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. 2025 Feb;282(2):765-771.
doi: 10.1007/s00405-024-08983-5. Epub 2024 Sep 27.

Hearing impairment amongst people with Osteogenesis Imperfecta in Germany

A Felicio-Briegel  1 , J Müller  2 , M Pollotzek  2 , M Neuling  2 , D Polterauer  2 , S Gantner  2 , J Simon  3 , I Briegel  4 , F Simon  2
Affiliations

Hearing impairment amongst people with Osteogenesis Imperfecta in Germany

A Felicio-Briegel et al. Eur Arch Otorhinolaryngol. 2025 Feb.

Abstract

Introduction: Hearing impairment concerns a relevant percentage of individuals with Osteogenesis Imperfecta (OI). When looking at the current literature, the percentage of affected individuals with OI varies greatly from 32 to 58% of patients having mild OI and 21% to 27% of patients having moderate to severe OI. Little is known about the German population with OI.

Method: The goal of this study was to detect how many patients with OI, who visited the annual meeting of the German Association for Osteogenesis Imperfecta in 2023, proved to have a hearing impairment. In this prospective, cross-sectional study, each included individual obtained ear microscopy, audiometry, stapedius reflexes, tympanometry, and OAEs. Furthermore, each patient was asked a set of questions concerning the medical history.

Results: Of the included patients, 33% had hearing impairment. A significant difference was found for the mean air-bone gap (ABG) as well as the hearing threshold of the right ears. The difference was found between OI type III and IV (p = 0.0127) for the mean ABG and OI type I and IV (p = 0.0138) as well as III and IV (p = 0.0281) for the hearing threshold. Spearman's rank correlation showed a high correlation between age and hearing threshold. Of the patients between 40 and 50 years old, 56% had hearing loss.

Conclusion: Hearing loss in individuals with OI is still a relevant problem, especially age-related in OI type I. Audiometry should be performed at least when individuals experience subjective hearing loss. The implementation of a screening starting at 40 years should be discussed and studied.

Keywords: Auditory system; Hearing impairment; Hearing loss; Osteogenesis imperfecta.

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Conflict of interest statement

Declarations. Conflict of interest: The authors declare no conflict of interest. The authors have no relevant financial or non-financial interests to disclose. Institutional review board statement: The study was conducted in accordance with the Declaration of Helsinki, and approved by the Ethics Committee of University Hospital, LMU Munich (protocol code 22–0357 and date of approval 17.05.2022). Informed consent statement: Informed consent was obtained from all subjects involved in the study.

Figures

Fig. 1
Fig. 1
The eardrum of two individuals with OI type III (sub-Figs. a and b) as well as of one individual with OI type I (sub-Fig. c)
Fig. 2
Fig. 2
Boxplot of hearing threshold and mean ABG by type of OI. Explanation of boxes: thick black line = median; box boundaries = 25th and 75th percentiles; whiskers = minimum and maximum; circles = outliers. OI = Osteogenesis Imperfecta; dB = decibel; ABG = air-bone-gap; * = significant difference
Fig. 3
Fig. 3
Spearman correlation plot for mean hearing threshold of right ears (subfigure a) and left ears (subfigure b) by age. Rho and p are specified underneath the title
See this image and copyright information in PMC

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