PP1301 - Audiological Characterization in Individuals with Cornelia de Lange Syndrome

Posters

Location: Halls 4EF

Lead Presenter(s)

MM

Maria Vanderléia Araujo Araujo Maximiano, PhD student

Student
University of São Paulo
São Paulo

Financial Disclosures: I do not have any relevant financial relationships with anything to disclose.
Non-Financial Disclosures: I do not have any relevant non-financial relationships with anything to disclose.

PDF Slides

Presenter(s)

NS

Nayara Pereira P. Santos, MA (she/her/hers)

Graduate Student
Faculty of Medicine, University of São Paulo
São Paulo, Sao Paulo, Brazil

Financial Disclosures: I do not have any relevant financial relationships with anything to disclose.
Non-Financial Disclosures: I do not have any relevant non-financial relationships with anything to disclose.
IN

Ivone Ferreira Neves-Lobo, PhD (she/her/hers)

Audiologist
Universidade de São Paulo
Universidade de São Paulo
São Paulo

Financial Disclosures: I do not have any relevant financial relationships with anything to disclose.
Non-Financial Disclosures: I do not have any relevant non-financial relationships with anything to disclose.
CK

Chong Ae Kim, PhD

University of São Paulo

Financial Disclosures: I do not have any relevant financial relationships with anything to disclose.
Non-Financial Disclosures: I do not have any relevant non-financial relationships with anything to disclose.
CM

Carla Gentile G. Matas, PhD (she/her/hers)

Professor
University of São Paulo
São Paulo

Financial Disclosures: I do not have any relevant financial relationships with anything to disclose.
Non-Financial Disclosures: I do not have any relevant non-financial relationships with anything to disclose.

Abstract:
The present study verified pure-tone threshold audiometry, speech audiometry, acoustic immittance measures, and auditory brainstem response (ABR) in individuals with Cornelia de Lange Syndrome (CdLS) age range 3 to 26 years. Individuals with CdLS had higher occurrences of alterations in pure-tone threshold audiometry, acoustic immittance measures and ABR with a predominance of bilateral conductive hearing loss. There is evidence of the need for further studies on the contribution of ABR to characterize the audiological profile of individuals with Cornelia de Lange Syndrome.

Summary:
Rationale/purpose: To characterize the audiological profile of individuals with Cornelia de Lange Syndrome (CdLS) with behavioral, electroacoustic, and electrophysiological audiological assessments.

Methods: Thirteen individuals participated in this research, nine males and four females, aged 3 to 26 years, with diagnoses confirmed with genetic studies. The following procedures were performed: medical history survey, otoscopy [pure-tone threshold audiometry (PTA), speech audiometry, and acoustic immittance measures], and auditory brainstem response (ABR).

Results: In PTA, 62.50% of participants who underwent the exam had abnormal results, with a predominance of bilateral conductive hearing loss (60%), all of which were mild. 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 were compatible with middle ear impairment were found in eight of them (66.66%) – three had bilateral (37.50%) and five had unilateral impairments (62.50%).

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

Learning Objectives:

To describe the contribution behavioral, electroacoustic, and electrophysiological audiological assessments in the differential diagnosis of individuals with Cornelia de Lange Syndrome.