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CC BY 4.0 · Int Arch Otorhinolaryngol 2024; 28(03): e502-e508
DOI: 10.1055/s-0044-1785457
Original Research

Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome[*]

Jacqueline Aquino do Nascimento 
1   Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.
,
Liliane Aparecida Fagundes Silva 
1   Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.
,
Alessandra Gianella Samelli 
1   Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.
,
Carla Gentile Matas 
1   Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.
› Author Affiliations Funding The authors declare that they have received no grants from agencies in the public, private, or non-profits sectors for the conduction of the present study.
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Abstract

Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated conductive losses seemingly related to the absence of the elastin gene and mild to profound sensorineural losses due to cochlear fragility.

Objective To characterize and compare the peripheral auditory system and auditory brainstem response (ABR) of adults with WS and neurotypical adults matched by age and gender.

Methods We conducted a cross-sectional observational study with 30 individuals of both sexes, aged 18 to 37 years – 15 of them with WS (study group) and 15 with neither the syndrome nor hearing complaints (control group), matched for sex and age. The subjects underwent pure-tone and speech audiometry, acoustic immittance, transient-evoked otoacoustic emissions (TEOAEs), and ABR.

Results Early-onset sensorineural hearing loss was found in 53.3% of the study sample, mostly mild, occurring above 3 kHz. The TEOAEs were absent in 53.3% of assessed subjects; for those in whom they were present, the signal-to-noise responses were significantly lower than in the control group. In the ABR, increased absolute latencies were observed in waves I and III.

Conclusion Individuals with WS have early and progressive cochlear impairments, mainly affecting the basal region of the cochlea. They may have low brainstem changes which seem to begin in adulthood.

Keywords

Williams syndrome - hearing - hearing loss

Data Availability Statement

The data of the present study can be accessed upon reasonable request to the corresponding author.


* The present study was conducted at the Department of Physical, Speech-Language-Hearing, and Occupational Therapies of the School of Medicine of Universidade de São Paulo (FMUSP).




Publication History

Received: 04 July 2023

Accepted: 16 January 2024

Article published online:
05 July 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Morris CA, Demsey SA, Leonard CO, Dilts C, Blackburn BL. Natural history of Williams syndrome: physical characteristics. J Pediatr 1988; 113 (02) 318-326
    CrossrefPubMedGoogle Scholar
  • 2 Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol 2002; 17 (04) 269-271
    CrossrefPubMedGoogle Scholar
  • 3 Johnson LB, Comeau M, Clarke KD. Hyperacusis in Williams syndrome. J Otolaryngol 2001; 30 (02) 90-92 DOI: 10.2310/7070.2001.20811.
    CrossrefPubMedGoogle Scholar
  • 4 Cherniske EM, Carpenter TO, Klaiman C. et al. Multisystem study of 20 older adults with Williams syndrome. Am J Med Genet Part A. 2004. :255–64.
    CrossrefGoogle Scholar
  • 5 Levitin DJ, Cole K, Chiles M, Lai Z, Lincoln A, Bellugi U. Characterizing the musical phenotype in individuals with Williams Syndrome. Child Neuropsychol 2004; 10 (04) 223-247
    CrossrefPubMedGoogle Scholar
  • 6 Marler JA, Elfenbein JL, Ryals BM, Urban Z, Netzloff ML. Sensorineural hearing loss in children and adults with Williams syndrome. Am J Med Genet Part A. 2005. ;318–27.
    CrossrefGoogle Scholar
  • 7 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 (02) 249-265
    CrossrefPubMedGoogle Scholar
  • 8 Paglialonga A, Barozzi S, Brambilla D. 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): 157-167
    CrossrefPubMedGoogle Scholar
  • 9 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 (02) 301-306
    CrossrefPubMedGoogle Scholar
  • 10 Barozzi S, Soi D, Comiotto E. et al. Audiological findings in Williams syndrome: a study of 69 patients. Am J Med Genet A 2012; 158A (04) 759-771
    CrossrefPubMedGoogle Scholar
  • 11 Barozzi S, Soi D, Spreafico E. et al. Audiological follow-up of 24 patients affected by Williams syndrome. Eur J Med Genet 2013; 56 (09) 490-496
    CrossrefPubMedGoogle Scholar
  • 12 Fraga RB, Sleifer P, Machado Rosa RF, Gazola Zen PR. Peripheral and central auditory findings individuals with Williams syndrome. J Health Sci 2019; 9 (02) 86-93
    Google Scholar
  • 13 Silva LAF, Kawagira RSH, Kim CA, Matas CG. Abnormal auditory event-related potentials in Williams syndrome. Eur J Med Genet 2021; 64 (03) 104163 DOI: 10.1016/j.ejmg.2021.104163.
    CrossrefPubMedGoogle Scholar
  • 14 Silva LAF, Kawahira RSH, Kim CA, Matas CG. Audiological profile and cochlear functionality in Williams syndrome. CoDAS 2022; 34 (03) e20210041
    PubMedGoogle Scholar
  • 15 Paglialonga A, Barozzi S, Brambilla D. et al. Analysis of subtle auditory dysfunctions in young normal-hearing subjects affected by Williams syndrome. Int J Pediatr Otorhinolaryngol 2014; 78 (11) 1861-1865
    CrossrefPubMedGoogle Scholar
  • 16 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 (02) 208-210
    CrossrefPubMedGoogle Scholar
  • 17 Canales CP, Wong AC, 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 (06) 774-780 DOI: 10.1038/ejhg.2014.188.
    CrossrefPubMedGoogle Scholar
  • 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
    CrossrefPubMedGoogle Scholar
  • 19 Jerger J. Clinical experience with impedance audiometry. Arch Otolaringol 1970; 11 (03) 156-161
    Google Scholar
  • 20 Lloyd LL, Kaplan H. Audiometric interpretation: a manual of basic audiometry. University Park Press: Baltimore; 1978. . p. 16
    Google Scholar
  • 21 Silman S, Silverman CA. Basic audiologic testing. In: Silman S, Silverman CA. Auditory diagnosis: principles and applications. San Diego: Singular Publishing Group; 1997. . P.: 44-52
    Google Scholar
  • 22 Kemp DT. Otoacoustic emissions, their origin in cochlear function, and use. Br Med Bull 2002; 63: 223-241
    CrossrefPubMedGoogle Scholar
  • 23 Jasper HH. The ten-twenty electrode system of the International Federation. Eletroenceph Clin Neurophisiol 1958; 10: 371-375
    Google Scholar
  • 24 Bussab WO, Morettin PA. 2010. Estatística Básica (6ª Ed.). São Paulo: Saraiva;
    Google Scholar
  • 25 Field A. Discovering statistics using IBM SPSS statistics (5th ed.). Sage Publications; 2018. .p. 816
    Google Scholar
  • 26 Gothelf D, Farber N, Raveh E, Apter A, Attias J. Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology 2006; 66 (03) 390-395
    CrossrefPubMedGoogle Scholar