Diagnostic Assessments for Deaf and Hard of Hearing Children

[Dr. Ashley Agan]
When I think about our ENT visits with new identification of hearing loss or follow-up audiogram for sensorineural hearing loss in children, they usually last for 15 or 20 minutes. Rachel, how long are your visits?

[Dr. Rachel St. John]
I think it's a big ask to have someone see a complex patient in 15 to 20 minutes. The parents are expecting that we view that child as a whole person. And I think that the time table that we work on don't always fit with that.

The acknowledgement that this first visit requires more time, I've never taken that for granted. In my practice, I think, "If I'm going to do this right, I need time." So for a new patient consult, I actually have 90 minutes. And for follow-ups, I have 30 to 60, depending on the complexity of the child.
[Dr. Ashley Agan]
That's amazing.

[Dr. Gopi Shah]
Let's say it's a five-year-old with newly-identified hearing loss. What is your first visit with the patient like?

[Dr. Rachel St. John]
The first thing I do with families is I take their audiogram of their child, and I superimpose it on what we call the visual audiogram (we also refer to it as the speech banana). It is the same graph as the audiogram, but it has all of the information visible. Where is each sound located? Where does speech live? Where is a barking dog? Where is a vacuum cleaner? Where is a bird chirping? I go over with the family what the child can hear and what they can't, and then what might benefit from things like amplification.

Then, we go through a language assessment. Obviously, that's going to look really different for patients who were born with bilateral profound sensorineural versus older patients with late-onset changes. It also depends on whether hearing loss is bilateral or unilateral. Those things all play differently into how children acquire language. The crux of the visit is that we need to make sure the child can access language, education, and connection with other human beings.

Let's say it's an otherwise healthy kid that has no diagnosed other medical problems. I have heard people say, "Wait till they get older. The genetic testing panels are going to evolve and be more advanced and informative. Wait until they want to start family planning." Do you have families or patients that don't want to do genetic testing? How do you counsel them?

[Dr. Rachel St. John]
I think that the patient can certainly get tested now, and then again in 10 years. But yes, we have had a couple of families who are uncomfortable with genetic testing. The majority of the time, that's because they don't necessarily know what it involves. Our hearing panels only test for those specific 200 mutations. They're not paternity tests. Certainly, if they need to go to larger testing, that's something that they can talk about with the genetic specialist. But usually, this comprehensive targeted testing, it's really specific.

Just last week, I did have a parent. She said, "I know you recommended that we get tested, but I actually just couldn't handle it if I found out that it was something from my side of the family. I know that sounds irrational." She was actually much more comfortable just saying, "This is my child. And I accept who she is, and I love her. And actually, that information makes me more anxious." And I really respect that. I do think it's important to go through that with families and help them understand why or why not we wouldn't pursue testing. But I've definitely had families where we've opted to just wait until that child starts expressing interest.

[Dr. Ashley Agan]
The question is always, how does it change what we're going to do? And if you can safely proceed without that information, then you can talk about holding off or waiting, for sure. What about kids who have a mixed hearing loss?

[Dr. Rachel St. John]
The International Pediatric Otolaryngology Group (IPOG) consensus has support and an algorithm for conductive changes, which I think is really helpful. We always determine if these changes are potentially reversible. If you stuck an old jelly bean in your ear, then we can probably fix your conductive hearing loss rather quickly. If you have fluid, we can put tubes in. But if we're talking about something permanent, either conductive or mixed, and this is not something middle ear dependent, we look at the whole kid and see if there's any syndromic presentation. Mixed and conductive hearing changes definitely are part of syndromes that involve midface, things like Treacher Collins, hemifacial microsomia, those kinds of things. Branchiootorenal syndrome may have ear malformation involvement. CT imaging certainly is super helpful.

The mixed presentation is interesting. In my clinic, when kids have a true mixed situation, it's often one of two scenarios. Either they have baseline sensorineural with middle ear disorder on top that's giving them an additional conductive component, or they have the famous enlarged vestibular aqueduct.