Kabuki syndrome

Prevention is the best ally, including in the realm of auditory health. Anticipating potential problems is always the best treatment, and in this regard, hearing screenings are crucial for children with SK. 

The first step is always an otoscopy to check for earwax plugs, internal inflammation, discharges, or perforations. 

Auditory Brainstem Responses (ABR) evaluate the brain's response to sound. Since this test does not rely on a person's behavioral response, they can be deeply asleep during the procedure. 

Otoacoustic Emissions (OAE) assess the inner ear's response to sound. As this test also does not depend on behavioral responses, the person can be deeply asleep during the procedure. 

Behavioral audiometry analyzes how a person responds to sound in general. These tests evaluate the functioning of all parts of the ear. The patient undergoing the test must be awake and actively respond to the sounds they hear during the procedure. 

Since many of our patients with SK are children, collaboration for the tests can be challenging due to their age or behavioral disorders, and it is often necessary to repeat those tests that require active participation from the patient. 

Treatment 

Consider: 

• Placement of tympanostomy tubes for patients with conductive hearing loss. 

• Hearing aids or cochlear implants for patients with sensorineural hearing loss, depending on the degree and bilateral nature.