title: Etiologic and diagnostic evaluation: algorithm for severe to profound sensorineural hearing loss in Brazil.
abstract: OBJECTIVE
  Evaluation of the effectiveness of imaging and genetic testing, and establishment of a cost-effective diagnostic protocol for the etiologic diagnosis of sensorineural hearing loss (SNHL) in Brazil.
  
  
  METHODS
  Prospective cohort study.
  
  
  METHODS
  Analysis of 100 unrelated Brazilian patients with severe to profound bilateral SNHL submitted to cochlear implant (CI) between 2002 and 2010 at the University of Campinas hospital. The study was based upon three groups: individuals with congenital, progressive, and sudden SNHL.
  
  
  RESULTS
  After the diagnostic investigation, the number of cases with unknown etiology was reduced from 72 to 42 (a 42% reduction); 25% of cases were due to environmental factors, 19% to genetic causes, and 14% to inner-ear abnormalities or other clinical features. The genetic and imaging findings contributed to the diagnosis of SNHL in 19% and 20% of the cases analysed, respectively. Molecular testing mainly contributed to the diagnosis of patients with congenital SNHL, while the contribution of radiologic examination was higher for individuals with progressive or sudden SNHL. A sequential diagnostic protocol was proposed based on these data.
  
  
  CONCLUSIONS
  The proposed diagnostic workup algorithm could provide better optimization of etiologic diagnosis, as well as reduced costs, compared to a simultaneous testing approach.
authors.affiliation: * Human Molecular Genetics Laboratory, Molecular Biology and Genetic Engineering Center (CBMEG), University of Campinas (Unicamp) , Campinas, São Paulo , Brazil.
authors.forename: Priscila Zonzini
authors.initials: PZ
authors.lastname: Ramos
authors.forename: Vanessa Cristine Sousa
authors.initials: VC
authors.lastname: de Moraes
authors.forename: Maria Carolina Costa Melo
authors.initials: MC
authors.lastname: Svidnicki
authors.forename: Marcelo Naoki
authors.initials: MN
authors.lastname: Soki
authors.forename: Arthur Menino
authors.initials: AM
authors.lastname: Castilho
authors.forename: Edi Lúcia
authors.initials: EL
authors.lastname: Sartorato
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000465:Algorithms; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation; D003362:Cost-Benefit Analysis; D004252:DNA Mutational Analysis; D003952:Diagnostic Imaging / Q000191:economics / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000191:economics / Q000379:methods; D017048:Health Care Costs; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000191:economics / Q000209:etiology* / Q000235:genetics / Q000534:rehabilitation; D006320:Hearing Tests; D006785:Hospitals, University; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011237:Predictive Value of Tests; D011379:Prognosis; D011446:Prospective Studies; D012307:Risk Factors; D012720:Severity of Illness Index; D014057:Tomography, X-Ray Computed; D055815:Young Adult