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Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients

Frederic Acke, FREYA SWINNEN, Fransiska Malfait UGent, Ingeborg Dhooge UGent and Els De Leenheer UGent (2016) EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. 273(10). p.3025-3034
abstract
Hearing loss in Stickler syndrome has received little attention due to the often more disabling ocular, orofacial and skeletal manifestations. Estimates suggest a global prevalence of sensorineural hearing loss (SNHL) ranging from 50 % to about 100 % though, depending on the underlying Stickler genotype. By performing extensive audiometric analysis in Stickler patients, we aimed to further elucidate the auditory phenotype. Twenty molecularly confirmed Stickler patients (age 10-62 year), of whom sixteen with type 1 Stickler syndrome (COL2A1 mutation) and four with type 2 Stickler syndrome (COL11A1 mutation) underwent an otological questionnaire, clinical examination, pure tone and speech audiometry, tympanometry and otoacoustic emission testing. Cross-sectional and longitudinal regression analysis of the audiograms was performed to assess progression. In type 1 Stickler syndrome, 75 % demonstrated hearing loss, predominantly in the high frequencies. No significant progression beyond presbyacusis was observed. All type 2 Stickler patients exhibited mild-to-moderate low- and mid-frequency SNHL and moderate-to-severe high-frequency SNHL. In both types, hearing loss was observed in childhood. Otoacoustic emissions were only detectable in 7/40 ears and had very low amplitudes, even in frequency bands with normal hearing on pure tone audiometry. Type 1 Stickler syndrome is characterized by a mild high-frequency SNHL, emerging in childhood and non-progressive. Absent otoacoustic emissions are a frequent finding. Patients with type 2 Stickler syndrome exhibit early-onset moderate SNHL affecting all frequencies with a sloping audiogram. Taking into account the visual impairment in many patients, we recommend regular auditory follow-up in patients with Stickler syndrome, especially in childhood.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
HEARING-LOSS, MESSENGER-RNA, COL11A1 GENE, MUTATIONS, GENOTYPE, DYSFUNCTION, IMPAIRMENT, EXPRESSION, COLLAGEN, COCHLEA, Stickler syndrome, Collagen, Hereditary hearing loss, COL2A1, COL11A1, Otoacoustic emissions
journal title
EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY
Eur. Arch. Oto-Rhino-Laryn.
volume
273
issue
10
pages
3025 - 3034
Web of Science type
Article
Web of Science id
000382945900020
JCR category
OTORHINOLARYNGOLOGY
JCR impact factor
1.66 (2016)
JCR rank
17/42 (2016)
JCR quartile
2 (2016)
ISSN
0937-4477
1434-4726
DOI
10.1007/s00405-016-3896-6
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
8510223
handle
http://hdl.handle.net/1854/LU-8510223
date created
2017-02-20 11:01:46
date last changed
2017-02-20 13:01:26
@article{8510223,
  abstract     = {Hearing loss in Stickler syndrome has received little attention due to the often more disabling ocular, orofacial and skeletal manifestations. Estimates suggest a global prevalence of sensorineural hearing loss (SNHL) ranging from 50 \% to about 100 \% though, depending on the underlying Stickler genotype. By performing extensive audiometric analysis in Stickler patients, we aimed to further elucidate the auditory phenotype. Twenty molecularly confirmed Stickler patients (age 10-62 year), of whom sixteen with type 1 Stickler syndrome (COL2A1 mutation) and four with type 2 Stickler syndrome (COL11A1 mutation) underwent an otological questionnaire, clinical examination, pure tone and speech audiometry, tympanometry and otoacoustic emission testing. Cross-sectional and longitudinal regression analysis of the audiograms was performed to assess progression. In type 1 Stickler syndrome, 75 \% demonstrated hearing loss, predominantly in the high frequencies. No significant progression beyond presbyacusis was observed. All type 2 Stickler patients exhibited mild-to-moderate low- and mid-frequency SNHL and moderate-to-severe high-frequency SNHL. In both types, hearing loss was observed in childhood. Otoacoustic emissions were only detectable in 7/40 ears and had very low amplitudes, even in frequency bands with normal hearing on pure tone audiometry. Type 1 Stickler syndrome is characterized by a mild high-frequency SNHL, emerging in childhood and non-progressive. Absent otoacoustic emissions are a frequent finding. Patients with type 2 Stickler syndrome exhibit early-onset moderate SNHL affecting all frequencies with a sloping audiogram. Taking into account the visual impairment in many patients, we recommend regular auditory follow-up in patients with Stickler syndrome, especially in childhood.},
  author       = {Acke, Frederic and SWINNEN, FREYA and Malfait, Fransiska and Dhooge, Ingeborg and De Leenheer, Els},
  issn         = {0937-4477},
  journal      = {EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY},
  keyword      = {HEARING-LOSS,MESSENGER-RNA,COL11A1 GENE,MUTATIONS,GENOTYPE,DYSFUNCTION,IMPAIRMENT,EXPRESSION,COLLAGEN,COCHLEA,Stickler syndrome,Collagen,Hereditary hearing loss,COL2A1,COL11A1,Otoacoustic emissions},
  language     = {eng},
  number       = {10},
  pages        = {3025--3034},
  title        = {Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients},
  url          = {http://dx.doi.org/10.1007/s00405-016-3896-6},
  volume       = {273},
  year         = {2016},
}

Chicago
Acke, Frederic, FREYA SWINNEN, Fransiska Malfait, Ingeborg Dhooge, and Els De Leenheer. 2016. “Auditory Phenotype in Stickler Syndrome : Results of Audiometric Analysis in 20 Patients.” European Archives of Oto-rhino-laryngology 273 (10): 3025–3034.
APA
Acke, F., SWINNEN, F., Malfait, F., Dhooge, I., & De Leenheer, E. (2016). Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients. EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY, 273(10), 3025–3034.
Vancouver
1.
Acke F, SWINNEN F, Malfait F, Dhooge I, De Leenheer E. Auditory phenotype in Stickler syndrome : results of audiometric analysis in 20 patients. EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY. 2016;273(10):3025–34.
MLA
Acke, Frederic, FREYA SWINNEN, Fransiska Malfait, et al. “Auditory Phenotype in Stickler Syndrome : Results of Audiometric Analysis in 20 Patients.” EUROPEAN ARCHIVES OF OTO-RHINO-LARYNGOLOGY 273.10 (2016): 3025–3034. Print.