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Genetic Testing for Hearing Loss

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Medical Evaluation of a Child with Sensorineural Hearing Loss

Explanation | Sensorineural Hearing Loss | About Genetic Testing l Syndromes Related to Hearing Loss

The Molecular Genetics Laboratory, in partnership with the Ear and Hearing Center at Cincinnati Children's Hospital Medical Center helps patients and families understand the diagnostic evaluation process for hearing loss.

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Sensorineural Hearing Loss (SNHL)

SNHL has many causes. For most children with SNHL, the cause is not obviously known and your ear specialist (pediatric otologist) will take a thorough medical history and perform a physical examination. 

Genetic factors account for hearing loss in over half (50%) of children with SNHL. Genetic hearing loss is related to the passage of genes which cause hearing loss through a family. 

The two main forms of genetic hearing loss are:  

  • Syndromic--hearing loss in association with other medical problems. About 30% of children with SNHL have syndromic hearing loss. Many of the syndromes associated with SNHL can be diagnosed by talking with and examining the child and family.   
  • Nonsyndromic--hearing loss without associated medical problems. Nonsyndromic hearing loss accounts for about 70% of children with SNHL. Genetic testing is an important diagnostic tool in the evaluation of children with nonsyndromic SNHL. 

Non-genetic factors are also important contributors to SNHL and include:  

  • Infections (meningitis, cytomegalovirus [CMV], syphilis)
  • Hyperbilirubinemia (jaundice at birth)
  • Medications (aninoglycoside antibiotics and cisplatin chemotherapy)
  • Trauma (skull fractures)
  • Immune dysfunction (autoimmune inner ear disease)
  • Blood dyscrasias (hypercoaguable states, sickle cell disease)

A child with SNHL may have different types of diagnostic tests in order to determine the cause of his or her hearing loss.

These tests might include:

  • Routine laboratory urine and blood tests 
  • Electrocardiograms
  • Imaging studies (CT and MRI)
  • Specialized laboratory tests including genetic tests

In addition to undergoing various medical tests, a child may be referred to a geneticist (or other specialist) for further evaluation to determine the cause of his or her hearing loss.

Read more about how patients with SNHL are evaluated.

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To schedule an evaluation for your child, please contact the Ear and Hearing Center at 513-636-2171.