Hearing loss in Norwegian adults with achondroplasia

Svein O Fredwall, Björn Åberg, Hanne Berdal, Ravi Savarirayan, Jorunn Solheim, Svein O Fredwall, Björn Åberg, Hanne Berdal, Ravi Savarirayan, Jorunn Solheim

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.

Keywords: Audiometry; Craniofacial abnormalities; Hearing loss; Impedance audiometry; Tympanometry.

Conflict of interest statement

The authors have completed the ICMJE form and declare that they have no competing interests.

© 2021. The Author(s).

Figures

Fig. 1
Fig. 1
The figure displays the prevalence of hearing loss (≥ 20 dB hearing level) in participants with achondroplasia, by age groups, compared to the prevalence reported in the population-based Norwegian HUNT4 Hearing Study [17]. The prevalence of hearing loss was considerably higher in participants with achondroplasia compared to HUNT4 across all age groups, and particularly in the youngest participants. For achondroplasia participants > 64 years of age (n = 3), all had disabling hearing loss (≥ 35 dB HL), but due to the small sample size, comparison to HUNT4 was not possible for this age group. aParticipants with achondroplasia in the age group 16–44 years were compared to the age group 20–44 years in HUNT4

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