title: Limitations of hearing screening in newborns with PDS mutations.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Otorhinolaryngology, Yonsei University, College of Medicine, Seoul, Republic of Korea.
authors.forename: Bo Gyung
authors.initials: BG
authors.lastname: Kim
authors.forename: Joong-Wook
authors.initials: JW
authors.lastname: Shin
authors.forename: Hong-Joon
authors.initials: HJ
authors.lastname: Park
authors.forename: Jung Min
authors.initials: JM
authors.lastname: Kim
authors.forename: Un-Kyung
authors.initials: UK
authors.lastname: Kim
authors.forename: Jae Young
authors.initials: JY
authors.lastname: Choi
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006320:Hearing Tests; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D015995:Prevalence; D012189:Retrospective Studies; D000076988:Sulfate Transporters
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters