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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| Format: | Article |
| Language: | English |
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BMC
2021-11-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-021-02095-7 |
| _version_ | 1819198984793620480 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-23T03:09:08Z |
| format | Article |
| id | doaj.art-710ece34402741c09e034495a13b5d7f |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-23T03:09:08Z |
| publishDate | 2021-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-710ece34402741c09e034495a13b5d7f2022-12-21T18:02:15ZengBMCOrphanet Journal of Rare Diseases1750-11722021-11-011611810.1186/s13023-021-02095-7Hearing loss in Norwegian adults with achondroplasiaSvein O. Fredwall0Björn Åberg1Hanne Berdal2Ravi Savarirayan3Jorunn Solheim4TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation HospitalDepartment of Hearing, Lovisenberg Diaconal HospitalDepartment of Hearing, Lovisenberg Diaconal HospitalVictorian Clinical Genetics Services, Murdoch Children’s Research Institute, University of MelbourneDepartment of Hearing, Lovisenberg Diaconal HospitalAbstract 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.https://doi.org/10.1186/s13023-021-02095-7Hearing lossAudiometryTympanometryImpedance audiometryCraniofacial abnormalities |
| spellingShingle | Svein O. Fredwall Björn Åberg Hanne Berdal Ravi Savarirayan Jorunn Solheim Hearing loss in Norwegian adults with achondroplasia Orphanet Journal of Rare Diseases Hearing loss Audiometry Tympanometry Impedance audiometry Craniofacial abnormalities |
| title | 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_short | Hearing loss in Norwegian adults with achondroplasia |
| title_sort | hearing loss in norwegian adults with achondroplasia |
| topic | Hearing loss Audiometry Tympanometry Impedance audiometry Craniofacial abnormalities |
| url | https://doi.org/10.1186/s13023-021-02095-7 |
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