Audiological findings in Rubinstein-Taybi syndrome: literature review
DOI:
https://doi.org/10.33233/fb.v24i1.5298Keywords:
hearing, Rubinstein-Taybi Syndrome, auditory perceptionAbstract
Aim: To verify the audiological findings in subjects with Rubinstein-Taybi syndrome (RTS) through a systematic literature search. Methods: The descriptors “Rubinstein Taybi Syndrome” AND “Hearing” were used in the main databases. The survey was limited to publications carried out until June 2020, without language limitation. All studies that involved auditory assessments performed in subjects with RTS were included. Studies involving a population without RTS, letters to the editor and studies in which the original articles were not found were excluded from the analysis. Results: The research resulted in the selection of five articles that showed that there is no standardization in audiological tests due to the heterogeneity of the characteristics found in the RTS. Conductive hearing loss was widely reported, but it was not possible to verify whether there is an audiological profile in this population. Conclusion: Few studies have evaluated the hearing of patients with RTS. In addition, it is possible to observe that audiological tests are not yet standardized. It is recommended that further studies be carried out with larger samples in order to know the most common audiological alterations, so that appropriate therapeutic intervention is early indicated.
References
Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities: a possible mental retardation syndrome. Am J Dis Child. 1963;105:588. doi: 10.1001/archpedi.1963.02080040590010
Delboni TP. Investigação genético-clínica em pacientes com síndrome de Rubinstein-Taybi [Dissertação] [Internet]. São Paulo: Universidade de São Paulo, 2009. doi: 10.11606/d.5.2009.tde-19022010-163029
Spena S, Gervasini C, Milani D. Ultra-rare syndromes: the example of Rubinstein–Taybi Syndrome. J Ped Genet. 2015;4(3):177-78. doi: 10.1055/s-0035-1564571
Associação Arts do Brasil [Internet]. [cited 2023 Jan 23]. Disponível em: http://www.artsbrasil.org.br
Martins RHG, Bueno EC, Fioravanti MP. Síndrome de Rubinstein-Taybi: anomalias físicas, manifestações clínicas e avaliação auditiva. Rev Bras Otorrinolaringol. 2003;69(3):427-431. doi: 10.1590/s0034-72992003000300019
Peñaranda A, Cerón M. Rubinstein-Taybi syndrome and mixed bilateral hypoacousia case report. Otol Neurotol. 2007;28(4):501-3. doi: 10.1097/mao.0b013e31803115d4
Menke LA, Belzen MJ, Alders M, Cristofoli F, Ehmke N, Fergelot P, et al. CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype. Am J Med Genet Part A. 2016;170(10):2681-93. doi: 10.1002/ajmg.a.37800
Menke LA, Gardeitchik T, Gardeitchick T, Hammond P, Heimdal KR, Houge G, Hufnagil SB, Ji J, et al. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am J Med Genet A. 2018;176(4):862-76. doi: 10.1002/ajmg.a.38626
Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtany S, et al. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability? Am J Med Genet Part A. 2010;155(4):880-4. doi: 10.1002/ajmg.a.33879
Carrico B, Samelli AG, Matas CG, Magliaro FCL, Carvallo RMM, Limongi SCO et al. Avaliação auditiva periférica em crianças com síndrome de Down. Audiol Commun Res. 2014;19(3):280-5. doi: 10.1590/s2317-643120140003000012
Balbani APS, Montovani JC. Impacto das otites médias na aquisição da linguagem em crianças. J Pediatr. 2003;79(5):391-6. doi: 10.1590/s0021-75572003000500005
Colella-Santos MF, Donadon C, Sanfins MD, Borges LR. Otitis media: long-term effect on central auditory nervous system. Biomed Res Int. 2019;1-10. doi: 10.1155/2019/8930904
Vargas GC, Vidor DCGM, Machado MS. Avaliação simplificada e comportamental do processamento auditivo em escolares: estabelecendo relações. Revista CEFAC. 2014;16(4)1069-77. doi: 10.1590/1982-021620142413
Sperancini CL, Souza DPM, Silva TM, Di Ninno CQM, Amorim MN. A eficácia de exercícios para disfunção da tuba auditiva. Rev Soc Bras Fonoaudiol. 2007;12(1):34-40. doi: 10.1590/s1516-80342007000100008
Metz O. Limiar da contração reflexa dos músculos da orelha média e recrutamento de volume. Arch Otolaryngol. 1953;55:536-43.
Burguetti FAR, Carvallo RMM. Sistema auditivo eferente: efeito no processamento auditivo. Rev Bras Otorrinolaringol. 2008;74(5):737-45. doi: 10.1590/s0034-72992008000500016
Carvallo RMM. O efeito do reflexo estapediano no controle da passagem da informação sonora. In: Schochat, E. Processamento auditivo. 1a ed. São Paulo: Lovise; 1996. p.57-73
Meneguello J, Domenico MLD, Costa MCM, Leonhardt D, Barbosa LHF, Pereira LD. Ocorrência de reflexo acústico alterado em desordens do processamento auditivo. Rev Bras Otorrinolaringol. 2001;67(6):830-5. doi: 10.1590/s0034-72992001000600012
Fernandes LCBC, Gil D, Maria SLS, Azevedo MF. Potencial evocado auditivo de tronco encefálico por via óssea em indivíduos com perda auditiva sensorioneural. Rev CEFAC. 2013;15(3):538-45. doi: 10.1590/s1516-18462012005000018
Curado NRPV, Muniz LF, Silveira AK, Silva ARA, Griz SMS. Potencial evocado auditivo de tronco encefálico por condução óssea: uma revisão integrativa. Rev CEFAC. 2015;17(2):635-47. doi: 10.1590/1982-021620155714
Sanfins MD, Donadon C, Borges LR, Skarzynski PH, Colella-Santos MF. Long-term effects of unilateral and bilateral otitis media and myringotomy on long-latency verbal and non-verbal auditory-evoked potentials. Int Arch Otorhinolaryngol. 2020;24(4):413-22. doi: 10.1055/s-0039-1697006
Farias LS, Toniolo IF, Cóser PL. P300: avaliação eletrofisiológica da audição em crianças sem e com repetência escolar. Rev Bras Otorrinolaringol. 2004;70(2):194-9. doi: 10.1590/s0034-72992004000200009
Berticelli AZ, Bueno CD, Rocha VO, Ranzan J, Riesgo RDS, Sleifer P. Central auditory processing: behavioral and electrophysiological assessment of children and adolescents diagnosed with stroke. Braz J Otorhinolaryngol. 2019. doi: 10.1016/j.bjorl.2019.10.010
Matas CG, Silva FBL, Carrico B, Leite RA, Magliaro FCL. Potenciais evocados auditivos de longa latência em campo sonoro em crianças audiologicamente normais. Audiol Commun Res. 2015;20(4):305-312. doi: 10.1590/2317-6431-2014-1525
Junqueira CA, Frizzo ACF. Potenciais evocados auditivos de curta, média e longa latência. In: Aquino AMCM, org. Processamento auditivo-eletrofisiologia e psicoacústica. São Paulo: Lovise; 2002. p.63-85.
Andrade KCL, Pinheiro NS, Carnaúba ATL, Menezes PL. Potencial Evocado Auditivo de Tronco Encefálico: conceitos e aplicações clínicas. In: Menezes PL. et al. Tratado de Eletrofisiologia para a Audiologia. Ribeirão Preto: Book Toy; 2018. p.73-83.
Gregory L, Rosa RF, Zen PR, Sleifer P. Auditory evoked potentials in children and adolescents with Down syndrome. Am J Med Genet Part A, 2018;176(1):68-74. doi: 10.1002/ajmg.a.38520
Year 2019 Position Statement: Principles and guidelines for early hearing detection and intervention programs. Journal of Early Hearing Detection and Intervention. 2019;4(2):1-44. doi: 10.15142/fptk-b748
Monteiro TR, Rocha-Muniz CN, Filippini R, Morais AA, Schochat E. The influence of oral language environment on auditory development. Inter J Pediat Otorhinolaryngol. 2020;139:110426. doi: 10.1016/j.ijporl.2020.110426
Roberts J, Hunter L, Gravel J, Rosenfeld R, Berman S, Haggard M, et al. Otitis media, hearing loss, and language learning: controversies and current research. Dev Behav Pediat. 2004;25(2):110-22. doi: 10.1097/00004703-200404000-00007
Cardoso M. Fonoaudiologia na infância. Rio de Janeiro: Thieme Revinter; 2013. p. 171-194.
Borges LR, Sanfins MD, Hein TA, Paschoal JR, Colella-Santos MF. Achados audiológicos e comportamentais em crianças submetidas à miringoplastia bilateral - um estudo comparativo. Revista CEFAC. 2016;18(4):881-8. doi: 10.1590/1982-021620161843216
Rocha MFB. O mascaramento nos potenciais evocados auditivos corticais com estímulo de fala [Dissertação] [cited 2022 Jan 12]. Recife: Universidade Federal de Pernambuco, 2020. Available from: https://repositorio.ufpe.br/handle/123456789/38752
Published
Issue
Section
License
Copyright (c) 2023 Otília Valéria Melchiors Angst, Rafael Fabiano Machado Rosa, Paulo Ricardo Gazzola Zen, Pricila Sleifer
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors are authorized for non-exclusive distribution of the version of the work published in this journal (eg, publishing in an institutional repository or as a book chapter), with acknowledgment of authorship and initial publication in this journal.