CoDAS
https://www.codas.org.br/article/doi/10.1590/2317-1782/20212021041
CoDAS
Artigo Original

Audiological profile and cochlear functionality in Williams syndrome

O perfil audiológico e a funcionalidade coclear na síndrome de Williams

Liliane Aparecida Fagundes Silva; Rachel Sayuri Honjo Kawahira; Chong Ae Kim; Carla Gentile Matas

Downloads: 0
Views: 177

Abstract

Purpose: to evaluate cochlear functionality in Williams syndrome (WS) individuals. Methods: a study with 39 individuals, being 22 with WS aged between 7 and 17 years, 15 male and 7 female, and 17 individuals with typical development and normal hearing. All individuals were evaluated using pure tone audiometry, acoustic immittance measurements, and Transient Evoked Otoacoustic Emissions (TEOAE). The audiological profile in individuals with WS was analyzed, and TEOAE responses were compared between WS individuals without hearing loss and typical developmental individuals. Results: The hearing loss was observed in 50% of patients, being 78.95% sensorineural and 21.05% mixed. This hearing loss was predominantly mild to moderate, affecting mainly frequencies above 3 kHz. As for TEOAE, there was a higher incidence of absence and lower amplitude responses in individuals with WS. Conclusion: WS individuals have hair cell dysfunction, mainly in the basal region of the cochlea. Thus, TEOAE analysis is an important clinical resource to be considered in the routine audiological evaluation

Keywords

Williams Syndrome; Hearing loss; Cochlea; Audiology; Audiometry Pure-tone

Resumo

Objetivo: avaliar o perfil audiológico e a funcionalidade coclear em indivíduos com SW. Método: estudo com 39 indivíduos, sendo 22 indivíduos com SW com idade entre 7 e 17 anos, sendo 15 do sexo masculino e 7 do sexo feminino e 17 indivíduos com desenvolvimento típico e normo-ouvintes. Todos os indivíduos foram avaliados por meio da audiometria tonal limiar, medidas de imitância acústica e análise das Emissões Otoacústicas Transientes (EOAT). Foi avaliado o perfil audiológico dos indivíduos com SW, e também foram comparadas as respostas das EOAT entre os indivíduos com SW sem perda auditiva e indivíduos controles. Resultados: perda auditiva foi observada em 50% dos pacientes, sendo 78,95% neurossensorial e 21,05% mista. Esta perda foi predominantemente de grau leve a moderado, acometendo principalmente as frequências a partir de 3 kHz. Quanto às EOAT, observou-se maior incidência de ausência e de respostas de menor amplitude em indivíduos com SW. Conclusão: indivíduos com SW apresentam disfunção das células ciliadas, principalmente da região basal da cóclea. Assim, a análise das EOAT é um recurso clínico importante a ser considerada na avaliação audiológica de rotina.

Palavras-chave

Síndrome de Williams; Perda Auditiva; Cóclea; Audiologia; Audiometria de Tons Puros

Referências

1. Morris CA. Genetic aspects of supravalvular aortic stenosis. Curr Opin Cardiol. 1998;13(3):214-9. PMid:9649945.

2. Sugayama SMM, Leone C, Chauffainlle MLLF, Okay TC, Kim CA. Síndrome de Williams: proposta de sistema de pontuação para diagnóstico clínico. Clinics (São Paulo). 2007;62(2):159-66. http://dx.doi.org/10.1590/ S1807-59322007000200011. PMid:17505701.

3. Marler JA, Elfenbein JL, Ryals BM, Urban Z, Netzloff ML. Sensorineural hearing loss in children and adults with Williams syndrome. Am J Med Genet A. 2005;138(4):318-27. http://dx.doi.org/10.1002/ajmg.a.30970. PMid:16222677.

4. Gothelf D, Farber N, Raveh E, Apter A, Attias J. Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology. 2006;66(3):390-5. http://dx.doi.org/10.1212/01. wnl.0000196643.35395.5f. PMid:16476938.

5. Marler JA, Sitcovsky JL, Mervis CB, Kistler DJ, Wightman FL. Auditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing. Am J Med Genet C Semin Med Genet. 2010;154C(2):249-65. http://dx.doi. org/10.1002/ajmg.c.30262. PMid:20425785.

6. Zarchi O, Attias J, Raveh E, Basel-Vanagaite L, Saporta L, Gothelf D. A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) Syndromes. J Pediatr. 2011;158(2):301-6. http://dx.doi.org/10.1016/j. jpeds.2010.07.056. PMid:20846670.

7. Barozzi S, Soi D, Comiotto E, Borghi A, Gavioli C, Spreafico E, et al. Audiological findings in Williams syndrome: a study of 69 patients. Am J Med Genet A. 2012;158(4):759-71. http://dx.doi.org/10.1002/ajmg.a.35241. PMid:22411878.

8. Attias J. New findings on hyperacusis in Williams syndrome. ENT and Audiology News. 2013;21-6:76-8.

9. Matsumoto N, Kitani R, Kalinec F. Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome. Commun Integr Biol. 2011;4(2):208-10. http://dx.doi.org/10.4161/cib.4.2.14491. PMid:21655442.

10. Canales CP, Wong ACY, Gunning PW, Housley GD, Hardeman EC, Palmer SJ. The role of GTF2IRD1 in the auditory pathology of Williams–Beuren Syndrome. Eur J Hum Genet. 2015;23(6):774-80. http://dx.doi.org/10.1038/ ejhg.2014.188. PMid:25248400.

11. Carvallo RMM. Medidas eletroacústicas da Audição. A- Emissões Otoacústicas: Conceitos Básicos e Aplicações. In: Carvallo RMM. Fonoaudiologia informação para a formação: procedimentos em audiologia. Rio de Janeiro: Guanabara Koogan; 2003. p. 22-41.

12. Johnson LB, Comeau M, Clarke KD. Hyperacusis in Williams syndrome. J Otolaryngol. 2001;30(2):90-2. http://dx.doi.org/10.2310/7070.2001.20811. PMid:11770962.

13. Paglialonga A, Barozzi S, Brambilla D, Soi D, Cesarani A, Gagliardi C, et al. Cochlear active mechanisms in young normal-hearing subjects affected by Williams syndrome: time-frequency analysis of otoacoustic emissions. Hear Res. 2011;272(1-2):157-67. http://dx.doi.org/10.1016/j. heares.2010.10.004. PMid:20969939.

14. Jerger J. Clinical experience with impedance audiometry. Arch Otolaryngol. 1970;92(4):311-24. http://dx.doi.org/10.1001/archotol.1970.04310040005002. PMid:5455571.

15. Santos TM, Russo ICP. A prática da audiologia clínica. 3ª ed. São Paulo: Cortez; 1991.

16. Bedeschi MF, Bianchi V, Colli AM, Natacci F, Cereda A, Milani D, et al. Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients. Am J Med Genet A. 2011;155A(2):353-9. http://dx.doi.org/10.1002/ajmg.a.33819. PMid:21271653.

17. Barozzi S, Soi D, Spreafico E, Borghi A, Comiotto E, Gagliardi C, et al. Audiological follow-up of 24 patients affected by Williams syndrome. Eur J Med Genet. 2013;56(9):490-6. http://dx.doi.org/10.1016/j.ejmg.2013.07.001. PMid:23886711.

18. Attias J, Raveh E, Ben-Naftali NF, Zarchi O, Gothelf D. Hyperactive auditory efferent system and lack of acoustic reflexes in Williams syndrome. J Basic Clin Physiol Pharmacol. 2008;19(3-4):193-207. http://dx.doi.org/10.1515/ JBCPP.2008.19.3-4.193. PMid:19025031.

19. Yamashita D. Oxidative stress in noise-induced hearing loss. In: Miller J, Le Prell C, Rybak L, eds. Free radicals in ENT Pathology. Oxidative Stress in Applied Basic Research and Clinical Practice. Cham: Humana Press; 2015. p. 147-61. http://dx.doi.org/10.1007/978-3-319-13473-4_8.

20. Rabinowitz PM, Pierce Wise J Sr, Hur Mobo B, Antonucci PG, Powell C, Slade M. Antioxidant status and hearing function in noise-exposed workers. Hear Res. 2002;173(1-2):164-71. http://dx.doi.org/10.1016/ S0378-5955(02)00350-7. PMid:12372644.

21. Fortunato G, Marciano E, Zarrilli F, Mazzaccara C, Intrieri M, Calcagno G, et al. Paraoxonase and superoxide dismutase gene polymorphisms and noise-induced hearing loss. Clin Chem. 2004;50(11):2012-8. http://dx.doi. org/10.1373/clinchem.2004.037788. PMid:15345661.

22. Van Laer L, Carlsson PI, Ottschytsch N, Bondeson ML, Konings A, Vandevelde A, et al. The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss. Hum Mutat. 2006;27(8):786-95. http://dx.doi.org/10.1002/humu.20360. PMid:16823764.

23. Konings A, Van Laer L, Pawelczyk M, Carlsson PI, Bondeson ML, Rajkowska E, et al. Association between variations in CAT and noiseinduced hearing loss in two independent noise-exposed populations. Hum Mol Genet. 2007;16(15):1872-83. http://dx.doi.org/10.1093/hmg/ddm135. PMid:17567781.

24. Konings A, Van Laer L, Wiktorek-Smagur A, Rajkowska E, Pawelczyk M, Carlsson PI, et al. Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations. Ann Hum Genet. 2009;73(2):215-24. http://dx.doi.org/10.1111/j.1469-1809.2008.00499.x. PMid:19183343.

25. Matsune S, Sando I, Takahashi H. Elastin at the hinge portion of the eustachian tube cartilage in specimens from normal subjects and those with cleft palate. Ann Otol Rhinol Laryngol. 1992;101(2 Pt 1):163-7. http://dx.doi.org/10.1177/000348949210100211. PMid:1739263.

26. Kusuhara H, Isogai N, Enjo M, Otani H, Ikada Y, Jacquet R, et al. Tissue engineering a model for the human ear: assessment of size, shape, morphology, and gene expression following seeding of different chondrocytes. Wound Repair Regen. 2009;17(1):136-46. http://dx.doi.org/10.1111/j.1524- 475X.2008.00451.x. PMid:19152661.

27. Paglialonga A, Barozzi S, Brambilla D, Soi D, Cesarani A, Spreafico E, et al. Analysis of subtle auditory dysfunctions in young normal-hearing subjects affected by Williams syndrome. Int J Pediatr Otorhinolaryngol. 2014;78(11):1861-5. http://dx.doi.org/10.1016/j.ijporl.2014.08.010. PMid:25193583.

28. Shah SM, Kang YJ, Christensen BL, Feng AS, Kollmar R. Expression of Wnt receptors in adult spiral ganglion neurons: frizzled 9 localization at growth cones of regenerating neurites. Neuroscience. 2009;164(2):478-87. http://dx.doi.org/10.1016/j.neuroscience.2009.08.049. PMid:19716861.

29. Safieddine S, Wenthold RJ. SNARE complex at the ribbon synapses of cochlear hair cells: analysis of synaptic vesicle- and synaptic membraneassociated proteins. Eur J Neurosci. 1999;11(3):803-12. http://dx.doi. org/10.1046/j.1460-9568.1999.00487.x. PMid:10103074.

621fc90fa95395397f333f53 codas Articles

CoDAS

Share this page
Page Sections