Stuff You Should Know - How Down Syndrome Works

Episode Date: December 1, 2022

People with Down syndrome lead rich, complex lives like any other human, but it’s only been in the last few decades that everyone else stopped persecuting them long enough to notice this. As a result, both their IQ and their life expectancy skyrocketed.See omnystudio.com/listener for privacy information.

I'm Munga Shatikler and it turns out astrology is way more widespread than any of us want to believe. You can find it in Major League Baseball, international banks, K-pop groups, even the White House. But just when I thought I had a handle on this subject, something completely unbelievable happened to me and my whole view on astrology changed. Whether you're a skeptic or a believer, give me a few minutes because I think your ideas are about to change too.

Just a Skyline drive on the iHeartRadio app, Apple Podcast, or wherever you get your podcasts. Welcome to Stuff You Should Know, a production of iHeartRadio. Hey and welcome to the podcast, I'm Josh and there's Chuck and Jerry's here too and this is a good old fashioned Stuff You Should Know and it's serendipitous Chuck, do you want to know why? I know why. Oh, you do? Oh, it's here.

Well, I think you're probably going to say that we're recording this during Down syndrome month. That is correct, sir. Although it will be released in November, probably? Yeah, but still, we're recording it in Down syndrome awareness month and I had no idea that October was Down syndrome awareness month, so I think it's pretty cool that it worked out anytime it works out like that. That's right.

So, we're recording way ahead of time, we're trying to bulk up for our Christmas holiday break that we like to take. That's right. I voted today, early voting, if that shows you when this is. Congrats, Chuck. And it felt good to just get it done, get it out of the way and it feels good to do this episode because Down syndrome is a condition that has really, really, really changed a lot like in our lifetime.

Oh yeah. This is the 1970s and how it's viewed, how it's accepted, and actual health outcomes. And a lot of those health outcomes actually have something to do with how it's been viewed and accepted, which is remarkable and sad if you're speaking historically. Yeah, yeah, for sure. But I mean, just the headway that's been made thanks to, in large part, the disability rights movement, people with Down syndrome have really benefited from that and I'm happy as can be about that too.

That's right. We should say from the outset, we're talking about a group of human beings who, like any group of human beings are incredibly varied in talent, skills, hopes, dreams, medical problems, facial features, all that stuff. So to say like Down syndrome people all look a certain way or they're all happy all the time is stereotypical and incorrect at the very least. So we just want to preface all of this, that we're talking in total generalities here about Down syndrome people in general, but just keep in mind this is not some Pat group, like

any group of humans is not some Pat group. That's right. Although I will say every kid that I've ever met who had Down syndrome, which has been a handful, have been some of the most wonderful, loving, sweetest kids I've ever met in my life. Every single one. And I've met some other kids who are just jerks. Yeah.

For sure, for sure. And again, it's a stereotype, but it seems to be rooted in a lot of anecdotal evidence. Yeah. For sure. Just keep in mind, like the people with Down syndrome have rich inner lives and they're happy sometimes, they're sad sometimes, they're angry sometimes, they're frustrated sometimes, they're glad sometimes. Like again, they're human beings, so just don't forget that.

So again, we caveated that by saying we're talking in general and this doesn't apply to all people with Down syndrome, but there are some facial characteristics that the majority of people with Down syndrome typically have that make them readily recognizable, I think. Yeah, for sure. And we should preface this also by saying that at this point it's about, I've seen between one in every 700 and 800 babies born in the United States have Down syndrome. So it's kind of somewhere in that range. And if we're talking typical physical characteristics, almond-shaped eyes that typically slant upward.

Sometimes the net can be shorter, the ears can be smaller. Sometimes in some of these I didn't even know, there can be tiny white spots in the irises of the eyes, hands and feet may be a little smaller. And another interesting one, a crease across the palm of the hand, did you ever heard of that? I had not. And then small pinky fingers that sometimes can curve toward the thumb and are generally a little shorter than average.

Yeah, they also typically have less than average muscle tone and loose joints frequently. And one of the things that I did not realize before, but I do now after doing this research is that a lot of the stuff that I think people chalk up to cognitive impairment among Down syndrome people are actually the result of motor impairment. They're actually like a really good example is speech. They tend to become verbal later than non-Down syndrome kids. But it's not because they don't know how to talk, it's because their mouth muscles haven't developed enough to actually talk.

And that can actually lead to a tremendous amount of frustration because you're a kid who is unable to express himself or herself. And you would think like, oh, you know, this kid with Down syndrome can't talk yet because of cognitive inabilities and that's just not the case. There are also medical issues that are typically arise when you have Down syndrome. And this is just something that, you know, that parents need to know if you have a baby with Down syndrome, you're going to get a lot of information thrust upon you. And there's a lot of information medically out there.

One of the big ones is a congenital heart defect, which is about half the people with Down syndrome end up having this. About half might have some hearing and vision problems, which can range, you know, the vision can be anything from cataracts to just regular old nearsighted and farsightedness to strabismus, which that is something I've heard of before. That's when the eyes don't track together. Yeah. A lot of people used to call it being cross-eyed.

Yeah, exactly. And then I think later in like the puberty years, they found that sometimes they can lose their sense of smell. Is that right? Yes. Which is fascinating. And we'll talk a little more about that later on because they may have found a way to treat that incidentally.

But yeah, there seems to be like a decline in ability to smell and in cognitive abilities around puberty. Okay. Early problems can happen, usually hyperthyroidism, tummy issues, sleep apnea or asthma, like some kind of general breathing issues, childhood leukemia, and then another thing that we'll talk about a little bit more, and it's very sad, but Alzheimer's disease can come pretty early sometimes. Right.

So what we just did, Chuck, from what I understand is what a doctor will basically tell a parent when they find out that their child or their fetus or their child in the womb, however you want to put it, almost certainly has Down syndrome. And I saw a Down syndrome rights activist who was like, yeah, I think if you gave an expecting parent a list of all the possible medical problems any person could have, like no one would have a kid. So just bear in mind that there's actually more, it can be more pronounced than this, it can be less pronounced than this, this is just kind of the Down syndrome population

just tends to have these problems more than the general population. Right. That's a good way to put it. And we'll talk about this a little bit more too, but your chances of having a baby with Down syndrome increases as you get older. So if you're 25 years old, the chance is about one in 1,250. And then if you're 40 plus, that goes to about one in 100. But we said now it shakes out to an average of about one in 7 to 800 when you take the

full birth and age range. Right, exactly. I also saw that somebody who has already had a baby with Down syndrome is more likely to have another baby with Down syndrome. And you said something about the syndrome being tied to the mom's age, I saw something like 90 something percent of Down syndrome cases are the result of the donation of an extra chromosome by the mom. And I didn't understand that until I saw it explained by an author from an Atlantic article,

that's really good. Her name is Sophia Zhang. And she explained that I didn't realize this either. When a woman's eggs develop, they actually develop while she's a fetus. Before she's even born, her eggs are set and they contain one set of 23 chromosomes. You put that together with the 23 chromosomes carried by a male sperm. When they fertilize, you get a full 46 chromosomes. But over time, as the woman ages, the proteins that hold those chromosomes in place and lock

them in where they should be, that can degrade and so they can kind of move around or do different things or get copied additionally, accidentally. And that is the basis of Down syndrome. It's also called trizomy 21, which means that there is a third copy of chromosome 21. That's Down syndrome. That's what causes Down syndrome. It's the one thing all people with Down syndrome have in common. Most all people, I should say, it doesn't even capture the full population of Down syndrome

if you think about it. Yeah. And like you said, I think in 95% of the cases when you were born with that extra number 21 chromosome, it is inherited from the mother and that is, it looks like usually is a result of the degradation of that protein that's holding everything together. So it's really, I never knew that, it's pretty amazing that we know so specifically how this stuff works now. I think it was chromosome 21 was the second human chromosome that was fully sequenced as

part of the human genome project. And it's that extra chromosome, that number 21 that causes all of it. Yeah. I know that it's one of the smallest chromosomes, if not the smallest chromosome, but it's responsible for encoding anywhere from, I saw it 200 to 400 different genes and some of those genes express different proteins that can be used in more than one reaction. There's one called Nuclear Hormone Receptor Interacting Protein, awesome name. Probably not a band name though.

No, I don't think so. Too much. It's involved in 20 different functions in the human body, just that one protein that's expressed by one of those 200 to 400 genes on chromosome 21. So when you put all that together and you realize how many proteins are involved in how many different functions, that's how you get kind of this galaxy of symptoms that make up Down syndrome essentially. Yeah.

And you mentioned that the Trisomy 21 doesn't even cover the full range of Down syndrome. That is because that's about 95%, the other 5% come from two other ways that you can have Down syndrome. One is Translocation Down and that is when there is either a piece or a part or either a whole extra copy of number 21 that's out there, but instead of being distinct and separate, it's attached or translocated to a different chromosome and that accounts for 3%. And then, and this is, I know a kid, a friend of our family who has Mosaic Down, that's the third type.

And that is, accounts for the other 2% and that is when some of the cells in your body do have the three copies of the chromosome 21, but others have the two, which is what you usually have. So it's sort of a mix and they're all kind of similar, but if you do have Mosaic Down, then you tend to generally have fewer of the typical features that you think of when you think of Down syndrome. Yeah, they represent it by a percentage of cells in your body that have the third chromosome and that percentage reflects that.

Also that Mosaic Down syndrome occurs after the egg is fertilized. So it occurs during fetal development, like a cell divides differently and that third chromosome is generated in some of the cells. That's why some of the cells go on to divide. They didn't have that, that different division. They had regular two chromosome or two pair chromosome division, right? So that explains one of the mysteries, I think, behind Down syndrome, which is how you could have identical twins and just one of them has Down syndrome and the other one doesn't.

Oh yeah. Did you just figure that out? Like, is this breaking news from you? Oh, I see. Maybe. No, it's not. Maybe. It's my little contribution to the field.

All right. I think that's a good sort of general overview. Maybe we should take a break and we'll talk a little bit about, I'm just going to go and say it, the shameful history of how humans dealt with people with Down syndrome. I'm Mangesh Atikular and to be honest, I don't believe in astrology, but from the moment I was born, it's been a part of my life. In India, it's like smoking. You might not smoke, but you're going to get secondhand astrology.

And lately, I've been wondering if the universe has been trying to tell me to stop running and pay attention, because maybe there is magic in the stars, if you're willing to look for it. So I rounded up some friends and we dove in and let me tell you, it got weird fast. Tantric curses, Major League Baseball teams, canceled marriages, K-pop, but just when I thought I had a handle on this sweet and curious show about astrology, my whole world came crashing down. Situation doesn't look good.

There is risk to father. And my whole view on astrology, it changed. Whether you're a skeptic or a believer, I think your ideas are going to change too. Listen to Skyline Drive and the iHeart Radio app, Apple Podcast, or wherever you get your podcasts. So if you're talking human history, there has always been, it seems like Down syndrome, you dug up this, was that like a clay sculpture or something? I didn't dig it up.

I think an archaeologist did, but yes, I found it on the internet, if that counts for anything. Dug it up on the internet. That was from 500 CE, that it very much seems to be someone with Down syndrome. There also been other various works of art. There's a very famous Flemish painting called the Adoration of the Christ Child from 1515, where there's an angel, quite a few angels, but one of them seems to have the physical characteristics that we associate with Down. So it has been there for a long time, but very sadly, it wasn't even that long ago.

Certainly if you were really far back history, your chances of living with Down was pretty low for living any kind of life, if you lived at all. It's a very short lifespan back in those days. And then if you did manage to live, you were probably sort of cast out of society and institutionalized and this kind of stuff was going on up until like the late 60s and early 70s. Yeah. I think in 1960, in the United States, if you had Down syndrome, your life expectancy was 10 years old.

And again, anytime you hear like, oh, well, the people in the olden days just lived to be 35. No, so many children died at birth that it skewed the average life expectancy that far downward. Yeah. So it's understandable, especially in pre-medical days, because so many, I think like half are born with congenital heart defects and that you have to undergo surgery starting about three days after you're born when you have something like that to correct it and it takes

multiple surgeries. And before the advent of that, you were not going to live very long as a baby because you had a congenital heart defect and no one had any idea what that even was, let alone how to treat it. Yeah, if you wonder where it gets its name, in 1862, there was an English physician named John Langdon Down, that's where the name comes from, who first identified it. And it was sort of an important distinction at the time because it did make a distinction between what at the time they categorized as a mental disability and an actual sort

of, well, it took a long time before they identified the chromosomal issue. But it was a big distinction at the time. And for many, many years, they, and this, Olivia helped us put this together, points out that this is very offensive in many different ways. But the term mongoloid was used, and this could be an interesting short stuff. It was based on the idea that if you were white and you had Down syndrome, then you might resemble someone who is East Asian or what they referred to as Mongolian back then, which was, and this is the part that I think would be interesting, is Johann Blumenbach's

racial classification system, which was Caucasian, Mongolian, which was East Asian, Malayan, which is Southeast Asian, Ethiopian, which was basically any part of Africa, and then American, which meant indigenous Americans. Obviously, that's super outdated, but I think it could make for an interesting historical short stuff. I think it might actually be its own episode, because I was looking into it, yeah, and apparently it's still generally respected, even though it is, the terminology is outdated, and of course, there's way more subcategories of people, and the idea of race is even considered

a social construct now. Blumenbach is considered the first scientist to purposefully divorce racism from science, so as racist as calling someone Mongolian now seems, his purpose was to prevent that, to just create a specifically scientific approach that's not racist to different types of people. Yeah, maybe we should tackle that. The long and short of this, though, is that the term Mongoloid was around, I remember hearing that word when I was a kid. Yeah, that was Devo's first single in 1977.

Oh, really? Yeah, that was the first single they ever released was Mongoloid. Oh, I love Devo. Yeah, I mean, otherwise, they're pretty great. Good feeling. What a song. Yeah, the more I listen to them, the more I'm like, these guys were just amazing, and then to think of them performing in the late 70s and early 80s and coming up with this,

it's like they weren't working off of anybody else's stuff, it seemed like they were their own group. This is good kid's music, too, by the way, if you're a parent and you have a young kid and you want to introduce them to cool music, like something about Devo like really made my daughter dance early on. Oh, dude, whip it, maybe the best song to dance to and definitely to run to as well. I have one more little music tidbit about music titles that were unkind to people with Down syndrome.

Black Eyed Peas, do you know that song Let's Get It Started? Yeah. That was a re-record. The NBA came and said, hey, can you re-record your song Let's Get R-worded, which is the original title of it. Oh, really? Yes, and they re-recorded it for the NBA and ended up releasing it as a single. It became a huge hit, but that is not, Let's Get It Started is not the original title of

that song or original lyrics. Wow. I do not know that. It's true. And that was in 2003. That is a black eye on the black eyed peas. Sorry. This one.

So that term, the term Mongoloid was actually sent to the World Health Organization in 1965 from the nation of Mongolia and said, hey, maybe you shouldn't be using this word anymore, but it took a little while for it to catch on that we shouldn't be using that word. And now we just say down syndrome, like we should. Yeah. It's not a downy or a down person or anything like that's a person with down syndrome like any other condition. And that's also why, because it's named after John Langdon Down, why it's a capital D lower

case S when you spell it out. Yeah. And you know, a lot of people say downs, which is incorrect, but I have seen that that has kind of become kind of accepted. And I think it felt a little more like resigned to than accepted. You can see that. So Chuck, one of the things that is just a real blemish on the history of humanity. And I think I hope becomes even more so as we progress as a species.

People with Down syndrome were targeted for eugenicists like right out of the gate. They were an obvious population to target. They were considered completely dependent on society, a burden to their families. And the premise was that you either needed to institutionalize them essentially from birth, like back in the day, not too long ago, when you figured out that your baby had Down syndrome, you said, here you go, state, thank you for taking care of this child for the rest of his or her life. We're washing our hands of him or her.

Or they were sterilized against their will or both. Yeah. And it's very sad and shameful and I mean, that's sort of what we've seen time and time again of any kind of mental issues that people had. It was just like, you know, put them behind closed doors where everyone else can just not think about it anymore. Right. So that's, I mean, they were neglected.

They were probably beaten in many cases. They had no access to medical care or any kind of stimulation. They were just basically left to rot for the sole reason that they had Down syndrome. And again, this was based on really faulty information, the idea that they would never speak, that they couldn't walk correctly. They would never be able to perform any kind of like socially productive work or anything like that. They were just to be left in these institutions.

And finally in the 60s, the whole deinstitutionalization movement that really started to take hold, we kind of referenced in the Rosenhan Han experiment episode. That benefited people with Down syndrome too. And so they were released from the institutions and were now raised at home in the community and almost immediately the life expectancy for Down syndrome people skyrocketed because it turned out the greatest risk factor for death for Down syndrome person was being institutionalized. That's how mistreated they were. Man.

But that's hard to even swallow, you know, like, hey, it turns out if we care for people and treat them as human beings and give them love and healthcare, then they'll thrive and survive. Yep. It's true. It's really sad. But it's actually, you know, since the 1970s, it's not sad. It's been wonderful.

In 2007, Americans with Down syndrome live an average of 47, I've seen that number average go as high as 60. I think there was an Australian study that had it at about 60. Between 1979 and 2003, the rate of death within the first year dropped from 8.5% to 5%. And the quality of life has just been, there's been a huge sea change. And like I said, we're talking within our lifetime. This was like pre-1980s, people were still being institutionalized from infancy sometimes. So they were, you know, not necessarily banned, but just sort of weren't brought out in public,

weren't taken to the movies, weren't taken to parks and things like that. Even in 1946, Benjamin Spock, you know, the very famous Dr. Spock who wrote the famous baby book, and this was a supposedly progressive person at the time, said that mongoloid babies should immediately be institutionalized since if the infant merely exists at a level that is hardly human, it is much better for the other children and the parents to have him cared for elsewhere. Yeah. And this is Dr. Spock who is considered extremely progressive and arguably the person who ruined

the baby boomer generation by giving poor advice to their parents. But regardless, he was a very progressive voice and this is what he was saying. That's how widely assumed that this whole idea about Down syndrome, people was that late in the century. So again, in the 60s, the 70s, the disability rights movement comes along and says, hey, these people are being mistreated for no good reason. If you visit with somebody who has been raised at home with parents who send them to school and care about their stimulation, their IQ starts to increase tremendously.

I think there was a study from 1979 that found that Down syndrome people raised in institutions had an average IQ of 20 to 30 and then those raised at home with stimulation had IQ of about 55. And as people kind of changed their perception, what I should say is Down syndrome people changed other people's perception more and more. They started to graduate from high school, graduate from college, get driver's licenses, get married and just start living more and more normal lives. Again, depending on the amount of self-sufficiency they're able to maintain.

Some people at Down syndrome live with their parents for the rest of their lives. Some people have an apartment with their buddies. Some live alone. It's just, again, it's a spectrum of what they're capable of or even what they are interested in. Yeah. And I was about to say I'd love to see that study today because that was all the way in 1979, but thankfully you're not going to get that study today because they are no longer

institutionalized like that. Yeah. But there's one part of that study that I bet they could just do IQ studies and I bet that would be even higher is what I was trying to get to. If it was a good study, you could reproduce it using the same methodology today and you'd be able to compare the institutionalized to that stimulated at home. Yeah. That's a good point.

Yeah. So let's talk a little bit about development. And this is sort of all over the map, intellectual, physical development, social development. And again, these are generalizations and you'll see in a lot of cases that kids with down syndrome can be behind in some ways by just a little bit, sometimes behind by a little bit more, sometimes ahead in other areas. And it starts at birth basically. In infancy, things like feeding, and this is because of the muscle tone issues and hypermobility,

things like feeding during infancy can cause problems or problems with feeding, which can lead to constipation problems. They may be a little smaller physically at first and be a little slower on the growth curve than their peers typically develop. But as they kind of catch up as they get older and that generally improves and those developmental milestones, feeding themselves, dressing and stuff like that, using the toilet, you mentioned speaking, they might happen a little bit later. Right.

I saw it explained as they can and do develop skills throughout their lives, but they just reach goals at a different pace. Right. And you know what? All kids reach goals at different paces. So it's just about setting expectations as apparent. One of the things that is available now that is really helping to increase not just life expectancy, but also quality of life among people with down syndrome is occupational

therapy. I figured out that basically the moment that you realize that your child has down syndrome after they're born, you want to start different kinds of therapy. I think occupational to start because it's so hands on and physical. But some of the things I saw that you can do at home because they have smaller fingers and smaller hands and pinkies that curve on average. One of the things you want to do is help them learn to hold the pencil properly or manipulate things with their hands better.

So you have them play with Play-Doh or paste Cheerios to like construction paper or something like that. Stuff that like you use like the very fine motor skills for and then also ones that require like big motor skills. Like I saw focusing on your core is really important because a lot of people with down syndrome are considered to not be able to engage in self care because again, it's a cognitive disorder or disability. It's actually not necessarily the case in all cases.

It's that their core is not strong enough or toned enough to hold themselves up while they put on a sock or tie their shoe or something like that. Yeah, absolutely. So that's what occupational therapy does is help get that stuff in order so that they can start to excel and hit those goals sooner. Yeah. And the occupation in this case is being a baby. That's your job.

People functioning, it's usually a little less delayed. If you have a baby with down syndrome, you might be looking at a week or two sometimes for things like recognizing faces, looking at faces, smiling back at somebody, recognizing a smile, communicating through just like gestures and that Goo Goo Gaga type of stuff. Could just be a week or two, some kids might have a greater reading ability than might be typical for someone their age or at their cognitive level. The delays in spoken language we talked about a little bit, their math and their number skills might be a little bit behind, usually about two years behind the reading skills.

But if the reading skills are a little advanced, it might not average out to be that much farther behind than their peers. And then there's so many different ways kids learn these days and that kids are being taught according to their needs, which is the biggest breakthrough in education of the past couple of decades is recognizing that not every kid is in a box and learns the exact same way. And if you have down syndrome, then you have much better visual processing and visual learning skills than maybe with words. So you're going to be working with your teacher either sometimes in special classrooms, sometimes

in just the regular classroom to work with that kid, to teach them a little differently. Yeah. I think integrating classrooms together with people of different cognitive levels, especially if you're now teaching people differently rather than making them all conform to one thing that seems like that would allow for integrated classrooms a lot more, which I think is absolutely wonderful. Yeah. And it happens in all kinds of ways.

Talk to your school, see what kind of support that you can get. Sometimes it's just regular class for most of the day. And then there are specialists who come in for a couple of hours, maybe every day, sometimes a few days a week. If you're able to, sometimes you can hire someone privately to assist with stuff like that. But it's just be in good contact with your school and with your teachers. And it's just a different scene than it was when we were kids.

Yeah. And you can thank your federal government for passing laws that banned discrimination in public schooling against cognitive disabilities. The IDEA Act and then the ADA both guarantee quality public schooling for kids of different cognitive abilities and in fact, like tailored schooling, depending on their needs, which heads off to that one because I can tell you not every state would offer that if that weren't a law. No, they wouldn't.

Chuck, I had one foot up on a soapbox. I'm going to step back down. That was very close. Very close. So let's take a break and I can shake it off. How about that? All right. We'll be right back.

I'm Mangesh Chitikulir and to be honest, I don't believe in astrology. And from the moment I was born, it's been a part of my life. In India, it's like smoking. You might not smoke, but you're going to get secondhand astrology. And lately, I've been wondering if the universe has been trying to tell me to stop running and pay attention because maybe there is magic in the stars if you're willing to look for it. So I rounded up some friends and we dove in and let me tell you, it got weird fast.

Patrick curses, Major League Baseball teams, canceled marriages, K-pop. But just when I thought I had to handle on this sweet and curious show about astrology, my whole world came crashing down. Situation doesn't look good. There is risk to father. And my whole view on astrology, it changed. Whether you're a skeptic or a believer, I think your ideas are going to change too. There's a skyline drive in the I Heart Radio App, Apple Podcast, or wherever you get your

podcasts. Okay, we're back, Chuck. And before we get started, we just want to give a little shout out to our ongoing pledge drive for our friends at Cooperative for Education, right? That's right. And the great nonprofit in Guatemala that we've been working with for many years, let us know that the Stuff You Should Know Army, since we started working with them, has donated just about $100,000 shy of a million bucks.

So we want to help them get to that million dollar mark. And there's a really quick, easy way to donate, right? Yeah, they set up a page just for you to go donate. It's cooperative4education.org slash S-Y-S-K. And it's a very painless process, just chip in whatever you can. And if everybody chips in whatever they can, then we'll come up with a bunch of money for Co-Ed to use to help kids in Guatemala break the cycle of poverty. That's right.

Should we talk about Down syndrome testing? Let's, because it's a fairly new thing until I think that really kind of the 80s is when it really started to become much more common. You had no real idea whether your baby was going to have Down syndrome or not until they were born, even sometimes after they were born. That's right. But now it's different, right? They have different kinds of tests that they can do as early as nine to 13 weeks, I think?

Yeah, there are a few different kinds of tests that can be used together to make this determination or separately or, well, I guess those are the two ways. The first thing that you might start with is a blood test. And this is between nine and 13 weeks gestation. And that is measuring plasma protein, pregnancy plasma protein A, which is called PAPPA. And then something we've talked about before, HCG, human, chorionic, gonadotropin, right? Very nice, yes. After that, between 11 and 13 weeks, you're going to have an ultrasound that's going to

measure the back of the fetus's neck to see if there is any unusual fluid collecting there. And then a doctor will take the ultrasound, that first test, and they will see the maternal age and then say, all right, this may be the likelihood of you having a baby with Down Syndrome. Right. And if it's really high, they'll say, we recommend you do more invasive testing. Because this thing, a blood test, they're just taking blood from the mom and checking it out.

And it's not very invasive, but it's also not quite as accurate as a more invasive test like an amniocentesis. Yeah. And also carries you at risk of the blood test. Yeah. Although it's risky if you don't like needles. Well, yeah, that's true. There's also another one called chorionic villus sampling or CVS.

And one uses cells from the placenta. One takes a sample of amniotic fluid, the amniocentesis does. And they're a little more invasive. And because of that, there is a slight chance that the mother will miscarry from the test. And they always blame the tests forever. But now, I think they're starting to think that there's a chance that in at least some of the cases, the miscarriage would have happened regardless that it actually wasn't the test that triggered it.

And I saw everything from one in 100 pregnancies miscarry after the test, all the way to one in 900 in Alberta, which is apparently where you want to get these tests carried out because the chance is much, much lower there. But they're 99% accurate. That's why they perform these tests in the first place. That's right. And then there's a new test, sort of the newest thing going. It's noninvasive.

It's called, in fact, noninvasive prenatal testing, NIPT, or screening NIPS. And that analyzes, and this is really cool stuff, it analyzes fragments of DNA from the blood and some of that is going to come from the placenta with the idea that placental cells or placenta cells, DNA is usually identical to that of the fetus. So it's a really simple way to screen for these abnormalities really early on, like 10 weeks in. It's been around since about 2011 has become much more popular, but it has still not been cleared by the FDA.

And the FDA even this year said, don't just get that test. Like, if you want to get that test, you can get that test, but just don't look at those results alone. Right. And the reason the FDA would say anything like that is because the point to these tests for the vast majority of people who get them are to determine whether they're going to keep this pregnancy or not. Right.

There's a lot of concern among people who are part of the Down syndrome community that there's not a concerted effort to wipe out people with Down syndrome from the diversity of human types. But that a million different individual decisions all going the same way can ultimately have the same effect. It really depends on where you are in the world. Again, I think I call her Sophia Zhang. I'm sorry.

Her name is Sarah Zhang. She wrote that article in the Atlantic. Great article. Yeah. It was really wonderful. I guess if an article about accidentally eradicating Down syndrome people from Earth could be wonderful. It definitely is. But she focused on Denmark where there's something like I think 95% of people who come back with

a screening that says, yes, your baby is going to have Down syndrome or has Down syndrome. They abort. They choose to abort the pregnancy. And I think it's even higher in Iceland. I think it's approaching 100% in Iceland. And as a result, the number of people with Down syndrome being born there is plummeting in, I think 2018 Sarah Zhang said in Denmark, 18 people were born in the whole country with Down syndrome.

Wow. Only seven of them were purposefully born. The other 11 had gotten false negatives and it carried on with the pregnancy and you presume that some of them probably would not have otherwise. Wow. I wonder, I don't know, I wonder what it is about that part of the world. I don't know because if you read the article, she really goes on about how that country in Scandinavia, I think in general, really considers itself very diverse culturally

and very inclusive and they're not anti-disabled people or anything like that. But when it comes down to it, it's like, yeah, those individual decisions, very private decision, they add up to that in private. In public, it's different. In private, it's a completely different game, apparently. Yeah. And we should also mention that when you get these tests done and they come back, you have that choice to make, but a lot of times it's also like preparing yourself.

Yeah. Like, yeah, I'm going to go through with this pregnancy and I want to know what to expect. I want to prepare myself. I want to educate myself. I want to, there's money involved, which we're going to talk about in a minute. So I want to get my finances squared away or make sure I can have it squared away. I guess we should talk a little bit about some of the statistics. The abortion rate for Down syndrome positive pregnancies is declining, for sure.

It's kind of tough in the US because they don't have great stats, apparently. But the CDC said between 79 and 2003, the number of babies born with Down syndrome increased by 30% over that timeframe. And a 2012 analysis found that termination rates for fetuses with Down syndrome was between 67 and 85% and was declining. Yes. And that's the US only. It doesn't appear to be declining in some of the Scandinavian countries, for example,

in other places in the world. I think Japan and China also have really high abortion rates for Down syndrome positive pregnancies. But the US, there's a few factors at play for why they would be declining and the Down syndrome population would be increasing. I think the National Down syndrome Society says about today, about 5,100 people with Down syndrome are born each year. And there are, like I said, a few reasons why it's increasing.

One is just because they've been brought out of institutions and people have been able to see like, oh yeah, these are human beings. They're different from me, but they're still human beings and they're the same as me in a lot more ways than I realized. And also, again, anecdotally, they're amazing people too. Right. Absolutely. It's like, oh goodness, when we just accept people as people, then everything gets better.

Right. So that was just one factor. There's some others too. Yeah. One of them, well, one factor is Hispanic women are much more likely to give birth regardless of whether or not they have a Down syndrome positive pregnancy happening. Right. And then another factor that can be complicated is that these screenings used to be something

that you specifically request. Now they're a little more standard. So that could just overall, if you're just going to have more screenings, that could increase the overall percentage of those positive results of people who still continue with that pregnancy and increase the total number of terminations. So I guess all the numbers would be rising. Right. Also, the fact that people are giving birth later on average is increasing the rate of

Down syndrome pregnancies to begin with. Right. And that means that just by definition, more Down syndrome people are being born. So I think the number one factor is being able to take people with Down syndrome to the park now has just changed everything. Yeah. I mentioned money and there is, you know, if there are more medical complications on average, then there are going to be more medical costs on average.

And that is definitely something that people need to think about. I think among, there's one study among children between birth and age four that have private insurance, the average medical care costs were about 12 times higher if you had Down syndrome. And I think about 40% of families with a child with Down syndrome had a family member that stopped their job, that stopped working to care for them full time. And about 40% also said it caused financial strain on their family. Right.

And I mean, there's plenty of other challenges as well. One of the things about people with Down syndrome is that they age faster. Their bodies just age more quickly than people without Down syndrome. A statistic I saw is that a person aged 40 with Down syndrome, their body's probably about five years older than their peers in the general population. And then at 60, their body's about 20 years older than the average 60 year old in the general population. And then one of the things that I think really kind of looms like a dark cloud over the Down

syndrome community is that there's a really good chance that they will develop Alzheimer's probably better than a 50% chance. I saw an editorial in the Washington Post that said a 90% chance. Either way, it's a really good likelihood that they're going to develop Alzheimer's. It's a big problem in the Down syndrome community. Yeah. You sent me that stuff, but I didn't get a chance to look over the reasons why, but they've kind of think they've isolated why, right?

Yeah. So that 21st chromosome, right? They often have three copies of that. The third copy actually boosts production of what's called amyloid beta. And amyloid beta is one of the things that's responsible for the creation of plaques on the brain that leads to Alzheimer's. So is another substance called tau, and people with Down syndrome produce more of this stuff. So their brains age faster, so they develop Alzheimer's at a much younger age.

And they're much more likely to because they're overproducing these proteins that create the plaque. And then also in the Down syndrome population, Alzheimer's starts to present differently. It's not really memory loss or forgetfulness that's like an early sign. It's more, and this is very sad, reduced interest in being sociable, conversing or expressing thoughts and decreased enthusiasm for usual activities. Oh man, that's really sad. So there's a lot of people who are like, okay, well, we're starting to work on Alzheimer's

and testing new drugs. Obviously, we're going to include people with Down syndrome in those tests. And that is absolutely not true. As a matter of fact, there was a test that the FDA explicitly excluded people with Down syndrome from for testing an Alzheimer's drug. Yes. And so there's a real movement to start to include people with Down syndrome in these clinical trials.

And it seems to be starting to gain some traction, but it's just completely insensible to just exclude the group that I guess on average has the highest likelihood of developing Alzheimer's of any other human group around. Wow. Yeah. So it's funny when I was reading the stuff that Livia sent us, I was getting a little frustrated with like, this study says this, and we talked to parents that said this. And I was like, well, you know, has someone talked to people with Down syndrome and about

how they feel? And good news is Livia held it till the end, and they've done just that many times. In fact, there was, she found one study in 2011, and this is a kid's 12 and older with Down syndrome. And 99% of them said they were happy with their lives, 97% said they liked who they were, 96% said they like how they look, 99% said they love their family, and 86% said they can make friends easily. And then they asked it some sort of open-ended questions just to get like, you know, real

world answers. And you know, most of these kids did express some frustrations with their condition, but it was parts of their condition and not their lives and not like, this is, my life is just so frustrating. This is like, this one part of my life is frustrating. And obviously a lot of this stuff in high school and like in puberty, they found that there were more reports of kids being sad who had Down syndrome and not adjusting as well.

And you know, that's called puberty and being in high school. And it's probably especially rough if you have Down syndrome, but those are the changes that are going on with every kid. And so it may be a little more pronounced at that age. Yeah. And this, this is a really good study to skim. It's called self perceptions from people with Down syndrome. It was led by Brian Skodo from 2011.

It's available for free online. And it has just, it's just chock full of quotes from the study. And he even says that they conducted the study because so many people are being presented with all of the downsides of Down syndrome when they're told that their child has Down syndrome and do they want to keep the pregnancy. And he's like, we need to get other data that shows the full picture out there to people too. That's why he conducted this.

But it's a really great study to read. And one of the things that it kind of points out without overtly pointing out is that people with Down syndrome generally are aware that they have Down syndrome, that they're different in some way. And yet despite that, this study shows that they are way happier on this self reported study, granted, than the average person, 12 and older in the general population. Yeah. It's a really, and you know, I hate that we save this stuff to the end, but it's kind

of a nice way to leave things, I think. For sure. I want to shout out two other amazing, well, three other amazing people, well, four, five, five, but in three groups. You're always in there. One is Paul and Chris Charoon DeForge, I believe when Paul died, they both had Down syndrome, they both, they had been married for 25 years. Pretty amazing.

Wow. There was a woman named Lisa White, who was 50 back in 2016. She had Down syndrome. It still doesn't believe she's around. But one of the things that was so amazing about 2016 is that Lisa turned 50 and her son, Nick, who also has Down syndrome, turned 20. That is really rare in the community, but it also shows like this woman has Down syndrome and she raised a child, and she was living independently also.

Yeah. We can also shout out people like Sujit Desai, who was the first musician with Down syndrome to play at Carnegie Hall, who's played in all 50 states, 13 countries. If you saw the great movie, The Peanut Butter Falcon, really good movie. Isn't it? I haven't seen it. Yeah, it's really good. It has Shia LaBeouf in it.

But Zach Gotts again, I think his house pronounces the actor. He's been in a bunch of stuff, but Peanut Butter Falcon was certainly the highest profile movie. And it's a really, really good flick. Okay. I'm going to check it out. I mean, there's special Olympians who are on the national team, runway models, arguably the most famous person with Down syndrome, Chris Burke, who played Corky on Life Goes

On. What about Chris Burke? For sure. Chris Burke, who played Corky. Life Goes On was a very big show and a big deal as far as raising awareness. It seems like it just is sort of a trite thing to shout out the guy who played Corky. But that show was a game changer and not only with just Down syndrome, but just awareness and how people viewed a lot of different kinds of disabilities.

So he's worked with the National Down Syndrome Society for a long, long time and it's just a great ambassador for that group. And speaking of got a shout out, I also want to shout out Kayla McKeon, who manages grassroots advocacy for the National Down Syndrome Society. She also has Down syndrome herself. She was also the first registered lobbyist in America with Down syndrome. And we met her, Chuck, because she came to our Atlanta show. That's right.

I remember that. Where we had the National Down Syndrome Society come and then what was the name of that animal charity that you supported? Oh, the local one? Yeah. Lifeline. Lifeline. That's right.

That's what I was going to say. So Kayla is a very cool person and still at it from what I can tell. So shout out Kayla and everybody at the NDSS. That's right. Awesome. And then we have one more thing we just have to cover, Chuck. We can't not mention it. That article from I think New Scientist, there's a study that was carried out and it was just

among seven adult men with Down syndrome over six months, but they gave them pulses of gonadotropin releasing hormone, GNRH, and it improved their cognitive function 20 to 30 percent over six months. Wow. That's like going from 1,000 to 1,300 on the old school SAT that actually tested cognitive ability. Wow. Yeah.

So when you put it in that perspective, it's nuts, giving them one hormone, and again, that's what actually increases and gets triggered when puberty hits, which also coincides with the decline in cognitive ability among Down syndrome people. So they may have figured out something really big, not just for Down syndrome people, but for Alzheimer's as well. We got to shout out one more thing. Okay. Now we're running long.

Yeah. But our very own Jerry sent this to us, and although it's called Jerry's Habima Theater, H-A-B-I-M-A, it is not our Jerry's Theater, just strictly coincidence, and I didn't know about this. This is in Atlanta. It's on Tilly Mill Road, and it is a professional theater company of actors, and they all have special needs. Awesome.

And apparently there is a show that goes on, I think this is in March every year. It's coming up March 9th through 19th to save the date for Cinderella, and tickets go on sale in January, and this is an all-inclusive theater company that puts on these plays, and it looks like a wonderful thing. I think Jerry said that she had been, and it's like one of the most fun, best things, and as well as being supportive, but just a really fun thing to do. Awesome. Thanks for letting us know, Jerry.

I'm Jerry's Habima Theater. Okay. I'm out of stuff for now. I mean, we could pluck people all day, but I'm out of stuff, too. Okay. If you want to know more about Down Syndrome, that's really something that you should go out and learn more about, and while you're doing that, in the meantime, I say it's time for Listener Mail.

I'm going to call this a pretty quick follow-up from fundamentalism. It was released today, and as it happens, we start getting emails minutes after release — usually about 45 minutes after — although sometimes people jump the gun and email us during an episode. Hey, guys, thanks for the recent episode on fundamentalism. You put into words exactly what I've been going through for the past couple of years. I come from a very fundamentalist, Catholic family, and I've been dealing with all the joy that comes from expressing a different viewpoint.

My wife and I are both atheists, and this has been a point of contention with my family ever since we have decided to have a non-religious wedding. The tension has only increased since we have welcomed our daughter into the world and had to deal with my family's push to baptizer. The episode on fundamentalism is some very good points and definitely allowed me to look at the situation in a different light. The issue was closed-mindedness and not necessarily religion. Appreciate all you guys do.

All the best. That is from Jake. Awesome. Thank you for that. I can imagine at their wedding, someone said, God bless you too, and they were like, get out. You know, I'll take a God bless you, I don't mind it. When you sneeze or any time?

Any time. If someone, I don't know, if my grocery store checker outer just says, God bless you, have a blessed day. I just say, you know what, thanks very much, because that's a kindness that they're bestowing upon me in their own way. Oh yeah, I'm like, you've never heard of separation of church and publics? You're fired. Because you're smashing a sheet cake into your mouth.

That's exactly right, because those things don't make it out the door. Well, thanks a lot for sending us that email, Jake. If you want to be like Jake, then you can send us an email too, stuffpodcastatihartradio.com. Stuff you should know is a production of iHeartRadio. For more podcasts on my heart radio, visit the iHeartRadio app, Apple podcasts, or wherever you listen to your favorite shows. I'm Munga Chauticular, and it turns out astrology is way more widespread than any of us want to believe.

You can find it in Major League Baseball, international banks, K-pop groups, even the White House. But just when I thought I had a handle on this subject, something completely unbelievable happened to me, and my whole view on astrology changed. Whether you're a skeptic or a believer, give me a few minutes, because I think your ideas are about to change too. Listen to Skyline Drive on the iHeart Radio app, Apple podcasts, or wherever you get your podcasts.