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Diagnostic Assessments for Deaf and Hard of Hearing Children

Author Quynh-Anh Dang covers Diagnostic Assessments for Deaf and Hard of Hearing Children on BackTable ENT

Quynh-Anh Dang • Aug 23, 2021 • 33 hits

Dr. Rachel St. John, a pediatrician specializing in hearing loss, discusses the diagnostic pathways that can elucidate the causes of hearing changes in deaf and hard of hearing children. Imaging and testing can differ based on the type of hearing loss (bilateral or unilateral) and families’ comfort level with genetic testing.

We’ve provided the highlight reel in this article, but you can listen to the full podcast below.

The BackTable ENT Brief

• During the first appointment with a family, Dr. St. John employs a visual audiogram to illustrate the capabilities and limitations of the child’s hearing. She also conducts a language assessment.

• Bilateral changes may indicate congenital hearing loss, a hearing loss identified at birth due to a genetic cause or environmental cause, for which a perinatal and neonatal history will be important. For unilateral hearing loss, an MRI of auditory canals can be helpful.

• Genetic testing can also identify syndromic hearing loss and aid in early intervention and management of other symptoms.

• Some families may be uncomfortable with genetic testing, so it is important to fully inform them of the benefits that it can provide, while also respecting their decision to test or not to test.

Pure tone testing provides a visual audiogram.  It is useful in most children and adults to identify and measure severity and type of hearing loss.

Table of Contents

(1) How to Conduct the First Visit

(2) Testing and Imaging for Congenital Hearing Loss

(3) Counseling Families During Genetic Testing

How to Conduct the First Visit

Dr. St. John walks us through the steps involved in a first visit for hearing changes. She emphasizes that a holistic evaluation of the child is important. The visual audiogram maps out the ability of the child to hear different sounds, and it can be useful for patient and family education. Also, Dr. St. John describes the language assessment and her goal of ensuring future cognitive ability and social functioning.

[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.

Listen to the Full Podcast

Comprehensive Care For Deaf and Hard of Hearing Children with Dr. Rachel St. John on the BackTable ENT Podcast)
Ep 10 Comprehensive Care For Deaf and Hard of Hearing Children with Dr. Rachel St. John
00:00 / 01:04

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Testing and Imaging for Congenital Hearing Loss

Genetic testing can elucidate the causes of bilateral hearing changes. Sometimes, it can identify underlying syndromes, which makes it possible to intervene early and manage other symptoms. On the other hand, genetic testing can guide decisions about the necessity of future imaging (such as EKG and MRI). With unilateral hearing loss, Dr. St. John usually orders an MRI to look for structural abnormalities.

[Dr. Ashley Agan]
Does every kid need to be sent for labs and genetic testing? Does every kid need an MRI?

[Dr. Rachel St. John]
When you have sudden hearing changes in adults, one of the first things you think about is a hemorrhagic event. In kids, this is incredibly rare. It's not impossible, but it's certainly not at the top of our list. So they've broken it down to whether it's sensorineural or conductive. Furthermore, if we're talking about sensorineural hearing changes, I really think about it in terms of unilateral or bilateral, and that drives my workup.

In children with bilateral sensorineural hearing changes, about a third of the time it's idiopathic, or at least we don't know how to test for everything. We can do all the testing and not get a diagnosis. But roughly another third of the time, it’s genetic. The first thing that I go for is comprehensive genetic testing. This is sending a child to genetics for a full evaluation. This didn’t happen a lot in the past. People would say, "Well, it's not really going to change what we're doing. You might get the name of it, but that's not really going to change our medical management." And I would strongly beg to differ, because if you get a good genetic evaluation, and with the access to testing we have, our multi-gene hearing panels now are upward of 200-plus mutations that are known to involve hearing changes.

If you identify a child with a genetic condition, you can start to look out for other medically associated things that you would not have otherwise known about. For example, we’ve had patients with Usher syndrome, and that's inherited sensorineural hearing changes with progressive retinitis pigmentosa. These people lose vision over time, usually starting in their late teens or early adulthood. Well, if I know that when that child's a toddler, I can get them into ophthalmology early, and they could be amenable to vitamin A supplementation which could change the course of what we're doing.

Conversely, if I get a genetic identification for connexin 26, which is the most common non-syndromic reason for hearing changes that we see, I'm not going to order anything like sedated MRI, because this hearing change happens at the potassium exchange level. It’s not structural.

It is very insurance-based, but I always try to get comprehensive genetic testing first.

If genetic testing doesn't show anything, an MRI of internal auditory canals can be really helpful. I'm a real stickler. I always get an EKG on a patient who has bilateral sensorineural hearing loss, just to rule out inherited prolonged QT. It's really rare, but, man, if you have it, that's a hard way to find that out later on at, say, the football field.

On the other hand, for unilateral hearing changes, imaging is usually first.

Counseling Families During Genetic Testing

While genetic testing is helpful in diagnosis, some families may be reluctant to undergo testing. Their reasons can include feelings of fear and preferences to wait for more advanced tests. Dr. St. John shares tips on how parent education can help ease these fears. She also discusses the need to respect families’ wishes and ways to proceed with the workup in the absence of genetic testing.

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.

Podcast Contributors

Dr. Rachel St. John discusses Comprehensive Care For Deaf and Hard of Hearing Children on the BackTable 10 Podcast

Dr. Rachel St. John

Dr. Rachel St. John is a practicing ENT and Associate Professor of Clinical Medicine at Children's Medical Center Dallas/UTSW Department of Otolaryngology.

Dr. Ashley Agan discusses Comprehensive Care For Deaf and Hard of Hearing Children on the BackTable 10 Podcast

Dr. Ashley Agan

Dr. Ashley Agan is a practicing ENT and assistant professor at UT Southwestern Medical Center in Dallas, TX.

Dr. Gopi Shah discusses Comprehensive Care For Deaf and Hard of Hearing Children on the BackTable 10 Podcast

Dr. Gopi Shah

Dr. Gopi Shah is a practicing ENT at UT Southwestern Medical Center in Dallas, TX.

Cite This Podcast

BackTable, LLC (Producer). (2020, November 24). Ep. 10 – Comprehensive Care For Deaf and Hard of Hearing Children [Audio podcast]. Retrieved from https://www.backtable.com

Disclaimer: The Materials available on BackTable.com are for informational and educational purposes only and are not a substitute for the professional judgment of a healthcare professional in diagnosing and treating patients. The opinions expressed by participants of the BackTable Podcast belong solely to the participants, and do not necessarily reflect the views of BackTable.

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Comprehensive Care For Deaf and Hard of Hearing Children with Dr. Rachel St. John on the BackTable ENT Podcast)
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