Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome
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. O...
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| Published in: | International Archives of Otorhinolaryngology Vol. 28; no. 3; pp. e502 - e508 |
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| Format: | Journal Article |
| Language: | English |
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Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil
Thieme Revinter Publicações Ltda
01-07-2024
Fundação Otorrinolaringologia |
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| Abstract | 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. |
|---|---|
| AbstractList | 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. 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. 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. 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. 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. |
| Author | Nascimento, Jacqueline Aquino do Samelli, Alessandra Gianella Matas, Carla Gentile Silva, Liliane Aparecida Fagundes |
| AuthorAffiliation | 1 Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil |
| AuthorAffiliation_xml | – name: 1 Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil – name: Universidade de São Paulo |
| Author_xml | – sequence: 1 givenname: Jacqueline Aquino do orcidid: 0000-0001-8646-6335 surname: Nascimento fullname: Nascimento, Jacqueline Aquino do email: jacqueline.nascimento@usp.br organization: Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP) Rua Cipotânea 51 – Cidade Universitária, São Paulo – SP – sequence: 2 givenname: Liliane Aparecida Fagundes orcidid: 0000-0001-8985-0447 surname: Silva fullname: Silva, Liliane Aparecida Fagundes organization: Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil – sequence: 3 givenname: Alessandra Gianella orcidid: 0000-0002-7164-8942 surname: Samelli fullname: Samelli, Alessandra Gianella organization: Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil – sequence: 4 givenname: Carla Gentile orcidid: 0000-0002-9408-7172 surname: Matas fullname: Matas, Carla Gentile organization: Department of Physical, Speech-Language-Hearing, and Occupational Therapies, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil |
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| Cites_doi | 10.1016/j.ejmg.2013.07.001 10.1016/j.ejmg.2021.104163 10.1515/JBCPP.2008.19.3-4.193 10.1002/ajmg.c.30262 10.1016/j.jpeds.2010.07.056 10.1038/ejhg.2014.188 10.1016/j.heares.2010.10.004 10.4161/cib.4.2.14491 10.1177/088307380201700406 10.1093/bmb/63.1.223 10.1002/ajmg.a.30970 10.1016/S0022-3476(88)80272-5 10.1016/j.ijporl.2014.08.010 10.1212/01.wnl.0000196643.35395.5f 10.1002/ajmg.a.30400 10.2310/7070.2001.20811 10.1080/09297040490909288 10.1002/ajmg.a.35241 |
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| Keywords | hearing hearing loss Williams syndrome |
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Bellugi, U – volume: 10 start-page: 371 year: 1958 end-page: 375 article-title: The ten-twenty electrode system of the International Federation publication-title: Eletroenceph Clin Neurophisiol contributor: fullname: Jasper, HH – volume: 66 start-page: 390 issue: 03 year: 2006 end-page: 395 article-title: Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities publication-title: Neurology contributor: fullname: Gothelf, D; Farber, N; Raveh, E; Apter, A; Attias, J – year: 2010 publication-title: Estatística Básica contributor: fullname: Bussab, WO; Morettin, PA – volume: 63 start-page: 223 year: 2002 end-page: 241 article-title: Otoacoustic emissions, their origin in cochlear function, and use publication-title: Br Med Bull contributor: fullname: Kemp, DT – volume: 4 start-page: 208 issue: 02 year: 2011 end-page: 210 article-title: Linking LIMK1 deficiency to hyperacusis and progressive hearing loss in individuals with Williams syndrome publication-title: Commun Integr Biol contributor: fullname: Matsumoto, N; Kitani, R; Kalinec, F – volume: 34 issue: 03 year: 2022 article-title: Audiological profile and cochlear functionality in Williams syndrome publication-title: CoDAS contributor: fullname: Silva, LAF; Kawahira, RSH; Kim, CA; Matas, CG – volume: 30 start-page: 90 issue: 02 year: 2001 end-page: 92 article-title: Hyperacusis in Williams syndrome publication-title: J Otolaryngol contributor: fullname: Johnson, LB; Comeau, M; Clarke, KD – start-page: 318 year: 2005 end-page: 327 article-title: Sensorineural hearing loss in children and adults with Williams syndrome publication-title: Am J Med Genet Part A contributor: fullname: Marler, JA; Elfenbein, JL; Ryals, BM; Urban, Z; Netzloff, ML – volume: 272 start-page: 157 issue: 1-2 year: 2011 end-page: 167 article-title: Cochlear active mechanisms in young normal-hearing subjects affected by Williams syndrome: time-frequency analysis of otoacoustic emissions publication-title: Hear Res contributor: fullname: Paglialonga, A; Barozzi, S; Brambilla, D – volume: 56 start-page: 490 issue: 09 year: 2013 end-page: 496 article-title: Audiological follow-up of 24 patients affected by Williams syndrome publication-title: Eur J Med Genet contributor: fullname: Barozzi, S; Soi, D; Spreafico, E – volume: 158A start-page: 759 issue: 04 year: 2012 end-page: 771 article-title: Audiological findings in Williams syndrome: a study of 69 patients publication-title: Am J Med Genet A contributor: fullname: Barozzi, S; Soi, D; Comiotto, E – volume: 78 start-page: 1861 issue: 11 year: 2014 end-page: 1865 article-title: Analysis of subtle auditory dysfunctions in young normal-hearing subjects affected by Williams syndrome publication-title: Int J Pediatr Otorhinolaryngol contributor: fullname: Paglialonga, A; Barozzi, S; Brambilla, D – volume: 158 start-page: 301 issue: 02 year: 2011 end-page: 306 article-title: A comparative study of hearing loss in two microdeletion syndromes: velocardiofacial (22q11.2 deletion) and Williams (7q11.23 deletion) syndromes publication-title: J Pediatr contributor: fullname: Zarchi, O; Attias, J; Raveh, E; Basel-Vanagaite, L; Saporta, L; Gothelf, D – start-page: 44 year: 1997 end-page: 52 publication-title: Auditory diagnosis: principles and applications contributor: fullname: Silman, S; Silverman, CA; Silman, S; Silverman, CA – volume: 113 start-page: 318 issue: 02 year: 1988 end-page: 326 article-title: Natural history of Williams syndrome: physical characteristics publication-title: J Pediatr contributor: fullname: Morris, CA; Demsey, SA; Leonard, CO; Dilts, C; Blackburn, BL – volume: 154C start-page: 249 issue: 02 year: 2010 end-page: 265 article-title: Auditory function and hearing loss in children and adults with Williams syndrome: cochlear impairment in individuals with otherwise normal hearing publication-title: Am J Med Genet C Semin Med Genet contributor: fullname: Marler, JA; Sitcovsky, JL; 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Introduction
Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated... Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated conductive... Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated... Abstract Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ~ 28 genes. Studies have demonstrated... Introduction Williams syndrome (WS) is a genetic disorder caused by a microdeletion in chromosome 7, affecting ∼ 28 genes. Studies have demonstrated conductive... |
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| SubjectTerms | hearing hearing loss Original Research OTORHINOLARYNGOLOGY Williams syndrome |
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| Title | Peripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome |
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