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GJB2 mutations and additional disabilities in a pediatric cochlear implant population
S Wiley1, D Choo, J Meinzen-Derr
1Division of Developmental Disabilities, Cincinnati Children's Hospital Medical Center, University of Cincinnati, OH 45229, USA. susan.wiley@cchmc.org
International Journal of Pediatric Otorhinolaryngology
|September 13, 2005
Summary
Children with GJB2 mutations and cochlear implants often have additional disabilities impacting development. Comprehensive evaluations are crucial for all hearing-impaired children, regardless of GJB2 gene mutation status.
Area of Science:
- Genetics
- Audiology
- Pediatrics
Background:
- Children with severe sensorineural hearing loss (SNHL) due to GJB2 mutations are often candidates for cochlear implants (CIs).
- Previous studies on GJB2 mutations and CIs excluded children with additional disabilities.
Purpose of the Study:
- To investigate the prevalence of additional disabilities in children with and without GJB2 mutations within a cochlear implant population.
Main Methods:
- Retrospective chart review of children with non-syndromic SNHL who received CIs between 1993 and 2004.
- Analysis of GJB2 mutation status and co-occurring disabilities.
Main Results:
- Of 46 eligible children, 16 had GJB2 mutations, 12 were GJB2 negative, and 17 had unknown GJB2 status.
- 44% of children with GJB2 mutations had additional disabilities, compared to 33% of GJB2-negative children.
- Disabilities included learning, developmental, and attention disorders, impacting CI outcomes.
Conclusions:
- Biallelic GJB2 mutations do not exclude non-hearing related disorders affecting speech, language, and learning.
- Additional conditions in 44% of GJB2-positive children can affect CI evaluation and performance.
- Comprehensive developmental and behavioral evaluations are recommended for all children with hearing loss.