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Questionário sobre acondroplasia
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topo hearing ba 2

A recent study1 (published November 2021 in the Orphanet Journal of Rare Diseases) investigates the prevalence, severity and type of hearing loss in Norwegian adults with achondroplasia. Recurrent otitis media infections, chronic middle ear effusion, and hearing loss are common in children with achondroplasia (about 70%)2,3,4, yet few studies have investigated hearing loss in adults with this condition5,6.


In children, hearing loss can cause speech delays and learning problems7. In adults, hearing loss impairs communication and may cause social isolation, reduced employment opportunities, activity limitations and reduced quality of life8.


The study was led by researchers from the University of Oslo, the TRS National Resource Centre for Rare Disorders (Nesodden, Norway), the Lovisenberg Diaconal Hospital (Oslo) and the University of Melbourne, Australia.


How was the study designed?
Data from 45 adults with achondroplasia (23 men and 22 women) aged between 16 and 70 years were analysed. All participants underwent a comprehensive audiological assessment, including medical history, pure-tone audiometry, speech audiometry, and impedance audiometry. According to the Global Burden of Disease Classification, a pure-tone average of 20 decibels of hearing level (dB HL) or less is considered clinically significant hearing loss.

 

 

Variables

All

Men

Women

Age (%)

37.7 (16.6)

39.1 (17.6)

36.2 (15.8)

Height (%)

133.1 (9.1)

137.0 (8.7)

129.1 (7.8)

Single/lives alone (%)

33 (73)

17 (74)

16 (73)

Works/student (%)

28 (62)

13 (57)

15 (68)

Medical History

Acute otitis in childhood (%)

37 (82)

17 (74)

20 (91)

Acute otitis in adulthood (%)

10 (22)

5 (22)

5 (23)

History of ventilation tubes (%)

20 (44)

11 (48)

9 (41)

Adenoidectomy (%)

22 (49)

12 (52)

10 (46)

Using hearing aid (%)

9 (20)

4 (17)

5 (23)

 

 

Characteristic craniofacial abnormalities of achondroplasia — midface hypoplasia, short eustachian tubes, small pharynx and enlarged tonsils and adenoids — increase the risk of middle ear disease and hearing loss.



Results


- More than half of the Norwegian adults with achondroplasia had hearing loss in, at least one ear, including half of the younger age group (16-44 years).

- There was no considerable difference between men and women.

- Most had conductive hearing loss. An abnormal tympanogram (a hearing test to determine the mobility of the tympano-ossicular system of the middle ear, based on pressure variations in the external auditory canal) was detected in at least one ear in more than 70% of the participants. 


Conclusions: clinical implications of the results

- The study demonstrated a high prevalence of hearing loss in adults with achondroplasia, with emphasis on the high prevalence of hearing loss in young people with this condition.

- These results highlight the importance of regular hearing assessment and appropriate follow-up of acute and chronic middle ear disease during childhood.

- There should also be referral to an otorhinolaryngologist in cases of recurrent otitis media, speech delay, or suspected chronic otitis media to decrease the risk of permanent hearing loss7.

- Hearing loss is underdiagnosed and undertreated in adults with achondroplasia and a hearing assessment is also important in adolescents and young adults with this condition9


Negative effects on Quality of Life:

  1. Hearing loss can have a negative effect on work and school results and compensation strategies are strenuous and can cause fatigue10.
  2. In adults diagnosed with hearing loss, an assessment by an otorhinolaryngologist should be considered and the need for hearing aids and accommodations in the workplace and educational setting should be discussed.
  3. The need for noise reduction measures should be considered, as well as flexibility regarding the organisation of the working day and tasks, the way meetings and dialogues at work are organised and the possibility of taking breaks when necessary10. This also applies to university students.

 

 

In 2019, hearing loss was the third leading cause of disability worldwide, with a global prevalence of 19%..8

 

 

References:

  1. Fredwall, S.O., et al. Hearing loss in Norwegian adults with achondroplasia. Orphanet J Rare Dis 16, 468 (2021). https://doi.org/10.1186/s13023-021-02095-7
  2. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998;35(9):705–12.
  3. Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012;97(2):129–34.
  4. Okenfuss E, Moghaddam B, Avins AL. Natural history of achondroplasia: a retrospective review of longitudinal clinical data. Am J Med Genet A. 2020;182:2540–51.
  5. Pauli RM. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis. 2019;14(1):1.
  6. Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: a scoping review. Clin Genet. 2020;97(1):179–97.
  7. Rosenfeld RM, Shin JJ, Schwartz SR, Coggins R, Gagnon L, Hackell JM, et al. Clinical practice guideline: otitis media with effusion (update). Otolaryngol Head Neck Surg. 2016;154(1 Suppl):1-s41.
  8. GBD 2019 Hearing Loss Collaborators. Hearing loss prevalence and years lived with disability. 1990-2019: findings from the Global Burden of Disease Study 2019. Lancet. 2021;397(10278):996–1009.
  9. Hoover-Fong J, Scott CI, Jnes MC. Health supervision for people with achondroplasia. Pediatrics. 2020;145(6):e20201010.
  10. Svinndal EV, Solheim J, Rise MB, Jensen C. Hearing loss and work participation: a cross-sectional study in Norway. Int J Audiol. 2018;57(9):646–56.
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Obrigado.