dergisi. 2019;9(2):213-7. [Link]
- Rosa F, Coutinho MB, Ferreira JP, Sousa CA. Ear malformations, hearing loss and hearing rehabilitation in children with Treacher Collins syndrome. Acta Otorrinolaringol Esp. 2016;67(3):142-7. English, Spanish. [Crossref] [PubMed]
- Cobb AR, Green B, Gill D, Ayliffe P, Lloyd TW, Bulstrode N, et al. The surgical management of Treacher Collins syndrome. Br J Oral Maxillofac Surg. 2014;52(7):581-9. [PubMed]
- Sakallıoğlu Ö. Dış ve orta kulak malformasyonlarina yaklaşimda klasik ve yeni uygulamalar [Classic and new approaches to external and middle ear malformations]. Osmangazi Tıp Dergisi. 2018;40(1):101-9. [Crossref]
- Fan Y, Zhang Y, Wang S, Chen X. Auditory development after placement of bone-anchored hearing aids Softband among Chinese Mandarin-speaking children with bilateral aural atresia. Int J Pediatr Otorhinolaryngol. 2014;78(1):60-4. [Crossref] [PubMed]
- Stach BA, Ramachandran V. Clinical Audiology: An Introduction. 3rd ed. California: Plural Publishing; 2021.
- Thompson JT, Anderson PJ, David DJ. Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg. 2009;20(6):2028-35. [Crossref] [PubMed]
- Tjellström A, Håkansson B, Granström G. Bone-anchored hearing aids: current status in adults and children. Otolaryngol Clin North Am. 2001;34(2):337-64. [Crossref] [PubMed]
- Clark JG. Uses and abuses of hearing loss classification. ASHA. 1981;23(7):493-500. [PubMed]
- van Gijn DR, Tucker AS, Cobourne MT. Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. Br J Oral Maxillofac Surg. 2013;51(5):384-8. [Crossref] [PubMed]
- Plomp RG, van Lieshout MJS, Joosten KFM, Wolvius EB, van der Schroeff MP, Versnel SL, et al. Treacher Collins Syndrome: a systematic review of evidence-based treatment and recommendations. Plast Reconstr Surg. 2016;137(1):191-204. [Crossref] [PubMed]
- Carey JC, Cassidy SB, Battaglia A, Viskochil D. Treacher Collins syndrome and related disorders. Cassidy and Allanson?s Management of Genetic Syndromes. 4th ed.; 2021. p.927-35. [Crossref] [PubMed]
- Kantaputra PN, Tripuwabhrut K, Intachai W, Carlson BM, Quarto N, Ngamphiw C, et al. Treacher Collins syndrome: a novel TCOF1 mutation and monopodial stapes. Clin Otolaryngol. 2020;45(5):695-702. [Crossref] [PubMed]
- Chen Y, Guo L, Li CL, Shan J, Xu HS, Li JY, et al. Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations. Mol Genet Genomics. 2018;293(2):569-77. [Crossref] [PubMed]
- Fan X, Wang Y, Fan Y, Du H, Luo N, Zhang S, et al. TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect. Orphanet J Rare Dis. 2019;14(1):178. [Crossref] [PubMed] [PMC]
- Marinac I, Trotić R, Ko?ec A. Systematic review of current audiological treatment options for patients with Treacher Collins Syndrome (TCS) and surgical and audiological experiences of an otorhinolaryngologist with TCS. J Pers Med. 2024;14(1):81. [Crossref] [PubMed] [PMC]
- Pan Z, Xu H, Chen B, Tian Y, Zhang L, Zhang S, et al. Treacher Collins syndrome: clinical report and retrospective analysis of Chinese patients. Mol Genet Genomic Med. 2021;9(2):e1573. [Crossref] [PubMed] [PMC]
- Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, et al. Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. Eur J Hum Genet. 2004;12(11):879-90. [Crossref] [PubMed]
- Vincent M, Geneviève D, Ostertag A, Marlin S, Lacombe D, Martin-Coignard D, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016;18(1):49-56. Erratum in: Genet Med. 2015;17(8):686. Szaskon, Kateline [corrected to Szakszon, Kateline]. [Crossref] [PubMed]
- Hunter PD, Baker SS. The treatment of enophthalmos by orbital injection of fat autograft. Arch Otolaryngol Head Neck Surg. 1994;120(8):835-9. [Crossref] [PubMed]
- Kastenbauer S, Pfister HW. Pneumococcal meningitis in adults: spectrum of complications and prognostic factors in a series of 87 cases. Brain. 2003;126(Pt 5):1015-25. [Crossref] [PubMed]
- Wang YB, Chen XW, Wang P, Fan XM, Fan Y, Liu Q, et al. [Clinical diagnosis of Treacher Collins syndrome and the efficacy of using BAHA]. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017;31(8):577-582. Chinese. [PubMed]
- Marsella P, Scorpecci A, Pacifico C, Tieri L. Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls. Int J Pediatr Otorhinolaryngol. 2011;75(10):1308-12. [Crossref] [PubMed]
- Wazen JJ, Caruso M, Tjellstrom A. Long-term results with the titanium bone-anchored hearing aid: the U.S. experience. Am J Otol. 1998;19(6):737-41. [PubMed]
- Lustig LR, Arts HA, Brackmann DE, Francis HF, Molony T, Megerian CA, et al. Hearing rehabilitation using the BAHA bone-anchored hearing aid: results in 40 patients. Otol Neurotol. 2001;22(3):328-34. [Crossref] [PubMed]
- Chan KH, Gao D, Jensen EL, Allen GC, Cass SP. Complications and parent satisfaction in pediatric osseointegrated bone-conduction hearing implants. Laryngoscope. 2017;127(9):2165-70. [Crossref] [PubMed]
- Hylton JB, Leon-Salazar V, Anderson GC, De Felippe NL. Multidisciplinary treatment approach in Treacher Collins syndrome. J Dent Child (Chic). 2012;79(1):15-21. [PubMed]
- Yalçın ED, Koçak N. Brankial arklarla ilgili sendromlar [Syndromes related with branchial arches]. Turkiye Klinikleri Oral and Maxillofacial Radiology-Special Topics. 2018;4(3):55-60. [Link]
- Rovin S, Dachi SF, Borenstein DB, Cotter WB. Mandibulofacial dysostosis, a familial study of five generations. J Pediatr. 1964;65:215-21. [Crossref] [PubMed]
.: Process List