Improved diagnostic effectiveness with a sequential diagnostic paradigm in idiopathic pediatric sensorineural hearing loss.
OBJECTIVE
To determine whether a stepwise diagnostic paradigm is more diagnostically efficient and cost-effective than a simultaneous testing approach in the evaluation of idiopathic pediatric sensorineural hearing loss (SNHL).


METHODS
Prospective prevalence study.


METHODS
Tertiary referral children's hospital.


METHODS
Consecutive children (n = 150) presenting with idiopathic SNHL in the last 2 years.


METHODS
All children were evaluated with full diagnostic evaluations including GJB2 screens, temporal bone computed tomography scans, and laboratory investigations.


METHODS
1) Diagnostic yields of GJB2 screens, imaging, and laboratory results per SNHL category; 2) Cost analysis comparing a sequential versus a simultaneous testing approach.


RESULTS
Overall, 12.0% of patients had biallelic mutations in the GJB2 gene, whereas 30% of patients had an abnormality on temporal bone scan. Laboratory testing did not reveal the SNHL etiology in any patient. While maintaining diagnostic accuracy, significant cost savings were inferred by using a sequential diagnostic algorithm. Our data show children with severe to profound SNHL should first be tested with a GJB2 screen, as opposed to those with milder SNHL, who should undergo imaging as the initial testing step. In patients with initially positive GJB2 or imaging screens, logistic regression analysis significantly predicted negative results on further testing.


CONCLUSIONS
A stepwise diagnostic paradigm tailored to the level of the hearing loss in children with bilateral SNHL is more diagnostically efficient and cost effective than the more commonly used full, simultaneous testing approach. Laboratory investigation should not be routine but based on clinical history.
Preciado
Diego A
DA
Center for Hearing and Deafness Research (CHDR) and the Division of Pediatric Otolaryngology,Cincinnati, Ohio 45229-3039, USA.
Lawson
Louise
L
Madden
Colm
C
Myer
David
D
Ngo
Chris
C
Bradshaw
John K
JK
Choo
Daniel I
DI
Greinwald
John H
JH
D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D019411:Clinical Laboratory Techniques; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics; D003363:Cost Control; D003430:Cross-Sectional Studies; D005820:Genetic Testing; D017048:Health Care Costs; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D011446:Prospective Studies; D013701:Temporal Bone / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26