Abstract
The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondylomegaepiphyseal dysplasia (OSMED) was followed up after birth for hearing loss. Transient Otoacoustic Emissions (TEOAEs), Distortion Product Otoacoustic Emissions (DPOAEs), Automated and Clinical Auditory Brainstem Response (AABR and ABR) measurements, Visual Reinforcement Audiometry, immitansmetric measurements and hearing threshold measurements were performed for audiological evaluation. The patient developed sensorineural hearing loss at 11. months of age while his hearing was normal at birth. Because of auditory-verbal training with hearing aids started at 20. months of age, he now has normal verbal communication with his peers. This study clearly demonstrates that hearing loss develops in infancy in patients with OSMED and underscores the importance of continued hearing screening beyond newborn period for early intervention of hearing impairment and communication problems.
| Original language | English |
|---|---|
| Pages (from-to) | 433-437 |
| Number of pages | 5 |
| Journal | International Journal of Pediatric Otorhinolaryngology |
| Volume | 75 |
| Issue number | 3 |
| DOIs | |
| State | Published - Mar 1 2011 |
Fingerprint
Keywords
- COL11A2 mutations
- Newborn hearing screening
- OSMED
- Sensorineural hearing loss
ASJC Scopus subject areas
- Otorhinolaryngology
- Pediatrics, Perinatology, and Child Health
Cite this
Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2. / Tokgöz-Yilmaz, Suna; Şahli, Sanem; Fitoz, Suat; Sennaroĝlu, Gonca; Tekin, Mustafa.
In: International Journal of Pediatric Otorhinolaryngology, Vol. 75, No. 3, 01.03.2011, p. 433-437.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2
AU - Tokgöz-Yilmaz, Suna
AU - Şahli, Sanem
AU - Fitoz, Suat
AU - Sennaroĝlu, Gonca
AU - Tekin, Mustafa
PY - 2011/3/1
Y1 - 2011/3/1
N2 - The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondylomegaepiphyseal dysplasia (OSMED) was followed up after birth for hearing loss. Transient Otoacoustic Emissions (TEOAEs), Distortion Product Otoacoustic Emissions (DPOAEs), Automated and Clinical Auditory Brainstem Response (AABR and ABR) measurements, Visual Reinforcement Audiometry, immitansmetric measurements and hearing threshold measurements were performed for audiological evaluation. The patient developed sensorineural hearing loss at 11. months of age while his hearing was normal at birth. Because of auditory-verbal training with hearing aids started at 20. months of age, he now has normal verbal communication with his peers. This study clearly demonstrates that hearing loss develops in infancy in patients with OSMED and underscores the importance of continued hearing screening beyond newborn period for early intervention of hearing impairment and communication problems.
AB - The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondylomegaepiphyseal dysplasia (OSMED) was followed up after birth for hearing loss. Transient Otoacoustic Emissions (TEOAEs), Distortion Product Otoacoustic Emissions (DPOAEs), Automated and Clinical Auditory Brainstem Response (AABR and ABR) measurements, Visual Reinforcement Audiometry, immitansmetric measurements and hearing threshold measurements were performed for audiological evaluation. The patient developed sensorineural hearing loss at 11. months of age while his hearing was normal at birth. Because of auditory-verbal training with hearing aids started at 20. months of age, he now has normal verbal communication with his peers. This study clearly demonstrates that hearing loss develops in infancy in patients with OSMED and underscores the importance of continued hearing screening beyond newborn period for early intervention of hearing impairment and communication problems.
KW - COL11A2 mutations
KW - Newborn hearing screening
KW - OSMED
KW - Sensorineural hearing loss
UR - http://www.scopus.com/inward/record.url?scp=79951517437&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=79951517437&partnerID=8YFLogxK
U2 - 10.1016/j.ijporl.2010.12.004
DO - 10.1016/j.ijporl.2010.12.004
M3 - Article
C2 - 21208667
AN - SCOPUS:79951517437
VL - 75
SP - 433
EP - 437
JO - International Journal of Pediatric Otorhinolaryngology
JF - International Journal of Pediatric Otorhinolaryngology
SN - 0165-5876
IS - 3
ER -