Velopharyngeal Dysfunction

Dr Jordan Halsey provides an overview of pharyngeal dysfunction and its management with surgical option as well as nonsurgical treatments.

Dr Jordan Halsey, MD: Hello everyone. My name is Jordan Halsey. I'm a pediatric plastic and craniofacial surgeon with dual appointments at Johns Hopkins University and the University of South Florida as assistant professor of plastic surgery. I'm going to give a brief talk today, providing an overview of velopharyngeal dysfunction.

I have no disclosures.

These are the main learning objectives that I wanted to make sure that we discuss today. Obviously, this provides not just an overview of velopharyngeal dysfunction but also its management with surgical options and nonsurgical treatment as well.

The velopharynx is the anatomic structure that's responsible for the production of normal legible speech and it does so by separating the nasal and oral cavities to produce sound. When the velopharynx is dysfunctional, sound production can be distorted by excessive air escape and lead to hypernasality and compensatory errors, which is what we label as velopharyngeal dysfunction.

Brief overview of the anatomy, I think that's very important to discuss before talking about kind of the functional consequences and treatment. The velopharyngeal valve is formed by the interaction between the velum or the soft palate and the posterior pharyngeal wall. Its lateral boundaries are formed by the lateral pharyngeal walls.

There are several muscles involved with velopharyngeal function and these include the levator veli palatini, the tensor veli palatini, palatoglossus, palatopharyngeus and the muscularis uvulae. The most important of these is levator veli palatini, which forms a muscular sling in the soft palate that is critical for velar elevation and VP port closure during speech. On the posterior pharyngeal wall side, the most important muscle that's consequential for this is the superior pharyngeal constrictor muscle and this is a broad muscle you can see pictured here that is along the entire posterior pharynx and allows for VP closure by stimulating the lateral pharyngeal walls.

There are several different closure patterns that we know are present both in normal patients and in patients with velopharyngeal dysfunction and it's very important to know this information about patients when you're considering what surgical options to provide for them. The most common closure pattern that we see is the coronal closure pattern and this is where closure is determined primarily by the elevation of the soft palate or the velum. The sagittal closure pattern is dependent upon the lateral pharyngeal walls and this is why it's important to note whether most of the VP port closure is coming from the palate, or if it's coming from the pharynx. The circular closure pattern is what occurs when the medial motion of the lateral pharyngeal wall makes an equal contribution as velar elevation and there are some individuals that have a Passavant's ridge, pictured here in the bottom photo, and this can be visible along the posterior pharynx, forming a localized transverse ridge of tissue during speech.

VPD can occur in a variety of patients. Oftentimes we relate it to cleft palate, as we know that a lot of cleft palate patients can end up with shortened or scarred palates even after their palate is repaired or you have some patients that develop large fistulae that allow for excessive nasal air escape and can contribute to velopharyngeal dysfunction. There are also patients that have submucous cleft palates that you can't necessarily see anything on gross physical examination but if you look closely on an internal examination, you can see that their levator muscles are running in the wrong direction, longitudinally and that there's actually a cleft palate beneath the mucosa and this can cause VPD as well. There are also some other neuromuscular abnormalities and genetic syndromes that can lead to VPD as well.

We sort of lump all of velopharyngeal dysfunction together and a lot of times the nomenclature can be very confusing. You'll hear velopharyngeal insufficiency, incompetence and these things are oftentimes used interchangeably, even though the terminology actually has distinct differences. I did want to clarify some of that because I think that can be very confusing for people. Velopharyngeal insufficiency is a true anatomic defect or structural abnormality that prevents the closure of the velopharynx during speech. And this can occur commonly, as I mentioned in cleft palate patients, in patients that have a submucous cleft and in congenital cases, such as in 22q11 or velocardiofacial syndrome, where the soft palate is disproportionately short relative to the depth of the pharynx at birth. It also can occur post-surgically in patients that undergo specific types of tumor resections or resections of their adenoid.

In contrast velopharyngeal incompetence is a congenital or acquired neuromuscular or neurologic issue that leads to abnormal velopharyngeal function, even though the anatomy and palatal length are appropriate. And we see this in some patients that have myotonic dystrophy, muscular dystrophy, cerebral palsy and other older patients that develop Parkinson's disease, patients that have cerebrovascular accidents. A lot of times, in addition to their apraxia related speech issues, they can also demonstrate signs of VPD or velopharyngeal incompetence in this case.

We also see in some musicians, which is kind of interesting, especially trumpet players, trombone players, patients that place a lot of pressure on their palate because they're blowing so much air for their musical instrument, they can actually stress out the muscles of their palate and the posterior pharynx and this leads to velopharyngeal incompetence, even though they have normal anatomy, they actually have so much stress that they put on those muscles, they tire out. And in these patients, it's specific to note that this is the etiology of VPD and not some structural problem because the treatment is actually rest. It's not surgery.

Then there are patients that have true velopharyngeal mislearning, which means they have no anatomic or physiologic reason to demonstrate VPD symptoms such as hypernasality, but because of incomplete velopharyngeal closure during speech, they produce certain sounds inappropriately. And in those patients, you have to continue to encourage speech therapy because oftentimes sound placement issues and in addition to articulation errors that occur commonly in these patients can be corrected with aggressive speech therapy.

Finally, I do want to mention that there are oftentimes patients who have combined type VPD, where they have several reasons, both anatomic, potentially physiologic and mislearning that can occur simultaneously and make it sort of difficult to not only make the diagnosis of VPD but also to better understand all of the reasons that contribute to their symptoms.

On physical examination, it's obviously very important to look inside the patient's mouth and try to determine if you see any anatomic abnormalities, such as a submucous cleft or something specific like a fistula, post-cleft palate repair, that could be leading to their excessive nasal air escape. In this patient, you can see in the photo of bifid uvula in the posterior part of their palette but you also can see that zona pellucida or that sort of dull colored appearing tissue in between the lateral aspects of their palate.

And that is really good sign of a submucous cleft because you can see that those more thick areas on the lateral aspects are actually the levator muscle running longitudinally in the wrong direction. This is a great example, submucous cleft patients are a little harder to diagnose. They'll just have subtle findings that aren't as clear but it's definitely something you should always look for. As I mentioned as well, you should also look inside their mouth during speech because you can sometimes see palatal elevation, even on gross speech exam. And that can give you a sign that there may be some sort of neurologic dysfunction leading to their speech issues.

I want to mention just briefly, velocardiofacial syndrome or 22q11 deletion syndrome. This is a not incredibly common genetic syndrome but it is common enough that we do have several big 22q centers across the United States that deal directly with these patients. They have a very known set of physical exam findings that you could see just on gross craniofacial exam. As pictured in the picture on the left, oftentimes these patients have small heads, smooth filtrums, flat midface, epicanthal folds. They end up with a very sort of pathognomonic look that can be helpful in making the diagnosis of this genetic syndrome. In addition to palatal anomalies, they can have submucous or overt cleft palate. They oftentimes have very disproportionate size of their posterior pharynx in relation to their palate, that even if their palate is completely normal, it's just unable to completely reach the back of their throat during speech and they develop this significant hypernasality that necessitates surgical intervention. These patients oftentimes have immunologic disorders, neurologic disorders, renal and cardiac abnormalities and end up requiring a multidisciplinary approach for management.

This is one of the big centers up at Nationwide Children's and this is all the specialty that they typically involved in the treatment of these patients, just to show specifically how extensive a workup and management is in this particular syndrome.

What's important in this syndrome in particular, is that oftentimes they do necessitate speech surgery because they have significant nasal air escape. And what you need to remember about their anatomy is that oftentimes their carotid arteries are medialized, compared to a normal patient whose carotid arteries run in the carotid sheath on the lateral neck. They can actually creep more immediately in the posterior kind of pharyngeal region and this can be right in the area that you're doing dissection for a posterior pharyngeal flap surgery or other types of surgical interventions for these patients. And so we always recommend that if you do have a patient that has 22q11, that once that diagnosis is made, if you're intending upon performing speech surgery, that you order the appropriate preoperative imaging.

I think it's very important to always remember that the surgical intervention of these patients may be needed at some point but what we know in every single VPD patient, whether it's a surgical patient or not, is that they need to be both evaluated and treated regularly by a speech therapist. It's extremely crucial that speech therapy is involved because even postoperatively, a lot of times once you correct their hypernasality and you allow for their velopharyngeal port to appropriately function, they still have a lot of compensatory articulation errors and other types of speech issues that will need further correction and further management, even beyond surgical intervention.

There's a lot of speech scales, CAPS-A is commonly used in the cleft population and in addition to the Pittsburgh Weighted Speech Score. These are employed by the speech therapist to help allow for appropriate evaluation of patients with concern for VPD. And what they're looking for is resonance. The ability to make certain sounds that require oral air pressure, such as B's and P's, that puh sound, requires the ability of your palate to reach the back of your throat and close off that valve. And if it's not able to do that, a lot of times rather than a P, you will hear substituted sounds that don't make any sense. This can affect the intelligibility of patients. This can affect their overall ability to communicate with their classmates at school or even later in life in a workplace setting. And you'll oftentimes hear hypernasality, so excessive nasal air escape that makes for breathy kind of sounds but also for very nasal type sounds.

This is a patient that was treated at my hospital, which is Johns Hopkins All Children's Hospital in St. Petersburg, Florida. And she consented for her photo to be included in this or her grandparents did. This is her speech sample prior to performing surgical intervention. She has a history of neuromuscular dystrophy and so she had no cleft palate but this is how she presented to me.

Dr Jordan Halsey, MD:

Can you say puppy dog?

Speaker 2:

No.

Dr Jordan Halsey, MD:

Can you say buy baby a bib?

Speaker 2:

My mamme a mib.

Dr Jordan Halsey, MD:

Can you say 55 fish?

Speaker 2:

55 fish.

Dr Jordan Halsey, MD:

Say tell Teddy to try.

Speaker 2:

Tell Teddy to try.

Dr Jordan Halsey, MD:

You can hear, even buy baby a bib, she said, "My mamme a mib," because she doesn't have the ability to say B's because of her neuromuscular dystrophy. That's a really good example of certain speech samples that we oftentimes request from patients to kind of gauge where they're at. And you can hear the nasality, you can hear her nasal air escape. She's a great example of a patient who had significant VPD and especially because she's non-cleft patient.

Moving on, I want to talk a little bit about some of the imaging diagnostic studies that we typically order in these patients. Video fluoroscopy is a great study. This study was actually performed on the previous patient that I showed you and it is a dynamic study that does require the administration of barium contrast, so there is a radiation exposure, albeit very mild. Typically the same amount that we would use in swallow studies in kids. And this allows us to assess the presence of a velopharyngeal gap during an active speech exam. And typically we just ask these patients to sniff a little bit of barium and we perform x-ray studies as they perform speech samples. I'm going to show you this. This is her video fluoroscopy exam.

Speaker 2:

Cookies. I see stars.

Dr Jordan Halsey, MD:

There you could see a gap present where her palate is unable to reach the back of her throat. And that told me, in very clear imaging, objective data form, that while obviously she has an issue that we can tell on her speech examination, but when you see what you see on this study is that her palate just does not make it to the back of her throat. And that's because her palatal muscles are just weak related to her neuromuscular dystrophy, they just don't make it there. And you could see that very well. Obviously the barium is very useful in highlighting that posterior palate, as it hits up against the pharynx there. One of the pros of this study and one of the reasons why I think it's still performed in spite of the radiation exposure is that it's less invasive. Oftentimes the gold standard, which is nasopharyngoscopy, can be very challenging for four and five year old patients to allow for while they're awake a scope to be placed in their nose to monitor their speech as they talk.

And there are definitely patients that tolerate that and patients that don't and I think in a four year old patient as this patient was, it was so easy to perform this study and so that was the reason why she received this imaging. But the con of this, and you'll see kind of on the next illustrations, that the results are a little less specific. You can see that her palate doesn't quite reach the back of the throat but you can't really fully assess her closure pattern. You can't see the adenoid. You also can't see specifically how big the gap is, where the gap is located. Some gaps are more central, some are a bit more lateral. And I think having more information is always better. And that's why the gold standard, I think still to this day for VPD diagnosis is nasopharyngoscopy.

You could see in figure A here, that is basically at kind of rest. And then as people speak, the palate elevates to the back of the throat there. And if there were issues, you would see air escape via bubbles. You can actually sometimes see the gap while they're talking. You can see bubbles for them in different areas and it could be very useful. It's actually a very phenomenal study, especially if you have a patient who's compliant and willing and parents who are reasonable, who can kind of sit there. If parents aren't present a lot of times, child life can be really useful in these kids to help them kind of stay calm and continue to remain cooperative. It's definitely the gold standard for diagnosis for VPD and I think it's really while invasive, a really great study to help you for surgical planning as well.

I do want to mention this, just because it's coming on the scene and I think will eventually play a role in VPD diagnosis and management, and that's dynamic MRI. We talk about performing the video fluoroscopy and we use contrast and we just basically perform imaging as they speak but the dynamic MRI, if we could not give the contrast and we could just have kids sit in an MRI machine and say a few words, I think over time, that's going to evolve to become a really useful modality because you can not only just see gap size and things that you see on the nasopharyngoscopy that the video fluoroscopy wouldn't give you, but you can actually see the levator muscles.

You can see specifically in a measured form, how big of a gap is present, specifically what the muscles are doing. I think it can be just a phenomenal study in the future. There are clinical trials that are currently in process to where centers are using this. They're comparing cases to controls. And I think over time, probably in the next several years, we will see this come on the scene as a great diagnostic modality, especially with regards to improving our ability to surgically plan, improving our ability to make the correct diagnosis but also just a more intelligent diagnosis about what exactly is going on that's leading to their velopharyngeal dysfunction.

I want to talk briefly about some of the surgical options that we typically utilize in these patients. Oftentimes, if these patients are submucous cleft or they've had a straight line palate repair in the past, we could perform a Furlow palatoplasty, which allows us to reorient the levator muscle in the appropriate position and lengthen the palate simultaneously. This is a very common procedure that's used in cleft palate patients but we can use these in some other patients as well, even patients, like I said, that received a straight line palate repair because theoretically, they're still able to make these types of flaps that lengthen the palate. You can't gain a whole lot of length from a Furlow. You can gain definitely a few centimeters. And I think for small central gaps, if you're able to kind of really assess the size of the gap on something like nasopharyngoscopy, it could be incredibly useful to use this treatment option or as a first line treatment prior to performing something like a posterior pharyngeal flap.

The posterior pharyngeal flap I think, is in a lot of centers become quite the gold standard. It's great for circular closure patterns with large central gaps. You can actually tailor the size of the flap to the gap that's present. And in patients that have adequate lateral wall motion, it can really allow for closure completely to create appropriate sounds. In patients who already underwent Furlow palatoplasty, either for their cleft palate or as a previous speech surgery, this can be a very useful option to close any residual gaps present. And especially in those patients that have 22q11 deletion, where they have very large, high arched kind of posterior pharynx and a shortened palate, a lot of times a Furlow isn't going to give you enough length to gain what you need to improve their speech. And a posterior pharyngeal flap can allow for that.

You definitely need to examine these patients preoperatively for the presence of an adenoid. If it's present, you may need to perform an adenoidectomy prior to the procedure. But I think oftentimes ENT is very much a part of these patients with regards to their typical workup, especially if they're a cleft patient. It's also important to note that it can be designed in a variety of ways. In most centers I think it's superiorly based but you can also have an inferiorly based posterior pharyngeal flap. And basically the whole function of this flap is that it allows a bridge to be formed to plug the gap that's present and just basically stays there. It doesn't have to function dynamically during speech. It's a great option in patients like our patient with neuromuscular dystrophy, where you don't need any sort of functional muscle to be present. This is just basically performing the role of a static sort of plug into the gap that's present.

And you could see how it's designed here. It's typically marked at the base of the level of the adenoid pad, correlating to the first cervical vertebra. And as I mentioned, it can vary in width depending on the size of the gap that's present.

And it's important to note that preoperatively, you really should kind of monitor these patients for symptoms of obstructive sleep apnea. Oftentimes when you perform posterior pharyngeal flap surgery because you are closing that port between the nose and the oral pharynx, you can actually lead to a transient increase in obstructive sleep apnea risk, not just in the short term but in the long term as well. In the short term, every patient is going to come out of this surgery with a little bit of snoring. A lot of times there's a lot of swelling present so it's very common that we would see kind of these transient sleep apnea symptoms. But if they do have preoperative sleep apnea, even if this is the best surgery for them and it's indicated for them to undergo pharyngeal flap surgery, you definitely need to know kind of where they're at pre-op and then assess where they are a couple of months postop, to make sure that you are staying on top of this and you don't leave them at risk for prolonged sleep apnea that's left untreated.

The most common complication of a posterior pharyngeal flap surgery though is just persistent hypernasality. It's just patients that are, even though you do this surgery, they still have issues. Some of them end up needing a hemi sphincter or a sphincter pharyngoplasty in addition to this surgery. And oftentimes, patients do quite well. But I think in most cases, we kind of over or under correct things accidentally. And I think trying to get the gap completely plugged and sometimes don't get it quite that way. But I do want to play for you a postoperative sleep sample from that same patient who underwent a posterior pharyngeal flap surgery and this is her one day postop sleep sample.

Dr Jordan Halsey, MD:

Can you say, pet the puppy?

Speaker 2:

Pet the puppy.

Dr Jordan Halsey, MD:

Say buy baby a bib.

Speaker 2:

Buy baby a bib.

Dr Jordan Halsey, MD:

Say tell Teddy to try.

Speaker 2:

Tell Teddy to try.

Dr Jordan Halsey, MD:

55 fish.

Speaker 2:

55 fish.

Dr Jordan Halsey, MD:

I think you can even tell, even though her voice still sounds quite like a Disney princess, she's all of a sudden able to say, "Pet the puppy, buy baby a bib, tell Teddy to try," all these sounds that you heard preoperatively, she isn't able to place, she's now able to do that because she has the appropriate kind of correct anatomical plug there to prevent that excessive nasal air escape. And that's how posterior pharyngeal flap surgeries can really bring a dramatic difference even just one day postop.

I think the other commonly used surgery in these patients, especially patients that aren't quite candidates for a Furlow, due to the size of the gap that's present is a sphincter pharyngoplasty. And if there's a lateral defect, air escape coming laterally rather than centrally or there's poor lateral wall motion present, this can be very useful. You end up raising flaps, you could do one side or both side, based laterally containing the palatopharyngeus muscle and use that in an interdigitated fashion to basically allow for that gap to be closed. And you create the defect at the level of velopharyngeal closure and basically just insert the flap there.

Another important surgery that's coming on the scene as well is posterior pharyngeal wall augmentation. In patients that have had multiple speech surgeries that are still having small gaps present, this can be a very useful thing just to plug a very small defect, especially in patients that have good velar function. This is not a new surgery. This has been done literally since the 1800s, all types of tissues have been used. They used to use ear cartilage, sometimes people suggested using alloplastic things such as Teflon and silicone. There are new products coming on the scene off the shelf, in addition to a lot of people advocating for the use of fat. We do a lot of fat grafting, both in breast reconstruction and other types of applications but in craniofacial surgery it has become more common. And I think a lot of people are very comfortable doing that surgery and for these very small gaps, be willing to do a little bit of fat grafting.

But the only caveat to this is that longterm results are still remain in question. We're not sure how much of it gets resorbed. There's concern for potential embolization of the materials you inject. Obviously there's a lot of big vessels in the posterior pharynx that you don't want to be too cavalier with. And so I think it's just important to note that this is something that we discuss something, something that some centers do for these small gaps, especially in patients that aren't candidates to get these bigger surgeries or already had those surgeries.

And you could see here pictured how augmenting the posterior pharyngeal wall just a little bit, right at that level of VP closure can be very useful. It would be a pretty straightforward, easy procedure to do.

There are also patients who are just not surgical candidates or patients who are not willing to undergo surgical treatment for their VPD and I think in those patients, the best option is typically some type of obturator or palatal lift device, that can be very useful to act in such a way to help to lift the posterior soft palate. A lot of patients don't tolerate these quite well because it is pretty invasive. It's like an extended retainer that goes all the way to the back of your throat. It takes a little bit of time to get used to. In patients with very short palates, you can also extend the palatal lift device to include a speech bulb to also add bulk posteriorly to help make that contact between the palate and the posterior pharynx. But again, these are quite invasive devices. They oftentimes need to be fitted to the patients, which is a little bit easier in an adult but in children that rapidly grow, oftentimes these have to be refitted and resized as the children continue to grow.

There are often also patients who have very large symptomatic fistulae. I mentioned that initially, cleft palate patients that just had either difficulties with their palate repair postoperatively or developed large fistulae at some point that are either not amenable to repair or have been unable to be repaired. Oftentimes to prevent air escape through those fistulae, we can place an obturator device and this basically serves to plug that area where the air is escaping.

This slide provides an overview of all of the treatment options that we discussed to address and manage velopharyngeal dysfunction. You can see here that Furlow palatoplasty is very useful in submucous cleft palates and patients with small central gaps. Posterior pharyngeal flap surgery is very useful in patients with larger gaps that have good lateral wall movement. In comparison, sphincter pharyngoplasty is great in patients that have poor lateral wall movement or have lateral gaps. We also discussed the utility of posterior pharyngeal wall augmentation and palatal lifts and obturators in patients who are either not great surgical candidates or have undergone previous surgical treatments and have maxed out a lot of the more invasive surgeries for the treatment of their VPD. I think future directions, we'll see a lot more emphasis on the MRI imaging and the utility of dynamic MRI, as I discussed previously with regards to providing an even more thorough diagnostic picture of these patients and I think this will continue to impact further treatment and management in the future, as we better understand this diagnosis and how we should best approach it in every patient individually.