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Genetic sensorineural hearing loss in childhood

Year 2002, Volume: 9 Issue: 2, 99 - 105, 12.03.2002

Abstract

Objectives: This study aimed to determine the severity, age of presentation, and genetic etiology in hearing handicapped children.Patients and Methods: Three groups of children were studied: children who received treatment for hearing loss at the Otolaryngology Department of Ege University Hospital between 1993 and 1999 1645 children and throughout2000 212 children , and 443 students of İzmir Tülay Aktaş Deaf School during 1998 and 1999. Ali the children underwent otolaryn- gologic examination and a detailed history taking, audiometric examinations were undertaken in the second and third groups, as well. İn children suspect- ed of having a genetic etiology, the pedigrees were drawn and the mode of inheritance was determined.Results: İn the first group, awareness of the families to hearing loss and the presentation were at ages two and four, respectively. The most common accompa- nying anomaly was Down syndrome. Consanguinity was found in 27%, 8%, and 33%, respectively.Moderate to severe hearing loss was detected in 44% of the second group, and in 28% of the third group. Of the pedigrees obtained from 123 families, 86 were nonsyndromic and 27 were syndromic.Conclusion: Genetic inheritance plays a substantial role in sensorineural hearing loss in children, with consanguinity being the majör culprit. Detection of hearing losses at younger ages will improve the success of hearing rehabilitation programs.

References

  • Morton NE. Genetic epidemiology of hearing impair- ment. Ann N Y Acad Sci 1991;630:16-31.
  • Reardon W. Genetic deafness. J Med Genet 1992;29: 521-6.
  • Chan KH. Sensorineural hearing loss in childre n . Classification and evaluation. Otolaryngol Clin North Am 1994;27:473-86.
  • Billings KR, Kenna MA. Causes of pediatric sen- sorineural hearing loss: yesterday and today. Arch Otolaryngol Head Neck Surg 1999;125:517-21.
  • Lee KJ. Essential otolaryngology. 7th ed. Philadelphia: Appleton-Lange; 1998.
  • Fraser GR. The genetics of deafness. In: Adams AD, Cinnamond MJ, Gen Ed, Kerr AG, editors. Scott-Bro w n ’ s o t o l a r y n g o l o g y. Vol. 6, 6th ed. Oxford: Butterworth- Heinemann; 1997. p. (3):1-20.
  • Mhatre AN, Lalwani AK. Molecular genetics of deaf- ness. Otolaryngol Clin North Am 1996;29:421-35.
  • Connar M, Malcolm F (editors). Essential medical genetics, 5th ed. Oxford: Blackwell Science; 1997.
  • Fraser GR. Sex-linked recessive congenital deafness and the excess of males in profound childhood deaf- ness. Ann Hum Genet 1965;29:171-96.
  • McKusick VA. Mendelian inheritance in man. 10th ed. Baltimore: Johns Hopkins University Press; 1992.
  • Wallace DC. Mitochondrial diseases: genotype versus phenotype. Trends Genet 1993;9:128-33.
  • Walch C, Anderhuber W, Kole W, Berghold A. Bilateral sensorineural hearing disorders in children: etiology of deafness and evaluation of hearing tests. Int J Pediatr Otorhinolaryngol 2000;53:31-8.
  • Stewart IF. After early identification-what follows? A study of some aspects of deaf education from an oto- laryngological viewpoint. Laryngoscope 1984;94:784-99.
  • Maurizi M, Ottaviani F, Paludetti G, Lungarotti S. Audiological findings in Down’s children. Int J Pediatr Otorhinolaryngol 1985;9:227-32.
  • Roizen NJ, Wolters C, Nicol T, Blondis TA. Hearing loss in children with Down syndrome. J Pediatr 1993; 123:S9-12.
  • Janzen VD, Schaefer D. Etiology of deafness in Robarts School for the Deaf. J Otolaryngol 1984;13:47-8.
  • B e r rettini S, Ravecca F, Sellari-Franceschini S, Matteucci F, Siciliano G, Ursino F. Progressive sen- sorineural hearing loss in childhood. Pediatr Neurol 1999;20:130-6.
  • Tamayo ML, Bernal JE, Tamayo GE, Frias JL. Study of the etiology of deafness in an institutionalized popula- tion in Colombia. Am J Med Genet 1992;44:405-8.
  • van Rijn PM, Cremers CW. Causes of childhood deaf- ness at a Dutch school for the hearing impaired. Ann Otol Rhinol Laryngol 1991;100:903-8.
  • Topuz B, Ardıç N, Karaca C, Bayramoğlu İ, Erçoban S, Katırcıoğlu O. Türkiye’de çocukluk çağı iflitme kaybı yapan nedenlerin bölgelere göre karflılafltırılması. In: 23. Ulusal ORL ve Bafl Boyun Cerrahisi Tutanakları Ki- tabı; 30 Eylül-4 Ekim 1995; Antalya, Türkiye.
  • Apaydın F, Leal MS, Kandoğan T, Brandle U, Cura O, Zenner HP. Nonsendromik genetik iflitme kaybı. Türk ORL Arflivi 1995; 33:151-4.
  • Erpek G, Çekkayan S. Malatya Sağırlar Okulu’nda ya- pılan etyolojiye yönelik bir çalıflma. Türk ORL Arflivi 1994;32:255-6.
  • Kılıç MA. Kahramanmarafl Sağırlar Okulu’nda oku- yan çocuklarda iflitme kaybı nedenleri. Türk ORL Ar- flivi 1994;32:154-6.
  • Ökten A, Mocan H, Gedik Y, Telatar M, Candan S. Ri- ze Sağırlar Okulu’nda okuyan 116 çocuğun incelenme- si. Türk ORL Arflivi 1991;29:137-9.
  • Dereköy FS. Etiology of deafness in Afyon school for the deaf in Turkey. Int J Pediatr Otorhinolaryngol 2000; 55:125-31.
  • Tuncbilek E, Koc I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 1994;58 (Pt 4):321-9.
  • Feinmesser M, Tell L, Levi H. Etiology of childhood deafness with reference to the group of unknown cause. Audiology 1986;25:65-9.
  • Gray RF. Causes of deafness in schools for the deaf in Madras. Int J Pediatr Otorhinolaryngol 1989;18:97-106.
  • Osma Ü, Tekin M, Meriç F, Topçu İ. Diyarbakır Sağırlar Okulu öğrencilerinde iflitme kayıplarının incelenmesi. In: 24. Ulusal Türk Otorinolarengoloji ve Bafl-Boyun Cerrahisi Kongresi Tutanakları; 23-27 Eylül 1997; Antalya, Türkiye.
  • G rundfast KM, Lalwani AK. Practical approach to diag- nosis and management of hereditary hearing impair- ment (HHI). Ear Nose Throat J 1992;71:479-84, 487-93.
  • Pfister MH, Apaydın F, Turan O, Bereketoğlu M, Bilgen V, Braendle U, et al. A second family with non- syndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD. Genomics 1998;53:377-82.
  • Pfister MH, Apaydın F, Turan O, Bereketoğlu M, Bilgen V, Braendle U, et al. Clinical evidence for dys- trophin dysfunction as a cause of hearing loss in locus DFN4. Laryngoscope 1999;109:730-5.
  • Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 1999;21:363-9.

Çocukluk çağı genetik sensorinöral işitme kayıpları

Year 2002, Volume: 9 Issue: 2, 99 - 105, 12.03.2002

Abstract

Amaç: İflitme engelli çocuklarda iflitme kaybının derecesi, fark edilme yaflı ve iflitme kayıplarındaki genetik etyoloji arafltırıldı.Hastalar ve Yöntemler: Bu çalıflmada üç grup incelendi: Ege Üniversitesi Tıp Fakültesi KBB AnabilimDalı’na, iflitme kaybı kuflkusu ile 1993-1999 yıllarıarasında baflvuran 1645 çocuk, 2000 yılı içinde baflvuran 212 çocuk ve İzmir Tülay Aktafl İflitme Engelliler Okulu’nda 1998-1999 döneminde eğitim-öğretim gören öğrenciler. Tüm çocuklarda KBB muayenesi ve detaylı anamnez alımı gerçeklefltirildi. İkincive üçüncü gruptaki olguların iflitme düzeyleri odyometrik ve elektrofizyolojik testlerle belirlendi. Genetikgeçifle bağlı iflitme kaybı düflünülen hastaların soyağaçları çizildi ve kalıtım tipi belirlendi. Bu l g u l a r : Birinci grupta iflitme kaybının fark edildiğiyafl iki, baflvuru yaflı dört bulundu. İflitme kaybına efllik eden en sık anomali Down sendromunu idi. Ailelerdeki akraba evliliği oranı birinci grupta %27, ikincigrupta %8, üçüncü grupta %33 bulundu. İkinci gruptaki çocukların %44’ünde, üçüncü gruptaki çocukların%28’inde orta-ileri derecede iflitme kaybı saptandı.Soyağacı çizilen 123 ailenin 86’sında nonsendromik,2 7 ’sinde sendromik kalıtım flekli gözlendi.Sonuç: Çocukluk çağı sensorinöral tip iflitme kayıplarının çoğunda genetik geçifl rol oynamakta, bununen önemli nedenini akraba evliliği oluflturmaktadır.İflitme kayıplı çocukların erken yafllarda saptanması,iflitme rehabilitasyonunun baflarısını artıracaktır

References

  • Morton NE. Genetic epidemiology of hearing impair- ment. Ann N Y Acad Sci 1991;630:16-31.
  • Reardon W. Genetic deafness. J Med Genet 1992;29: 521-6.
  • Chan KH. Sensorineural hearing loss in childre n . Classification and evaluation. Otolaryngol Clin North Am 1994;27:473-86.
  • Billings KR, Kenna MA. Causes of pediatric sen- sorineural hearing loss: yesterday and today. Arch Otolaryngol Head Neck Surg 1999;125:517-21.
  • Lee KJ. Essential otolaryngology. 7th ed. Philadelphia: Appleton-Lange; 1998.
  • Fraser GR. The genetics of deafness. In: Adams AD, Cinnamond MJ, Gen Ed, Kerr AG, editors. Scott-Bro w n ’ s o t o l a r y n g o l o g y. Vol. 6, 6th ed. Oxford: Butterworth- Heinemann; 1997. p. (3):1-20.
  • Mhatre AN, Lalwani AK. Molecular genetics of deaf- ness. Otolaryngol Clin North Am 1996;29:421-35.
  • Connar M, Malcolm F (editors). Essential medical genetics, 5th ed. Oxford: Blackwell Science; 1997.
  • Fraser GR. Sex-linked recessive congenital deafness and the excess of males in profound childhood deaf- ness. Ann Hum Genet 1965;29:171-96.
  • McKusick VA. Mendelian inheritance in man. 10th ed. Baltimore: Johns Hopkins University Press; 1992.
  • Wallace DC. Mitochondrial diseases: genotype versus phenotype. Trends Genet 1993;9:128-33.
  • Walch C, Anderhuber W, Kole W, Berghold A. Bilateral sensorineural hearing disorders in children: etiology of deafness and evaluation of hearing tests. Int J Pediatr Otorhinolaryngol 2000;53:31-8.
  • Stewart IF. After early identification-what follows? A study of some aspects of deaf education from an oto- laryngological viewpoint. Laryngoscope 1984;94:784-99.
  • Maurizi M, Ottaviani F, Paludetti G, Lungarotti S. Audiological findings in Down’s children. Int J Pediatr Otorhinolaryngol 1985;9:227-32.
  • Roizen NJ, Wolters C, Nicol T, Blondis TA. Hearing loss in children with Down syndrome. J Pediatr 1993; 123:S9-12.
  • Janzen VD, Schaefer D. Etiology of deafness in Robarts School for the Deaf. J Otolaryngol 1984;13:47-8.
  • B e r rettini S, Ravecca F, Sellari-Franceschini S, Matteucci F, Siciliano G, Ursino F. Progressive sen- sorineural hearing loss in childhood. Pediatr Neurol 1999;20:130-6.
  • Tamayo ML, Bernal JE, Tamayo GE, Frias JL. Study of the etiology of deafness in an institutionalized popula- tion in Colombia. Am J Med Genet 1992;44:405-8.
  • van Rijn PM, Cremers CW. Causes of childhood deaf- ness at a Dutch school for the hearing impaired. Ann Otol Rhinol Laryngol 1991;100:903-8.
  • Topuz B, Ardıç N, Karaca C, Bayramoğlu İ, Erçoban S, Katırcıoğlu O. Türkiye’de çocukluk çağı iflitme kaybı yapan nedenlerin bölgelere göre karflılafltırılması. In: 23. Ulusal ORL ve Bafl Boyun Cerrahisi Tutanakları Ki- tabı; 30 Eylül-4 Ekim 1995; Antalya, Türkiye.
  • Apaydın F, Leal MS, Kandoğan T, Brandle U, Cura O, Zenner HP. Nonsendromik genetik iflitme kaybı. Türk ORL Arflivi 1995; 33:151-4.
  • Erpek G, Çekkayan S. Malatya Sağırlar Okulu’nda ya- pılan etyolojiye yönelik bir çalıflma. Türk ORL Arflivi 1994;32:255-6.
  • Kılıç MA. Kahramanmarafl Sağırlar Okulu’nda oku- yan çocuklarda iflitme kaybı nedenleri. Türk ORL Ar- flivi 1994;32:154-6.
  • Ökten A, Mocan H, Gedik Y, Telatar M, Candan S. Ri- ze Sağırlar Okulu’nda okuyan 116 çocuğun incelenme- si. Türk ORL Arflivi 1991;29:137-9.
  • Dereköy FS. Etiology of deafness in Afyon school for the deaf in Turkey. Int J Pediatr Otorhinolaryngol 2000; 55:125-31.
  • Tuncbilek E, Koc I. Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 1994;58 (Pt 4):321-9.
  • Feinmesser M, Tell L, Levi H. Etiology of childhood deafness with reference to the group of unknown cause. Audiology 1986;25:65-9.
  • Gray RF. Causes of deafness in schools for the deaf in Madras. Int J Pediatr Otorhinolaryngol 1989;18:97-106.
  • Osma Ü, Tekin M, Meriç F, Topçu İ. Diyarbakır Sağırlar Okulu öğrencilerinde iflitme kayıplarının incelenmesi. In: 24. Ulusal Türk Otorinolarengoloji ve Bafl-Boyun Cerrahisi Kongresi Tutanakları; 23-27 Eylül 1997; Antalya, Türkiye.
  • G rundfast KM, Lalwani AK. Practical approach to diag- nosis and management of hereditary hearing impair- ment (HHI). Ear Nose Throat J 1992;71:479-84, 487-93.
  • Pfister MH, Apaydın F, Turan O, Bereketoğlu M, Bilgen V, Braendle U, et al. A second family with non- syndromic sensorineural hearing loss linked to Xp21.2: refinement of the DFN4 locus within DMD. Genomics 1998;53:377-82.
  • Pfister MH, Apaydın F, Turan O, Bereketoğlu M, Bilgen V, Braendle U, et al. Clinical evidence for dys- trophin dysfunction as a cause of hearing loss in locus DFN4. Laryngoscope 1999;109:730-5.
  • Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 1999;21:363-9.
There are 33 citations in total.

Details

Primary Language Turkish
Journal Section Research Article
Authors

Fazıl Apaydın This is me

Onur Turan This is me

Publication Date March 12, 2002
Published in Issue Year 2002 Volume: 9 Issue: 2

Cite

APA Apaydın, F., & Turan, O. (2002). Çocukluk çağı genetik sensorinöral işitme kayıpları. The Turkish Journal of Ear Nose and Throat, 9(2), 99-105.
AMA Apaydın F, Turan O. Çocukluk çağı genetik sensorinöral işitme kayıpları. Tr-ENT. March 2002;9(2):99-105.
Chicago Apaydın, Fazıl, and Onur Turan. “Çocukluk çağı Genetik sensorinöral işitme kayıpları”. The Turkish Journal of Ear Nose and Throat 9, no. 2 (March 2002): 99-105.
EndNote Apaydın F, Turan O (March 1, 2002) Çocukluk çağı genetik sensorinöral işitme kayıpları. The Turkish Journal of Ear Nose and Throat 9 2 99–105.
IEEE F. Apaydın and O. Turan, “Çocukluk çağı genetik sensorinöral işitme kayıpları”, Tr-ENT, vol. 9, no. 2, pp. 99–105, 2002.
ISNAD Apaydın, Fazıl - Turan, Onur. “Çocukluk çağı Genetik sensorinöral işitme kayıpları”. The Turkish Journal of Ear Nose and Throat 9/2 (March 2002), 99-105.
JAMA Apaydın F, Turan O. Çocukluk çağı genetik sensorinöral işitme kayıpları. Tr-ENT. 2002;9:99–105.
MLA Apaydın, Fazıl and Onur Turan. “Çocukluk çağı Genetik sensorinöral işitme kayıpları”. The Turkish Journal of Ear Nose and Throat, vol. 9, no. 2, 2002, pp. 99-105.
Vancouver Apaydın F, Turan O. Çocukluk çağı genetik sensorinöral işitme kayıpları. Tr-ENT. 2002;9(2):99-105.