Syndromic Craniosynostosis – PediaCast 440
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- Drs Gregory Pearson and Ibrahim Khansa visit the studio as we explore syndromic craniosynostosis. This condition impacts growth of a baby’s skull. We discuss the cause, symptoms, diagnosis, management, complications and long-term outlook for kids affected by this disorder. We hope you can join us!
- Syndromic Craniosynostosis
Announcer 1: This is PediaCast.
Announcer 1: Welcome to PediaCast, a pediatric podcast for parents. And now, direct from the campus of Nationwide Children's, here is your host, Dr. Mike.
Dr. Mike Patrick: Hello, everyone, and welcome once again to PediaCast. It is a pediatric podcast for moms and dads. This is Dr. Mike, coming to you from the campus of Nationwide Children's Hospital. We're in Columbus, Ohio.
It is Episode 440 for August 20th, 2019. We're calling this one "Syndromic Craniosynostosis". I want to welcome you to the program.
The title of today's episode is a mouthful. So, let me say it again, syndromic craniosynostosis. And it's one of those problems that does not have a common name. So we're stuck with the medical term.
But we're going to break it down right here from the beginning and explain exactly what it means. Syndromic is not too difficult. A syndrome is a collection of signs and symptoms often tied to a genetic condition.
Craniosynostosis is a bit more difficult. Cranio refers to the head -- in this case, the skull in particular. Synostosis is the medical term for the fusing together of bones that are next to one another. And you can sort of to see this in the definition, I'm sorry, you can sort of see this definition when you consider the word syn, S-Y-N is the Greek prefix meaning to join. So syn is to join.
Osto comes from the Greek word osteon which means bone and sis is a Greek suffix at the end of a word which means condition. So this is a condition involving skull bones that fuse together, craniosynostosis.
Now, you may be thinking aren't skull bones supposed to fuse together? And the answer is yes, they are, eventually. You'll recall that babies are born, when they're born, there are spaces between plates of bone called sutures. And at the places where sutures intersect one another, we have soft spots. Big one in the front, the anterior fontanelle where the sagittal coronal and metopic sutures come together. Again, that's the anterior fontanelle.
And then there's one in the back where the sagittal and lambdoidal sutures cross which is called posterior fontanelle. So, these are the soft spots. And the reason that these sutures and soft spots or fontanelles are important is because this is where and how the skull rapidly grows as the brain gets larger and expands during the early stages of child development.
Now, eventually, everything fuses together and the bones become a solid structure rather than a bunch of bony plates. However, if the sutures fused together too soon, then the skull can't keep up with brain growth and the pressure inside the skull arises as the brain continues to grow inside this now fused smaller container.
Another problem, early fusion of these sutures usually takes place in an asymmetric fashion and often involves multiple sutures leading to a smaller space inside, yes. But also a skull whose shape begins to change because there is more growth in some areas compared to other.
And as you can imagine, it's important to figure this all out early and intervene at the optimum time to avoid complications.
Now, stepping back to this syndromic part of this. Craniosynostosis can happen as an isolated event but it is also a prominent feature of several genetic syndromes. And this tend to be more complex forms of craniosynostosis and kids affected by these syndromes really need an entire team of medical providers carrying for their unique and specialized needs.
So, that's what we're going to cover today, syndromic craniosynostosis, which I hope will accomplish a couple of things.
First, to provide a source of education and support for families who are impacted by this disorder, but also to raise awareness. Craniosynostosis affects about 1 in every 2,000 to 2,500 births. So, it's not crazy common but it's also not rare. And because there's not a lot of simple plain language term for this condition, many parents have simply not heard of it.
And yet we should all know about it and be on the lookout for warning signs that suggest this problem could be going on as early as possible. And we'll share these warning signs with you in the course of this podcast.
In our usual PediaCast fashion, I have a couple of terrific expert guests joining me in the studio as we explore syndromic craniosynostosis. Trust me, it starts flowing off the tongue with ease the more you say it, syndromic craniosynostosis.
Our experts are Dr. Gregory Pearson and Dr. Ibrahim Khansa. Both are plastic and reconstructive surgeons with the Center for Complex Craniofacial Disorders at Nationwide Children's Hospital.
We'll get to them in a moment. But first, I do want to remind you we are in social media -- Facebook, Twitter, LinkedIn, and Instagram -- and love when you connect with us there.
It's also easy to get in touch with me if there's a topic that you would like to suggest for the program, or if you have a question for me or want to point me in the direction of a news article or even a journal article and you'd like some commentary on that. Please do feel free to write in. As I said, it's easy to contact us, just head over to pediacast.org and click on the Contact link.
Also, I want to remind you, the information presented in every episode of our podcast is for general educational purposes only. We do not diagnose medical conditions or formulate treatment plans for specific individuals. If you have a concern about your child's health, be sure to call your doctor and arrange a face-to-face interview and hands-on physical examination.
So let's take a quick break. We'll get Doctors Pearson and Khansa settled into the studio. And then, we will be back to talk more about, you got it, syndromic craniosynostosis. That's coming up right after this.
Dr. Mike Patrick: Dr. Gregory Pearson is a plastic and reconstructive surgeon at Nationwide Children's Hospital and an associate professor of Plastic Surgery at the Ohio State University College of Medicine. He serves as director of the Center for Complex Craniofacial Disorders at Nationwide Children's, which treat kids with a wide range of problems including the topic of our conversation today, syndromic craniosynostosis.
We're also joined by Dr. Ibrahim Khansa, another plastic surgeon with the Complex Craniofacial Program and an assistant professor of Plastic Surgery at Ohio State.
Let's give both of them a warm PediaCast welcome. Thanks so much for joining us today.
Dr. Ibrahim Khansa: Thanks for having us, Mike.
Dr. Gregory Pearson: Thank you for having us.
Dr. Mike Patrick: Yeah, I really appreciate you taking time and stopping by. So, Dr. Pearson, let's start with you, what exactly is syndromic craniosynostosis?
Dr. Gregory Pearson: Craniosynostosis is a premature fusion of the bones of the skull and syndromic means, it has a genetic component to it that we can identify a defined mutation in genes which is the cause of synostosis.
Dr. Mike Patrick: So, with the various syndromes that are associated with this, that would mean that craniosynostosis is one manifestation of that syndrome. But there are going to be other things that are present as well, depending on which syndrome that we're talking about.
Dr. Gregory Pearson: Correct. Children with syndrome craniosynostosis can have hand anomalies, midface anomalies, other systems involved with their genetic diagnosis or syndromic diagnosis.
Dr. Mike Patrick: So, this is, the craniosynostosis part of this is really a problem with growth of the skull. Tell us a little bit more about what kind of problem that entails?
Dr. Gregory Pearson: So, when children have craniosynostosis, it can cause issues with growth at the skull, which can cause issues with brain morphology, potential pressure on the brain. A lot of these children also have facial growth disturbances. So, their midface or their paranasal and periorbital areas can be deficient in growth which can cause a host of other concerns and issues that need to be addressed as they grow and are followed in our clinic.
Dr. Mike Patrick: And one of the places in particular where we see issues with the skull growth is going to be along sutures lines. So the baby's skull, correct me if I'm wrong, I'm going say this in a very elementary fashion, I'm sure. But the skull usually comprised of a bunch of plates of bones that have growth plates in between. Eventually, they are all supposed to fuse together to make one solid skull.
But when kids' heads are growing rapidly, we really want them at the skull to be able to grow along appropriately as their body grows. And so, because of that rapid growth, you really need these growth plates. That's where the growth happens right? Where the suture are?
Dr. Ibrahim Khansa: You nailed it. That's exactly right. We have multiple sutures in the skull and you know there's metopic coronal, sagittal and lambdoid and some more minor sutures like the squamosal and frontosphenoid. The bone is deposited at the suture and then the bones separate. That's how I think of a bone growth, skull growth, at the sutures.
So, when a suture fuses, that arrests the growth of the skull and the perpendicular direction to that suture. So, what that results in is elongation of the skull or compensatory growth in the direction that is parallel to that fused suture. So, that's abnormal.
Dr. Mike Patrick: And that's going to affect the shape of the skull, but then also the volume inside of the skull that the brain can reside in?
Dr. Ibrahim Khansa: Absolutely.
Dr. Mike Patrick: And then, what are some of the specific syndrome that we see associated with craniosynostosis?
Dr. Ibrahim Khansa: So, I think of them as three different categories of syndromes. There's syndromes that are due to a mutation of the FGFR gene, there's 2 and 3. Those are things like Apert, Crouzon, Pfeiffer. And there's the TWIST 1 gene which is Saethre-Chotzen Syndrome. And then there's something called craniofrontonasal dysplasia which is another X-linked syndrome.
Those are kind of main categories of syndromes. And each one has different extra cranial manifestation. So, for example with Apert syndrome they tend to have complex syndactyly of the hands and feet.
Dr. Mike Patrick: So, these are abnormalities like fingers and toes, things joined together, not formed quite correctly?
Dr. Ibrahim Khansa: Yes, yes. So, that's in addition to the craniosynostosis.
Dr. Mike Patrick: And then with some of the other one you may have airway issues, cardio vascular problems. So, issues with the heart or vision in hearing problems just depending on which syndrome we're talking about.
Dr. Ibrahim Khansa: And that's part of our job early on when the kid is being diagnosed with the syndrome like that, is to make sure that all these things are being looked at.
Dr. Mike Patrick: Now, can these conditions occur then outside of a genetic syndrome? So, we're talking about syndromic craniosynostosis, can you have just the skull problem isolated without the syndrome?
Dr. Gregory Pearson: So, you can have isolated craniosynostosis which is non-syndromic for example, sagittal synostosis. The suture that goes from, basically, the front anterior soft spot to the posterior soft spot. It's the most common form of synostosis and it's more common in males and it's typically not syndromic.
So, you can have craniosynostosis outside of syndromic craniosynostosis. And it's actually probably more common. However, with the syndromic craniosynostosis, we know that it is typically a gene mutation. We also know that it's typically a de novo mutation meaning that the parents are not affected and it's a new mutation in that offspring.
That being said, we do follow some families that we know have the various genetic mutations and the parents are affected and the children are affected as well.
Dr. Mike Patrick: Is there a different character to the craniosynostosis when you're looking at the isolated cases versus the syndromic cases? Or is one more complex than the other?
Dr. Ibrahim Khansa: Yes. So, syndromic craniosynostosis tends to be a multi-suture craniosynostosis. So, the most common type of syndromic craniosynostosis that we see is bilateral coronal craniosynostosis. But often there are other sutures that are involved, too.
That's number one. Number two is there may be associated brain abnormalities in certain syndromes that may affect the rate of growth of the brain which then affects your results after surgery.
Dr. Gregory Pearson: As we mentioned before, the syndromic synostosis also, because they have other area affected, tend to have more than midface, or again the periorbital paranasal area, compared to the non-syndromic craniosynostosis which again adds to the complexity. The literature suggests that children with syndromic craniosynostosis typically need more care and more operations than children with non-syndromic craniosynostosis.
Dr. Mike Patrick: So, really, it's more of a complex process that's happening. Now, this is one of those things that a lot of parents have not heard of. And so, and I think one of the reasons for that is we don't really have a common medical, a common language sort of term for it.
"Craniosynostosis is what she get" and because it's a mouthful, a lot of people don't talk about it. So, there's not as much awareness necessarily and yet from your folks' perspective, you see these kids on a very regular basis, talk a little bit about how common this really is. And this is something that parents in general should be aware of?
Dr. Ibrahim Khansa: So, the incidents of syndromic craniosynostosis is really varies by syndrome. So, depending on the syndrome it's anywhere between 1 and 30,000 and 1 in a million.
So, it's not super uncommon, it's much less common than non-syndromic craniosynostosis. Like Dr. Pearson said, most of these syndromes are autosomal dominant with variable penetrants. That being said, like he said most of the kids, the children who are born with syndromic craniosynostosis had a de novo mutation where they don't have a family history of craniosynostosis.
Dr. Mike Patrick: And then, the ones that are not related to syndromes, those are much more common. And I think in a literature I'd seen as many as 1 in 2,000 to 2,500 births. Does that sound correct?
Dr. Gregory Pearson: Yes, correct.
Dr. Mike Patrick: In terms of increased risk of this happening, are there any particular risk factors where even though this is a new mutation, could you predict in any way that, "Hey, maybe this is more likely in one case than another?"
Dr. Ibrahim Khansa: The only known risk factor that may be associated with Apert and Pfeiffer syndrome is increased paternal age. Other than that, we really haven't been able to discover what causes these conditions.
Dr. Mike Patrick: And then, in terms of the non-syndromic which we're going to not talk about as much as we proceed. But risk factors for those I had read multiple pregnancies. Or if there's uterine issues, that make a smaller space for the baby to grow, then that could potentially be an issue with those?
Dr. Gregory Pearson: Correct.
Dr. Mike Patrick: And then let's actually really look the helm at what's happening at the bone level. So, we talked genetic mutations are ultimately at play here. But do we have a sense of what those genetic mutations do, like what's the underlying abnormality that makes there be a problem? Do we understand that?
Dr. Ibrahim Khansa: Yes. So, the most common type of mutation is the FGFR 2 and 3. So, these are fibroblast growth factor receptors. These are gain of function mutations. With the FGFR signaling does is it leads to fusion of the bone. So, eventually, when you are about between 20 and 26, your sagittal coronal lambdoid sutures are supposed to fuse. The FGFR plays a role in that. When you have a gain of function mutation in FGFR, you have increasing the link early in life that leads to premature closure.
Dr. Mike Patrick: So, again, I'm going to try to simplify this and correct me I'm wrong at any point. So, the cells have a protein on the outside of them that access a receptor. So when they get a particular signal, they're going to tell the cell to do something.
In this case, these receptors are going to tell the cell to stop growing and diffuse. But if there's a problem with that receptor , maybe it will trigger more easily or it doesn't work correctly and it tells the cell to stop growing sooner than later.
Dr. Ibrahim Khansa: Exactly. It tells the bones to basically heal together.
Dr. Mike Patrick: Basically, because the protein is made differently because our DNA kind of codes for what proteins are supposed to like.
Dr. Gregory Pearson: Basically, the cover in the brain, the dura is what is in charge of when those sutures fuse and the abnormal signaling from the dura causes protein misregulation, and therefore, early closure of the sutures.
Dr. Mike Patrick: Very, very interesting. So, how then is this diagnosed? How do we get the idea that this is going on in a particular child?
Dr. Gregory Pearson: Most of the diagnoses is done clinically because we know that the syndromes have the other associated morphological differences, hand differences, nasal differences. They can have GU issues or things like that.
A lot of diagnoses is done clinically. It's then confirmed genetically, with genetic testing and also in terms of the sutures, the synostosis, that's confirmed radiographically.
So, a lot of children, you have a strong idea of the diagnosis based upon their clinical appearance and clinical manifestation. You then confirm it with genetics and then we also get radiographs to make sure we know which sutures are fused. Because there can be variable sutures fused even within the known syndrome.
Dr. Mike Patrick: We want to avoid excessive radiation exposures for kids when we can. And there may be an instance where a primary care provider thinks, "Oh, I'll get some skull films because maybe the head isn't shaped quite the way we're expecting," or "I have a suspicion that this is happening."
But you really want to get the craniofacial team involved even before you get X-rays, correct? Because you might have to repeat things if they weren't ordered exactly the way that you would want them ordered.
Dr. Gregory Pearson: Correct. Actually, at Nationwide Children's Hospital, we have a great radiology department and they've instituted a low-dose CAT scan program here. And that's actually quite beneficial compared to skull films. It's more diagnostic, it provides better images. And if you actually look at the radiation exposure, it's less than required from skull films.
So, not only are we getting better information but we're also giving the children less radiation. So, it's really a win-win for all the people involved.
Dr. Ibrahim Khansa: And the information that we get from a CT scan, a low radiation CT scan rather than plain films is superior. It really helps us with planning of the operation.
Dr. Mike Patrick: And this is something again that folks... And we'll have information at the end of the podcast on how primary care providers can get in touch with your program. But you're willing to talk to anyone from any place, correct?
Dr. Ibrahim Khansa: Always.
Dr. Mike Patrick: And get the right films ordered when there is suspicion of these.
What's in the differential diagnosis? Are there other things that could also cause skull growth problems?
Dr. Ibrahim Khansa: Yes. So, anytime we see somebody with an abnormal head shape, the decision point that we have to make is, is this craniosynostosis? Or is this positional plagiocephaly? Positional plagiocephaly is just flattening usually on one side of the back of the head. Or sometimes, just the entire back of the head is flat.
And that's just from sleeping on the back. That's a benign condition. It's mainly cosmetic. We do things to treat that but this does not require surgery.
So, that's where the decision point is. Does this child need surgery? Do they a few sutures? Or is this just simply positional plagiocephaly?
Dr. Mike Patrick: And then, there are also things that could cause the face to look asymmetric which might make you suspect that there is a skull problem when really there's another issue?
Dr. Gregory Pearson: For example, some kids come to the clinic when they have facial asymmetry. It can be related to the positional plagiocephaly if that's severe enough. You can actually get, if so at all, the same side facial asymmetry. We have some children who have what's called hemifacial or craniofacial microsomia, which is a different entity that we treat unrelated to synostosis, and some other various asymmetries that can present Romberg disease and things like that.
Dr. Mike Patrick: And also our congenital torticollis could even create kind of a flat spot if you're lying with your head in one position and your neck has a little bit of a stiff muscle associated with it.
Is this a time-sensitive thing that you want to get diagnose? Is there an ideal time to correct this problem? What is that time frame look like?
Dr. Gregory Pearson: So, there is some time sensitivity to this. And because the early we see the patients, the better we can do for planning. We have our neurosurgeon, Dr. Drapeau, who does these cases with us. And so that allows for planning in terms of what surgeries may be needed. We can match print any signs of increase in the cranial pressure. Some of these children might need ventricular shunts.
And so, the first surgery is anywhere between a couple of months of age up to a year depending upon the severity of synostosis. A lot of these children, as I mentioned, might need more than one surgery in the cranial base. And so that allow us to plan which surgery we want to do first. Would it be the posterior or the anterior? And things of that nature.
Dr. Mike Patrick: So, and again to sort of to simplify things. If the brain continues to grow and there's a problem with the skull growing, the brain is now growing in a smaller space since. So that can cause increased pressure, which the brain doesn't like and that can cause an assortment of symptoms.
The baby can't tell you but they may be experiencing a headache and could have vomiting and those sorts of things.
And then, there's something called a Chiari malformation, that you can have an acquired Chiari malformation with this product. What is that? I'm sure that's something that parents have heard of from time to time.
Dr. Gregory Pearson: So it's essentially, and this is why managed by a neurosurgeon, it's basically an outflow problem of the cerebral spinal fluid. And it basically is a buildup and can cause pressure.
And it's not an uncommon thing in the syndromic craniosynostosis. That's something that we monitor and why some children have a posterior cranio decompression to help alleviate that problem, to increase the flow. That's why some of the children need ventriculoperitoneal shunts.
Also, if that's not alleviated.... So that's one of the manifestations that we do have to monitor these children for. And that's why we have a neurosurgeon so actively involved in that program.
Dr. Mike Patrick: So the cerebral spinal fluid kind of flows from inside the brain to around the spinal cord, then back and forth. But if there's blockage at the entrance to the skull, then that things can back up from there if the skull is not growing properly.
Dr. Ibrahim Khansa: Yeah. That's what referred to as hydrocephalus. So almost half of these patients will have some degree of hydrocephalus.
Dr. Mike Patrick: And then, the shunt is a tube that then would drain the cerebral spinal fluid out of the brain and down into the belly area.
Dr. Ibrahim Khansa: There are different kinds of shunts. Some of them drain into the belly, some drain into the big veins and the neck. Some even drain under the skin of the scalp.
Dr. Mike Patrick: Now, as we talk about this being sort of a time-sensitive issue, often, this is associated with some neurodevelopmental problems. So kids, in terms of intellectual ability, behavioral problems that can go along with this. So there would be the sense that if we correct it early, maybe we can avoid those. But that's not necessarily the case, correct?
Dr. Ibrahim Khansa: Well, there are some studies that show that earlier surgery does lead to improved neurocognitive outcomes. The main studies have shown that if you wait too long, that's really bad for the brain. The question is how early is too early?
But the point of the operations, the main point, is to provide the brain with room to grow. Which is why, and Dr. Pearson will talk a little bit more about this in a second, sometimes, the first operation we do is just to provide more room for the brain. And it's called the posterior cranial distraction. We basically just move the back of the skull backwards to give the brain more room.
Dr. Gregory Pearson: And Mike, you are correct in saying that even with all of the surgeries that we offer, some of the syndromes do have some association with neurocognitive deficits or neuropsychological issues like ADHD or autism whether the children have surgery or not.
Dr. Mike Patrick: And that may just be because there's a common issue. Maybe that genetic change that causes a problem with those receptors also causes another problem within the brain itself.
Dr. Ibrahim Khansa: Absolutely. And that's...
Dr. Mike Patrick: We don't know for sure.
Dr. Ibrahim Khansa: And that illustrates why it is really important to have a big multi-disciplinary team following these children for many years even after their operation to look in part at their speech, at their psychological outcomes, at their cognitive outcomes.
Dr. Mike Patrick: Are there clues that this could be going on so that parents and pediatric providers could perhaps identify these kids as early as possible and get them to you? What would raise the red flag that something like this could be going on?
Dr. Ibrahim Khansa: Things we worry about is if the child is vomiting a lot, if they seem really irritable. There's something called sundowning where they can't look up. Their eyes are just fixed down or straight. They can't look up. Those are all signs of increased intracranial pressure.
If they're not developing normally, that's another sign that the brain doesn't have enough room to grow.
Dr. Mike Patrick: You've talked a little bit about treatment. Let's delve into that a little more. What does treatment for craniosynostosis look like?
Dr. Gregory Pearson: So for syndromic craniosynostosis, again, there's variability based upon what sutures are fused with. The most common sutures being the coronal sutures, which go from the anterior soft spot to just in front of the ears. That can cause growth restriction for the brain to move.
And so, as Dr. Khansa said, one thing that we offer here is posterior cranial vault distraction. And basically what that is, is that we surgically slowly move the back of the scalp posteriorly or backwards with little devices. And it allows for brain growth. That's typically done within the first year of life depending upon a lot of symptoms that we follow, like we mentioned before.
That also allows for a lot of room for brain growth. And it allows us to address the anterior component later on where the results suggest that the stems stands up longer and has a better result.
Dr. Mike Patrick: The device that you're talking about, are those internal or external?
Dr. Ibrahim Khansa: They are internal. So these are plates and screws that go on the bone. They do have an arm that comes out through the skin where we use to turn the distractor. And every time we turn it, the bones move apart a little bit, and the body deposits no bone in between. So they're mostly internal, with a little arm that sticks out.
Dr. Mike Patrick: Kind of like a palate expander.
Dr. Ibrahim Khansa: Yeah.
Dr. Gregory Pearson: It's exactly the same thing.
Dr. Mike Patrick: Just a little bigger. Do babies seem to be bothered by having that process done?
Dr. Ibrahim Khansa: No, they seem really resilient. It doesn't seem to bother them much. We're doing really small movements at a time.
Dr. Gregory Pearson: About a millimeter a day. I mean a millimeter a day, which is a not a very big movement. The most common thing that the babies get fuzzy about is just having to be held still for that minute of turning the distractors. But after that, they recover quite quickly and I can sew it easily.
Dr. Mike Patrick: And that's something that the parents are taught to do at home. They don't have to come in every day.
Dr. Ibrahim Khansa: No, no. We start the process in the hospital, but when the child's ready to go home and they finish the distraction at home. We do see them once a week to make sure everything's going well.
Dr. Mike Patrick: So that procedure is really just to make more room. And then, talk about what you do with the suture line itself to allow growth to continue.
Dr. Ibrahim Khansa: So with the suture line itself, that's when we do the second operation which is the anterior cranial vault reconstruction. You may also hear the term 'front orbital advancement'. We're moving the forehead and the eyebrows forward. And that's when we really work around that coronal suture to move the entire forehead and the eyebrow forward.
Usually, it's just not about moving them forward. They're usually misshapen. So we have to reshape the bones. Usually, the kids also have a really tall skull because the brain had nowhere to grow but up. So that's called turribrachycephaly.
So sometimes, by moving the forehead forward, we kind of lower the height of the skull a little bit more normal.
Dr. Mike Patrick: That reminds me, another reason that could clue parents and pediatric providers that there's a problem is really just the misshapen skull itself. And so, it's another reason why it's important to be seen every couple of months and very early years for the well checkups. And checking head circumferences and looking at other changes in that and be really putting your hands on a kid's head and saying, "Do I feel like this is normal or not normal?" And then, referring to you folks to see if there really is a problem or not.
Dr. Ibrahim Khansa: So in addition to the abnormal head shape early on with syndromic craniosynostosis, because like Dr. Pearson said, the midface, which is the part between the eyes and the upper lip is very small and that the bones there are really small. That means the orbit itself, the boney cavity were the eyeball sits is very small.
So a lot of these kids have a very prominent eyeball. They have midface hypoplasia and exorbitism, where the eyes almost stick out a little bit. That can lead to corneal dryness and that's really important to address early on to prevent the blindness.
Another thing we have to worry about early on in infancy, and even later in life is apnea. So they can have obstructive sleep apnea because their midface is so small, it's really hard to breathe. They can also have central sleep apnea because of the underlying brain abnormalities. So these are all things that have to be paid attention to early on.
Dr. Gregory Pearson: And some of the children, depending upon the syndrome can have what's called choanal stenosis, which is tightness of the nasal passages as it enter the part between the nose and the nasal pharynx, which needs to be addressed quite early on in life as well.
Dr. Mike Patrick: It's harder to breathe through the nose when they have that.
Dr. Ibrahim Khansa: Babies love to breathe. That's how they eat.
Dr. Mike Patrick: In terms of the surgery at the suture, at the growth plate there. Is this an open procedure? Is it endoscopic? What are some of the various ways in which you can do that second operation?
Dr. Ibrahim Khansa: You can do an endoscopic operation where you basically make a small incision. You cut out the fused suture and then you do something to try to expand the skull in the opposite directions. So in this case, you want the forehead to move forward.
So sometimes that takes the form of the helmet that compresses side to side and forces the brain to grow forward. Sometimes, it takes the shape of springs that basically separate those two bones apart from each other. And sometimes, it's a distractive just like we did for the back.
The issue with syndromic craniosynostosis is usually the minimum invasive approach is what's work really well for a young child with non-syndromic craniosynostosis, those tend to not work as well in somebody with syndromic craniosynostosis.
And when you're doing a minimally invasive approach, you're really relying on the brain to push things to push the suture apart after you take out that bone. When a syndrome is present, that brain growth may not be as rapid. So in those cases, you really want to actually move the bones forward by doing an open approach.
Dr. Mike Patrick: Do you have an issue of the bone then growing back together before you want it to once you have kind of cut that kind that fused growth plate?
Dr. Ibrahim Khansa: So like Dr. Pearson had said earlier, the signaling that tells those sutures to fuse actually comes from the dura. Before surgery and after surgery, the dura is still there. You didn't touch it. The signaling is still abnormal, those FGFR protein signals are still abnormal.
So that bone is going is tend to fuse back together. When you move the bones forward, you really want to make sure you get a good advancement and that you're providing the brain with enough room to grow.
Now if the bones fused after three, four years and you don't have growth at that suture anymore, that's usually okay. Because most of the brain growth is complete by age 18 months.
Dr. Mike Patrick: Eventually, we want everything fused together.
Dr. Gregory Pearson: But that stresses the importance of the close clinical follow-up as you mentioned, Mike, the importance of measuring head circumference for these children because there are instances where you do the correct surgery. You move the anterior vault forward and do the front orbital advancement. And they do fuse earlier than you would like because of that signaling from the dura.
And some children do need a second operation.
Dr. Mike Patrick: Or a third, at this point.
Dr. Gregory Pearson: Yeah. To give their brain more growth potential. And so that's why we follow these kids so closely in our clinic and monitor them.
Dr. Mike Patrick: Now in terms of treatment and management, it's not just all about the surgery itself. There's a lot of other pieces, parts, to taking care of these kids. It's really a multi-disciplinary approach.
Dr. Gregory Pearson: Absolutely.
Dr. Mike Patrick: Who are some of the other medical professionals that are involved in their care?
Dr. Gregory Pearson: So first and foremost, we have Dr. Annie Drapeau, who is our neurosurgeon, and the other neurosurgeons that we work with helping us with the surgeries. We have a whole multi-disciplinary team. We have ophthalmologists who see the children and make sure that the fundus with the back of the eye is looking good and is monitoring for pressure.
We have dentists and orthodontists because some of these children, due to their midface hypoplasia, we need their services. We have speech therapists who follow the children for any speech and language delays. We have psychology for the neurocognitive issues.
We have nurse practitioners who make sure that they're gaining weight and feeding well.
Dr. Mike Patrick: Yeah, and genetics. Very important.
Dr. Gregory Pearson: Yeah, genetic counselor is important to mention as well.
Dr. Mike Patrick: And psychology and social work, I imagine, would also be important because in addition to the actual disease process itself, especially as kids get older. They've have a chronic illness, they've been seen by a medical professionals a lot. And that can go along with anxiety and depression and those sorts of things, too, right?
Dr. Ibrahim Khansa: The children with syndromic craniosynostosis are some of the most wonderful children because they've lived with facial differences for many years. And they come back for midface surgery around anywhere between six and ten years old, and by then, they've had three or four operations. And they've been living with these for many years. And you'd be shocked how resilient they are.
That being said, having a psychologist as part of the team is extremely important. Sometimes, it's the most important member of the team.
Dr. Mike Patrick: And for the whole family, too.
Dr. Ibrahim Khansa: Absolutely.
Dr. Mike Patrick: Because this is a lot for parents to go through to.
Dr. Gregory Pearson: And we frequently involve the child specialist as well when any intervention is planned, especially when the children have knowledge of what is coming as they enter their six to ten years of age.
Dr. Mike Patrick: Is this something that folks can come to one clinic visit and see multiple professionals and they have to have separate appointments all over the place?
Dr. Ibrahim Khansa: Absolutely. Yeah, it's a big day. They come and they spend about half the day. They see anywhere between three or six or seven practitioners from different specialties. So it's a one-stop shop.
Dr. Mike Patrick: Yeah, really convenient for families.
Dr. Gregory Pearson: And then, the other thing is at the end of the day, all the providers sit down at a table and we discuss each child individually. And we try to manage their care on an individual basis, regardless of what syndrome they have. And that I think allows us to really key in on each child's needs, allows other providers who may or may not have any contact to say, "Did you think about something else that maybe didn't come up in the initial encounter?"
And it allows us to give them a 360 kind of look at the child and making sure all their needs are being met.
Dr. Mike Patrick: Yeah, very important for families.
Dr. Ibrahim Khansa: And then, we send the summary of what everybody said, we send it to the family.
Dr. Mike Patrick: Yeah, and the primary care provider, too.
Dr. Ibrahim Khansa: Oh, definitely.
Dr. Mike Patrick: To keep them in the loop.
Dr. Ibrahim Khansa: Both of them.
Dr. Mike Patrick: In terms of long-term follow-up, once the skull is supposed to be fused together, do they graduate from your program? Or is this something that they continue for a long period of time?
Dr. Ibrahim Khansa: So let me go back to that six to ten year age group. That's when the midface is addressed. So like we said earlier, the midface really affects their breathing. So a lot of them tend to have obstructive sleep apnea when they're young children.
Their bite is way off. So usually, their upper teeth are behind their lower teeth, and it's hard for them to eat a sandwich. Usually, they have to put something on their molars to chew it because their front teeth don't touch.
Their appearance is off. That's where the syndrome really shows, is in the midface. And their eyes bulge out. So not only does that cause dryness because their eyelids may not close all the way at night. But if you take a baseball to the face, now, you don't have that orbit protecting your eyeball. The eyeball becomes the most prominent part of the face.
So those are really important things to address. Another thing that we see, especially with craniofrontonasal dysplasia is something called hypertelorbitism. The eyes are too far apart. There's a big gap between the eyes.
So these are all stigmata of the syndrome, that when they're about six to ten years old, we can address all of these with midface surgery. That can take the form of just moving the midface forward or splitting the face to narrow the distance between the eyes.
And what that does is it improves breathing, improves the distance between the eyes, improves appearance significantly, gets their bite in a much better position, and gets their breathing better, and protects the eyes.
And then, when they're teenagers, when they're done growing, that's when we do the final jaw operation to get their bite into perfect position.
Dr. Mike Patrick: And this sounds like it can really be life-changing for a child compared to before these sorts of procedures were available. Do you find that there's any problem, like with insurance companies covering these sorts of services? Or this is definitely something that you don't have to fight for?
Dr. Gregory Pearson: This is definitely something that we don't have to fight for.
Dr. Mike Patrick: Anymore.
Dr. Gregory Pearson: Anymore, yeah, thankfully. So we do...
Dr. Ibrahim Khansa: We're not scared of fighting. We'll fight.
Dr. Gregory Pearson: Yeah. But we make sure that we get everything pre-authorized and pre-certified. But realistically, because there's known syndromes and known outcomes of what is needed, it's not really that fight anymore. It just allows us to provide good, continuous care.
Dr. Mike Patrick: I imagine from a parent's standpoint, when you're describing what you're going to do, there can be some anxiousness. And there really are possible complications with surgical procedures. How do you explain to families that the benefit of what you're going to do really outweighs the complications? And are there significant complications?
Dr. Ibrahim Khansa: There are potential complications. And what you don't want to do is sugarcoat it. That's what you don't want to do. Because after midface surgery, these children, usually, they stay asleep intubated in the ICU for five days. And then, it takes one two weeks for them to go home. So the parents will see everything.
So it's really important to tell them everything that's going to happen before it happens. We explain all the benefits, meaning the eyes, the breathing, the appearance, and the bite to them beforehand. And they're usually very eager to have the operation knowing how difficult it will be.
That being said, it's usually very safe operation. The main two things we worry about is we're operating very close to the eyes, so we don't want to stretch the optic nerve when removing the midface forward. So that's one thing we pay very strong attention to.
And number two is getting what's called CSF leak which is leakage of the fluid which sits around the brain from the nose. So those are the two things we watch out for.
Dr. Gregory Pearson: And for the cranial surgery, which happens earlier in life, again, we discuss all the risks and benefits. And we go into great detail about the goods and the bads of the surgery. That being said, one thing I'm really most proud of is we have an excellent safety history here at Nationwide Children's Hospital for children with craniosynostosis, whether it be syndromic or non-syndromic which is comparable, exceeds most centers that perform these operations.
And we do these surgeries, the cranofacial surgeon and the neurosurgeon are there the entire time during the surgery just making sure that everything is going smoothly and as safely as possible.
Dr. Mike Patrick: And if there was an unexpected issue, the right expert is there ready to jump in if that's necessary.
Dr. Gregory Pearson: Correct.
Dr. Mike Patrick: And what about long-term outlook into adulthood? Is this again, once you've corrected the facial issues in that six to ten year range, are we done at that point? Or can we still have...
Dr. Gregory Pearson: As Dr. Khansa said, some of the children will need a final jaw surgery when they're in their late teens because even though we've moved that midface forward, the dental relationship can still be opposite. That's one thing that we follow.
There's counseling that can go on because a lot of these people will become adults, and what to discuss when they have children, what to expect. So we get our genetics counselor back involved there.
And again, it really vary so much by syndrome. A long-term follow-up is really required until they're really into their 20s. We tend to follow these children. They're not children anymore, but we do until about 21.
Dr. Mike Patrick: Yes, they still are children.
So we will put a link to the Center for Complex Craniofacial Disorders so folks can learn more about your program and how to get in touch with you if they're interested in that. It's a really a wonderful multi-disciplinary center for folks with these issues.
What are some of the other services offered by Plastic and Reconstructive Surgery at Nationwide Children's? You guys are a really busy group.
Dr. Ibrahim Khansa: We are. We do everything from head to toe. Let me add one thing, for syndromic craniosynostosis patients, especially Apert syndrome, who have hand abnormalities, we have a very good hand surgeon named Kim Bjorklund. And she deals with all the syndactylies of Apert and other hand abnormalities.
Dr. Mike Patrick: She'd been on the show before talking about brachial plexus.
Dr. Ibrahim Khansa: Yeah, she's quite famous. So we have a very large Cleft Lip and Palate Center where, again, every patient is seen by a large team, very multidisciplinary. We have a 22q Center that deals with 22q Deletion Syndrome.
Dr. Mike Patrick: Dr. Richard Kirschner, and he's been on the show before, too.
Dr. Ibrahim Khansa: He's quite famous, too. And Adriane Baylis, they work together with 22q patients.
We have a busy Adolescent Breast Program for teenage women who need a breast reduction for symptomatic macromastia. We have a very big Hemangioma and Vascular Malformations Program. We also see lots of pigmented lesions, cysts, any other lesions that need to be removed.
Dr. Mike Patrick: Great.
Dr. Ibrahim Khansa: Did I miss anything, Greg?
Dr. Gregory Pearson: No, nothing.
Dr. Mike Patrick: No, lots going on. And I'm going to put several links in the show notes for folks who are interested in learning more about what you folks do. We'll have a link to the plastic and reconstructive surgery website at Nationwide Children's Hospital and the Center for Complex Craniofacial Disorders as I mentioned.
We'll also have links to some past PediaCast programs, including one on microsurgery when Dr. Maya Spaeth was still with us. We did one on hand injuries, brachial plexus, facial reanimation. That was Episode 172.
Dr. Kirschner stopped by to talk about 22q in Episode 226. Dr. Pearson, you were here when we talked about lots of different reasons for abnormal baby heads. We talked about craniosynostosis, positional plagiocephaly, microcephaly, and macrocephaly. That was Episode 368.
And then, as I mentioned, Dr. Kim Bjorklund was here for Episode 381, where we covered brachial plexus injuries.
I'll put links to all of those in the show notes for this episode, 440, over at pediacast.org, so folks can listen to those and learn more about what you all do.
Dr. Gregory Pearson: Thank you.
Dr. Mike Patrick: My pleasure. Thank you once again Dr. Gregory Pearson and Dr. Ibrahim Khansa from the Center for Complex Craniofacial Disorders at Nationwide Children's. Thanks so much for being here today.
Dr. Ibrahim Khansa: Thanks for having us.
Dr. Gregory Pearson: Thank you for having us.
Dr. Mike Patrick: We are back with just enough time to say thanks once again to all of you for taking time out of your day and making PediaCast a part of it. Really do appreciate that.
Also, thanks to our guests this week, Dr. Gregory Pearson and Dr. Ibrahim Khansa, both with the Center for Complex Craniofacial Disorders here at Nationwide Children's Hospital.
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