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COSM14: Genetics Research on Hearing Loss Provides New Insights

by Thomas R. Collins • August 1, 2014

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If the child is old enough to be imaged without sedation and the parents are interested, then imaging and genetic testing are done. “But we don’t do it in everybody,” he said. If the problem is severe to profound, then the imaging and testing is done. If it’s not, then the child is followed at six-month intervals. If the hearing loss is found to be progressive, the imaging and testing is done.

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  • Early Cytomegalovirus Testing Can Detect Sensorineural Hearing Loss in Very Young Children
  • Otolaryngology Research Increasingly Supports Genetic Screening to Evaluate Pediatric Hearing Loss
  • What Is the Optimal Workup for a Child with Bilateral Sensorineural Hearing Loss?
  • Diagnosis and Management of Congenital Hearing Loss
Explore This Issue
August 2014

“It’s phenotype-based,” Dr. Papsin said. “And it’s based upon the progression. That’s the start point for doing the testing. Up till then, I do nothing.”

But this approach is used within a system in which all children are captured, everyone who chooses to be is fully vaccinated, and there is a “reasonable medical legal environment” in which physicians are less afraid of being sued. “It’s the progressive hearing loss that’s the reason to proceed with the diagnostic algorithm,” he said. “There is no diagnostic algorithm without the progressivity. And it’s probably the only finding that justifies the expense of diagnostic testing.”

Dr. Choo said genetics testing and imaging can help guide discussions with parents. It may be that, “based upon the genotype, we really predict your kid’s going to be in the severe to profound range …. I’ll start planting the seeds about a cochlear implant for that kid fairly early.”

Dr. Griffith said that, in the case of the SLC26A4 gene, multiple mutations mean a worse outlook and a higher likelihood that siblings will be affected. “That has implications for the family,” he said, “because they try to predict what to expect.”


Thomas Collins is a freelance medical writer based in Florida.

Take-Home Points

  • A mouse model with SLC26A4 gene mutations that mimic the human phenotype of enlarged vestibular aqueducts could be used as a tool to better delve into the causes of hearing fluctuation and to evaluate new treatment options.
  • A careful risk-benefit calculation has to be made in children with hearing loss who have previously been diagnosed with CMV-related hearing loss. Insights into how the immune system responds to these infections might give valuable guidance.
  • At the University of Toronto, imaging and genetics testing are not done in every case; these steps are prompted by the severity and progressivity of the SNHL, and perhaps there is a lesson in that approach for the U.S. as it adapts to healthcare reform.

Pages: 1 2 3 4 | Single Page

Filed Under: Features, Otology/Neurotology, Practice Focus Tagged With: genetics, hearing loss, pediatric, sensioneural hearing lossIssue: August 2014

You Might Also Like:

  • Early Cytomegalovirus Testing Can Detect Sensorineural Hearing Loss in Very Young Children
  • Otolaryngology Research Increasingly Supports Genetic Screening to Evaluate Pediatric Hearing Loss
  • What Is the Optimal Workup for a Child with Bilateral Sensorineural Hearing Loss?
  • Diagnosis and Management of Congenital Hearing Loss

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