Auditory nerve anomalies in children with CHARGE syndrome
Abstract
CHARGE syndrome is a rare genetic disorder characterized by a combination of birth defects. In CHARGE syndrome, auditory nerve (CH) abnormalities are most common. The state of HF is important for candidates for cochlear implantation (CI). The decision to have a CT scan is difficult due to the presence of inner ear abnormalities, developmental delay, and severe concomitant pathology, which may affect further rehabilitation. The aim of this work is to analyze the literature on the results of hearing and speech rehabilitation after CI for HF abnormalities in patients with CHARGE syndrome and to present two of our own clinical observations of children with CHARGE syndrome who underwent CI. Based on literature data and our own clinical observations, it has been shown that the detection of HF hypo-/aplasia cannot be an absolute contraindication to CI, since CI has brought certain benefits to children who participated in the studies. The results of rehabilitation ranged significantly from a simple improvement in communication with the outside world, the appearance of the ability to distinguish environmental sounds to mastering oral speech. According to their own observations, both children have a reaction to sounds, one responds to a name, understands simple phrases, the second uses sounds and syllables in communication, but mostly uses gestures in everyday life. Children with CHARGE syndrome require the supervision of a multidisciplinary team of specialists. Raising awareness among doctors about the importance of early detection of hearing disorders in children with CHARGE syndrome and the possibilities of early auditory rehabilitation of children is an urgent task.
About the Authors
T. G. Markova
Saint Petersburg Research Institute of Ear, Throat, Nose and Speech;
Sverzhevsky Scientific Research Clinical Institute of Otorhinolaryngology;
Russian Medical Academy of Continuous Professional Education
Russian Federation
Russian Federation
Tatiana G. Markova, Dr. Sci. (Med.), Leading Researcher of the Department of Diagnostics and Rehabilitation of Hearing Impairments, Saint Petersburg Research Institute of Ear, Throat, Nose and Speech; Leading Researcher, Sverzhevsky Scientific Research Clinical Institute of Otorhinolaryngology; Professor of the Department of Surdology, Russian Medical Academy of Continuous Professional Education
9, Bronnitskaya St., St Petersburg, 190013,
18a, Bldg. 2, Zagorodnoe Shosse, Moscow, 117152,
2/1, Bldg. 1, Barrikadnaya St., Moscow, 125993
S. B. Sugarova
Saint Petersburg Research Institute of Ear, Throat, Nose and Speech
Russian Federation
Russian Federation
Serafima B. Sugarova, Cand. Sci. (Med.), Head of the Department of Diagnostics and Rehabilitation of Hearing Disorder
9, Bronnitskaya St., St Petersburg, 19001
Yu. S. Korneva
Saint Petersburg Research Institute of Ear, Throat, Nose and Speech
Russian Federation
Russian Federation
Yuliya S. Korneva, Postgraduate Student of the Department of Diagnostics and Rehabilitation of Hearing Impairment
9, Bronnitskaya St., St Petersburg, 19001
G. V. Ivanov
Saint Petersburg Research Institute of Ear, Throat, Nose and Speech
Russian Federation
Russian Federation
Grigoriy V. Ivanov, Otorhinolaryngology Clinical Resident
9, Bronnitskaya St., St Petersburg, 19001
References
1. Freeman SR, Sennaroglu L. Management of Cochlear Nerve Hypoplasia and Aplasia. Adv Otorhinolaryngol. 2018;81:81–92. https://doi.org/10.1159/000485542.
2. Blake KD, Prasad C. CHARGE syndrome. Orphanet J Rare Dis. 2006;1:34. https://doi.org/10.1186/1750-1172-1-34.
3. Vesseur A, Langereis M, Free R, Snik A, van Ravenswaaij-Arts C, Mylanus E. Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome. Am J Med Genet A. 2016;170(8):2022–2030. https://doi.org/10.1002/ajmg.a.37692.
4. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A. 2010;152A(3):674–686. https://doi.org/10.1002/ajmg.a.33323.
5. Holcomb MA, Rumboldt Z, White DR. Cochlear nerve deficiency in children with CHARGE syndrome. Laryngoscope. 2013;123(3):793–796. https://doi.org/10.1002/lary.23682.
6. de Geus CM, Free RH, Verbist BM, Sival DA, Blake KD, Meiners LC, van Ravenswaaij-Arts CMA. Guidelines in CHARGE syndrome and the missing link: Cranial imaging. Am J Med Genet C Semin Med Genet. 2017;175(4): 450–464. https://doi.org/10.1002/ajmg.c.31593.
7. Amin N, Sethukumar P, Pai I, Rajput K, Nash R. Systematic review of cochlear implantation in CHARGE syndrome. Cochlear Implants Int. 2019;20(5):266–280. https://doi.org/10.1080/14670100.2019.1634857.
8. Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr. 1979;95(3):395–398. https://doi.org/10.1016/s0022-3476(79)80513-2.
9. Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation – a syndrome. J Pediatr. Ophthalmol Strabismus. 1979;16(2):122–128. https://doi.org/10.3928/0191-3913-19790301-10.
10. Pagon RA, Graham JM, Zonana J, Yong SL. Coloboma, congenital heart disease and choanal atresia with multiple anomalies: CHARGE syndrome. J Pediatr. 1981:99(2):223–227. https://doi.org/10.1016/s0022-3476(81)80454-4.
11. Blake KD, Russell-Eggitt IM, Morgan DW, Ratcliffe JM, Wyse RK. Who’s in CHARGE? Multidisciplinary management of patients with CHARGE association. Arch Dis Child. 1990;65(2):217–223. https://doi.org/10.1136/adc.65.2.217.
12. Blake KD, Davenport SLH, Hall BD, Hefner MA, Pagon RA, Williams MS. et al. CHARGE association: an update and review for the primary pediatrician. Clin Pediatr. 1998;37(3):159–173. https://doi.org/10.1177/000992289803700302.
13. Shah UK, Ohlms LA, Neault MW, Willson KD, McGuirt WF Jr, Hobbs N et al. Otologic management in children with the CHARGE association. Int J Pediatr Otorhinolaryngol. 1998;44(2):139–147. https://doi.org/10.1016/s0165-5876(98)00064-0.
14. Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE et al. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006;78(2):303–314. https://doi.org/10.1086/500273.
15. Bergman JEH, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet. 2011;48(5):334–342. https://doi.org/10.1136/jmg.2010.087106.
16. Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am J Med Genet A. 2005;133A(3):309–317. https://doi.org/10.1002/ajmg.a.30560.
17. Ahmed M, Moon R, Prajapati RS, James E, Basson MA, Streit A. The chromatin remodelling factor Chd7 protects auditory neurons and sensory hair cells from stress-induced degeneration. Commun Biol. 2021;4(1):1260. https://doi.org/10.1038/s42003-021-02788-6.
18. Nie J, Ueda Y, Solivais AJ, Hashino E. CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids. Nat Commun. 2022;13(1):7053. https://doi.org/10.1038/s41467-022-34759-8.
19. Balow SA, Pierce LX, Zentner GE, Conrad PA, Davis S, Sabaawy HE et al. Knockdown of fbxl10/kdm2bb rescues chd7 morphant phenotype in a zebrafish model of CHARGE syndrome. Dev Biol. 2013;382(1):57–69. https://doi.org/10.1016/j.ydbio.2013.07.026.
20. Basson MA, van Ravenswaaij-Arts C. Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome. Trends Genet. 2015;31(10):600–611. https://doi.org/10.1016/j.tig.2015.05.009.
21. Edwards BM, Kileny PR, Van Riper LA. CHARGE syndrome: a window of opportunity for audiologic intervention. Pediatrics. 2002;110(1 Pt 1):119–126. https://doi.org/10.1542/peds.110.1.119.
22. Hsu P, Ma A, Wilson M, Williams G, Curotta J, Munns CF, Mehr S. CHARGE syndrome: a review. J Paediatr Child Health. 2014;50(7):504–511. https://doi.org/10.1111/jpc.12497.
23. Hudson A, Trider CL, Blake K. CHARGE Syndrome. Pediatr Rev. 2017;38(1):56–59. https://doi.org/10.1542/pir.2016-0050.
24. Meisner JK, Martin DM. Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes. Am J Med Genet C Semin Med Genet. 2020;184(1):81–89. https://doi.org/10.1002/ajmg.c.31761.
25. Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L et al. CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet. 2006;43(4):306–314. https://doi.org/10.1136/jmg.2005.036061.
26. Vesseur AC, Verbist BM, Westerlaan HE, Kloostra FJJ, Admiraal RJC, van Ravenswaaij-Arts CMA et al. CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery. Eur Arch Otorhinolaryngol. 2016;273(12):4225–4240. https://doi.org/10.1007/s00405-016-4141-z.
27. Morimoto AK, Wiggins RH 3rd, Hudgins PA, Hedlund GL, Hamilton B, Mukherji SK et al. Hedlund GL, Hamilton B, Mukherji SK, Telian SA, Harnsberger HR.Absent semicircular canals in CHARGE syndrome: radiologic spectrum of findings. AJNR Am J Neuroradiol. 2006;27(8):1663–1671. Available at: https://www.ajnr.org/content/27/8/1663.long.
28. Young NM, Tournis E, Sandy J, Hoff SR, Ryan M. Outcomes and Time to Emergence of Auditory Skills After Cochlear Implantation of Children With Charge Syndrome. Otol Neurotol. 2017;38(8):1085–1091. https://doi.org/10.1097/MAO.0000000000001488.
29. Vincenti V, Di Lella F, Falcioni M, Negri M, Zanetti D. Cochlear implantation in children with CHARGE syndrome: a report of eight cases. Eur Arch Otorhinolaryngol. 2018;275(8):1987–1993. https://doi.org/10.1007/s00405-018-5053-x.
30. da Costa Monsanto R, Knoll RM, de Oliveira Penido N, Song G, Santos F, Paparella MM, Cureoglu S. Otopathologic Abnormalities in CHARGE Syndrome. Otolaryngol Head Neck Surg. 2022;166(2):363–372. https://doi.org/10.1177/01945998211008911.
31. Kuzovkov VE, Sugarova SB, Lilenko AS, Levin SV, Korneva YuS, Levina EA et al. Three-dimensional (3D) visualization of inner ear when planning surgical stageof cochlear implantation. Rossiiskaya Otorinolaringologiya. 2024;23(2):44–52. (In Russ.) https://doi.org/10.18692/1810-4800-2024-2-44-52.
32. Jang JH, Kim H, Mun HA, Choo OS, Park HY, Ha EJ, Choung YH. Can radiological measurements of cochlear nerve parameters predict cochlear implant outcome? Our experience in 87 ears. Clin Otolaryngol. 2019;44(6):1142–1146. https://doi.org/10.1111/coa.13419.
33. Birman CS, Powell HR, Gibson WP, Elliott EJ. Cochlear Implant Outcomes in Cochlea Nerve Aplasia and Hypoplasia. Otol Neurotol. 2016;37(5):438–445. https://doi.org/10.1097/MAO.0000000000000997.
34. Kuzovkov VE, Sugarova SB, Koroleva IV, Korneva YS, Lilenko AS, Tanaschishina VA. Prospects for cochlear implantation in patients with auditory nerve dysplasia. Vestnik Oto-Rino-Laringologii. 2023;88(4):66–72. (In Russ.) https://doi.org/10.17116/otorino20228804166.
35. Broomfield SJ, Bruce IA, Henderson L, Ramsden RT, Green KM. Cochlear implantation in children with syndromic deafness. Int J Otorhinolaryngol. 2013;77(8):1312–1316. https://doi.org/10.1016/j.ijporl.2013.05.022.
36. Speaker RB, Roberston J, Simoes-Franklin C, Glynn F, Walshe P, Viani L. Quality of life outcomes in cochlear implantation of children with profound and multiple learning disability. Cochlear Implants Int. 2018;19(3):162–166. https://doi.org/10.1080/14670100.2018.1434451.
37. Lanson BG, Green JE, Roland JJT, Lalwani AK, Waltzman SB. Cochlear implantation in children with CHARGE syndrome: therapeutic decisions and outcomes. Laryngoscope. 2007;117(7):1260–1266. https://doi.org/10.1097/MLG.0b013e31806009c9.
38. Arndt S, Laszig R, Beck R, Schild C, Maier W, Birkenhäger R et al. Spectrum of hearing disorders and their management in children with CHARGE syndrome. Otol Neurotol. 2010;31(1):67–73. https://doi.org/10.1097/MAO.0b013e3181c0e972.
39. Birman CS, Brew JA, Gibson WP, Elliott EJ. CHARGE syndrome and Cochlear implantation: difficulties and outcomes in the pediatric population. Int J Pediatr Otorhinolaryngol. 2015;79(4):487–492. https://doi.org/10.1016/j.ijporl.2015.01.004.
40. Ricci G, Trabalzini F, Faralli M, D’Ascanio L, Cristi C, Molini E. Cochlear implantation in children with “CHARGE syndrome”: surgical options and outcomes. Eur Arch Otorhinolaryngol. 2014;271(3):489–493. https://doi.org/10.1007/s00405-013-2424-1.
41. Trevisi P, Ciorba A, Aimoni C, Bovo R, Martini A. Outcomes of long-term audiological rehabilitation in charge syndrome. Acta Otorhinolaryngol Ital. 2016;36(3):206–214. https://doi.org/10.14639/0392-100X-837.
42. Aragón-Ramos P, Pedrero-Escalas MF, Gavilán J, Pérez-Mora R, HerránMartin B, Lassaletta L. Auditory Skills following Cochlear Implantation in Children with the Charge Syndrome. Audiol Neurootol. 2019;24(3):139–146. https://doi.org/10.1159/000500659.
43. Rah YC, Lee JY, Suh MW, Park MK, Lee JH, Chang SO, Oh SH. Cochlear Implantation in Patients With CHARGE Syndrome. Ann Otol Rhinol Laryngol. 2016;125(11):924–930. https://doi.org/10.1177/0003489416665190.
44. Ahn JH, Lee KS. Outcomes of cochlear implantation in children with CHARGE syndrome. Acta Otolaryngol. 2013;133(11):1148–1153. https://doi.org/10.3109/00016489.2013.814155.
45. Vesseur A, Free R, Langereis M, Snels C, Snik A, Ravenswaaij-Arts Cv, Mylanus E. Suggestions for a guideline for cochlear implantation in CHARGE syndrome. Otol Neurotol. 2016;37(9):1275–1283. https://doi.org/10.1097/MAO.0000000000001177.
46. Young NM, Francine KM, Ryan ME, Tournis E, Yaras S. Pediatric cochlear implantation of children with eighth nerve deficiency. Int J Ped Otorhinolaryngol. 2012;76(10):1442–1448. https://doi.org/10.1016/j.ijporl.2012.06.019.
47. Daikhes NA, Zelikovich EI, Balakina AV, Machalov AS, Toropchina LV, Kuznetsov AO. Peculiarities of diagnostics and management of a child with CHARGE syndrome. Rossiiskaya Otorinolaringologiya 2022;21(3):112–121. (In Russ.) https://doi.org/10.18692/1810-4800-2022-3-112-121.
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Markova TG, Sugarova SB, Korneva YS, Ivanov GV. Auditory nerve anomalies in children with CHARGE syndrome. Meditsinskiy sovet = Medical Council. 2025;(18):136-144. (In Russ.)
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