A diagnostic paradigm for childhood idiopathic sensorineural hearing loss.
OBJECTIVE
Our objective was to determine the diagnostic yield of laboratory testing, radiological imaging, and GJB2 mutation screening in a large cohort of patients with differing severities of idiopathic sensorineural hearing loss (SNHL).


METHODS
We undertook a retrospective study of patients presenting with SNHL at our institution from 1993 to 2002.


RESULTS
Laboratory testing had an extremely low yield. Patients with unilateral SNHL had a significantly higher imaging yield than those with bilateral. The diagnostic yield of GJB2 screening was significantly higher in patients with severe to profound SNHL than in those with less severe SNHL. However, a relatively large number of patients with mild to moderate SNHL had positive GJB2 screens.


CONCLUSIONS
Based on diagnostic yields, we propose a cost-effective stepwise diagnostic paradigm to replace the more commonly used and costly simultaneous testing approach.


METHODS
C.
Preciado
Diego A
DA
Center for Hearing and Deafness Research, Division of Pediatric Otolaryngology--Head and Neck Surgery, Cincinnati Children's Hospital Medical Center, Ohio 45229-3039, USA.
Lim
Lynne H Y
LH
Cohen
Aliza P
AP
Madden
Colm
C
Myer
David
D
Ngo
Chris
C
Bradshaw
John K
JK
Lawson
Louise
L
Choo
Daniel I
DI
Greinwald
John H
JH
D000293:Adolescent; D000465:Algorithms; D002648:Child; D002675:Child, Preschool; D019411:Clinical Laboratory Techniques / Q000191:economics; D015331:Cohort Studies; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003362:Cost-Benefit Analysis; D004562:Electrocardiography; D005820:Genetic Testing / Q000191:economics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000191:economics / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000191:economics; D012189:Retrospective Studies; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed / Q000191:economics
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26