Hearing loss in Norwegian adults with achondroplasia

Abstract Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy. Recurrent otitis media infections, chronic middle ear effusion, and hear...

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Autores principales:	Svein O. Fredwall, Björn Åberg, Hanne Berdal, Ravi Savarirayan, Jorunn Solheim
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Hearing loss Audiometry Tympanometry Impedance audiometry Craniofacial abnormalities Medicine R
Acceso en línea:	https://doaj.org/article/710ece34402741c09e034495a13b5d7f
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spelling	oai:doaj.org-article:710ece34402741c09e034495a13b5d7f2021-11-08T10:57:03ZHearing loss in Norwegian adults with achondroplasia10.1186/s13023-021-02095-71750-1172https://doaj.org/article/710ece34402741c09e034495a13b5d7f2021-11-01T00:00:00Zhttps://doi.org/10.1186/s13023-021-02095-7https://doaj.org/toc/1750-1172Abstract Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy. Recurrent otitis media infections, chronic middle ear effusion, and hearing loss are common in children with achondroplasia, but few studies have investigated hearing loss in adults with this condition. Objectives This population-based study investigated the prevalence, severity, and type of hearing loss in Norwegian adults with achondroplasia. Methods We collected data on 45 adults with genetically confirmed achondroplasia: 23 men and 22 women, aged 16–70 years. All participants underwent a comprehensive audiologic assessment, including medical history, pure-tone audiometry, speech audiometry, and impedance audiometry. According to the Global Burden of Disease classification, pure-tone average ≥ 20 decibel hearing level (dB HL) was considered clinically significant hearing loss. Results Insertion of ventilation tubes had been performed in 44% (20/45) of the participants, 49% (22/45) had a history of adenoidectomy, while 20% (9/45) used hearing aids. Hearing loss in at least one ear was found in 53% (24/45) of the participants; in 57% (13/23) of the men and 50% (11/22) of the women. In the youngest age group (age 16–44 years), 50% (14/28) had hearing loss, although predominantly mild (20–34 dB HL). An abnormal tympanometry (Type B or C) was found in 71% (32/45) of the participants. The majority (15/24) had conductive hearing loss, or a combination of conductive and sensorineural hearing loss (8/24). Conclusions Adults with achondroplasia are at increased risk of early hearing loss. Our findings underline the importance of a regular hearing assessment being part of standard care in achondroplasia, including adolescents and young adults. In adult patients diagnosed with hearing loss, an evaluation by an otolaryngologist should be considered, and the need for hearing aids, assistive listening devices, and workplace and educational accommodations should be discussed. Clinical trial registration ClinicalTrials.gov identifier NCT03780153.Svein O. FredwallBjörn ÅbergHanne BerdalRavi SavarirayanJorunn SolheimBMCarticleHearing lossAudiometryTympanometryImpedance audiometryCraniofacial abnormalitiesMedicineRENOrphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Hearing loss Audiometry Tympanometry Impedance audiometry Craniofacial abnormalities Medicine R
spellingShingle	Hearing loss Audiometry Tympanometry Impedance audiometry Craniofacial abnormalities Medicine R Svein O. Fredwall Björn Åberg Hanne Berdal Ravi Savarirayan Jorunn Solheim Hearing loss in Norwegian adults with achondroplasia
description	Abstract Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. The condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth, including the craniofacial anatomy. Recurrent otitis media infections, chronic middle ear effusion, and hearing loss are common in children with achondroplasia, but few studies have investigated hearing loss in adults with this condition. Objectives This population-based study investigated the prevalence, severity, and type of hearing loss in Norwegian adults with achondroplasia. Methods We collected data on 45 adults with genetically confirmed achondroplasia: 23 men and 22 women, aged 16–70 years. All participants underwent a comprehensive audiologic assessment, including medical history, pure-tone audiometry, speech audiometry, and impedance audiometry. According to the Global Burden of Disease classification, pure-tone average ≥ 20 decibel hearing level (dB HL) was considered clinically significant hearing loss. Results Insertion of ventilation tubes had been performed in 44% (20/45) of the participants, 49% (22/45) had a history of adenoidectomy, while 20% (9/45) used hearing aids. Hearing loss in at least one ear was found in 53% (24/45) of the participants; in 57% (13/23) of the men and 50% (11/22) of the women. In the youngest age group (age 16–44 years), 50% (14/28) had hearing loss, although predominantly mild (20–34 dB HL). An abnormal tympanometry (Type B or C) was found in 71% (32/45) of the participants. The majority (15/24) had conductive hearing loss, or a combination of conductive and sensorineural hearing loss (8/24). Conclusions Adults with achondroplasia are at increased risk of early hearing loss. Our findings underline the importance of a regular hearing assessment being part of standard care in achondroplasia, including adolescents and young adults. In adult patients diagnosed with hearing loss, an evaluation by an otolaryngologist should be considered, and the need for hearing aids, assistive listening devices, and workplace and educational accommodations should be discussed. Clinical trial registration ClinicalTrials.gov identifier NCT03780153.
format	article
author	Svein O. Fredwall Björn Åberg Hanne Berdal Ravi Savarirayan Jorunn Solheim
author_facet	Svein O. Fredwall Björn Åberg Hanne Berdal Ravi Savarirayan Jorunn Solheim
author_sort	Svein O. Fredwall
title	Hearing loss in Norwegian adults with achondroplasia
title_short	Hearing loss in Norwegian adults with achondroplasia
title_full	Hearing loss in Norwegian adults with achondroplasia
title_fullStr	Hearing loss in Norwegian adults with achondroplasia
title_full_unstemmed	Hearing loss in Norwegian adults with achondroplasia
title_sort	hearing loss in norwegian adults with achondroplasia
publisher	BMC
publishDate	2021
url	https://doaj.org/article/710ece34402741c09e034495a13b5d7f
work_keys_str_mv	AT sveinofredwall hearinglossinnorwegianadultswithachondroplasia AT bjornaberg hearinglossinnorwegianadultswithachondroplasia AT hanneberdal hearinglossinnorwegianadultswithachondroplasia AT ravisavarirayan hearinglossinnorwegianadultswithachondroplasia AT jorunnsolheim hearinglossinnorwegianadultswithachondroplasia
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Hearing loss in Norwegian adults with achondroplasia

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