Hostname: page-component-848d4c4894-r5zm4 Total loading time: 0 Render date: 2024-06-19T22:55:06.994Z Has data issue: false hasContentIssue false
  • English
  • Français

Longitudinal analysis of the audiological phenotype in osteogenesis imperfecta: a follow-up study

Published online by Cambridge University Press:  18 June 2018

S Martens ,
I J M Dhooge  and
F K R Swinnen
S Martens
Affiliation:
Department of Speech, Language and Hearing Sciences, Faculty of Medicine and Health Sciences, Ghent University, Belgium
I J M Dhooge
Affiliation:
Department of Otorhinolaryngology, Ghent University Hospital, Belgium
F K R Swinnen*
Affiliation:
Department of Otorhinolaryngology, Ghent University Hospital, Belgium
*
Author for correspondence: Dr Freya Swinnen, Department of Otorhinolaryngology (2P1), Ghent University Hospital, De Pintelaan 185, B-9000 Ghent, Belgium E-mail: Freya.Swinnen@UGent.be Fax: +32 9 332 49 93
Get access Rights & Permissions [Opens in a new window]

Abstract

Objective

This prospective study involved a longitudinal analysis of the progression of hearing thresholds in patients with osteogenesis imperfecta.

Methods

Audiometric results from 36 osteogenesis imperfecta patients (age range, 6–79 years) were compared between two test times with an average interval of 4 years. Audiometric evaluation included acoustic admittance measurements, acoustic stapedial reflex measurements, pure tone audiometry and otoacoustic emissions testing.

Results

Air conduction pure tone average, corrected for sex and age, and bone conduction pure tone average increased significantly in the study population (p < 0.05 and p < 0.001, respectively). In 14.3 per cent of the evaluated ears, an alteration in type and/or severity of hearing loss was observed.

Conclusion

After an average time interval of four years, significant changes in hearing status occurred in a population of osteogenesis imperfecta patients. These findings highlight the importance of regular audiological follow up in osteogenesis imperfecta patients, including audiometry, and measurements of acoustic admittance, acoustic stapedial reflexes and otoacoustic emissions.

Keywords

Osteogenesis ImperfectaHearing LossLongitudinal Studies
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 132 , Issue 8 , August 2018 , pp. 703 - 710
Copyright
Copyright © JLO (1984) Limited, 2018 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Footnotes

Dr F Swinnen takes responsibility for the integrity of the content of the paper

References

1Van Dijk, FS, Sillence, DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Genet A 2014;146A:1470–81Google Scholar
2Forlino, A, Marini, JC. Osteogenesis imperfecta. Lancet 2016;16:1657–71Google Scholar
3Sillence, DO, Senn, A, Danks, DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101–16Google Scholar
4Forlino, A, Cabral, WA, Barnes, AM, Marini, JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 2011;7:540–57Google Scholar
5Pedersen, U. Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients. Scand Audiol 1984;13:67–74Google Scholar
6Kuurila, K, Kaitila, I, Johansson, R, Grenman, R. Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey. Ann Otol Rhinol Laryngol 2002;111:939–46Google Scholar
7Swinnen, FK, Coucke, PJ, De Paepe, AM, Symoens, S, Malfait, F, Gentile, FV et al. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype. Orphanet J Rare Dis 2011;6:88Google Scholar
8Hartikka, H, Kuurila, K, Korkko, J, Kaitila, I, Grenman, R, Pynnonen, S et al. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. Hum Mutat 2004;24:147–54Google Scholar
9Riedner, ED, Levin, LS, Holliday, MJ. Hearing patterns in dominant osteogenesis imperfecta. Arch Otolaryngol 1980;106:737–40Google Scholar
10Shapiro, JR, Pikus, A, Weiss, G, Rowe, DW. Hearing and middle ear function in osteogenesis imperfecta. JAMA 1982;247:2120–6Google Scholar
11Stewart, EJ, O'Reilly, BF. A clinical and audiological investigation of osteogenesis imperfecta. Clin Otolaryngol Allied Sci 1989;14:509–14Google Scholar
12Paterson, CR, Monk, EA, McAllion, SJ. How common is hearing impairment in osteogenesis imperfecta? J Laryngol Otol 2001;115:280–2Google Scholar
13Pillion, JP, Shapiro, J. Audiological findings in osteogenesis imperfecta. J Am Acad Audiol 2008;19:595–601Google Scholar
14Swinnen, FK, Dhooge, IJ, Coucke, PJ, D'Eufemia, P, Zardo, F, Garretsen, TJ et al. Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation. Otol Neurotol 2012;33:115–22Google Scholar
15Kuurila, K, Grenman, R, Johansson, R, Kaitila, I. Hearing loss in children with osteogenesis imperfecta. Eur J Pediatr 2000;159:515–19Google Scholar
16Albahnasawy, L, Kishore, A, O'Reilly, BF. Results of stapes surgery on patients with osteogenesis imperfecta. Clin Otolaryngol Allied Sci 2001;26:473–6Google Scholar
17Swinnen, FK, Casselman, JW, De Leenheer, EM, Cremers, CW, Dhooge, I. Temporal bone imaging in osteogenesis imperfecta patients with hearing loss. Laryngoscope 2013;123:1988–95Google Scholar
18Garretsen, AJ, Cremers, CW, Huygen, PL. Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I. Ann Otol Rhinol Laryngol 1997;106:575–82Google Scholar
19Jerger, J. Clinical experience with impedance audiometry. Arch Otolaryngol 1970;92:311–24Google Scholar
20Fria, T, Leblanc, J, Kristensen, R, Alberti, PW. Ipsilateral acoustic reflex stimulation in normal and sensorineural impaired ears: a preliminary report. Can J Otolaryngol 1975;4:695–703Google Scholar
21International Organization for Standardization. ISO7029: Acoustics – Statistical Distribution of Hearing Thresholds as a Function of Age. Geneva: International Organization for Standardization, 2000Google Scholar
22Vinck, BM, De Vel, E, Xu, Z, Van Cauwenberge, PB. Distortion product otoacoustic emissions: a normative study. Int J Audiol 1996;35:231–45Google Scholar
23Keppler, H, Dhooge, I, Degeest, S, Vinck, B. The effects of a hearing education program on recreational noise exposure, attitudes and beliefs toward noise, hearing loss, and hearing protector devices in young adults. Noise Health 2015;17:253–62Google Scholar
24Degeest, S, Clays, E, Corthals, P, Keppler, H. Epidemiology and risk factors for leisure noise-induced hearing damage in Flemish young adults. Noise Health 2017;19:10–19Google Scholar