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 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.

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

“…Ear infections and hearing loss are common in children with achondroplasia, but recent evidence suggests the risks extend into adulthood [ 9 ]. Hearing loss affects around one in five people in the general population and has been ranked as the third largest cause of disability worldwide [ 47 ].…”

“…Hearing loss affects around one in five people in the general population and has been ranked as the third largest cause of disability worldwide [ 47 ]. In a population-based study on adults with achondroplasia, 43% of people aged 16–44 had mild loss in at least one ear, with no real difference between men and women [ 9 ]. This more than doubled prevalence emphasises the need for regular hearing assessments, even in younger patients.…”

Optimising care and follow-up of adults with achondroplasia

“…An increasing number of studies have emerged in recent years describing potential medical complications and impact on psychosocial health in adults. Among the most severe medical complications in adulthood are symptomatic spinal stenosis, obstructive sleep apnoea, hearing loss, hypertension, and obesity [13][14][15][16][17][18][19]. Reduced physical functioning, impaired ability to perform activities of daily living, reduced work participation, chronic pain, depression, anxiety, and low self-esteem are other challenges commonly reported in the adult achondroplasia population [14,[20][21][22][23].…”

“…17 Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar E Universitário de Coimbra, Coimbra, Portugal. 18 Faculty of Medicine, University Clinic of Genetics, Universidade de Coimbra, Coimbra, Portugal. 19 Newcastle Hospitals, Newcastle, UK.…”