TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, 1450, Nesodden, Norway.
Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Orphanet J Rare Dis. 2021 Nov 4;16(1):468. doi: 10.1186/s13023-021-02095-7.
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.
This population-based study investigated the prevalence, severity, and type of hearing loss in Norwegian adults with achondroplasia.
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.
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).
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.
软骨发育不全是最常见的不成比例骨骼发育不良形式。这种情况是由 FGFR3 基因突变引起的，影响软骨内骨生长，包括颅面解剖结构。复发性中耳炎感染、慢性中耳积液和听力损失在软骨发育不全儿童中很常见，但很少有研究调查这种情况下成年人的听力损失。
这项基于人群的研究调查了挪威软骨发育不全成年人的听力损失患病率、严重程度和类型。
我们收集了 45 名经基因证实的软骨发育不全成年人的数据：23 名男性和 22 名女性，年龄 16-70 岁。所有参与者都接受了全面的听力学评估，包括病史、纯音听力测试、言语听力测试和阻抗听力测试。根据全球疾病负担分类，纯音平均≥20 分贝听力水平（dB HL）被认为是临床上有意义的听力损失。
44%（20/45）的参与者接受了通气管插入术，49%（22/45）有腺样体切除术史，20%（9/45）使用助听器。45 名参与者中有 53%（24/45）至少一只耳朵有听力损失；23 名男性中有 57%（13/23），22 名女性中有 50%（11/22）。在年龄最小的年龄组（16-44 岁），50%（14/28）有听力损失，尽管主要是轻度（20-34 dB HL）。71%（32/45）的参与者出现异常鼓室图（B 型或 C 型）。大多数（15/24）有传导性听力损失，或传导性和感音神经性听力损失的组合（8/24）。
软骨发育不全的成年人听力损失的风险增加。我们的研究结果强调了定期听力评估作为软骨发育不全标准护理的一部分的重要性，包括青少年和年轻人。对于诊断为听力损失的成年患者，应考虑由耳鼻喉科医生进行评估，并应讨论助听器、助听设备以及工作场所和教育场所的适应需求。
ClinicalTrials.gov 标识符 NCT03780153。
