Seguimiento otológico en niños con síndrome de Down
Resumen Introducción y objetivo: La trisomía 21 es la alteración cromosómica más frecuente que a consecuencia del incremento experimentado en su esperanza de vida, requiere unos cuidados más especializados. Las manifestaciones de la esfera ORL representan un foco dominante de morbilidad. Los problemas auditivos son más habituales que en el resto de población, pudiendo mediatizar la evolución educativa y social, afectando su calidad de vida. El objetivo de este trabajo ha consistido en analizar los resultados del seguimiento otológico y auditivo de los niños con síndrome de Down (SD), evaluados en el Servicio de ORL del Hospital Clínico Universitario de Valladolid (HCUV). Método: Estudio longitudinal prospectivo/retrospectivo de 83 niños con SD que acudieron a consulta de hipoacusia infantil entre los años 1993 y 2021.Resultados: Detectamos un 66% de malformaciones de oído externo. La patología de oído medio estuvo presente en el 93%. Se objetivó hipoacusia en el 61%, siendo bilateral en el 78%. El 87% de las diagnosticadas, son de grado leve/moderado y el 6% profundo. La hipoacusia mixta fue el tipo más frecuente, seguida de la neurosensorial. Se realizó cirugía ORL al 62%, destacando la adenoidectomía. Discusión: El seguimiento ORL recomendado para los niños con SD resulta una tarea difícil de organizar, donde se impone desarrollar una planificación específica, que lo haga posible en nuestro sistema público de salud. Conclusiones: Dada la frecuencia e importantes repercusiones de las alteraciones auditivas en los niños con SD, es fundamental la identificación precoz y el seguimiento indefinido, para intentar favorecer su correcto desarrollo.
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Sherman Sl, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221–7.
Centers for Disease Control and Prevention. Data statistics on Down Syndrome. [Internet]. 2020 Oct [consultado 3 Jul 2022]. Disponible en: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html
Síndrome Down: DOWN España [Internet]. www.sindromedown.net. [consultado 3 Jul 2022]. Disponible en: https://www.sindromedown.net/sindromedown/#:~:text=Se%20estima%20que%20en%20Espa%C3%B1a.
Glasson EJ, Dye DE, Bittles AH. The triple challenges associated with age-related comorbidities in Down syndrome. J Intellect Disabil Res. 2014;58(4):393-8. doi: 10.1111/jir.12026. PMID: 23510031.
Khalid-Raja M, Tzifa K. Current demand of paediatric otolaryngology input for children with Down's syndrome in a tertiary referral centre. J Laryngol Otol. 2016;130(11):995-1000. doi: 10.1017/S0022215116008963. PMID: 27707422.
Shott SR, Joseph A, Heithaus D. Hearing loss in children with Down syndrome. Int J Pediatr Otorhinolaryngol. 2001;61(3):199-205. doi: 10.1016/s0165-5876(01)00572-9. PMID: 11700189.
Basonbul RA, Ronner EA, Rong A, Rong G, Cohen MS. Audiologic testing in children with Down Syndrome: Are current guidelines optimal? Int J Pediatr Otorhinolaryngol. 2020;134:110017. doi: 10.1016/j.ijporl.2020.110017. PMID: 32251971.
Hans PS, Belloso A, Sheehan PZ. Parental satisfaction with health services provided to children with Down syndrome in north-west England: an ENT perspective. J Laryngol Otol. 2007;121(4):382-6. doi: 10.1017/S0022215106003355. PMID: 17040616.
Sait S, Alamoudi S, Zawawi F. Management outcomes of otitis media with effusion in children with down syndrome: A systematic review Int J Pediatr Otorhinolaryngol. 2022;156:111092.
Tedeschi AS, Roizen NJ, Taylor HG, Murray G, Curtis CA, Parikh AS. The prevalence of congenital hearing loss in neonates with Down syndrome. J Pediatr. 2015;166(1):168-71. doi: 10.1016/j.jpeds.2014.09.005. PMID: 25444523.
Nightengale E, Yoon P, Wolter-Warmerdam K, Daniels D, Hickey F. Understanding Hearing and Hearing Loss in Children With Down Syndrome. Am J Audiol. 2017 Sep 18;26(3):301-8. doi: 10.1044/2017_AJA-17-0010. PMID: 28854301.
Chin CJ, Khami MM, Husein M. A general review of the otolaryngologic manifestations of Down Syndrome. Int J Pediatr Otorhinolaryngol. 2014;78(6):899-904. doi: 10.1016/j.ijporl.2014.03.012. PMID: 24704318.
Yaneza MM, Hunter K, Irwin S, Kubba H. Hearing in school-aged children with trisomy 21 - results of a longitudinal cohort study in children identified at birth. Clin Otolaryngol. 2016;41(6):711-717. doi: 10.1111/coa.12606. PMID: 26663508.
Dy AES, Lapeña JFF Jr. External Auditory Canal Dimensions, Age, and Cerumen Retention or Impaction in Persons With Down Syndrome. Ann Otol Rhinol Laryngol. 2018;127(4):253-257. doi: 10.1177/0003489418756678. PMID: 29426243.
Strome SE, Strome M. Down syndrome: an otolaryngologic perspective. J Otolaryngol. 1992;21(6):394-7. PMID: 1494179.
Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393-406. doi: 10.1542/peds.2011-1605. Erratum in: Pediatrics. 2011 Dec;128(6):1212. PMID: 21788214.
Hall A, Pryce H, Bruce IA, Callery P, Lakhanpaul M, Schilder AGM. A mixed-methods study of the management of hearing loss associated with otitis media with effusion in children with Down syndrome. Clin Otolaryngol. 2019;44(1):32-38. doi: 10.1111/coa.13228. PMID: 30222906; PMCID: PMC7379918.
Iino Y, Imamura Y, Harigai S, Tanaka Y. Efficacy of tympanostomy tube insertion for otitis media with effusion in children with Down syndrome. Int J Pediatr Otorhinolaryngol. 1999;49(2):143-9. doi: 10.1016/s0165-5876(99)00117-2. PMID: 10504021.
Mitchell RB, Call E, Kelly J. Ear, nose and throat disorders in children with Down syndrome. Laryngoscope. 2003;113(2):259-63. doi: 10.1097/00005537-200302000-00012. PMID: 12567079.
Rodman R, Pine HS. The otolaryngologist's approach to the patient with Down syndrome. Otolaryngol Clin North Am. 2012;45(3):599-629, vii-viii. doi: 10.1016/j.otc.2012.03.010. PMID: 22588039.
Paulson LM, Weaver TS, Macarthur CJ. Outcomes of tympanostomy tube placement in children with Down syndrome--a retrospective review. Int J Pediatr Otorhinolaryngol. 2014;78(2):223-6. doi: 10.1016/j.ijporl.2013.10.062. PMID: 24321289.
Fortnum H, Leighton P, Smith MD, Brown L, Jones M, Benton C, et al. Assessment of the feasibility and clinical value of further research to evaluate the management options for children with Down syndrome and otitis media with effusion: a feasibility study. Health Technol Assess. 2014;18(60):1-147, v-vi. doi: 10.3310/hta18600. PMID: 25270051.
Manickam V, Shott GS, Heithaus D, Shott SR. Hearing loss in Down Syndrome revisited - 15 years later. Int J Pediatr Otorhinolaryngol. 2016;88:203-7. doi: 10.1016/j.ijporl.2016.07.012. PMID: 27497415.
Park AH, Warner J, Sturgill N, Alder SC. A survey of parental views regarding their child's hearing loss: a pilot study. Otolaryngol Head Neck Surg. 2006;134(5):794-800. doi: 10.1016/j.otohns.2006.01.013. PMID: 16647537.
Lieu JE. Speech-language and educational consequences of unilateral hearing loss in children. Arch Otolaryngol Head Neck Surg. 2004;130(5):524-30. doi: 10.1001/archotol.130.5.524. PMID: 15148171.
Park AH, Wilson MA, Stevens PT, Harward R, Hohler N. Identification of hearing loss in pediatric patients with Down syndrome. Otolaryngol Head Neck Surg. 2012;146(1):135-40. doi: 10.1177/0194599811425156. PMID: 21987652.
CODEPEH. Comisión para la detección precoz de la hipoacusia. Núñez-Batalla F, Jáudenes-Casaubón C, Sequí-Canet JM, Vivanco-Allende A, Zubicaray-Ugarteche J. Sordera infantil con discapacidad asociada (DA+): Recomendaciones CODEPEH 2021. Especiales FIAPAS. 2021;178:19pp.
Barr E, Dungworth J, Hunter K, McFarlane M, Kubba H. The prevalence of ear, nose and throat disorders in preschool children with Down's syndrome in Glasgow. Scott Med J. 2011;56(2):98-103. doi: 10.1258/smj.2011.011036. PMID: 21670137.
Schwartz DM, Schwartz RH. Acoustic impedance and otoscopic findings in young children with Down's syndrome. Arch Otolaryngol. 1978;104(11):652-6. doi: 10.1001/archotol.1978.00790110042011. PMID: 152103.
Maris M, Wojciechowski M, Van de Heyning P, Boudewyns A. A cross-sectional analysis of otitis media with effusion in children with Down syndrome. Eur J Pediatr. 2014;173(10):1319-25. doi: 10.1007/s00431-014-2323-5. PMID: 24816633.
Paludetti G, Conti G, DI Nardo W, DE Corso E, Rolesi R, Picciotti PM, et al. Infant hearing loss: from diagnosis to therapy Official Report of XXI Conference of Italian Society of Pediatric Otorhinolaryngology. Acta Otorhinolaryngol Ital. 2012;32(6):347-70. PMID: 23349554.
Venail F, Gardiner Q, Mondain M. ENT and speech disorders in children with Down's syndrome: an overview of pathophysiology, clinical features, treatments, and current management. Clin Pediatr (Phila). 2004;43(9):783-91. doi: 10.1177/000992280404300902. PMID: 15583773.
Harada T, Sando I. Temporal bone histopathologic findings in Down's syndrome. Arch Otolaryngol. 1981;107(2):96-103. doi: 10.1001/archotol.1981.00790380026007. PMID: 6451213.
Fausch C, Röösli C. The incudomalleolar articulation in Down syndrome (trisomy 21): a temporal bone study. Otol Neurotol. 2015;36(2):348-53. doi: 10.1097/MAO.0000000000000456. PMID: 24914797.
Balkany TJ, Mischke RE, Downs MP, Jafek BW. Ossicular abnormalities in Down's syndrome. Otolaryngol Head Neck Surg. 1979;87(3):372-84. doi: 10.1177/019459987908700317. PMID: 158733.
Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006 ;116(12):2113-9. doi: 10.1097/01.mlg.0000245034.77640.4f. PMID: 17146381.
Intrapiromkul J, Aygun N, Tunkel DE, Carone M, Yousem DM. Inner ear anomalies seen on CT images in people with Down syndrome. Pediatr Radiol. 2012;42(12):1449-55. doi: 10.1007/s00247-012-2490-3. PMID: 22936282.
Benito-Orejas JI, Ramírez B, Morais D, Almaraz A, Fernández-Calvo JL. Comparison of two-step transient evoked otoacoustic emissions (TEOAE) and automated auditory brainstem response (AABR) for universal newborn hearing screening programs. Int J Pediatr Otorhinolaryngol. 2008;72(8):1193-201. doi: 10.1016/j.ijporl.2008.04.011. PMID: 18550180.
Bermudez BEBV, de Souza do Amaral ME, da Silva Gomes C, Novadzki IM, de Oliveira CM. Respiratory and otolaryngological disorders in Down syndrome from one center in Brazil. Am J Med Genet A. 2021;185(8):2356-2360. doi: 10.1002/ajmg.a.62244. PMID: 34047053.
Simon F, Haggard M, Rosenfeld RM, Jia H, Peer S, Calmels MN, Couloigner V, Teissier N. International consensus (ICON) on management of otitis media with effusion in children. Eur Ann Otorhinolaryngol Head Neck Dis. 2018;135(1S):S33-S39. doi: 10.1016/j.anorl.2017.11.009. PMID: 29398506.
Centers for Disease Control and Prevention. Data statistics on Down Syndrome. [Internet]. 2020 Oct [consultado 3 Jul 2022]. Disponible en: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html
Síndrome Down: DOWN España [Internet]. www.sindromedown.net. [consultado 3 Jul 2022]. Disponible en: https://www.sindromedown.net/sindromedown/#:~:text=Se%20estima%20que%20en%20Espa%C3%B1a.
Glasson EJ, Dye DE, Bittles AH. The triple challenges associated with age-related comorbidities in Down syndrome. J Intellect Disabil Res. 2014;58(4):393-8. doi: 10.1111/jir.12026. PMID: 23510031.
Khalid-Raja M, Tzifa K. Current demand of paediatric otolaryngology input for children with Down's syndrome in a tertiary referral centre. J Laryngol Otol. 2016;130(11):995-1000. doi: 10.1017/S0022215116008963. PMID: 27707422.
Shott SR, Joseph A, Heithaus D. Hearing loss in children with Down syndrome. Int J Pediatr Otorhinolaryngol. 2001;61(3):199-205. doi: 10.1016/s0165-5876(01)00572-9. PMID: 11700189.
Basonbul RA, Ronner EA, Rong A, Rong G, Cohen MS. Audiologic testing in children with Down Syndrome: Are current guidelines optimal? Int J Pediatr Otorhinolaryngol. 2020;134:110017. doi: 10.1016/j.ijporl.2020.110017. PMID: 32251971.
Hans PS, Belloso A, Sheehan PZ. Parental satisfaction with health services provided to children with Down syndrome in north-west England: an ENT perspective. J Laryngol Otol. 2007;121(4):382-6. doi: 10.1017/S0022215106003355. PMID: 17040616.
Sait S, Alamoudi S, Zawawi F. Management outcomes of otitis media with effusion in children with down syndrome: A systematic review Int J Pediatr Otorhinolaryngol. 2022;156:111092.
Tedeschi AS, Roizen NJ, Taylor HG, Murray G, Curtis CA, Parikh AS. The prevalence of congenital hearing loss in neonates with Down syndrome. J Pediatr. 2015;166(1):168-71. doi: 10.1016/j.jpeds.2014.09.005. PMID: 25444523.
Nightengale E, Yoon P, Wolter-Warmerdam K, Daniels D, Hickey F. Understanding Hearing and Hearing Loss in Children With Down Syndrome. Am J Audiol. 2017 Sep 18;26(3):301-8. doi: 10.1044/2017_AJA-17-0010. PMID: 28854301.
Chin CJ, Khami MM, Husein M. A general review of the otolaryngologic manifestations of Down Syndrome. Int J Pediatr Otorhinolaryngol. 2014;78(6):899-904. doi: 10.1016/j.ijporl.2014.03.012. PMID: 24704318.
Yaneza MM, Hunter K, Irwin S, Kubba H. Hearing in school-aged children with trisomy 21 - results of a longitudinal cohort study in children identified at birth. Clin Otolaryngol. 2016;41(6):711-717. doi: 10.1111/coa.12606. PMID: 26663508.
Dy AES, Lapeña JFF Jr. External Auditory Canal Dimensions, Age, and Cerumen Retention or Impaction in Persons With Down Syndrome. Ann Otol Rhinol Laryngol. 2018;127(4):253-257. doi: 10.1177/0003489418756678. PMID: 29426243.
Strome SE, Strome M. Down syndrome: an otolaryngologic perspective. J Otolaryngol. 1992;21(6):394-7. PMID: 1494179.
Bull MJ; Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128(2):393-406. doi: 10.1542/peds.2011-1605. Erratum in: Pediatrics. 2011 Dec;128(6):1212. PMID: 21788214.
Hall A, Pryce H, Bruce IA, Callery P, Lakhanpaul M, Schilder AGM. A mixed-methods study of the management of hearing loss associated with otitis media with effusion in children with Down syndrome. Clin Otolaryngol. 2019;44(1):32-38. doi: 10.1111/coa.13228. PMID: 30222906; PMCID: PMC7379918.
Iino Y, Imamura Y, Harigai S, Tanaka Y. Efficacy of tympanostomy tube insertion for otitis media with effusion in children with Down syndrome. Int J Pediatr Otorhinolaryngol. 1999;49(2):143-9. doi: 10.1016/s0165-5876(99)00117-2. PMID: 10504021.
Mitchell RB, Call E, Kelly J. Ear, nose and throat disorders in children with Down syndrome. Laryngoscope. 2003;113(2):259-63. doi: 10.1097/00005537-200302000-00012. PMID: 12567079.
Rodman R, Pine HS. The otolaryngologist's approach to the patient with Down syndrome. Otolaryngol Clin North Am. 2012;45(3):599-629, vii-viii. doi: 10.1016/j.otc.2012.03.010. PMID: 22588039.
Paulson LM, Weaver TS, Macarthur CJ. Outcomes of tympanostomy tube placement in children with Down syndrome--a retrospective review. Int J Pediatr Otorhinolaryngol. 2014;78(2):223-6. doi: 10.1016/j.ijporl.2013.10.062. PMID: 24321289.
Fortnum H, Leighton P, Smith MD, Brown L, Jones M, Benton C, et al. Assessment of the feasibility and clinical value of further research to evaluate the management options for children with Down syndrome and otitis media with effusion: a feasibility study. Health Technol Assess. 2014;18(60):1-147, v-vi. doi: 10.3310/hta18600. PMID: 25270051.
Manickam V, Shott GS, Heithaus D, Shott SR. Hearing loss in Down Syndrome revisited - 15 years later. Int J Pediatr Otorhinolaryngol. 2016;88:203-7. doi: 10.1016/j.ijporl.2016.07.012. PMID: 27497415.
Park AH, Warner J, Sturgill N, Alder SC. A survey of parental views regarding their child's hearing loss: a pilot study. Otolaryngol Head Neck Surg. 2006;134(5):794-800. doi: 10.1016/j.otohns.2006.01.013. PMID: 16647537.
Lieu JE. Speech-language and educational consequences of unilateral hearing loss in children. Arch Otolaryngol Head Neck Surg. 2004;130(5):524-30. doi: 10.1001/archotol.130.5.524. PMID: 15148171.
Park AH, Wilson MA, Stevens PT, Harward R, Hohler N. Identification of hearing loss in pediatric patients with Down syndrome. Otolaryngol Head Neck Surg. 2012;146(1):135-40. doi: 10.1177/0194599811425156. PMID: 21987652.
CODEPEH. Comisión para la detección precoz de la hipoacusia. Núñez-Batalla F, Jáudenes-Casaubón C, Sequí-Canet JM, Vivanco-Allende A, Zubicaray-Ugarteche J. Sordera infantil con discapacidad asociada (DA+): Recomendaciones CODEPEH 2021. Especiales FIAPAS. 2021;178:19pp.
Barr E, Dungworth J, Hunter K, McFarlane M, Kubba H. The prevalence of ear, nose and throat disorders in preschool children with Down's syndrome in Glasgow. Scott Med J. 2011;56(2):98-103. doi: 10.1258/smj.2011.011036. PMID: 21670137.
Schwartz DM, Schwartz RH. Acoustic impedance and otoscopic findings in young children with Down's syndrome. Arch Otolaryngol. 1978;104(11):652-6. doi: 10.1001/archotol.1978.00790110042011. PMID: 152103.
Maris M, Wojciechowski M, Van de Heyning P, Boudewyns A. A cross-sectional analysis of otitis media with effusion in children with Down syndrome. Eur J Pediatr. 2014;173(10):1319-25. doi: 10.1007/s00431-014-2323-5. PMID: 24816633.
Paludetti G, Conti G, DI Nardo W, DE Corso E, Rolesi R, Picciotti PM, et al. Infant hearing loss: from diagnosis to therapy Official Report of XXI Conference of Italian Society of Pediatric Otorhinolaryngology. Acta Otorhinolaryngol Ital. 2012;32(6):347-70. PMID: 23349554.
Venail F, Gardiner Q, Mondain M. ENT and speech disorders in children with Down's syndrome: an overview of pathophysiology, clinical features, treatments, and current management. Clin Pediatr (Phila). 2004;43(9):783-91. doi: 10.1177/000992280404300902. PMID: 15583773.
Harada T, Sando I. Temporal bone histopathologic findings in Down's syndrome. Arch Otolaryngol. 1981;107(2):96-103. doi: 10.1001/archotol.1981.00790380026007. PMID: 6451213.
Fausch C, Röösli C. The incudomalleolar articulation in Down syndrome (trisomy 21): a temporal bone study. Otol Neurotol. 2015;36(2):348-53. doi: 10.1097/MAO.0000000000000456. PMID: 24914797.
Balkany TJ, Mischke RE, Downs MP, Jafek BW. Ossicular abnormalities in Down's syndrome. Otolaryngol Head Neck Surg. 1979;87(3):372-84. doi: 10.1177/019459987908700317. PMID: 158733.
Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 2006 ;116(12):2113-9. doi: 10.1097/01.mlg.0000245034.77640.4f. PMID: 17146381.
Intrapiromkul J, Aygun N, Tunkel DE, Carone M, Yousem DM. Inner ear anomalies seen on CT images in people with Down syndrome. Pediatr Radiol. 2012;42(12):1449-55. doi: 10.1007/s00247-012-2490-3. PMID: 22936282.
Benito-Orejas JI, Ramírez B, Morais D, Almaraz A, Fernández-Calvo JL. Comparison of two-step transient evoked otoacoustic emissions (TEOAE) and automated auditory brainstem response (AABR) for universal newborn hearing screening programs. Int J Pediatr Otorhinolaryngol. 2008;72(8):1193-201. doi: 10.1016/j.ijporl.2008.04.011. PMID: 18550180.
Bermudez BEBV, de Souza do Amaral ME, da Silva Gomes C, Novadzki IM, de Oliveira CM. Respiratory and otolaryngological disorders in Down syndrome from one center in Brazil. Am J Med Genet A. 2021;185(8):2356-2360. doi: 10.1002/ajmg.a.62244. PMID: 34047053.
Simon F, Haggard M, Rosenfeld RM, Jia H, Peer S, Calmels MN, Couloigner V, Teissier N. International consensus (ICON) on management of otitis media with effusion in children. Eur Ann Otorhinolaryngol Head Neck Dis. 2018;135(1S):S33-S39. doi: 10.1016/j.anorl.2017.11.009. PMID: 29398506.
Benito-Orejas, J. I., Losada-Campa, J., González-Sosto, M., Álvarez-Álvarez, M., Duque-Holguera, V., & Santos-Pérez, J. (2023). Seguimiento otológico en niños con síndrome de Down. Revista ORL, 14(2), e30084. https://doi.org/10.14201/orl.30084
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