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Limitations of hearing screening in newborns with PDS mutations

Authors
 Bo Gyung Kim  ;  Joong-Wook Shin  ;  Hong-Joon Park  ;  Jung Min Kim  ;  Un-Kyung Kim  ;  Jae Young Choi 
Citation
 INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, Vol.77(5) : 833-837, 2013 
Journal Title
 INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 
ISSN
 0165-5876 
Issue Date
2013
MeSH
Child ; Child, Preschool ; Female ; Genetic Testing/methods* ; Hearing Loss, Sensorineural/diagnosis* ; Hearing Loss, Sensorineural/epidemiology ; Hearing Loss, Sensorineural/genetics ; Hearing Tests ; Humans ; Infant ; Infant, Newborn ; Male ; Membrane Transport Proteins/genetics* ; Mutation ; Neonatal Screening/methods* ; Prevalence ; Retrospective Studies
Keywords
Pendrin ; PDS ; Universal newborn hearing screening ; Habilitation
Abstract
OBJECTIVES: SLC26A4 (PDS) mutations are common cause of congenital hearing loss in East Asia. Hearing loss caused by PDS mutations tends to have delayed presentation; thus universal newborn hearing screening (UNHS) can be less effective in these patients. We examined the efficiency of newborn hearing screening test in patients with bi-allelic PDS mutations. METHODS: Forty-three patients with sensorineural hearing loss were recruited. Patients had an enlarged vestibular aqueduct and biallelic PDS mutations. Among them, newborn hearing screening test had been performed on 14. The remaining 29 patients did not undergo newborn hearing screening test. Another 15 patients without a PDS mutation but who had sensorineural hearing loss were also recruited as a comparison group. We reviewed the hearing loss history of the children using medical records and parent interviews. RESULTS: Among 14 patients with PDS mutation, four (28.6%) passed newborn hearing screening test in both ears and six (42.9%) passed in one ear. In contrast, only 2 of 15 (13.3%) children without a PDS mutation passed newborn hearing screening test bilaterally. The age at confirmation of bilateral hearing loss in bilateral "pass" patients with PDS mutation was 31.5 ± 17.9 months, which was significantly delayed compared to the age for bilateral "refer" children (1.75 ± 0.96 months) (p<0.05). CONCLUSION: The UNHS is not an accurate tool for predicting long-term hearing loss in patients with PDS mutations. We recommend that genetic screening be combined with UNHS, particularly in communities with a high prevalence of PDS mutations, to better identify children in need of early habilitation.
Full Text
http://www.sciencedirect.com/science/article/pii/S0165587613000839
DOI
10.1016/j.ijporl.2013.02.023
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Otorhinolaryngology (이비인후과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Bo Gyung(김보경)
Shin, Joong Wook(신중욱)
Choi, Jae Young(최재영) ORCID logo https://orcid.org/0000-0001-9493-3458
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/87151
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