Abstract
The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty-nine patients with WS, aged 2-30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech audiometry, tympanometry and measurement of the acoustic reflex, transient evoked otoacoustic emissions and brainstem auditory evoked responses. Hearing loss, defined by a pure-tone average above 15dB HL, affected 22.6% of the patients studied with traditional audiometry and was mostly slight in severity. Hearing loss was conductive in 9.4% of patients, mainly children with otitis media with effusion, and sensorineural in 13.2% of patients. However, 30% of the ears studied had a hearing impairment in the high frequency range (high-frequency pure-tone audiometry above 15dB HL), higher in participants above 15 years (46.15%) than in the younger ones (23.45%). Contralateral stapedial reflexes were present in all patients with A-type tympanograms. Transient otoacoustic emissions were absent in 44% of the ears of patients with normal hearing. Brainstem auditory evoked responses fell within normal ranges thus confirming the absence of retrocochlear dysfunction. Although hearing loss does not seem to be frequent, a cochlear fragility, especially in the high frequency range, related to outer hair cells is characteristic of WS. Therefore we strongly recommend monitoring patients affected by WS using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss.
| Original language | English |
|---|---|
| Pages (from-to) | 759-771 |
| Number of pages | 13 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 158 A |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 2012 |
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Keywords
- Brainstem auditory evoked responses
- Conductive hearing loss
- High-frequency hearing loss
- Otoacoustic emissions
- Sensorineural hearing loss
- Williams syndrome
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Audiological findings in Williams syndrome : A study of 69 patients. / Barozzi, Stefania; Soi, Daniela; Comiotto, Elisabetta; Borghi, Anna; Gavioli, Chiara; Spreafico, Emanuela; Gagliardi, Chiara; Selicorni, Angelo; Forti, Stella; Ambrosetti, Umberto; Cesarani, Antonio; Brambilla, Daniele.
In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 4, 04.2012, p. 759-771.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Audiological findings in Williams syndrome
T2 - A study of 69 patients
AU - Barozzi, Stefania
AU - Soi, Daniela
AU - Comiotto, Elisabetta
AU - Borghi, Anna
AU - Gavioli, Chiara
AU - Spreafico, Emanuela
AU - Gagliardi, Chiara
AU - Selicorni, Angelo
AU - Forti, Stella
AU - Ambrosetti, Umberto
AU - Cesarani, Antonio
AU - Brambilla, Daniele
PY - 2012/4
Y1 - 2012/4
N2 - The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty-nine patients with WS, aged 2-30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech audiometry, tympanometry and measurement of the acoustic reflex, transient evoked otoacoustic emissions and brainstem auditory evoked responses. Hearing loss, defined by a pure-tone average above 15dB HL, affected 22.6% of the patients studied with traditional audiometry and was mostly slight in severity. Hearing loss was conductive in 9.4% of patients, mainly children with otitis media with effusion, and sensorineural in 13.2% of patients. However, 30% of the ears studied had a hearing impairment in the high frequency range (high-frequency pure-tone audiometry above 15dB HL), higher in participants above 15 years (46.15%) than in the younger ones (23.45%). Contralateral stapedial reflexes were present in all patients with A-type tympanograms. Transient otoacoustic emissions were absent in 44% of the ears of patients with normal hearing. Brainstem auditory evoked responses fell within normal ranges thus confirming the absence of retrocochlear dysfunction. Although hearing loss does not seem to be frequent, a cochlear fragility, especially in the high frequency range, related to outer hair cells is characteristic of WS. Therefore we strongly recommend monitoring patients affected by WS using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss.
AB - The aim of this study was to investigate, in a clinical setting, the auditory function of a group of individuals affected by Williams syndrome (WS). Sixty-nine patients with WS, aged 2-30, underwent comprehensive audiological testing including air/bone conduction behavioral audiometry, speech audiometry, tympanometry and measurement of the acoustic reflex, transient evoked otoacoustic emissions and brainstem auditory evoked responses. Hearing loss, defined by a pure-tone average above 15dB HL, affected 22.6% of the patients studied with traditional audiometry and was mostly slight in severity. Hearing loss was conductive in 9.4% of patients, mainly children with otitis media with effusion, and sensorineural in 13.2% of patients. However, 30% of the ears studied had a hearing impairment in the high frequency range (high-frequency pure-tone audiometry above 15dB HL), higher in participants above 15 years (46.15%) than in the younger ones (23.45%). Contralateral stapedial reflexes were present in all patients with A-type tympanograms. Transient otoacoustic emissions were absent in 44% of the ears of patients with normal hearing. Brainstem auditory evoked responses fell within normal ranges thus confirming the absence of retrocochlear dysfunction. Although hearing loss does not seem to be frequent, a cochlear fragility, especially in the high frequency range, related to outer hair cells is characteristic of WS. Therefore we strongly recommend monitoring patients affected by WS using annual audiometric tests and performing otoacoustic emissions in order to identify a subclinical cochlear dysfunction which might benefit from an audiological follow up before the possible onset of hearing loss.
KW - Brainstem auditory evoked responses
KW - Conductive hearing loss
KW - High-frequency hearing loss
KW - Otoacoustic emissions
KW - Sensorineural hearing loss
KW - Williams syndrome
UR - http://www.scopus.com/inward/record.url?scp=84858998214&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84858998214&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.35241
DO - 10.1002/ajmg.a.35241
M3 - Article
C2 - 22411878
AN - SCOPUS:84858998214
VL - 158 A
SP - 759
EP - 771
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -