22q11.2 Deletion Syndrome – PediaCast 568

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  • Dr Richard Kirschner, Dr Adriane Baylis, and Chaitali Amin visit the studio as we explore the 22q11.2 Deletion Syndrome. We discuss this genetic condition’s cause, features, diagnosis, management, and long-term outlook. We hope you can join us!

Topics

  • 22q11.2 Deletion Syndrome
  • DiGeorge Syndrome
  • Velocardiofacial Syndrome
  • Cleft Palate
  • Velopharyngeal Dysfunction
  • Speech Therapy

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Episode Transcript

[Dr Mike Patrick]
This episode of PediaCast is brought to you by the 22Q Center at Nationwide Children's Hospital. Hello everybody 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's episode 568.

We're calling this one the 22Q11.2 deletion syndrome. I want to welcome all of you to the program. Today we're going to explore a genetic condition known as the 22Q11.2 deletion syndrome. It goes by 22Q for short. And it also has some other names, particularly ones that were used historically when we really didn't know what caused 22Q. We know now that it's a genetic condition.

It involves the 22nd chromosome and a particular section of the chromosome which is missing and that's why it's called the 22Q11.2 deletion syndrome. Before we knew that that was the cause, you know, a lot of these genetic syndromes before we knew what caused them, all we could do is say, well, these particular signs and symptoms always seem to go together and then call that a syndrome even though we didn't know back then exactly what caused that syndrome. And so, the initial name was DiGeorge syndrome, named after the physician who first described the symptoms all going together.

And then it started to be called the velocardiofacial syndrome as we thought about the particular body systems that were most commonly involved. So, it had that name for a while. But as we discovered the real cause of this syndrome, then the name 22Q11.2 deletion syndrome, 22Q for short, really stuck. But what exactly is this syndrome? You know, again, what causes it? What are the signs and symptoms?

How is it diagnosed and managed? What resources and referrals are necessary? And what is the long-term outlook for those impacted by 22Q?

You know, as a genetic syndrome, it is there during infancy, during the elementary school years, the teenage years and on into adulthood, the particular needs at those different ages is going to be different. And so, we'll talk about what those needs are as we travel on our journey of learning more about 22Q. We'll have the answers to all of those questions and many more on the podcast today.

Now, if someone in your family or someone close to you is living with 22Q, you've probably heard of this condition and have a basic understanding of just how complex that it can be. However, many in the audience today may never have ever heard of 22Q. You know, technically it's considered a rare genetic disorder, but it's pretty common for a rare condition occurring in about one in every 2,000 to 4,000 live births.

And you've heard me say this before, even if your family is not impacted by 22Q, even if you've never heard of the condition, stick around because I think you'll find the science behind the syndrome interesting. And it's always good to understand the challenges that others face as we strive to support one another in our communities. Of course, in our usual PediaCast fashion, we have three terrific guests joining us for the conversation.

Dr. Richard Kirschner is Chief of Plastic and Reconstructive Surgery, Director of the Cleft Lip and Palate Center and Co-Director of the 22Q Center at Nationwide Children's Hospital. Dr. Adrian Bayliss is Director of our Velopharyngeal Dysfunction Program and also Co-Director of 22Q Center at Nationwide Children's. And Chaitali Amin is a Certified Nurse Practitioner with the 22Q Team in Plastic and Reconstructive Surgery at Nationwide Children's Hospital.

Don't forget the information presented in our podcast is for general educational purposes only. We do not diagnose medical conditions or formulate treatment plans for specific individuals. If you're concerned about your child's health, be sure to call your health care provider.

Also, your use of this audio program is subject to the PediaCast Terms of Use Agreement, which you can find at PediaCast.org. So, let's take a quick break. We'll get our experts settled into the studio, and then we will be back to talk about the 22Q 11.2 deletion syndrome. It's coming up right after this. Dr. Richard Kirshner is Chief of Plastic and Reconstructive Surgery at Nationwide Children's Hospital. He also serves as Director of our Cleft Lip and Palate Center, Co-Director of our 22Q Center, and he is a Professor of Plastic and Reconstructive Surgery at The Ohio State University College of Medicine.

Dr. Adrian Bayliss is a Speech Scientist, Craniofacial Speech Pathologist, and Director of the Velopharyngeal Dysfunction Program at Nationwide Children's. She also serves as Co-Director of our 22Q Center, and she is an Associate Professor of Plastic and Reconstructive Surgery at Ohio State. Chaitali Amin is a Certified Nurse Practitioner with Plastic and Reconstructive Surgery and the 22Q Team at Nationwide Children's.

All three have a passion for supporting patients and families impacted by the 22Q 11.2 deletion syndrome, which, as it turns out, is our topic today. But before we get into that, let's offer a warm PediaCast welcome to our guests, Dr. Richard Kirshner, Dr. Adrian Bayliss, and Chaitali Amin. Thank you all so much for being here today.

[Dr Richard Kirschner]
Thanks, Dr. Mike. It's great to be here with you and your listeners.

[Dr Adriane Baylis]
Thanks for having us today.

[Chaitali Amin, FNP]
Thank you for having us.

[Dr Mike Patrick]
Yeah, we are really excited to dig into 22Q, and I think, Dr. Kirshner, probably a good place to start is with definitions. What exactly is this syndrome?

[Dr Richard Kirschner]
Absolutely. 22Q 11.2 deletion syndrome, which we'll call 22Q for short, is a genetic condition that, in the past, before the specific genetic cause of the condition was identified, was called by various names like DiGeorge syndrome or velocardiofacial syndrome. 22Q is caused by the absence of a small piece of genetic material containing about 30 to 40 genes from the 22nd chromosome.

So, the genes in our body are grouped along tiny rod-like structures in our cells that are called chromosomes, and normally each cell has 23 pairs of these chromosomes. One chromosome in each pair comes from the mother, and the other one comes from the father. So, on each chromosome, there's what we call a long arm or the Q arm and a short arm or the P arm.

22Q 11.2 deletion syndrome happens when a small piece of the genetic material on the long arm of one of the 22nd chromosomes in each cell is missing or deleted. Now this tiny deletion can actually result in abnormalities that affect many parts of the body, as well as numerous developmental and behavioral challenges. Now while children with 22Q often have many features in common, every single child with 22Q is unique.

So, some have many medical problems, whereas others have only a few. Some of the abnormalities associated with 22Q are present at birth, and others may not appear until the child is older.

[Dr Mike Patrick]
And what are some of the common things that we see that go along with this?

[Dr Richard Kirschner]
So, the manifestations of 22Q include many of the different organ systems of the body. So commonly we'll see congenital heart conditions that are associated with 22Q. But as I said, sometimes not all these manifestations are present.

So, some children are born with cardiac differences and others are not. There are also abnormalities that we see in the immune system in some patients, in the endocrine system in some patients. Many children have palatal abnormalities and speech abnormalities, and these will often go along with developmental or behavioral abnormalities.

We often see a number of psychological or even psychiatric manifestations of the condition as well.

[Dr Mike Patrick]
Yeah. And then how common is this? And I'll also ask if it runs in families, which I'm suspecting maybe it does, since there's a genetic basis to this disorder.

[Dr Richard Kirschner]
Yeah, absolutely. So 22Q is seen in about one in every 2,000 to 4,000 children born, and most of the time the deletion actually is not passed down from the parents. It's usually a new genetic change that happened before conception.

In the children that we see with 22Q, the deletion is inherited from a parent only about 7% of the time. But if a parent does have 22Q, their children will each have a 50% chance of inheriting the syndrome, and this is what we call autosomal dominant pattern of inheritance.

[Dr Mike Patrick]
And then how do you end up making the diagnosis? I would suspect that if you are seeing the grouping of things that you talked about, heart problems, cleft palate, and other things, that you would sort of get an idea that this might be going on, and then is there some testing that you do?

[Dr Richard Kirschner]
Yeah, absolutely. So actually, before the actual genetic cause of 22Q was identified, the diagnosis was really made based upon the constellation of symptoms that children presented with, and that's why there are various names for the syndrome, because some children presented with primarily immune abnormalities and heart abnormalities, and many of these children were grouped under the diagnosis of DiGeorge syndrome. Other children may not have necessarily had those manifestations of the syndrome but had the characteristic facial appearance that we now associate with 22Q, and cardiac problems, but not necessarily the endocrine abnormalities, and they were grouped under a diagnosis known as velocardiofacial syndrome.

But now we know the actual genetic basis, and so the diagnosis of 22Q11.2 deletion syndrome is confirmed by a lab test that can actually detect the deletion in chromosome 22. So, in the past, we most often used a DNA probe test called a FISH test, which was short for fluorescence in situ hybridization, but now we most often use what's known as a chromosomal microarray analysis, and this is a genetic test that provides us with more detailed genetic information.

[Dr Mike Patrick]
So, you're able with that test just to actually visualize that there is a piece of the 22 chromosome that's missing?

[Dr Richard Kirschner]
Exactly. It can detect that that piece of the chromosome is missing, and actually give us a little bit more detail of exactly, for example, the size of the deletion, the chromosome, etc. Is there ever a prenatal diagnosis?

So prenatal diagnosis is possible. Prenatal testing can be carried out, for example, if there is a mother who has 22Q, who is carrying a child, and they want to make the diagnosis prenatally as to whether or not that child is affected.

[Dr Mike Patrick]
And on a routine ultrasound, maybe they see a particular heart defect, and then is that how you might get the idea that this could be going on?

[Dr Richard Kirschner]
Exactly.

[Dr Mike Patrick]
And then I want to switch over to Chaitali. As a nurse practitioner in the clinic, I'm sure you're very familiar with the kind of tests and referrals that a child might need after the diagnosis is established. What are some of the things that these kids need, the specialists that they need to see, and the resources that are going to be impactful for the

[Chaitali Amin, FNP]
Yeah, so once the diagnosis is confirmed, it is very crucial to get the referral to the 22Q center if it's all possible, or a genetics specialty, to determine what tests or exams child may need, as 22Q deletion syndrome is very complex, and it affects multiple systems and organs in the body.

If the child comes to 22Q center, then those specialized provider can assess and determine what tests they already have done, and what they need. But in general, the referral to cardiology is probably needed, as many children with 22Q have heart defect. And as Dr. Krishna mentioned earlier, like often this gets detected prenatally, but not always. And in that case, thorough assessment by cardiology is necessary to determine if there are any congenital heart issues that may need to be addressed. It also affects the immune system. So, referral to an immunology may be needed to evaluate immune function and potentially manage immune deficiency if that's present.

Low calcium, low parathyroid hormone, high or low thyroid hormone, and also growth hormone deficiency can also be seen. And in that case, endocrinology evaluation is necessary. Kidneys can also be affected.

So simply renal ultrasound can be ordered by the initial provider who diagnoses these children with 22Q. And if there are any abnormalities identified per kidney ultrasound, such as missing kidneys, small kidneys, or extra fluid around the kidneys, then maybe it's necessary to see a nephrology for the comprehensive assessment. Also, the thorough eye exam and dental exams are also recommended upon diagnosis.

And referral to a plastic surgeon if it's not already part of your 22Q center is also necessary to rule out any kind of palatal abnormalities as it is seen in about two-thirds of the children with 22Q. So, in general, EKG, echocardiogram, kidney ultrasound upon diagnosis is needed to rule out any congenital deformities, audiogram for hearing checks, and a wide variety of labs including but not limited to like calcium, magnesium, phosphorus, parathyroid hormone, thyroid hormone, and complete blood count. And also, immune labs are needed at the time of diagnosis.

[Dr Mike Patrick]
Yeah, that's a lot. And a lot to remember too. And I think that that's going to be one of the it's so important that these kids are really taken care of in a center that has the expertise and the experience dealing with the impacts caused by 22Q.

And so, I'm sure that you guys have thought about guidelines and sort of standardizing care and making sure that these kids get to all the places where they need to go. Are there established guidelines that are published for caring for these children?

[Chaitali Amin, FNP]
Yes, there are established clinical guidelines and recommendation for managing patients with 22Q. This guideline first published in 2011 and was updated in 2023 based on the latest research and clinical experiences. The guideline focuses on managing children with 22Q deletion syndrome, managing adults with 22Q deletion syndrome, and also immunological management of 22Q deletion syndrome.

And these guidelines are wonderful as it outlines the recommendation and provides guidance to manage 22Q deletion syndrome in a comprehensive manner. And the test that I mentioned earlier, those are all outlined in these current guidelines.

[Dr Mike Patrick]
Yep. And we'll put links in the show notes for folks. We'll have links to clinical practice guidelines for managing children and then also adults with 22Q.

And then there's another guideline that really deals with the immunological management of the disorder. So, we'll put the links to all of those resources in the show notes over at PediaCast.org. Dr. Kirshner, you know, I think the palate issues a lot of times are the things that are first noticed, like after baby's born, you know, because they're opening their mouth and crying, and you see what's happening there. Can you talk a little bit about the differences in palate structure that we commonly see with this disorder? Because it's not just one thing, right? There are different kinds of abnormalities we can see with the palate.

[Dr Richard Kirschner]
Exactly. And again, every child with 22Q is different. But as Chaitali mentioned, palatal abnormalities are very, very common in 22Q.

In fact, most kids with 22Q have some palatal abnormality that we can detect. A small number of children with 22Q are born with a true cleft or split in the palate that you can, for example, see when they're crying when they're newborns. More are born with what we call a submucosal cleft palate.

So, when a submucosal cleft palate is present, the palate doesn't actually look split because the mucous membrane is intact, but the muscles inside the soft palate are split. This can be a difficult diagnosis to make. In many children with 22Q and a submucous cleft, the uvula, or the small little finger-like projection at the back of the soft palate, is split in two, or what we call a bifid uvula.

But the signs of a submucous cleft in 22Q may be very subtle or absent. And then finally, many children with 22Q are born with a palate that structurally, anatomically, is completely intact, but it still doesn't work properly for speech. And this is what is referred to as VPI or VPD, which is short for velopharyngeal dysfunction.

[Dr Mike Patrick]
So why is it important that we evaluate for these conditions, even the ones that maybe aren't immediately noticeable? Can they still make a difference in terms of function? And when should that kind of evaluation take place?

[Dr Richard Kirschner]
Yeah, so we certainly can't underestimate the importance of normal-sounding speech and good communication abilities as children develop. So, palate abnormalities in VPD in children with 22Q can vary from very, very subtle to very severe. Effective management of VPD in children with 22Q really requires a combination of proper speech therapy and surgery.

And so careful evaluation of the palate and of speech by a team of specialists is really critical to achieving the best speech outcomes possible. And this starts really shortly after birth with a really good intraoral examination and evaluation of the structure of the palate. And as the children develop, the work alongside an experienced craniofacial speech pathologist is really essential to ensure that the speech is developing normally and that we aren't finding signs or symptoms of VPD.

[Dr Mike Patrick]
When you talked about that submucosal cleft palate, is that something that you can see or feel, or does imaging have to be done to tell if that's occurring or not?

[Dr Richard Kirschner]
So, you can typically diagnose a submucous cleft with an experienced eye. Very often, as I mentioned before, the uvula, the little finger-like projection at the back of the soft palate is split or bifid. If you feel the back of the hard palate, which is made of bone, typically there's a little point or a little spine at the back of the hard palate.

But when a submucosal cleft is present, instead of a little spike there, there's a little notch. And then sometimes in the center of the soft palate, there's a little translucent zone, or what we call a zona pellucidum, where the muscles that are split are not present, so the palate is a little bit more translucent in that area.

[Dr Mike Patrick]
And if you have any of these palate differences, it can result in something called velopharyngeal dysfunction, which we mentioned when we introduced Dr. Bayliss, and we'll talk more about the impact of that on speech. But what exactly is velopharyngeal dysfunction? And how does that impact speech, Dr. Kirshner?

[Dr Richard Kirschner]
So, the mouth and nose are normally separated by the palate, and the palate is made up of the hard palate in the front and the soft palate, or what we call the vellum in the back, so that's where velopharyngeal dysfunction comes from. The mucous membrane of the hard palate covers bone, while the mucous membrane of the soft palate covers muscle. So, this is really sort of the business end of the palate, is the back part of the soft palate.

The muscle in there is called the levator muscle. So normally that levator muscle runs across, or horizontally, in the middle of the soft palate, and during speech and swallowing, that muscle acts to lift the soft palate. So, the soft palate and the throat, or the pharynx, in the back of the palate form sort of a valve that we refer to as the velopharyngeal valve.

This valve normally stays open during quiet nasal breathing and closes so that food and air don't enter the nose during swallowing and speaking. So, when this valve doesn't close completely during speech and allows air to leak into the nose when it should not, this is what's known as velopharyngeal function, or VPD. So, there are several reasons why kids with 22q may have VPD.

Some may have, as we talked about, a cleft palate or a submucosal cleft palate. In other children, the palate may be normal in structure, but it's just too weak to properly close the valve during speech. And then in many cases of 22q, VPD results from what is referred to as velopharyngeal disproportion.

So, in order for this valve to work properly, there needs to be good coupling between the valve area, or in this case the depth and the width of the throat, and the length of the palate which is going to be used to close that valve. So, in many kids with 22q, we find that the pharynx, or the throat, is deeper than normal, and so the palate is relatively too short to close the valve. Patients with VPD then have speech that sounds nasal and not very clear as air resonates through the nose when it should not, and sometimes the air can actually be heard escaping through the nose during speech.

In addition, VPD can be associated with articulation or pronunciation errors. So combined, this change in tone or resonance, this nasality or hypernasality, in addition to these articulation errors, this can lead to speech that's very hard for others to understand.

[Dr Mike Patrick]
And then I would suspect that speech therapy then is going to be important for these kids. Whether they have a surgical correction or not, they're still going to need some speech therapy in order to maybe use a little bit different mechanics in order to achieve articulation that folks can understand. Dr. Bayliss, can you talk a little bit about that?

What exactly speech therapy does for these kids and why it's important?

[Dr Adriane Baylis]
Sure, thank you. To follow up on what Dr. Kirshner was discussing, speech therapy is one of the most common needs of children with 22q, and that's even if there isn't VPD. So VPD occurs in about 75% of children with 22q, but about 90 to 95% will still need speech therapy, regardless of even that factor too.

Because the syndrome is so variable, the speech presentation is also highly variable, but speech-language delays or various communication disorders are perhaps one of the most universal features of 22q. Most children will begin speech therapy as an infant or toddler in the first year or two of life, and then it will continue for many years and sometimes even into the teenage years for some of our patients. The needs or the type of therapy will shift over time.

So, in the beginning, we're working on developing early speech sounds or words or learning basic communication skills, later becoming more sophisticated and working on sounds and eliminating speech errors or articulation errors, and also working on language skills such as grammar or how we understand or produce sentences. In older children, it's not uncommon for speech therapy to shift to working on things like figurative language and understanding humor or sarcasm or even nonverbal cues about communication like our body language and facial expressions, as well as how to converse with peers and engage in a conversation appropriately with different communicative partners. Some children with 22q experience much more substantial delays in their speech and language skills and may even rely on nonverbal modes of communication.

So, some children will use a combination of perhaps sign language or picture systems or even an iPad or AAC device, which is basically a computerized talking device so the child will select different items that speak for them. And so, we do see high variability in early communication profiles as well as outcomes with this syndrome.

[Dr Mike Patrick]
When you talk about starting speech therapy as early as one or two years of age, what does that look like in terms of, I'm sure you're not getting a lot of cooperation from the patient.

[Dr Adriane Baylis]
Yes, initially not too much. It's very parent focused. So, in the very beginning, perhaps at age six to 12 months, we as SLP speech pathologists are meeting with families to provide education and counseling, information about risks associated with 22q, and assessing the baby's pre-linguistic or basically pre-speech skills.

So how they're starting to interact with their family members, display eye contact, displaying of gestures like waving bye-bye, for example, and beginning to babble and make early speech sounds. Then the emphasis is very play-based. So, we start working on using our words to communicate, right?

Requesting things, labeling things that we see in the child's environment. How do they begin to start putting their words together? And then again, helping the child learn to pronounce sounds correctly as they get older.

So, therapy starts much more parent directed in the beginning, then looks very play-based and toddlers shifting to more structured speech therapy. So, table time, if you will, right where we're sitting down practicing our words or our sounds in more drill related tasks, reinforcing the child's correct speech behaviors or language skills, and then really shifting over time in an individual basis. Some children may be working on these skills for many years in a one-on-one basis.

Others may do best in a group where they're practicing conversational skills, for example, or social skills. So, it just depends on the nature of that child's specific needs in the therapy setting.

[Dr Mike Patrick]
Yeah. You know, I'm wondering that there's probably some kids that you have seen who maybe did not get speech therapy started at an early age. Can you describe the impact that early start, you know, even with the parents and then moving on to the toddler years, then the elementary years, then by the time you're a teenager, the difference that that early intervention really makes in the lives of these kids?

[Dr Adriane Baylis]
Yes, especially for intelligibility or clarity of speech, beginning to work on accurate sound development very early is key. We know that there's only a certain number of years where a child is able to acquire speech sound production skills and to change those patterns of how they use the articulators of their mouth, their lips, their tongue, their palate, et cetera, to coordinate and produce normal speech sounds. And if we don't intervene early enough to establish correct sound or to eliminate errors early to then get correct sounds into their place, some children will really struggle to ever eliminate some of these very maladaptive or atypical articulation patterns that we can usually detect by the age of two or perhaps three.

So, it is important to establish not only with speech therapy, but with a 22Q center that has a speech pathologist familiar with the types of speech errors of children with 22Q. And if it's not a 22Q team SLP, then it may be a cleft lip and palate center speech pathologist who's also familiar with these types of speech profiles. So, we always encourage parents to seek out both that expert speech pathologist diagnostic ear as well as working with their community speech pathologist, whether that's an early intervention or in the school or private practices, because typically most of our patients have more than one speech pathologist involved in their care working together to basically identify and develop the right treatment plan and implement it.

[Dr Mike Patrick]
And in addition to speech, especially for these little babies, do they sometimes have feeding issues along with the potential for speech, you know, not to develop correctly? And I imagine speech and language pathologists, there's kind of an overlap there, right, with occupational therapy in terms of helping kids with feeding disorders. But is that something that you guys also take care of?

[Dr Adriane Baylis]
Yes. Many of the infants with 22Q will have feeding and swallowing difficulties. That often requires a multidisciplinary approach in and of itself because some of these difficulties may be more sensory or behavioral based.

Others may be medically based and need to involve a GI physician, for example, or ear, nose and throat physician as well. So, the team, again, really needs to assess a treatment plan together to make sure that the most appropriate treatment recommendations are made and implemented. Occupational therapists and speech pathologists, either of them may be involved in that child's feeding care, depending on the institution or where you live.

And some of them may have both working together, for example. Children with 22Q also may have motor delays, hypotonia. So physical therapy is also involved in their care team, as well as different behavioral therapists or psychologists who are helping support cognitive behavioral difficulties, which are very, very common in the syndrome as well.

[Dr Mike Patrick]
And, you know, you put an emphasis on articulation therapy and helping kids, you know, be able to form sounds and pronounce words correctly. Dr. Kirshner had talked about the resonance in the nasal cavity. Is that something that also you can help kids with?

[Dr Adriane Baylis]
That's a great question. And we get that one frequently from families. So, speech therapy, or specifically articulation therapy, can help a child produce correct sounds or learn sounds correctly, but it does not change or eliminate hypernasal speech.

It does not fix or cure the underlying velopharyngeal dysfunction. Speech therapy cannot make the palate work harder or get stronger or close off the valve better if inherently the palate's too short or it doesn't have enough functional movement or strength to do so. We know that surgery is the best treatment for VPD or hypernasal speech.

And then speech therapy is really a complement to that to work on the pronunciation of sounds. So, with surgery and therapy combined, you would achieve the best speech outcome together.

[Dr Mike Patrick]
Great. And then one other question I had that came up in my mind, you talked about useful devices and things other than actually speech. So, sign language, helper devices, is that something that can become kind of a crutch and delay speech?

Or is it sort of a gray zone in knowing when to use those things and maybe when to avoid them?

[Dr Adriane Baylis]
So, what you're referring to is basically the area of augmentative and alternative communication or AAC. This is a really growing area of the field of speech language pathology right now. And what the research has shown is that using various AAC approaches, either low-tech or high-tech, actually can facilitate speech and language development in children, especially as they are still acquiring more vocabulary or learning to combine words together to get their wants and needs met.

The only caveat is that in a child who's attempting to be verbal, a child who is attempting to speak, to express themself, and perhaps is just hard to understand, we need to make sure we're spending just as much or more time on their speech production skills and speech practice so that we don't lose that window of motor speech development where a child can develop those sounds and then come all of a sudden, you know, when they're six or seven years of age, and now we're going to work on sound development.

So, they may be used in tandem to decrease the child's communicative frustration, right? They have a device to get their needs and wants met, but just as much emphasis and therapy is being spent on acquiring accurate sound production, too, if that child is showing good, you know, progress with attempting speech communication skills.

[Dr Mike Patrick]
Yeah. And I think frustration was a good word to use because I imagine that there's a lot of frustration on the part of the child and the part of the parent as well. And, you know, the kid just wants to be understood, and a lot of times the parent just wants to be able to understand what their kid is saying, and that can sometimes cause some conflicts, I would imagine.

What are some other therapies and developmental support that's going to be important for these kids?

[Dr Adriane Baylis]
So lastly, you've hit on a few of them. So, feeding therapy, occupational therapy, as well as physical therapy, just due to the range of sensory and motor delays that are present in this population. And a fair number of children, up to about 30 or 40 percent, will also even present with things like autism spectrum disorder, which can require those types of therapies as well as other intensive behavioral supports.

Lastly, just cognitive behavioral therapies or parent-related supports to managing their child's behavior are often recommended just due to high rates of general behavioral difficulties and developmental delay that are seen frequently in 22Q.

[Dr Mike Patrick]
Great. And then one of the other things that Dr. Kirshner had mentioned was learning difficulties in these kids. Chaitali, can you talk a little bit about learning difficulties and why and which ones are common with 22Q?

[Chaitali Amin, FNP]
Yeah, so learning difficulties just across the board is very common as we have seen that these children with 22Q deletion syndrome have intellectual level in mid to borderline range. So, we do see that, you know, they just need a little extra support as they have difficulty due to, you know, cognitive deficiency in attention, memory, and executive functions. And as Dr. Bayles mentioned, that we cannot forget about autism and ADHD that's seen in these children, and they can also play a huge role into this learning difficulties, and especially if it's left untreated, especially ADHD. In younger children, we see learning difficulties not only because of the low IQ, but also because of the low motor tones. They often have low muscle tones, so difficulty using like, you know, their muscles. So cognitive and low motor tone, when you combine those two, we see that they do often face pretty significant learning difficulties.

[Dr Mike Patrick]
And when we're talking about kids that are at the age that they're learning, the school obviously is important as an important partner in supporting these kids. In particular, what areas and skills require the most support at school?

[Chaitali Amin, FNP]
Yeah, so first of all, it's important for these children to have really comprehensive IEP or a 504 plan to be actually successful into the school. And again, as Dr. Bayles mentioned, they may need like physical therapy, occupational therapy, speech therapy, feeding therapy, extra time for homework or test-taking, and extra help with like math and reading. Those are the areas that they require majority of the help.

I mentioned earlier about the low muscle tone. So, they sometimes just cannot keep up with their peers. So adaptive PE may be also considered at school.

And also, we often see like social anxiety and sensory issue if they have underlying autism diagnosis. So maybe a smaller classrooms or one-on-one aid may also be considered. And parents might have a question like, how do I know what help my child needs at school?

So, the school does the assessment, but on top of that, I want to stress the importance of getting neuropsychology evaluation to identify the area of deficits and support this child may require. This neuropsychology evaluation focuses mainly on learning abilities, cognitive abilities, focusing, and other factors they may impact school performance. And once this evaluation is done and then parents have that support, they can take this report to the school to help build the IEP to ensure the child gets all the supports that he or she needs at school to be successful.

[Dr Mike Patrick]
And I would imagine that just like lots of other chronic illnesses, there's also a level of anxiety and even depression that can take place, especially if you're really trying to do your best in school and struggling. And you see your friends who maybe aren't struggling, and then that can lead to anxiety and then eventually depression. Can you talk a little bit about the importance of screening for mental health issues in these kids?

[Chaitali Amin, FNP]
Yeah, absolutely. So, you know, you mentioned about the generalized anxiety. So, we see about 30%, 35% of the time, children usually have some sort of anxiety.

So that can include either social anxiety, generalized anxiety, anxiety for healthcare providers or, you know, just to be successful at school. And the underlying factor can be ADHD. We see about 40% of the children get diagnosed with ADHD, and 30% of the children will get diagnosed with autism.

So, anxiety is a participating factor that we see often. And knowing that prevention for any psychiatry illnesses, it's not there. So then early detection, and then when they need the treatment or the, you know, either whether it's a medication or the behavioral therapy, as mentioned by Dr. Bayles earlier, may help with the progression of the symptoms. In older children or adolescents or young adults, we also see about 10% of the time the worsening of the anxiety or schizophrenia. So that's also very important to recognize the signs and symptoms and get help as early as possible with either psychiatry, psychology, or with your primary care doctor.

[Dr Mike Patrick]
Speaking of primary care doctors, you know, if a family lives in like here in central Ohio or really large metropolitan areas where there is a large children's hospital, we have a fabulous 22Q Center that can sort of take charge of, you know, not the childhood immunizations and the well checkup, but a lot of, you know, the body systems that a child might have involved in 22Q. They got all their specialists lined up and maybe even can get, you know, see different specialties on the same day and all of that. But the farther away that you live from a big metropolitan hospital, it may be more difficult to get all of these things done.

What is the role of the primary care provider then in kind of directing things, but then also having the support of a 22Q Center? I imagine that's still going to be important. How does that all fit together in families that maybe live a little farther out?

[Chaitali Amin, FNP]
Yeah, so we work very closely with primary care doctor. Our actually whole team works very closely with primary care physicians, and we do see patients like across all over the U.S. So, they could definitely send a referral to multidisciplinary 22Q team if it's all possible. But sometimes it's not possible for patients to travel across the board.

So, in that case, routine comprehensive assessment and screening for 22Q guideline is very important to do that routinely. And also, if a child is showing any signs and symptoms of either ADHD or autism, then, you know, further testing should be considered on an early stage. Referral to developmental behavioral pediatric or psychiatry or 22Q team should be considered to target those anxiety and other psychotic disorder to prevent major complications.

Routine blood work should also be considered to catch those early signs of low calcium and low parathyroid hormone because if it's cut on early stages, then the treatment is, you know, easier and outcomes are a lot better. And as I mentioned before, not everyone gets diagnosed 22Q prenatally or in infancy. So, if there is any chance that child might have, you know, the primary care doctor thinks they might have genetic condition, especially if they have any kind of facial features, then definitely send those genetic testing blood work done.

So that way, you know, the child can get diagnosed on an early stage to find the appropriate resources.

[Dr Mike Patrick]
So, providers, you know, especially if you're out farther and it's a little more difficult for families to travel, being aware of those clinical guidelines is going to be important. And again, we'll have links to those in the show notes, but still having the expertise of a 22Q center, you know, even if it's something that the family can only travel, you know, once or twice a year is still, but the primary care physician can still contact someone. Is that a model that you sometimes see?

[Chaitali Amin, FNP]
Absolutely. Yes. There are primary care doctors that I work with very, very closely where they just contact us.

And even though the patients are not established with our clinic, obviously sometimes the hands are a little tied, but we do work with a doctor and just kind of provide them appropriate guidance on what tests that needs to be done and then the per guideline, of course. And then if they need any help finding even providers locally, if the patient cannot come to our 22Q center, our team is really good about knowing providers across the U.S. And then we do provide those recommendations as well.

[Dr Mike Patrick]
What advice do you have for parents as they really do their best to advocate for their children with 22Q? Because even having just one condition in the medical system today can become very frustrating, but you know, when you have a plastic surgeon that you're seeing and maybe a cardiologist and speech pathologist, and you know, it can get, it can get overwhelming, I would think. And yet parents still want to be the best advocate that they can be for their kids.

What advice do you have for those parents?

[Chaitali Amin, FNP]
Yeah, so the best advice I can give is to educate yourself and others around you that may include even providers if they are not familiar with 22Q and then never ignore any signs or any problems that your child may have. Advocate for your child and reach out to child's providers when he or she is facing difficulties. Stay in touch with school and teachers to make sure that they are not seeing any change in behavior or learning challenges, as it can change throughout their lifetime.

It's not like one time they get diagnosed and it stays like that. So, make sure just child is getting all the support at school, and they are seeing all the providers that they need to. And lastly, just understand that continuity of care and routine follow-ups are very, very important.

[Dr Mike Patrick]
All right. I imagine that another difficulty that arises is as kids become teenagers and then transition to adulthood, the 22Q follows them. What is the best way for families to navigate the transition from, you know, having a child with 22Q to a teenager and then into adulthood?

How do we move from pediatric care to adult care? Dr. Bayliss?

[Dr Adriane Baylis]
This is certainly the hot topic in a lot of chronic or congenital pediatric conditions right now. And 22Q is certainly one of the prime conditions where we're all continuing to strive to, I think, improve our models of care, really integrating a lifespan approach when possible. Because you're right, just because you grew up, the 22Q doesn't go away.

It is a lifelong condition. So right now, we suggest that families start the conversation early, typically around 12 or 13 years of age, ideally, with their 22Q team providers, as well as their primary care and with their school or other psychological providers too, because all of these aspects will require continued care or transition into young adulthood. A geneticist who's typically part of the child's 22Q team, or if you live somewhere where you're not maybe following up as often, can be one of the core transition providers of medical services for 22Q.

But again, educational transition is also important. Some children will transition at perhaps 18 years of age out of the school system. Others may go to school till they're 21 or 22, again, requiring extended school services, and then go into more of a vocational program or a support program for adults with developmental disabilities.

And so, all of these conversations are important to have several years ahead of time because transition takes time, and you need to gather information and resources to help plan what's going to be best for that child. As Chaitali mentioned, primary care providers, while we and the families provide information and education about 22Q to them, they're often one of our best advocates for transition as well because primary care also needs to continue into adulthood. And so, we need to be thinking early about who will help take care of this now young adult as they exit the pediatric health system for primary care as well.

[Dr Mike Patrick]
And then what are some of the unique needs that adults with 22Q have that maybe they didn't have when they were a child?

[Dr Adriane Baylis]
Well, they tend to need me less in terms of speech needs at that point, although communication skills can still be a little bit of a challenge in terms of the social interaction aspects of communication. But most of our patients will exit speech therapy services, and medical needs and psychological and psychiatric needs become the primary areas of need. In addition, most of our patients in young adulthood still require support navigating these complex medical or psychological challenges.

So, whether that's a parent that continues to be engaged in their care or even have guardianship to assist with their care, or a social worker or other advocate through, let's say, a job and family services program or other county program for adults with developmental disabilities. Another key issue is if that young adult is struggling with early mental health challenges, establishing with a psychiatrist during childhood into those late teen years so that you have an adequate and appropriate transition into an adult psychiatric provider is really, really key. It is harder when you experience perhaps a crisis after 18 years of age because some providers cannot see a child in the pediatric system after a certain age point.

So, if you've already got some continuity of care and the ability for them to identify an appropriate transition provider, that can make things smoother in a tumultuous time. And lastly, really looking to your health system or 22Q team for social work supports as well as other care coordination supports. I know here we're lucky to have a program called Partners for Kids or PFK, which can assist with coordination of care as well as transition and extensive social work resources here too that can help.

And they're very familiar with community resources for adults who may need supports with job, vocational training or ongoing educational needs. Yeah.

[Dr Mike Patrick]
And then how can families identify adult providers that would be a good fit? Maybe someone who has experience with 22Q, experience with the system and all the referrals that might be necessary still. How do you find the right person to take care of 22Q once you've hit adulthood?

[Dr Adriane Baylis]
Well, kind of a couple different buckets here. So, primary care is one area we know has to transition out of pediatrics. And so, some providers who are family medicine trained who can see children and adults may be a good fit for a primary care provider into adulthood.

And there are even primary care family med providers who are trained in things like congenital heart disease or working with adults with autism, which are two really common conditions we see in 22Q. And we have found some of those providers to be good fits for our adults. With 22Q, in addition, working with someone like Chaitali, a nurse practitioner or another care coordinator through a 22Q program can also assist with identifying which specialists the child has been seeing throughout their life can actually still follow that patient as an adult because some of them can and their certifications allow them to see and treat adults, whereas other specialties, they will not be able to do that and they will help you transition to an adult specialist in that discipline.

[Dr Mike Patrick]
Yeah. And I love that you mentioned like med-peds and family medicine because they're used to seeing both kids and adults. So, I imagine that would make the transition a lot easier if you started with one of those providers in the very beginning.

Dr. Kirshner, we've made a pretty good case that you really do need teen care because there's just so many facets of 22Q, so many organ systems involved, so many disruptions to kids' lives, such as speech and communication and the mental health stuff. Can you talk a little bit about teen care for 22Q in general and then specifically here at Nationwide Children's Hospital?

[Dr Richard Kirschner]
Yeah, absolutely. I mean, if we've learned anything today, it's that every child with 22Q is very unique and many are very, very complex. So, each child presents with their own unique combination of physical, emotional, and cognitive challenges and each within their own unique social environment.

So, these challenges can really only be fully met within the context of a team of expert professionals who understand 22Q, working closely with one another, with the child, and with the family. So, every structural, medical, and developmental abnormality of 22Q that we've talked about today may impact or be impacted by one or more of the others and, again, by each child's individual social and cultural context. So, this complex interaction really requires a skilled interdisciplinary understanding, communication, and collaboration in order to develop an effective strategy for care at every age and every stage of development.

And so, you know, as you said, it really does take a team to develop practical strategies for care within the context of the multi-system nature of the syndrome and of each child's unique challenges. So, our 22Q Center here at Nationwide Children's Hospital provides comprehensive diagnostic and management services to infants, children, and teens with 22Q. And as Dr. Bayliss discussed, we also assist in the transition to adult health care providers when the time is appropriate. We have an expert team of specialists, more than 20 subspecialties, that are here to provide family-centered medical, surgical, developmental, and psychosocial care that's really coordinated across all specialties and with each child's family and primary care providers. And in addition to our clinical services, we really offer lots of opportunities for family support, networking, and education as well. You know, and as Chaitaly mentioned, the best advocates for these kids are their parents, and parent education is really key.

So, our offerings include our annual 22Q at the Columbus Zoo event, our Connecting Families program. We offer online webinars and podcasts, such as the one we're doing today. In addition, our team has developed a very useful book for parents entitled Understanding 22Q, and that can be a valuable resource for parents as well.

And then finally, we have our bi-annual Healthy You at 22Q family dinner, family conference, and awareness walk.

[Dr Mike Patrick]
So, lots of resources for kids and for families impacted by 22Q, and we'll put links in the show notes to a lot of these. In addition to the clinical practice guidelines that we had mentioned, we'll have a link to the 22Q Center at Nationwide Children's Hospital. And at that page, there is also a referral site, both for providers and then also for parents.

So, if you'd like to get in touch with the 22Q Center, it's really easy to do. And again, we'll have a link in the show notes over at PediaCast.org. We also, there's an organization called the 22Q Family Foundation, and they have a lot of great and useful information and resources, support programs and such at their site as well.

And in the, you know, thinking about the family conference, Dr. Kirshner, I would imagine that support among families who all share this journey, even though each kid is unique, there's a lot of similar challenges and barriers that families face. Have you found that the support network is really helpful for these families?

[Dr Richard Kirschner]
Yeah, absolutely. It's one of the great things to see, particularly at our annual event where we bring together families from all across the country, is the ability of the families to really share their experiences and support one another. And at the same time, for the kids to meet other kids with the condition, at our family conference, we actually offer two tracks.

One is an educational track for parents, but at the same time, we have breakout sessions for school-age children and for teens where they can interact with one another in various fun activities. And it's just another level of support and understanding that they can participate in. Great.

[Dr Mike Patrick]
And again, we'll have links to all those things I had mentioned over in the show notes at pdacast.org. This is episode 568, so you'll be able to find them in the show notes for this episode. So once again, Dr. Richard Kirshner, Dr. Adrian Baylis, and Chaitali Amin, all from Nationwide Children's Hospital. Thank you so much for stopping by today and talking about 22Q. Thanks for having us.

[Chaitali Amin, FNP]
Thanks for talking with us today. Thank you for having us today.

[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 Dr. Richard Kirshner, Chief of Plastic and Reconstructive Surgery, also Director of our Cleft Lip and Palate Center and Co-Director of the 22Q Center, all at Nationwide Children's Hospital. Also Dr. Adrian Baylis, Director of our Velopharyngeal Dysfunction Program and Co-Director of our 22Q Center at Nationwide Children's, and Chaitali Amin, Certified Nurse Practitioner with Plastic and Reconstructive Surgery and the 22Q Team at Nationwide Children's. Don't forget you can find our podcast wherever podcasts are found. Apple and Google podcasts, for example, iHeartRadio, Spotify, SoundCloud, Amazon Music.

We're also on YouTube and most other podcast apps for iOS and Android. Our landing site is pdacast.org. You'll find our entire archive of past programs there, along with show notes for each of the episodes, our terms of use agreement, and the handy contact page if you would like to suggest a future topic for the program.

Reviews are helpful wherever you get your podcasts. We always appreciate when you share your thoughts about the show, and we love connecting with you on social media. You'll find us on Facebook, Instagram, Threads, LinkedIn, and Twitter.

Simply search for PediaCast. So, you've listened to our podcast for parents. If you are a pediatric provider, we also have a CME.

That stands for continuing medical education. We do turn the science up a couple notches, and we offer free continuing medical education credit for those who listen, and we have joint accreditation. So, we are accredited for Category 1 CME or CE for doctors, nurse practitioners, physician assistants, nurses, pharmacists, psychologists, social workers, and dentists.

So, we likely offer the exact credits you need if you are any of those medical professionals, as long as the topic of the podcast matches your scope of practice. Shows and details are available at the landing site for that program, pdacastcme.org. You can also listen wherever podcasts are found.

Simply search for PediaCast CME. So, as you can probably tell, I am still suffering from a little bit of a scratchy throat and a cough, which is gradually getting better, but not gone completely. Hopefully next week will be more improved.

Thanks again for stopping by, and until next time, this is Dr. Mike saying stay safe, stay healthy, and stay involved with your kids. So long, everybody.
 

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