Supporting Kids and Adults with Down Syndrome – PediaCast 453

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  • Dr Murugu Manickam and Kari Jones visits the studio as we consider Down Syndrome. This condition impacts many families and is the leading genetic cause of learning disabilities and intellectual impairment. We explore cause, features, diagnosis, support and complications. We also discuss the unique needs, challenges and rewards associated with Down Syndrome. We hope you can join us!

Topic

  • Down Syndrome
  • Trisomy 21

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Announcer 1: This is PediaCast.

[Music]

Announcer 2: 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 are in Columbus, Ohio. 

It's Episode 453 for February 18th, 2020. We're calling this one "Supporting Kids and Adults with Down syndrome". I want to welcome all of you to the program. 

So about a month from now, on Saturday, March 21st 2020, we will be observing World Down Syndrome Day. And this is when the world come together across all continents of the globe to raise awareness, stand in support, and celebrate the lives of individuals with and families impacted by Down syndrome.

0:01:21

So in preparation for that day, we wanted to release an episode to provide awareness and education for you, the audience, and to provide some content and practical information that you can share with your online community as that special day approaches and we all try to spread awareness and provide support for those with Down syndrome. 

It's also known as trisomy 21 because individuals with Down syndrome have an extra copy of chromosome 21. So they have three copies instead of two. 

Down syndrome is the most common genetic disorder that involves chromosomes as opposed to individual genes. And it's the most common cause of genetic learning disabilities and intellectual impairment with the worldwide incidence of about 1 in every 1,000 births. A bit more common in the United States where it's seen in about 1 in 700 births. 

0:02:14

And as we move through the program today, we'll consider why it's more common in the United States. We'll ponder that question and many more with our two guests. Dr. Murugu Manickam is here. He's a clinical geneticist with the Down Syndrome Clinic at Nationwide Children's Hospital. He's going to help us understand what exactly causes Down syndrome, the typical features and complication of the condition, how it's diagnosed and supported, the lifelong health consequences, that sort of thing. 

And then, Kari Jones will also be here. She is President and CEO of the Down Syndrome Association of Central Ohio. She's going to help shed light on the family experience, those impacted by Down syndrome. What is life like in their shoes? What needs do they have? What unique challenges do they face? What rewards do they reap? And how can those of us without a child with Down syndrome in the home, how can we best reach out and support those who do? 

0:03:10

So that discussion will be coming your way shortly. First though, I have an announcement that I think many of you will appreciate. A common question I've been getting recently is why don't you have more episodes in the feed? So we can listen in podcast apps instead of the websites, where the older episodes are located, going back to episode number one in 2006. 

We really only have the most recent episodes in the feed, everything else is at the website. And you know, your point is well taken, the oldest installment in the feed has been Episode 317 for a pretty long time now. That's when we chatted with a trio of nurse practitioners back in May 2015.

So that means we have 316 episodes that are not in the feed. So I took a look and there's really some good content in the next ten, the newest ten that are not in the feed, so Episode 307 to 316.

0:04:09

In fact, simply by adding ten more episodes to the feed, we are able to serve up lots of new old content. And it's not really that old and it's mostly up to date. Just keep in mind that with the older episodes, there is more of a chance that our understanding of certain diseases may change a little bit.

But by and large, change tends to come slowly to the world of pediatrics. Unless we're talking about concussions where recommendations seem to change every couple of years, and of course, cutting edge genetic and immune therapies that were simply not available a few short years ago. 

But 95% of what we talked about in pediatrics is the same yesterday today and tomorrow. So, what I learned in medical school and residency 25 years ago is still very much up to date in many ways in the same stuff that we're teaching medical students and residents. 

0:05:03

Yeah, there's some change. Research changes things as we learn more and the evidence demonstrates how we should be doing things. And so, there are some changes, but when we're talking a few years, not that many.

The ten episodes we're adding will bring you content on back pain and student athletes, teen suicide, febrile seizures, sex education -- that doesn't really change -- nursemaid elbow, juvenile arthritis, music therapy, and adult congenital heart disease. So babies born with heart defect, what can they expect as adults?

So those topics, all newly added to the feed and available in your favorite podcasts listening platform. Speaking of those platforms, we try to be available wherever podcasts are located. Someone asked me recently, is PediaCast on Pandora? And I had to step back and think I don't know, I hadn't really considered Pandora. So I looked and no, we're not on Pandora. 

So I added both PediaCast and PediaCast CME, both of those podcasts, I added to Pandora. There's a little bit of a review process, so hopefully those will be there soon.

0:06:13

But we are on Apple Podcasts, Google Podcast, iHeart Radio, Spotify, SoundCloud, most mobile podcast apps for iOS and Android. If there is a place you like to listen to podcasts and you can't find us, please reach out like our Pandora listener did and let me know, and we'll try to get the show added to that lineup as well.

Also, reviews are helpful wherever you listen to PediaCast. We always appreciate it when you take a moment to share your thoughts about the program. 

And we love connecting with you on social media. You'll find us on Facebook, Twitter, LinkedIn and Instagram, simply search for PediaCast.

I  want to remind you that the information presented in every episode of the program 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.

0:07:06

Also, your use of this audio program is subject to the PediaCast Terms of Use Agreement which you can find at pediacast.org.

All right, so let's take a quick break. We'll get our guests settled into the studio and then we will be back to talk about Down syndrome. That's coming up right after this.

[Music]

Dr. Mike Patrick: Dr. Murugu Manickam is a clinical geneticist at Nationwide Children's Hospital and an associate professor of Pediatrics and Internal Medicine at the Ohio State University College of Medicine. 

0:08:07 

You'll recall he joined us during Episode 44 of our Continuing Medical Education podcast, PediaCast CME, as we discussed neurofibromatosis. Another of his clinical interests is caring for patients and families with Down syndrome. 

That's what we're discussing today, Down syndrome, so let's give a warm returning PediaCast welcome to Dr. Murugu Manickam. Thanks so much for visiting with us again today. 

Dr. Murugu Manickam: Thanks for having me. 

Dr. Mike Patrick: Really appreciate you taking time to stop by. We're also happy to have Kari Jones in the studio. Kari serves as president and CEO of the Down Syndrome Association of Central Ohio, which supports families, promotes community involvement and encourages a lifetime of opportunities for people with Down syndrome. 

We really appreciate you visiting with us as well.

Kari Jones: Thanks for inviting me.

Dr. Mike Patrick: Dr. Manickam, let's start with you. Down syndrome I think is one of those things, there's really a lot of familiarity with that term. People have some knowledge about it. Just remind us, what exactly is Down syndrome? 

0:09:04

Dr. Murugu Manickam: So Down syndrome is a genetic condition that's due to three copies of 21st chromosome. We know about this disorder for a long time going back well over 100 years when it was first described by Dr. Downs. 

Mostly, people have a conception of it being associated with intellectual disability and certain facial features and things like that. But really, that has significantly changed over the last couple of years. 

Dr. Mike Patrick: To my knowledge and as we progress through this conversation, please, at any point, correct me. I'm not an expert on this. And if there's anything that I say out of step, please let me know. 

But it appears that there is some variation with degree of severity of some of the intellectual disability and learning disabilities that may be associated with Down syndrome. What's behind the variation and how severe it can present? 

Dr. Murugu Manickam: So there are a couple of different things that I actually can involve with this. So one is that not every patients has exactly the same chromosome findings.

0:10:08

So there is something called Mosaic Down syndrome where only some of your cells actually have that extra copy of the 21st chromosome and other ones don't. And if that occurs and it occurs for kind of random reasons, you would see maybe less of an effect. We can't say that for sure but we tend to see a little more of subtler facial features and a little bit of higher functioning. 

But the other part of this, which I think is really becoming more evident now, is that generationally, there are differences, that you saw kids who were born in 1980s with Down syndrome, that many of them would not have gotten cardiac surgery because of high risk procedure and somebody we weren't sure what the quality of life was going to be. 

And then, you have the next generation who would maybe have gotten cardiac surgery, who schools weren't sure what to do with them. And now, we come to our current time where kids we know really benefit from the early therapies and a lot of the schools are better at dealing with what their needs are. You see them in the current generation and, hopefully, the future generation are really exceeding any expectations we might have had for them.

0:11:18

Dr. Mike Patrick: So genetics play a role, but really the environment in which you grow up and learn and engage with others really also plays a role in where we end up with this.

Dr. Murugu Manickam: Exactly, and the medical care as well is part of that. 

Kari Jones: Well, I will just add that just like you would see with any condition, there's a spectrum. I think a lot of times people attribute that to the autism community and they say, "Oh, this is the spectrum." But, really, the spectrum can be in any number of things, whether that's a visible limitation or having Down syndrome. Any condition has a range, and so I think some of it can just be attributed to that as well. 

Dr. Mike Patrick: How common is Down syndrome?

Kari Jones: Down syndrome occurs in 1 out 792 individuals. We say around 1 in 800. And it's the most common genetic condition in the United States...

Dr. Murugu Manickam: That cause an intellectual disabilities.

Kari Jones: That causes intellectual disabilities. 

0:12:15

Dr. Mike Patrick: And the most common genetic chromosome disorder too, correct?

Dr. Murugu Manickam: Correct, yes. 

Dr. Mike Patrick: So not individual genes affected, but when the whole chromosome is affected, it's the most common of those. 

I did see that the United States, you talked about 1 in 700 in some births or so. But worldwide, it's like more 1 in 1,000 births. So a little bit more common in the United States? 

Dr. Murugu Manickam: I think there's different things again along with that. One of the parts is that a lot of children who actually have Down syndrome are going to be miscarriages in utero. And some of them would be preemie and things like that. And so just the fact that in the US, we get better prenatal care and post natal care and NICUs and things like that, a lot more will survive beyond that to begin with. 

But I will say the other part of that is how many don't get diagnosed. From other countries, the numbers are a little bit variable as to what you would actually see. In some European countries, we see pretty consistent numbers. They have centralized health care, it's actually a lot easier to get that kind of demographic data. 

0:13:18

Dr. Mike Patrick: What about advancing maternal age? That is an association, correct?

Dr. Murugu Manickam:  It is, but we still have to keep in mind that most children with Down syndrome are born of moms who's under the age of 35.

Dr. Mike Patrick: Just because more kids are born. 

Kari Jones: Right. And Down syndrome really equally occurs across multiple demographics, whether that's ethnic, racial, religious, socioeconomic, it's equal. So unlike some other conditions, it really doesn't discriminate in any way. 

Dr. Mike Patrick: Yeah. And that's why we're having a World Down Syndrome Day, right? Because we really do see it all over the place.

And I think that is an important point, so most moms who have a child with Down syndrome are going to be younger than 35 years of age because they're the ones giving birth. But we do see there's an increased risk of it happening when you're 35 and older and you become pregnant as a mother. 

0:14:12

What about advancing dad age? So paternal age, does it have anything to do with Down syndrome?

Dr. Murugu Manickam: It has nothing to do with Down syndrome. There's separate risk that go along with a dad who's older, but for a different genetic conditions. 

Dr. Mike Patrick: But Down syndrome is not one of them. 

Dr. Murugu Manickam: Down syndrome is not one of them. 

Dr. Mike Patrick: Okay. So what causes Down syndrome? You talked about there being three copies of chromosome 21, which is why it's also called trisomy 21. Tri for three. How does that happen? Why do some kids get three copies of that chromosome?

Dr. Murugu Manickam: The reason it is really one of those conditions that goes across all ethnic groups and really something we commonly see is because it is a random event. When your cells are dividing, they need to come pull apart those different copies in order to go into a sperm or an egg. 

And it really is just something that occurs as sometimes the 21st chromosome, which is actually the smallest of all of our chromosomes, just under 1% over DNA. Just it's a little too sticky. 

0:15:14

But one of the other things that we don't always talk about is the fact that it really can occur at any chromosomes. It's just because the 21st chromosome is so small, it has less of effect than if you have, for example, the first chromosomes. If there are three copies of that, most are going to be miscarriages very early on. 

Dr. Mike Patrick: Yes, the fact that it doesn't have as big of an impact as some of the other chromosomes may have, if there had been three copies of those. And then, those babies don't really make it to birth because the genetic defects would just be too great.

Dr. Murugu Manickam:  Exactly yeah. 

Dr. Mike Patrick: As we think about and describe more, so we're going to get more in detail about Down , but I thought it was important right here sort of on the onset to talk just a little bit about terminology. 

0:16:00

So Kari, I know we are really attempting in all of medicine really to put patients first rather than their disease process first, which I think is a very important thing. So we want to say that we're talking about kids with Down syndrome, not Down syndrome kids. It's important really to identify the individual first. Would you agree with that?

Kari Jones: Yeah, I think Down syndrome patient is something that our parents hear frequently. I think there can be a lot of positive energy around Down syndrome which is fantastic. And that's not lost on parents but I think that they really would appreciate someone saying it correctly. So saying even if it's patient has Downs, that's kind of we're moving away from that and just saying that's Down syndrome when you're talking about it and not kind of abbreviating it that way. 

But anytime you can put the patient individual first, that's going to be critical. 

Dr. Mike Patrick: And I came across that it's really best to say they're with Down syndrome versus like afflicted with Down syndrome...

Kari Jones: Oh, yeah.

Dr. Mike Patrick: Or suffering from Down syndrome or something like that. 

0:17:13

Kari Jones: Yeah, they have Down syndrome. It's just a part of who they are. It's like I have blonde hair. You wouldn't say the blonde lady, usually. I mean, I guess you could but...

Dr. Mike Patrick: And those of us who aren't really impacted by Down syndrome, you might think, "Oh, what's the big deal, it's just a word." But when it's really in your family and in your life day in and day out, these things become very important, right? We want to be sensitive to that. 

Kari Jones: Yeah, we have a private moms Facebook group and a private dads Facebook group and it's something that the community doesn't have access to unless you are in our community and have a loved one with Down syndrome. But they'll put in there the moments that that happens to them when they're in the community. And it's particularly challenging and upsetting when it is in a medical setting because I think they feel that those types of professional should know best how to talk about Down syndrome. And if they don't do it, then how can they expect everybody else, too?

0:18:17

So I think it hits them pretty hard if a medical professional doesn't use the right terminology for sure, whether that's a social worker, a nurse, or a doctor, doesn't matter. If they're coming to Nationwide Children's, that's what they're hoping for. 

Dr. Mike Patrick: That definitely makes sense. Dr. Manickam, let's talk through some of the physical signs of Down syndrome. And I do want to mention that you talked about the Mosaic form of Down syndrome where some of the cells have three copies of the 21st chromosome and others just have the two copies. Is that just a function of when that occurred? So like earlier on in cell division, it's going to be more of the cells, and if it happens a little bit later on down the road, then it's only in that line of cells?

Dr. Murugu Manickam: That's exactly right. So most cases are going to be ones that occur when the sperm or egg were formed and in that case, it would be in kind of all the cells.

0:19:15

Occasionally, what can happen is after the baby's conceived with the normal 46 whatever, then sometimes, one cell line make that extra 21st chromosome. There's absolutely another cell line that would actually be fortified with one 21 but that's actually that's a line that actually often passes out. It doesn't really progress. And so, you have a mix of cortical normal cell line and then the one with the 21st chromosome extra.

Dr. Mike Patrick: And is one of those more common than another? Is it more common to have the Mosaic form or more common to have it in all of the chromosomes?

Dr. Murugu Manickam: Yeah, it's much more common.

Dr. Mike Patrick: To have it all.

Dr. Murugu Manickam: To have it all, correct. It's only about 1 to 2% that actually will be mosaic. But even then, as I mentioned before, you can't necessarily know what that Mosaic is in the brain which is what we care about. Because we're often checking the blood when we're doing the genetic testing. 

0:20:13

So the blood sample may be different from what's going on the brain or in the liver or other organs and things like that. So it's just a reflection of one cell line at that point. 

Dr. Mike Patrick: And if it's in the brain, then it's more likely to affect intellect and memory and these sorts of things. 

Dr. Murugu Manickam: Exactly, yeah.

Dr. Mike Patrick: So let's talk through, what are some of the physical characteristic then that we would typically associate with Down syndrome?

Dr. Murugu Manickam: Yeah, you'll see some of these when babies are first born, what I would often describe as they have a little bit of an up slant to their eyes. That they have a very central facial features, so they have kind of this round face and  their mouth and nose and eyes were all kind of very much set in the middle of their face. And a little bit of gestalt and most physicians would have at least seen some pictures and kind of recognize some of the early signs. 

0:21:08

The other things that you can kind of sometimes see from the outside would be things like single palmar crease. So that is one little crease across their hand. And that's really due to two different things. One is that their hands are a little bit smaller and the other is that they don't tend to move a lot. And so they have hypotonia, which is one of the big issues with them is as they're kind of are getting older and so forth. 

They can sometimes be a little bit smaller even when they're infants. And we actually have a special growth charts just for that reason, that they might not gain weight as well as other kids but they're going to gain weight and those kinds of things over time. 

Dr. Mike Patrick: And that could make providers and parents concerned if they're plotted on the growth chart that goes with the whole population.

Dr. Murugu Manickam: Correct.

Dr. Mike Patrick: So it really is important to put them on a growth that compares them to other kids with Down syndrome.

Dr. Murugu Manickam: Yes.

Dr. Mike Patrick: Great. And then the neck, especially for those who participate in sports and there's some neck issues that these kids can have.

Dr. Murugu Manickam:  Yeah, they have something called the atlantoaxial instability. And so, that's where the first vertebrae does not quite line up well with the skull. It's one of those things that it is something that we know that they're at risk for but it's really hard to screen for. 

0:22:19

For example, the Special Olympics used to require that you get an X-ray before you participate in Special Olympics. But what we've learned over the years is that the X-ray is not sufficient as a screen, that you could still atlantoaxial instability and it may not show up on X-ray.

So really, what Special Olympics has done and what we try to do also when we talk to families is to say just try to avoid any kind of activity that may put their neck or head at risk. So things like going head first down the slide or doing a trampoline or things like that where a neck injury is just more common in general. 

Yeah, absolutely. And really pay attention to any symptoms that they may be having or if they're holding their neck in a funny way after they've been jumping on the trampoline, for instance. Really, being aware and paying attention to any issues surrounding the neck.

0:23:09

And we did talk about this in a lot more detail back in Episode 434 with our sports medicine folks. We did an episode called Athletes with Disabilities and Adaptive sports Medicine. So if folks are interested in learning more about that, we'll put a link to it in the show notes for this episode, 453, over at pediacast.org.

You also mentioned heart defects. Tell us a little bit more about that with Down syndrome. 

Dr. Murugu Manickam: So about 50% of kids who have Down syndrome will have heart defect. And again, this is another one of those that you see a large variety of things that could potentially be going on. So some can be really subtle, just a small subtle defect, either the atrial or between the ventricles. 

Other kids have really complex cardiac abnormalities that they're born with. The most common one is something called AVSD. So, atrioventricular septal defect. And this is one that will cause kids to have issues as they're kind of growing up, that they'll always look short of breath and things like that, but one now that is actually pretty easily repairable by the cardiothoracic surgeons.

0:24:11

Dr. Mike Patrick: Kind of a hole right in the middle of the hear, right? 

Dr. Murugu Manickam: Exactly.

Dr. Mike Patrick: In the pumping chamber, lots of mixture of blood that's been oxygenated and not oxygenated and that can cause some significant problems.

Dr. Murugu Manickam: Exactly. 

Dr. Mike Patrick: And then, because the brain is affected and our sense of vision and hearing is connected to the brain and kind of grows out from the brain, kids with Down syndrome can have vision and hearing problems too, right?

Dr. Murugu Manickam: Absolutely. So one most common things is actually really more the muscle that they get strabismus, so their eye may not quite work together. And for most kids, what you try to do is give them glasses to help them try to stabilize that eye a little bit. 

But what we've learned over the years again is that children with Down syndrome probably need the surgery to kind of tighten that muscle up to strengthen it. 

Dr. Mike Patrick: And hearing.

Dr. Murugu Manickam: Hearing is also, yeah, absolutely a big issue. The most common issue is actually that they have conductive issues. So they can't hear because the ear canals tend to be a bit narrow and they are more prone to actually get fluid behind in the middle ear area. And so, a lot of them will end up needing PE tubes at a fairly young age. 

0:25:17

Dr. Mike Patrick: And that can be a challenge for pediatricians who are looking in ears, especially as kids gets colds and then they're kind of fussy afterwards, and maybe acting like their ear hurts. It can be difficult to visualize the tympanic membrane because the canal is so narrow and small.

Dr. Murugu Manickam: Yeah, exactly. And so, sometimes, we also talk about even the canal being, the angle being a little bit different from most kids. And so that also contributes to making it harder to actually see the tympanic membrane to see if there's an effusion that actually looks like it has infection or not. 

Dr. Mike Patrick: And another one of the issues that I came across, I think folks may not think about as much, is just that severe infections are a little more common with Down syndrome. In fact, some of them, pneumonia is like 62-fold higher rate is reported in some places from pneumonia. What causes that?

Dr. Murugu Manickam: So I think it's a variety of issues. So one is some anatomical issues that it's just a little more common for them to get viral infections, sinusitis and things like that. A lot of them also have cardiac defects which inherently also give you a higher risk for pneumonia, for infectious issues. 

0:26:20

But we don't tend to see really big long-term infectious issues. It tends to be more a little bit in the short term, but you do see those kinds of illness.

Dr. Mike Patrick: And to some degree, kids may be having an inability to communicate how they're feeling could also cause maybe diseases or infections especially to maybe progress beyond the point where it might be picked up a little bit quicker in a kid who can tell you, hey, this hurts or that hurts. They can make it more challenging to identify and diagnose kids with infections.

Dr. Murugu Manickam: Absolutely, for both pediatricians and for parents. That is a common concern that they don't manifest disease the same way that most other kids or you would think they would. 

And we often see actually that more commonly, that lot of things that show up is behavioral change. That they may be completely fine and the next day, they don't want to go to school but they don't tell you why they don't want to go to school. It's just because they're short of breath and they don't know how to communicate that to us.

0:27:15

Dr. Mike Patrick: Yeah, absolutely. Some other physical issues that may go along with Down syndrome that I think it's important for parents to know about and for pediatric providers to kind of watch for, but blood disorders like anemia and leukemia can be more common in Down syndrome.

Dr. Murugu Manickam: Yeah. The absolute numbers are pretty low for at least leukemia risk. We say about 1% lifetime risk that's actually develop a leukemia lymphoma. It's a little bit interesting from a treatment perspective that some forms of leukemia that are really easy to resolve in the general population are harder to treat in the Down syndrome population or vice-versa as well. 

Dr. Mike Patrick: So when we say more common, we still mean relative to the general population but still a small percentage of kids with Down syndrome who would develop leukemia. 

Hypothyroidism and obesities are also issues that we can see. 

Dr. Murugu Manickam: Yeah, actually, I was going back to what you mentioned too was the anemia.

Dr. Mike Patrick: Oh, yeah, absolutely.

Dr. Murugu Manickam: And anemia is one that actually that we've only started to recently recognized as a concern. It's not even actually in the AP Guidelines at the moment but will be in the next version. 

0:28:19

But that is actually a really big concern in the population base. It's just going to contribute to that fatigue symptoms and other things that sometimes you think are part of Down syndrome, but really, it's because they can't get that energy level that they need.

Dr. Mike Patrick: And why do we think that happens?

Dr. Murugu Manickam: I don't know if we have a clear idea at this moment as to why it is. But you had talked also about hyperthyroidism and one of the things we're starting to see also commonly is that a lot of these things are autoimmune. They have a lot of increased risk for autoimmune conditions including hyperthyroidism and potentially maybe this is the reason that they get anemic as well. 

Dr. Mike Patrick: Also, I read disrupted sleep patterns and sleep apnea, gum diseases, dental problems may be more common. And even celiac disease maybe a little bit. And that goes back to maybe the autoimmune component to it. 

Dr. Murugu Manickam: Exactly. 

0:29:10

Dr. Mike Patrick: So really, a lot issues that can crop up that we think of as sort of separate medical conditions that you really do have to be vigilant on. And so, it's really important for kids with Down syndrome and their families to be connected with a pediatric provider who really is in tune with what kids with Down syndrome are more at risk for and to be on the lookout for those things.

Dr. Murugu Manickam: Absolutely. And I think you kind of brought it again back to hyperthyroidism a little bit. You know, we talk about 1% for leukemia. It's 1% for hyperthyroidism but it's 1% every year. So by the time you're 20 years old with Down syndrome, you have about 20% risk for actually having hyperthyroidism. 

So it's not an uncommon disorder in the population. So that's one of the reasons that there is a recommended annual screen. But the other part is that it's just a screen, it's just a blood test and if you catch them a little bit off, it may be abnormal but they really are still asymptomatic. And a lot of the symptoms overlap, so fatigue symptoms, gaining weight, lethargy, dry skin, hair, constipation, those kinds of things. 

0:30:13

Dr. Mike Patrick: So this is an important point, that if you screen the thyroid function of a child with Down syndrome, let's say at the kindergarten visit, perhaps it needs to be screened for again in subsequent years. 

Dr. Murugu Manickam: Absolutely. Every year, it is actually recommended through the AAP that you actually get an annual screen but even when it's time in between, if you think they're symptomatic.

And one of the things we've commonly seen also is that they present atypically. They present with behavior change. Where a child before might have had incontinence, they suddenly have stool incontinence and it's because they actually have constipation. And again, they're not able to tell you, "That's why I'm unable to control my bowel movements, but that's what's going on." 

Dr. Mike Patrick: Which then could just be constipation or it could be related to hyperthyroidism, too.

Dr. Murugu Manickam: Correct, yeah. 

Dr. Mike Patrick: Good to know and to think about. And then, what is the impact then on intellectual and mental health? We alluded to the fact that there are some intellectual disabilities involved. Are there specific things that we tend to see and maybe there are some myths out there that we don't see?

0:31:16 

Dr. Murugu Manickam: Yeah. One thing I often tell parents and it is a little bit to give them hope but also it's real, that they're going to do the same things all other kids do. They'll just do them a little bit later. 

So they may not walk at one, they may not talk at one, but they'll do it in general by the time they're two. And one of the keys is getting them early therapies. That occupational therapy, physical therapy, and speech therapy are vitally important to help them to get to that next level faster because then they can move on to the next thing. 

What we tend to see is something that probably is somewhere in the mild intellectual disability technically by IQ testing. But each of the child's going to be their own and depending on what services and what other complications they have going on. 

So it's really, and this is where the environment impact comes into play because it really is important to get these kids like an early intervention and really educational environment early and helping them develop these skills. 

Dr. Murugu Manickam: Absolutely, yeah. And I think that's one of the things that a lot of parents, especially if you talk the older generations, they had to fight tooth and nail to get any kind of service for their child.

0:32:22

And now, we hope that school systems are a little more accommodating, but we still hear stories of the family that needs to fight and that's what groups like the Down Syndrome Association are there for, but also the Down Syndrome Clinic through Nationwide Children's are there to help out when you don't feel like the services are quite getting what you need. 

Dr. Mike Patrick: In terms of the educational experience, are these kids in typical classrooms or are they more in classrooms with other kids with Down syndrome? Or what's the best educational environment for them?

Kari Jones: I think that inclusion is best. There's research that shows that it's not only better for the individual with Down syndrome but also their peers to have as much inclusion as possible. So there can be different variables that have to be considered and evaluated as a child ages through the school system. 

0:33:16

Particularly, I think if there are behavioral needs that have to be addressed in that in order to keep everybody safe, there are times when a child may need to be taken out of the room for a period of time to reset. But generally speaking, inclusion is the best model that we know of from research.

Dr. Mike Patrick: I would think from an earlier age too and as other classmates to develop empathy for folks with differences that kind of the younger age that you started to begin to encourage that, it would seem would make it more seamless and inviting as kids get older. 

Kari Jones: Yeah, I think it's for grownups, too. Everybody can be a part of adjusting that frame of mind, I think. And yeah, I have a 34-year-old brother with Down syndrome who has always been included and my parents did have to fight tooth and nail to make that happen for him. But I think it's changed his overall expectations for his life. I know it has changed my parents' expectations for where he'd be in life. 

0:34:22

And now, he lives on his own in a house by himself and takes care of things and he's probably better at keeping his house than I am. 

And I think all of that is because we pushed for him and then he knew that there were not going to be limit set. So I think it's really important that we're talking to with parents about stepping a little outside of their comfort zone to push their children because it's very easy -- I'm a parent myself now -- to want to do... You know, we're protectors. And we want to protect them, we want to protect them from people being mean to them and we want to protect them from falling and hurting themselves and all these different ways you can justify not including or limiting the amount of people that's around them. 

Or I could easily I want my daughter to be in a classroom with other children with IEP so that she's just safer and I know she's getting everything she needs. But I also know from a social perspective, there are things we have to do to push.

0:35:18

Dr. Mike Patrick: And as we consider all the complexity of relationships with family, with peers, and all of these, kids with Down syndrome are also going to be prone to other mental health issues that all other kids have. So we do see anxiety and depression and ADHD and have to be on the lookout for all of those things too, right?

Dr. Murugu Manickam:  Absolutely. It's one of those things it's again easy to overlook some of them and say, oh, it's just because of the Down syndrome. But it is the same as anyone else would have. One of my favorite psychologists has worked with a lot of adults with Down syndrome. 

He has an analogy that I love of a NASCAR track where you can be stuck kind in a good groove and you're going around the same track over and over again. But the longer you're in it, the deeper the groove becomes and then the harder it is to change behavior because it's become simple. 

0:36:09

But OCD behaviors are because that makes life simple. If you know where your shoes and your toys are all the time, you don't have to worry about it or think about it because it's always right there. But then, it becomes a little bit of an issue when that OCD behavior becomes more important than everything else. That has always been the thing that you're thinking about. 

One part of this also that we do see a little bit more autism in the Down syndrome community, about 10%, which is higher than the general population. But I actually also found when you talk to families, you kind of see this as well, that they actually have a lot of emotional intelligence. They lead people really well and that's both a good thing and a bad thing. 

On the good side, it's unusual but you actually see that they have more intact families than, for example kids, who have autism. There are higher divorce rates in families of autism than with Down syndrome, and Down syndrome compared to other intellectual disabilities. 

0:37:05

And I actually think a little part of that is the emotional intelligence that they can read the room and when there's some tension in the room, they actually are naturally going to try to reduce that tension. And then they'll give somebody a hug which just kind of relaxes you and kind of helps out with all the other things going on. 

Dr. Mike Patrick: So that can definitely be a positive asset and yet, we also have to recognize that when there is tension, that they're probably going to internalize that more and have more...

Dr. Murugu Manickam: More anxiety. And when someone's uncomfortable around them, they actually will internalize that. So if you are not hugging them, or suddenly you're like a little afraid of them, they're wondering what did I do to cause this?" even though they're not saying this out loud. Then they are getting depression, they're getting anxiety because "What did I do wrong?" "You did nothing wrong," it's someone's reaction, and that's unfortunate. But it's also one of those things of you can work through it a little bit, but it's talking to them and making sure they're aware of that.

0:38:04

Kari Jones: I was just going to go back to the piece really quickly that you discussed with all of the different co-occurring possible health conditions and just kind of note that for listeners or anyone who's a new parent, that it's a menu of things that can be co-occurring. It's not typical for all of those things to be something that a parent has to face. 

Dr. Mike Patrick: Or any of them.

Kari Jones: Right. Yeah, I have a brother with Down syndrome and until I actually started working for the Down Syndrome Association of Central Ohio, I did not know that the prevalence of co-occurring heart defects. My brother never had any heart defects. He had glasses, which so do I. He had a bunch of sets of tubes which I didn't but...

Dr. Mike Patrick: The ear tubes. 

Kari Jones: Yeah, ear tubes. But other than that, there weren't a lot of other co-occurring health conditions, so I think it really varies from person to person. Certainly, there can be individuals that have they're ordering much more off that menu than they wanted to, but for the most part, I just want to note that. 

0:39:09

Because I think it's a really tricky line for medical professionals when they're talking with a new family and bringing up all of the possibilities for families that can feel very overwhelming and they make them feel like this is a very bad situation that I'm now into and now have to manage. And so it's a tricky line of informing them but also not scaring the crap out of them when sharing all these. I think it's important because when we get that feedback, when the parents come to us, they're like they just went in to every possible thing that could go wrong.

And when I think about that from a parent who has a typical child born, there are all kinds of things that could go wrong with typical children, too. It's not probably appropriate to address in the same way like you would when you're talking about Down syndrome. But it's really tricky and I know it's a really tough place for medical professionals to be in, on how to inform but not scare.

0:40:06

Dr. Mike Patrick: I mean, you really want to be put yourself in the parents' shoes and say if this was coming at me, what would I be comfortable with? And sometimes, you just need a little trickle and not the entire firehose coming at you all at once.

And Dr. Manickam, what then are the best practices for supporting these patients and families in the medical system from the time that they're diagnosed? How do you balance what you're going to talk with families about what you'll be looking for? 

Dr. Murugu Manickam: I think the time of diagnosis was actually one of the hardest ones. And I think one that a lot of families remember very, very well. And it's because you're giving them this diagnosis, and for some of them it's hitting them out of left field. It's kind of out of left field and say, "I don't how to react." And it's like when you hear any kind of news for the first time, that may be all your hear. Anything that we might tell them after that, they're not going to hear and that's fine. 

And there's going to be all kind of range of reactions because that's humans. Some will be angry and some will be really sad. And you just have to read the family and see what they need at the moment and really react to what their needs are. 

0:41:12

And you also will have discrepancy. One of the important things we always try to tell families now is tell them together because you don't want to tell a mom and have her expect to tell the father. Try to tell both parents together in a room. And I usually like to have some kind of relationship with the families, so it's not just come in with the diagnosis. It's look at the baby, talk to them a little bit, get an idea where they're coming from and then start talking more about the diagnosis if that was the case is. 

Dr. Mike Patrick: Be ready to answer questions, but then be ready to answer lots more questions later on.

Dr. Murugu Manickam: Exactly. 

Kari Jones: I think the biggest piece too is I know that medical professionals are moving from one room to the next. They have a lot of different things that they have to navigate outside of that one hospital room in which they're kind of walking into a tough situation. I think the really critical thing is to make sure to not say I'm sorry. 

That is one thing that when families come to us and that this moment is a flashbulb moment in their lives. When we work with genetic counselors and we're working with medical professionals who deliver that diagnosis, we can pull in a family who has a 20-year-old and they could tell you how that moment was for them and what was said. 

0:42:25

I asked my parents when I started at DSACO just to get a handle, like "Do you remember when the doctors told you?" And Alex is 34 and they can tell just exactly what the doctor said. It may not be verbatim, of course. And it's just how they remembered it, to Dr. Manickam's point, but they will remember it in a much more significant way than I think some medical professionals realize.

Dr. Mike Patrick: Yeah, our words are important. They really are.

Dr. Murugu Manickam: One other thing actually, this comes back to, when we talk about this also, we have to remember that at least our local population, about half of them are prenatally diagnosed and half are post-natally diagnosed. And so those tend also to be different conversations.

0:43:08

The timing and things like that can be a little but tricky when you're talking about prenatally versus post-natally. 

Dr. Mike Patrick: And there's a difference between screening for Down syndrome and actually diagnosing Down syndrome, right? 

Dr. Murugu Manickam: Fantastic segue, yes. Yeah, there's the non-invasive prenatal screen which is a blood test that has only been really available in the last ten years that you can do on mom. We take a small sample of mom's blood and we can actually pick out if the baby might be affected by Down syndrome or some other trisomy, some other chromosomal disorders. It's a good screening test but it's not perfect by any means. 

The only way to definitively know to do something that is invasive that is like an amniocentesis or chronic villi sampling, both of which have a risk associated for miscarriage or complications for the baby. So it's one that you want to really think about if you want to do that. 

And actually, I will also mention that that's actually one of the reasons that that age of 35 came about. It was actually a little bit of a random number because that's about where the risk for having a child with the trisomy was equal to the risk of complications with doing an invasive procedure. 

0:44:18

Dr. Mike Patrick: Very interesting. So in terms of advising families, if their screen is positive, that we think that there could be Down syndrome there, it really is up to the family, right, to decide do I want to risk getting a definitive diagnosis now or do we wait until the baby is born? Because we're doing an ultrasound and make sure the baby's healthy and there's not something that we would need to know about as soon as the baby's born, in case there's interventions that need to be done like a significant heart defect or something. But it's really, you could wait until the baby's born and then check for it then, right? 

Dr. Murugu Manickam: Yeah, that's exactly right. So one thing is that he can have what we call soft markers for Down syndrome also on the ultrasound. So maybe a little bit extra on the skin on the back of the neck. Usually, you do want to get an echocardiogram done in utero because just to know just to know what's going on for the heart. 

0:45:09

So you can anticipate a little bit what the needs might be after the baby's born. There can be, one of the complications we didn't talk about, just again with some cases is that they can something called duodenal atresia where the stomach or the part just passes and actually doesn't quite form like it's supposed to. And so, those babies will need surgery at pretty very young age just to correct that, so they can eat and things like that.

Dr. Mike Patrick: So to anticipate problems. It could be life threatening very quickly if you have don't have intervention. Just knowledge is power and knowing what you're going to be facing, what you have to do after a baby is born.

And again, I know because you and I are medical doctors. We were talking all of these things. And I appreciate, Kari, you bringing up, "Yeah, these are still low risk, people. It's just a little higher than the general population." But as doctors, we think about these things.

Kari Jones: That's good. 

Dr. Mike Patrick: Yeah, someone is thinking about it. But it really then does take a team, right? And the primary care provider or a place like a Down syndrome clinic is really going to act as sort of the quarterback. But you really do have so many specialists that may or may not need to be involved, but it really takes a medical village a lot of times for these families, right?

0:46:19

Dr. Murugu Manickam:  It really does. And actually the quarterback's really the parents. 

Dr. Mike Patrick: All right, the coach.

Dr. Murugu Manickam:  Yeah, that's right. We may be just a little bit like office coordinators, so like defense coordinators. No, it's hard and it's one of those things you have to navigate, what your child needs and who's the best person to oversee some of these things. 

For example, if your child's doing pretty well then a pediatrician's perfect because really what you'd still want is somebody's who's local and is available and all the regular things that they're going to need, you want to have them available. 

But actually, I think of the Down syndrome clinic as being like that, just to make sure that everything else is getting done along the way. The Down Syndrome Clinic through Nationwide Children's is through Developmental Pediatrics as a multidisciplinary clinic where they have someone from developmental pediatrics but they also PT, OT, speech therapy, a social worker available. 

0:47:15

They have lots of resources and so they can take care of all these things that are need. But then you may have a cardiology visit. We in genetics tend to see them early on and then less frequently over time and when they're needed.

Dr. Mike Patrick: I mean, it really is helpful to have someone coordinating all of this and kind of guiding you in the right direction with who you need to see and when you need to see them and keeping track of everything. Because you could easily have a kid in the family kind of get lost in the cracks if someone's not really knowing what to anticipate and pointing in the right direction. 

Dr. Murugu Manickam: Yeah, and so the American Association of Pediatrics has fantastic guidelines that they've developed really over the last 20, 30 years for the care of children with Down syndrome. And it really kind of a laundry list of checkboxes of making sure this is checked and this is addressed and thing like that. And that's something that the pediatrician can easily do and we encourage them.

0:48:07

And we're actually trying to work on some systems to actually improve that and make it easier because when you're seeing 1 of 800 children have this condition, it's hard to remember everything you're supposed to do. So when we can automate that into our EPIC system, for example, then it makes it easier for everybody to know what this do and when is it due? Has this been done? Have you thought about this?

Those kind of things are really important and takes the burden off both the primary care doctor but the family as well. 

Dr. Mike Patrick: And I'll put a link in the show notes to the American Academy of Pediatrics Clinical Practice Guidelines for taking care of kids with Down syndrome. We have a lot of providers who listen to this program so we'll make it easily accessible for them to be able to reference. 

Kari, tell us, so you grew up with a brother with Down syndrome. And, of course, you work with lots and lots of families with kids with Down syndrome. 

Kari Jones: Lots of fantastic families. 

Dr. Mike Patrick: Yeah. What is it like? What's a day in the life like for these families? 

0:49:06

Kari Jones: Well, I think that families will often say more alike than different. That is a really common thing that we say. And I think for the most part, that's true. I think individuals are signing up and engaging in sports and have homework. 

It depends on the age, of course, that we're talking about. But if we're talking about school-aged children, there are going to be a lot of parallels to the typical life of having children. 

I think where some extras come in, no pun intended, but we play a lot on extra around my parts. But I think there are extra therapies and sometimes tutors. I know that growing up, it was really important to stay ahead of schoolwork or stay on it even over the summer. 

So in my organization, we offer summer learning academy with teachers on the team to help combat summer learning loss, because although any child can have summer slide with learning, I think individuals with Down syndrome and other developmental disabilities, they worked so hard to gain those skills. And so, for them to fall behind can set them even further back. 

0:50:21

So I think that is probably an area where we see our families having to spend some extra time for speech. That can be common, too. The clarity in speech can be such a huge barrier to independence. And so, we see a lot of families spending time on that, to make sure that if their loved one is out in the community, people can understand them, things like that. 

But overall, I would say that it's more like being parents to anyone else than that. There are obviously some whose children have significant health issues. And their lives are very different than the typical family that we work with. But for the most part, that's how it's going to be.

0:51:09

Dr. Mike Patrick: Then, it's so very important for those families to have a place of support and when you are dealing with lots and lots of significant medical issues that may go along with Down syndrome. And they can find support with your organization, right?

Kari Jones: Yeah, I think we're there to support families and to help them connect with one another. But if you think of us, I can't think of where we would be in the football analogy, probably just because I don't know enough about football.

Dr. Mike Patrick: Cheerleader.

Kari Jones: No.

Dr. Mike Patrick: No, okay.

Kari Jones: It's more than that. So no offense to cheerleaders. Because I thought of like are we the water people? Or like the pet... But we're much more than that because... 

Dr. Mike Patrick: There's no analogy.  

Dr. Murugu Manickam: I actually think defense alignment is actually the right one. That frontline really that everything kind of little bit depends on how well they do with people will push and stuff like that. 

Kari Jones: I don't know. Here's what I'll say. I think that I tell the team often that they need to act as a concierge. So a lot of people know about hotel analogy.

0:52:07

So you got this concierge that you go ask them where's the best restaurant? Where can I go get a pair of shoes because I forgot to pack a pair? I need a toothbrush. I don't know what to do. I'm sure all of these exist somewhere around where I am right now, but I don't where that is and I do not have the time or the energy to go looking on my own. 

And when I think of who we are as an organization, we're that concierge. Families come to us just shocked when they first get a diagnosis. And they don't know what they don't know. They don't even know where to begin, whether that's a good healthcare provider or getting connected with Help Me Grow. There's so many government programs, but unless you know how to navigate those, it's just really overwhelming. 

We also have a program to help with families in managing health insurance coverage and it's not meant to replace... It's not a health insurance program but it's program to help families understand what their current health insurance covers. Because there can be varying responses depending on working with the medical side to the insurers and going back and forth and getting caught in the logistics of billing. 

0:53:25

And that can be really overwhelming and have nothing to do directly with your child with Down syndrome. But it's like I cannot spend any more minutes on my time, on the phone, trying to figure out this thing. So when I think about... 

Dr. Mike Patrick: It's been done before. Someone's figured it out before. 

Kari Jones: Right, right. So in a nutshell, we're there to make families lives easier. That can look a number of different ways, but we're there as a resource. If we don't offer it ourselves, we can't help you find the right person to get you what you need. And that's usually us calling ahead and saying "Are you the right person this family needs?" 

And then, that way, they're not having to go in a wild goose chase. Which, now that I'm a parent, I understand how little time you have to try and navigate all the things that you might need to know. And my daughter does not have Down syndrome, but I'm just saying generally, being a parent, there's no handbook as far as I'm aware unless you guys have one here. 

0:54:25

Dr. Murugu Manickam:  No, I'm sorry.

Dr. Mike Patrick: We'll try.

[Laughter]

Kari Jones: But they're just...

Dr. Mike Patrick: This podcast... It starts there anyway.

Kari Jones: But I mean, we have a lot of parents who's their first child is born with Down syndrome so they're like what of this is being a new parent, what of this is just the Down syndrome piece? If there are significant health concerns, the Down syndromes are least of their priorities. There's major health issues that need to be tackled first. So I don't know, we're concierge. 

Dr. Mike Patrick: If we're going to go back to the football analogy...

Kari Jones: Oh-oh, why I thought we moved away from that? 

Dr. Mike Patrick: No, no, no. I thought stadium usher. 

Dr. Murugu Manickam: There could be importance for everything, but the other part I was...

Dr. Mike Patrick: I don't know, the directions of where do I go to get something to eat, where are the restrooms, where are you seated?

0:55:11

Dr. Murugu Manickam: But then you're off the field and everyone's out there. 

Dr. Mike Patrick: All right, I got you.

Dr. Murugu Manickam: That's how it works here. The other part I think that Kari a little bit alluded to is really that there's a lot to be made from parent mentors, that families are sometimes they'll be intimidated by talking to a doctor or anybody in the nursery or the NICU. They think I will ask some dumb question, I'm sure everybody asked it. But really if that question is there and it's worrying you, you should get it answered. And sometimes, that's easier to do with another family. 

Dr. Mike Patrick: Yeah, absolutely. 

Dr. Murugu Manickam: And it connected them with those other families, lets them be able to talk and at times to vent, because it is hard, it is frustrating. And you can't always, you are not allowed to say this out loud. But another family that's been there, they know it and they've been through it, and importantly, I think, that they have gone through it and are on to the next thing.

0:56:04

Dr. Mike Patrick: Yeah, they may know what you need before you know that you need it.

Dr. Murugu Manickam:  Exactly.

Dr. Mike Patrick: And the Down Syndrome Association of Central Ohio, of course, is wonderful here in Central Ohio. We have listeners all throughout the country and for folks who would want to find a local support group in their area, the National Down Syndrome Society would be a good place to go to find a support group.

Kari Jones: Yeah. In Ohio, we have downsyndromeohio.org which is a little bit more than a splash page but a page that has the map of Ohio depending on which county you reside, you can see a local organization that's near you. But we work really collaboratively within Ohio that no matter where you live, someone's going to take care of you. 

So if it's easier, you live in Hardin County for example, but you're coming to Children's here already, then we have families connect to us. And we don't really have limits on our border. But yes, the National Down Syndrome Society, the National Down Syndrome Congress, they've got great full listing across the country. 

0:57:03

Dr. Mike Patrick: And we'll put links to all of these resources that we're talking about in the show notes for this episode, 453, over at pediacast.org. So all really important stuff. And I'm just so thankful that you're there to help families and support them as they... 

Sometimes, it can be very difficult but also sometimes very rewarding aspect of their life, right? So we talked about all of the challenges, but there are rewards too, right? 

Kari Jones: Yeah. I mean, 88% of siblings report that their life is better and that they're better people because of their loved one with Down syndrome. And I think that's really great statistic that I think many of us feel and it's a great data point because I think so often we talk, it's good, we love it. You know, it's I'm so happy. But to have that is wonderful and I think it goes beyond siblings too. 

Dr. Manickam talked a little bit about divorce rates and the differences there. But I think overall, I think part of kind of battling is celebrating the victories. And anytime that you have to face challenges, it's very very tough, of course, and that's what we're there for. But we're also there to celebrate the victories. 

0:58:28

We have a mom's meet-up in there, several across our service area where moms can get together on a monthly basis. And we buy the appetizers and they get whatever else they want to get. 

And sometimes, parents will say I got to celebrate with a group of people that understand me that my eight-year-old's potty trained. And it's one of those things that you think, gosh, you could look at it two ways. This parent really had to work so hard for eight years. 

But to be with other parents that knew how hard that road had been and to celebrate with them. She was in tears and I was practically in tears hearing it because she said it was so wonderful to be with people that understood. And we can all just really be so blissful together. 

0:59:12

And I think that's life, right? You work through challenges, whatever they are, and hopefully gets to celebrate when you reach the achievements that you're going for. 

Dr. Mike Patrick: Yeah, really good points. There's going to be a lot of listeners who are not impacted by Down syndrome in their day-to-day life. This is something you hear about, you see about it on TV. You see some families and you identify, you can identify what it is. 

Are there ways that we, those who are not impacted by it, can reach out and help support those who are? 

Kari Jones: Yes. I will say in a not even direct way where you have to even connect with our organization, although I'd love for anyone to do that, inclusion and authentically including people, whether that's you through your employment and your employer and pushing for having more employees with developmental disabilities including Down syndrome, whether that's talking to your children about inviting all of the kids in their class to a birthday party. 

1:00:18

Getting to know that individual, saying "Hi, how are you?" and engaging in an authentic conversation directly with someone with Down syndrome or another developmental disability is an easy way that you don't even have to click an email or click our website. You don't have to go seek out extra time, just make that a part of how you operate. And that is going to be a big game changer. 

Dr. Mike Patrick: Yeah, a really good point. 

Dr. Murugu Manickam: Yeah, the inclusion part is so vital these days. You brought up before the empathy, that comes along with just being to someone who's there when you need them. There are going to be days that all of us need a little bit more empathy and having that understanding for when your friend who's got Down syndrome or your friend who doesn't have Down syndrome just needs a little more help, you're there and available for them. 

1:01:10

Kari Jones: I'll spare you the long story but my brother lives on his own and he's lived in his house for about a year now. And at one point, I was over there kind of late and I think some of the neighbors got a little freaked out because they didn't know it was me and they couldn't see. But they saw a person kind of going around his house.

And one of them came outside and said "What are your doing there? Who is this? What are you...? And I said, "Oh, I'm Alex's sister," and I said, "Thank you though for looking out for him." And she said, "I do, we all do." And she pointed to all the neighbors.

And that was the moment that really made me feel like that was her way of supporting him in our community, by being a good neighbor. 

Dr. Mike Patrick: Absolutely. 

Kari Jones: Just straightforward, but...

Dr. Mike Patrick: Speaking of your brother, 35 years old, living independently. What resources are out there for folks with Down syndrome particularly adults who maybe don't have strong family support. Or their families, they moved away or they're no longer available. Maybe mom and dad had passed away. When they get into trouble, is there a place that's looking out for them? 

1:02:19

Kari Jones: Yeah, we're connected with many adults, some of which have, it depends, the level of engagements from parents and families. But the Country Boards of Developmental Disabilities have a structure. And, obviously, in Franklin Country, it's the Franklin Country Board of DD where they have a service coordinator or an SSA, they call it in some counties. But someone that's there to help be the keeper of information for that individual to help them live their best life. 

Dr. Mike Patrick: Yeah, to advocate for them.

Kari Jones: Yeah. But, there usually a number of individuals, whether that's a coach from Special Olympics, or they are just an employer, co-worker that's looking out for them to, it depends. Some individuals are their own guardians, have some have appointed guardianship, it just depends on the individual. But there's a village. 

1:03:13

Dr. Murugu Manickam: And Kari, about that too, a lot of sibling that are very attached to their brother and sister with Down syndrome will actually just take them into their own family. And whether it's living close by so that they have some support but some independently or within their own house, they just take that on as the responsibility. And it's not one that a lot of families would ask, but it's one that they always volunteered to do.

Dr. Mike Patrick: Yeah, really important stuff. Terrific conversation today. Just thank you both so much for stopping by and visiting us. 

We're going to have a lot of information in the show notes over at pediacast.org for this episode, 453. We'll have a link to our Down syndrome Program here at Nationwide Children's Hospital, the National Down Syndrome Society, the Down Syndrome Association of Central Ohio, the National Down Syndrome Congress, Special Olympics, and of course, the Guidelines Health Supervision for Children with Down Syndrome from the American Academy of Pediatrics. 

1:04:11

And then, I had mentioned our special episode with sports medicine on athletes with disabilities and adaptive sports medicine, all of these things in the show notes over pediacast.org.

Dr. Murugu Manickam: I was going to do one more plug, too. Another group that's fantastic in Central Ohio is called Buddy Up Tennis. It's a program that's started for kids and adults who have Down syndrome and specifically for tennis. It started here in Central Ohio about 12 years ago. Now, it's spread to over 27 cities around the United States. 

But Saturday mornings, they actually will have about 30 to 40 athletes and actually 30 to 40 volunteers that will come out on a Saturday just to help the kids learn how to play tennis. And again, another one of those that you see, these advancement these kids make over time is really rewarding, it's a lot of fun.

Dr. Mike Patrick: Yeah, that does sound fun. And I'll put a link to that organization in the show notes as well. 

1:05:01

All right, well, Dr. Murugu Manickam, clinical geneticist here at Nationwide Children's Hospital, and Kari Jones, president  and CEO of the Down Syndrome Association of Central Ohio, thanks so much to both of you for being here today.

Kari Jones: Thank you.

Dr. Murugu Manickam: Thanks for having us. 

[Music]

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. 

Thanks to our guests this week, Dr. Murugu Manickam, clinical geneticist with the Down Syndrome Clinic at Nationwide Children's Hospital, and Kari Jones, president and CEO of the Down Syndrome Association of Central Ohio. 

1:06:06

Don't forget, you can find PediaCast in all sorts of places. We are in the Apple Podcasts app, Google Podcasts, iHeart Radio, Spotify, SoundCloud, soon to be Pandora, and most mobile podcast apps for iOS and Android.

We also have that landing site with our entire archive of past programs, show notes for all of the episodes, written transcripts for many of them, our Terms of Use Agreement and that handy Contact page if you would like to ask a question or suggest a topic for a future program.

Reviews are always helpful wherever you listen to PediaCast and we appreciate it when you take a moment to share your thoughts about the program. 

Love connecting with you on social media. You'll find us on Facebook, Twitter, LinkedIn and Instagram, simply search for PediaCast.

Word of mouth is really the best way to tell others about the program. So when you're visiting family, friends, neighbors, co-workers, babysitters, anybody who has kids or takes care of kids, please let them know we have an evidence-based pediatric and parenting podcast  for them and really try to be helpful for parents everywhere and those who take care of kids.

1:07:10

That includes, by the way, your child's pediatric healthcare provider. Please do tell them about the program so they can share it with their other families and patients. And while you have their ear, let them know we have a special podcast just for them. 

Actually, a lot of pediatric providers do listen to this program because of the detail that we pay to disease processes. So, we try to speak to speak in plain language levels that parents can understand if you're not a science expert, but with enough detail that we do have a lot of providers who listen. 

But, we have a special program that's just for them. Although, parents can listen too if you want to. It's similar to this show. We turn the science up a couple of notches and offer no cost ad-free Category 1 Continuing Medical Education Credit for those who listen.

Shows and details are available at the landing site for that program which is pediacastcme.org. 

1:08:05

There's no rule that parents can't listen to the CME show, you just might have to look up a term or two. Those shows are also in Apple Podcasts, iTunes, Google Play, iHeart Radio, Spotify, and most mobile podcast apps. Simply search for PediaCast CME.

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.

[Music]

Announcer 2: This program is a production of Nationwide Children's. Thanks for listening. We'll see you next time on PediaCast.
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