Etiological diagnosis of bilateral, sensorineural hearing impairment in a pediatric Greek population

Int J Pediatr Otorhinolaryngol. 2005 Apr;69(4):449-55. doi: 10.1016/j.ijporl.2004.11.007. Epub 2005 Jan 4.


Early diagnosis, evaluation and treatment of childhood deafness are essential for a child's normal growth. Etiological diagnosis of hearing loss makes prevention, family scheduling and more effective therapy feasible goals. Etiological assessment of sensorineural deafness still remains difficult although recently with the progress of genetics it has become more efficient. In this retrospective study, the etiology of bilateral, sensorineural hearing loss with indication for hearing aids has been studied in 153 hearing impaired children. Etiological diagnosis was based on family and patient record, physical, audiological and laboratory examinations. Among the 94 children who completed the diagnostic protocol etiological groups revealed the following distribution: non-hereditary acquired hearing impairment was present in 36 children (38%) and hereditary was present in 44 (47%) children. The etiology remained unknown in 14 (15%) children. Non-syndromic autosomal dominant type accounted for 13 (29% of hereditary hearing loss) children, non-syndromic autosomal recessive type for 21 (48%) children and syndromic deafness for 10 (23%) children. Modern diagnostic methods, such as genetic testing, help diminish the number of cases with hearing impairment of unknown etiology, for the benefit of children who receive early and appropriate medical, audiologic, genetic and educational counseling based on the etiology of their hearing loss.

MeSH terms

  • Child
  • Child, Preschool
  • Cohort Studies
  • Deafness / diagnosis
  • Deafness / etiology
  • Early Diagnosis
  • Female
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / etiology
  • Greece
  • Hearing Loss, Bilateral / diagnosis*
  • Hearing Loss, Bilateral / etiology
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / etiology
  • Hearing Tests / methods
  • Humans
  • Infant
  • Male
  • Retrospective Studies
  • Risk Factors