Hearing Loss and Genetics: From Diagnosis to Surgical Decision-Making

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The opening of this shiur, in JOWMA’s own words — taken from the captions, so names and Hebrew terms may be approximate.

My name is Jenny Berkovich. I am a pediatrician and director of education at Joma. Today's topic is hearing loss and genetics from diagnosis to surgical decision-making. We will be hearing from two expert panelists, Dr. Ksenia Aron and Dr. Bracha Tarshish. Dr. Aron is a board-certified ENT and head and neck surgeon, as well as a Stanford trained otologist, neurotologist, and a lateral skull base surgeon. She is currently the director of otology and cochlear implant genetic standpoint. As a pediatrician, I see a lot of hearing loss, but primarily it's something that's acquired that's infectious. So, how common is it that there's actually a genetic component to it? >> So, if you look at the If you look at hearing loss that you're expecting to likely have a genetic component, it's early onset hearing loss, particularly prelingual, before the development of language. And about 1 to 3 per thousand infants have hearing loss. Um and loss. Um and of those about let's say we're talking about developed countries because we're talking about the US, we're talking about Israel. Of those about 80% are due to genetic causes and about 20% are due to acquired environmental causes. And acquired environmental causes, those could be congenital CMV infections, other torch infections, um certain use of certain antibiotics. And then if you look at genetic causes, it's it's split up um when it's split up um when it's split up into different types, syndromic, non-syndromic, which we'll go into more, but about 80% of these one to three per thousand have a genetic form of hearing loss. And uh as we get have gotten further, we've been able to diagnose more and more of them with specific genetic problems. >> Thank you for that. When a patient presents with congenital or early-onset what are some clues that would prompt maybe a pediatrician like myself or other clinicians to consider a genetic

Jump to a moment

1. 0:00My name is Jenny Berkovich. I am a pediatrician and director of education at Joma. Today's…
2. 5:07apparently non-syndromic but they have prolonged QT. So if they have a cochlear implant and they're…
3. 9:10well. They're regulatory, they affect genes are expressed. So, like with all of that combined, we've…
4. 13:18formed, if there's if there's anything wrong, you know, if you send for an EKG and…
5. 17:51like primarily non-surgical, such as myself, or maybe even non-medical. Like, what is a cochlear implant?…
6. 21:58to understand why. It's really the location of where there is a defect. So especially when…
7. 26:06when it comes to them understanding uh well, what does cochlear implantation uh kind of involve,…
8. 30:43it's it's a gene therapy. Gene therapies in general deliver functional copies of of a gene…
9. 34:52kind of cochlear implantation as as globally. So while a patient has a hearing aid, I…
10. 38:56variability even with the same within the same mutation within the same family. And when it…

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