Evidence map›Paper›PMID 34736503›Full record

Observational studyOrphanet journal of rare diseases2021

Hearing loss in Norwegian adults with achondroplasia.

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

Registry-linked trialOpen access · goldAbstract readObservational Study
In one paragraph

Observational study in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03780153 (The Norwegian Adult Achondroplasia Study), which is not on this map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 22% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT03780153 completednot on this map

The Norwegian Adult Achondroplasia Study

TypeobservationalSponsorSunnaas Rehabilitation HospitalRan2017 to 2022Enrolled50ConditionsAchondroplasiaArmsNo intervention
3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Otologic Manifestations in Patients with Achondroplasia: A Multicenter Study.The journal of international advanced otology · 2024
    Article
  2. Article
  3. Optimising care and follow-up of adults with achondroplasia.Orphanet journal of rare diseases · 2022
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 3 institutions in 2 countries.

Svein O FredwallTRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, 1450, Nesodden, Norway. svfred@sunnaas.no.ORCID 0000-0002-2804-5783
Björn ÅbergDepartment of Hearing, Lovisenberg Diaconal Hospital, Oslo, Norway.
Hanne BerdalDepartment of Hearing, Lovisenberg Diaconal Hospital, Oslo, Norway.
Ravi SavarirayanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, Australia.
Jorunn SolheimDepartment of Hearing, Lovisenberg Diaconal Hospital, Oslo, Norway.
Lovisenberg Diakonale Høgskole · NOThe University of Melbourne · AUUniversity of Oslo · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAchondroplasia 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.

objectivesThis population-based study investigated the prevalence, severity, and type of hearing loss in Norwegian adults with achondroplasia.

methodsWe 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.

resultsInsertion 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).

conclusionsAdults 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.

Indexed as

AchondroplasiaDeafnessHearing LossHearing Loss, SensorineuralAcoustic Impedance TestsAdolescentAdultAgedAudiometry, Pure-ToneCross-Sectional StudiesFemaleHumansMaleMiddle AgedNorwayYoung AdultAudiometryCraniofacial abnormalitiesHearing lossImpedance audiometryTympanometry

Identifiers

PMID34736503
PMCPMC8570016
OpenAlexW3211308103

What OpenQuestion holds

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LicenceCC BY
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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.