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Otologic and audiologic findings in 22q11.2 deletion syndrome

Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11.2 deletion syndrome. We conducted a retrospective cohort study in a single tertiary referral center. We reviewed medical files of all patients with...

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Autores principales: Verheij, E., Kist, A. L., Mink van der Molen, A. B., Stegeman, I., van Zanten, G. A., Grolman, W., Thomeer, H. G. X. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5281677/
https://www.ncbi.nlm.nih.gov/pubmed/27837421
http://dx.doi.org/10.1007/s00405-016-4365-y
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author Verheij, E.
Kist, A. L.
Mink van der Molen, A. B.
Stegeman, I.
van Zanten, G. A.
Grolman, W.
Thomeer, H. G. X. M.
author_facet Verheij, E.
Kist, A. L.
Mink van der Molen, A. B.
Stegeman, I.
van Zanten, G. A.
Grolman, W.
Thomeer, H. G. X. M.
author_sort Verheij, E.
collection PubMed
description Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11.2 deletion syndrome. We conducted a retrospective cohort study in a single tertiary referral center. We reviewed medical files of all patients with 22q11.2 deletion syndrome who visited an otolaryngologist, plastic surgeon or speech therapist, for audiologic or otologic features. Hearing loss was defined as a pure tone average (of 0.5, 1, 2, and 4 kHz) of >20 decibel hearing level. Audiograms were available for 102 of 199 included patients, out of which 163 ears were measured in the required frquencies (0.5–4 kHz). Median age at time of most recent audiogram was 7 years (range 3–29 years). In 62 out of 163 ears (38%), hearing loss was present. Most ears had conductive hearing loss (n = 58) and 4 ears had mixed hearing loss. The severity of hearing loss was most frequently mild (pure tone average of ≤40 decibel hearing level). In 22.5% of ears, otitis media with effusion was observed at time of most recent audiogram. Age was not related to mean air conduction hearing thresholds or to otitis media with effusion (p = 0.43 and p = 0.11, respectively). In conclusion, hearing loss and otitis media are frequently present in patients with 22q11.2 deletion syndrome. Moreover, our results suggest that children with 22q11.2 deletion syndrome remain susceptible for otitis media as they age.
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spelling pubmed-52816772017-02-13 Otologic and audiologic findings in 22q11.2 deletion syndrome Verheij, E. Kist, A. L. Mink van der Molen, A. B. Stegeman, I. van Zanten, G. A. Grolman, W. Thomeer, H. G. X. M. Eur Arch Otorhinolaryngol Otology Hearing loss is frequently present in the 22q11.2 deletion syndrome. Our aim was to describe the audiologic and otologic features of patients with 22q11.2 deletion syndrome. We conducted a retrospective cohort study in a single tertiary referral center. We reviewed medical files of all patients with 22q11.2 deletion syndrome who visited an otolaryngologist, plastic surgeon or speech therapist, for audiologic or otologic features. Hearing loss was defined as a pure tone average (of 0.5, 1, 2, and 4 kHz) of >20 decibel hearing level. Audiograms were available for 102 of 199 included patients, out of which 163 ears were measured in the required frquencies (0.5–4 kHz). Median age at time of most recent audiogram was 7 years (range 3–29 years). In 62 out of 163 ears (38%), hearing loss was present. Most ears had conductive hearing loss (n = 58) and 4 ears had mixed hearing loss. The severity of hearing loss was most frequently mild (pure tone average of ≤40 decibel hearing level). In 22.5% of ears, otitis media with effusion was observed at time of most recent audiogram. Age was not related to mean air conduction hearing thresholds or to otitis media with effusion (p = 0.43 and p = 0.11, respectively). In conclusion, hearing loss and otitis media are frequently present in patients with 22q11.2 deletion syndrome. Moreover, our results suggest that children with 22q11.2 deletion syndrome remain susceptible for otitis media as they age. Springer Berlin Heidelberg 2016-11-11 2017 /pmc/articles/PMC5281677/ /pubmed/27837421 http://dx.doi.org/10.1007/s00405-016-4365-y Text en © The Author(s) 2016 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Otology
Verheij, E.
Kist, A. L.
Mink van der Molen, A. B.
Stegeman, I.
van Zanten, G. A.
Grolman, W.
Thomeer, H. G. X. M.
Otologic and audiologic findings in 22q11.2 deletion syndrome
title Otologic and audiologic findings in 22q11.2 deletion syndrome
title_full Otologic and audiologic findings in 22q11.2 deletion syndrome
title_fullStr Otologic and audiologic findings in 22q11.2 deletion syndrome
title_full_unstemmed Otologic and audiologic findings in 22q11.2 deletion syndrome
title_short Otologic and audiologic findings in 22q11.2 deletion syndrome
title_sort otologic and audiologic findings in 22q11.2 deletion syndrome
topic Otology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5281677/
https://www.ncbi.nlm.nih.gov/pubmed/27837421
http://dx.doi.org/10.1007/s00405-016-4365-y
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