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CC BY 4.0 · Int Arch Otorhinolaryngol 2024; 28(04): e626-e633
DOI: 10.1055/s-0044-1788001
Original Research

Audiological Characterization of Individuals with Cornelia de Lange Syndrome[*]

Nayara Pereira Santos 
1   Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil
,
Liliane Aparecida Fagundes Silva 
1   Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil
,
Ivone Ferreira Neves-Lobo 
1   Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil
,
Chong Ae Kim 
2   Department of Genetics, Instituto da Criança e do Adolescente, Hospital das Clínicas, School of Medicine, Universidade de São Paulo (HCFMUSP), São Paulo, SP, Brazil
,
Carla Gentile Matas 
1   Department of Physiotherapy, Speech Therapy, and Occupational Therapy, School of Medicine, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil
› Author Affiliations Funding The authors declare that the present study was financed in part by Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) under finance code 001.
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Abstract

Introduction Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate.

Objective To characterize the audiological profile of individuals with CdLS through behavioral, electroacoustic, and electrophysiological audiological assessments.

Methods The study included 13 individuals of both sexes, aged between 3 and 26 years, with diagnoses confirmed through genetic studies. The following procedures were performed: medical history survey, otoscopy (pure-tone audiometry [PTA], speech audiometry, and acoustic immittance measures), and auditory brainstem response (ABR).

Results In total 62.50% of the participants who underwent PTA had abnormal results (all of which were mild), with a predominance of bilateral conductive hearing loss (60%). Regarding tympanometry, 76.93% had abnormal results, most frequently type B (85.72% on the right and 88.89% on the left ear). Acoustic reflexes showed results compatible with tympanometry changes. Changes in ABR latency values compatible with middle-ear impairment were found in 8 of them (66.66%) – 3 had bilateral (37.50%), and 5 had unilateral impairments (62.50%).

Conclusion Mild hearing loss was identified in 62.5% of the individuals with CdLS who underwent the behavioral audiological assessment. In the acoustic immittance measures, 76.9% of the participants presented a tympanometry curve characteristic of middle-ear changes. Acoustic reflexes were absent in 84.6% of the subjects. In the ABR, no changes were identified in auditory pathway integrity. On the other hand, changes in the absolute latency values were found, which are characteristic of conductive hearing loss.

Keywords

hearing - hearing loss - brainstem auditory evoked potentials - Cornelia de Lange syndrome

Authors' Contributions

NPS: patient recruitment, data collection and analysis, and drafting of the manuscript. LAFS and IFN-L: analysis and interpretation of results, and critical revision of the article. CAK and CGM: research orientation, analysis and interpretation of results, and critical revision of the article.


Data Availability Statement

The data that support the findings of the present study are available upon request to the corresponding author. The data are not publicly available due to privacy or ethical restrictions.


* Study conducted at the Department of Physiotherapy, Speech Therapy, and Occupational Therapy, Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, SP, Brazil.




Publication History

Received: 24 May 2023

Accepted: 15 April 2024

Article published online:
25 October 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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