What is Down syndrome?  - podcast episode cover

What is Down syndrome?

Jan 21, 202527 min
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Episode description

You may have heard of Down syndrome, but what is it exactly? In this episode, we'll break down the science of chromosomes and how having an extra one leads to this fairly common condition. Plus, we'll learn some tips for making friends with someone who might seem different than you. We'll also swing by a farm staffed by ranchers with Down syndrome. And in our Moment of Um we'll find out why eggs go from clear to white when cooked.

Transcript

Hi friends. This week we're playing one of our favorite episodes from the past. It's one we put a lot of heart and effort into and it's one we still think about a lot. The episode is about Down syndrome and you'll learn about chromosomes, visit a ranch, and of course get to guess a sneaky mystery sound. Okay, on with the show. You're listening to Brains On, where we're serious about being curious. Brains On is supported in part by a grant from the National Science Foundation.

Meet Peter, Max, and Noah. Well, we're buddies. These pals are all about the same age. They go to the same school in New Haven, Vermont. They like a lot of the same things, like reading, playing ball, and of course... He likes pizza and I like pizza. Noah, do you like pizza? Oh, yeah. Pizza. Agreed. Pizza is life. Max says they have their differences, too.

Noah likes asparagus and I do not. Do you like asparagus? We like asparagus. Really? Another difference is that I do not like chicken and Noah does. So they probably shouldn't order an asparagus chicken pizza, but that's not really going to get in the way of their friendship.

If we were exactly the same as our friends, that would be kind of boring. Differences offer surprises and let us learn about things we might never even know existed or didn't think were that cool in the first place. Some differences come from the place you grew up in, like the language you speak or your favorite baseball team. Go Twins! Other differences, like your hair or eye color, are biological. They come from your body, your cells and your chromosomes.

Chromosomes are part of your cells, and they hold the blueprints, the DNA that makes you, you. One difference between Peter, Noah, and Max is that Max, like most people, has 46 chromosomes in his cells. Peter and Noah's cells have 47. I have an extra chromosome. That extra chromosome means that Peter and Noah have Down syndrome. For Peter, it's just another thing that makes him, him. Yeah, and they like Down syndrome.

I think it's cool. For Max, meeting someone with Down syndrome made him curious. When Noah came into the school, that just made me want to know the answer to this question. What causes Down syndrome? And so I sent the question into Brains On. We'll be answering that today. Keep listening.

This is Brains On from American Public Media. I'm Molly Bloom. Here to help me answer Max's question about Down syndrome is 12-year-old Ezra and 10-year-old Fiona from St. Paul, Minnesota. Hello. Hello. Hi. So you guys are siblings. Yes, I'm a sibling. It's my brother. Do you always get along? No. Yeah. No. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. Yeah. So Fiona says you always get along. That's not true. Ezra begs to differ. It's me, brother.

So you both like to do sports? Yeah. So what is your favorite sport, Ezra? Baseball. What is your favorite sport, Fiona? Swimming, biking, running, and horses. And horses. And Fiona, this is a question for you. Is Ezra a good brother? Yeah. My brother loves playing baseball, so cool and handsome, and just like me. Awesome. And Ezra? Do you think Fiona's a good sister? Yeah, she's really creative and fun. Well, let's get to Max's question. What causes Down syndrome people down in the room at all?

Unique. But sometimes they have similar traits due to their extra chromosome. For instance, they may have similar shaped eyes, or they might have a larger space between their first or second toes. It's also common for people with Down syndrome, or DS, to have heart issues and challenges with memory and learning. This can sometimes slow their development. But having Down syndrome doesn't define who a person is. I still have you now.

She just happens to have Down syndrome, just like I happen to have brown hair. Down syndrome is named after John Langdon Down, a British doctor who first described the condition way back in 1866. It wasn't until almost 100 years later, in the late 1950s, that scientists figured out it was caused by an extra chromosome. That word's come up a lot so far. Chromosome? What is?

Here to fill us in is producer Mark Sanchez. Let's take out our handy-dandy zoom ray here and zoom right in. Weigh in to our cells. Cells are those little units that make up our bodies. And our bodies are made up of a practically unimaginable number of them. Many, many trillions of cells.

In fact, there are more cells in just your body than there are people on Earth. There are a lot of cells. Now let's take one of those cells and zoom in again. In the middle of that cell is a nucleus. Now zoom in again. Inside that nucleus are chromosomes, 46 to be exact, 23 from one biological parent, and matching 23 from the other.

Now, let's zoom in one more time on a single chromosome. Each chromosome is made up of one DNA molecule and a bunch of proteins called histones. Now, DNA is the blueprint for everything in your body. It tells the cells in your body what to become and what to do. DNA molecules themselves are really cool looking.

Each DNA molecule is shaped like a long, skinny double helix. Picture a ladder that twists from one end to the other. So instead of going straight up, it kind of spirals from top to bottom. DNA strands are so long and skinny, they wouldn't fit inside the cell without being part of a chromosome. In a chromosome, these DNA molecules wrap around the proteins like a thread wraps around a spool. It's a neat space-saving trick.

Scientists are hard at work trying to figure out what all the different sections of DNA do. These sections are called genes. Right now, for example, we know that two of the genes that affect eye color are located on chromosome 15. The gene that controls if you're lactose intolerant is on chromosome 2. Scientists still have a lot left to learn about chromosomes and DNA and genes. So for now, I think it's time to zoom back out to Fiona, Ezra, and Molly in the studio.

So we know that people with Down syndrome have an extra copy of the 21st chromosome, which is why it's sometimes called trisomy 21. Try for three, like a three-wheeled tricycle. Oh, why so tough? But how does an extra chromosome lead to Down syndrome? To find out, we talked to Dr. Brian Skatko. One of his sisters has Down syndrome, and that inspired him to work in a field where he could help people like her. Now he's a doctor and the co-director of the Down syndrome program at Massachusetts General Hospital.

Is there an easy way to explain Down syndrome to my friends? I heard from one sibling who has a brother or sister with Down syndrome that she explained Down syndrome like baking a cake. If you look at the recipe for most cakes, it involves two eggs. Yes, you throw the milk in there, you throw the batter in there, you mix it together, and you have a great cake. But let's say we threw an extra egg in the recipe. It would still turn out to be a cake. Yes, maybe a little fluffier, but it would still be a cake.

People with Down syndrome have an extra ingredient. They have an extra chromosome. They have that extra egg. And that turns out to be wonderful humans, wonderful brothers and sisters, wonderful sons and daughters. But they also have an extra ingredient that makes the composition of who they are sometimes a little bit different. So my sister, she doesn't see herself different than anybody else. Do people with Down syndrome really realize that they have Down syndrome?

Many people with Down syndrome understand what the condition is, and some people don't necessarily fully grasp it. It really depends on the age of the person and also their development. But what's important is that everyone with Down syndrome realize that they're important, that they're special, and that they value to their families and to their communities.

How does having an extra chromosome lead to Down syndrome? By having an extra copy of chromosome 21, the body has extra genetic material, and that's what causes Down syndrome. Some people might say, well, isn't extra chromosomes good? Having extra genes, that must be a good idea. And actually, there are many advantages to having an extra copy of chromosome 21. People with Down syndrome almost rarely get breast cancer, almost rarely get solid tumors.

So having those extra genes from extra chromosome 21 helps fight cancers. But we also know having those extra genes sometimes can confuse different parts of the body and can lead to health challenges. Chromosomes are really the blueprints for our body. And when you have an extra set of instructions, that could either work to your advantage or it could confuse some of the cellular biology.

And that really depends on every organ, which chromosomes they tap, which blueprints they rely on, and how often they rely on those throughout one's life. So why is it that different people who have Down syndrome might have totally different medical conditions that occur with it? Some people have heart conditions, some people don't. Why is it so different? We know that everyone with Down syndrome has extra chromosomal material from chromosome 21.

But people with Down syndrome are so varied, not only in their personalities, but in the medical conditions that they get or they don't get. Why is that? It eludes scientists right now. So researchers and scientists are trying to unravel what causes certain conditions in some people, but not others. So stay tuned for good research coming down the pike. So Ezra, did anything stand out to you from talking to Dr. Scott Goh?

Yeah, like, a simple way to describe Down syndrome is, like, a cake. Like, you usually use two eggs, but sometimes you can use three. Like, it's still going to be a cake, but it might just be a little fluffier. Yeah, that's a really good way to describe it. So now we have a picture of what Down syndrome is and how it works. But Max had another question, too. Is there any way to, like, fix someone who already has it?

To answer that, we spoke with Linda Smarto from the National Association for Down Syndrome. Can you fix a chromosomal abnormality? The answer is no. They're working on that to maybe try to discover ways to fix this when the baby is in utero, meaning within the womb. But as of now, there is no way.

And from a parent's perspective, since my daughter has Down syndrome, if you were to ask me 23 years later, as my daughter is 23 years old, if I would want to change anything about my daughter, the answer would be no.

I would like to look at it more as assisting an individual with Down syndrome. So let's think about what are the best ways in which we can assist somebody with Down syndrome. Providing them with a lot of support, with a lot of friendship, helping an individual with Down syndrome, and letting them soar to their full potential. Not to put any limitations on anybody, especially those who have that extra chromosome.

Okay, before we go any further, we need to do something very important. We need to hear the mystery sound. Mystery sound. Yes. Okay, so here it is, guys. Ready? Sounds like a pig eating. Oh, a pig eating. That's a good guess. Fiona, what is your guess? Cow eat a hay.

Cowie and Hay, those are both really good guesses. We will be back with the answer in just a little bit. We're making an episode all about Jupiter, the biggest planet in our solar system. And it got us wondering, if planets had personalities, what would they be like? And what would their nicknames be? Maybe Jupiter would be super tough and go by Jupiger. Or Mercury would be tiny and spunky and go by Mini Merc.

Think of your planet nickname and send it to us at brainson.org slash contact. Questions, drawings, and high five are what fuels our show. We love and appreciate everything you send in. If you want to get in touch, head to brainson.org slash contact. You can send us your questions like this one from Lilo. One morning when my mom was making me breakfast, I was wondering why the eggs were turning from clear to white when they were cooked.

You can find an answer to this question on our Moment of Om podcast. It's a dose of facts and fun every weekday. Just search for Moment of Om wherever you listen to Brains On. Brains On Universe is a family of podcasts for kids and their adults. Since you're a fan of Brains On, we know you'll love the other shows in our universe. Come on, let's explore.

Brains on! I'm their biggest fan! I also love Smash Boom Best, a fun debate podcast for kids and families. Listen, I will play you Smash Boom Best. You will love! To refresh your memory, the ugly duckling goes like this. A bunch of duck eggs hatch, and the cute little ducklings go quack, quack, quack.

Mother Duck is super happy with her eggs when crack, the last one explodes, and out comes a... Zorp! Where did the signal go? Must find Smash Boom Best now! Listen to Smash Boom Best wherever you get your podcasts. Today on Brains On, we're talking about Down syndrome. I'm in the studio with siblings Ezra and Fiona. Hi, guys. Hi. Hi.

One thing we typically see in people with Down syndrome is something called muscle hypotonia. It means having low muscle tone. This can make it harder for some people with Down syndrome to control their muscles and do complicated movements quickly. It can even affect mouth muscles, making it harder to speak, which is why some people go to speech therapy. Fiona, you go to therapy, right? Yeah. What is your therapist's name?

And Sarah. My name is Sarah, Sarah Bowman, and I'm a speech pathologist. Can you tell me cheeseburger? Cheeseburger. We are targeting some specific speech sounds, such as the ch and sh. All right. Ch. Yeah. Ch and sh. And consonant blends, S blends, like in the word snake or spot.

or star to help her overall speech clarity. So she helps you? Yeah. Polar bears? Yeah. Oh, can you say polar? Polar bear. Well, when we're working on a specific sound, first we'll work on producing that sound in isolation and then the word level in phrases and then in conversation. Now that we've talked about talking, let's switch to listening. Here's that mystery sound again. Final guesses? Same thing. Same thing. Sticking with a cow eating and you're sticking with a pig.

Okay, so we have a farm theme. So here is the answer. So you guys were really close. You both guessed farm animals eating, and it was a mini horse eating. A horse? Yeah. A horsey? No, Fiona, I'm guessing you've seen a horse eat before. Oh, yeah. Because you ride horses, right? Yeah. My horse is named Casey. Your horse is named Casey? Yes.

It's a boy. Casey has got good, awesome horse. What do you do when you ride the horse? Do you go fast? Do you go slow? So fast. You go really fast? Yeah. So that horse from the Mystery Sound lives in Texas, near Austin, at a farm called the Down Home Ranch. It's a place where lots of people with Down syndrome live and work with animals. Our producer, Sandin Totten, joined them for their morning chores. My name is Khalir. I take care of...

farm animals. So what's the first chore? We're going inside and we scoop their poo and after that we lay out hay. My grandfather was raised on the ranch, too. Well, my favorite thing is to ride horses. But the least thing is how heavy the hay is. That's my least favorite. What's next? What chore's next? Cattle. I'm Naomi, and I work with the ranchers here helping take care of the animals. They're spreading out the cow cubes for the cows to eat on the grass.

The ranchers that we have, you know, they're not interested in the city life. They love being out in the country. They like the freedom. They like the starry nights, you know, campfires, and they like animals. So cute. There's a lot of people that might not want to interact with others, but you get them with an animal, and they'll interact with the animal or talk to them. They really open up. Hold on, baby.

Calm down. The next step is a chicken. Okay, let's do it. Oh, okay. I've been practicing my chicken call. You guys want to hear it? I can do my Worcester. And the Worcester goes... That was pretty good. It takes patience with the animals.

to stay calm and give them space if they're wild. If you're going to be a rancher, it's passion. It's love. It's a part of your blood. Fiona, do you think you'd want to live on a ranch one day? Yeah. What do you want to do when you grow up? I'll be a hairstylist. Oh, a hairstylist? Yes. What should my hair be like? You'd be as brown as...

Red. Well, I should get brownish red hair. Yeah. I like it. What about you? What do you want to do when you grow up? I want to be a physical therapist. What inspired you to want to do physical therapy? Anything particular? When I broke my elbow, I do, like, occupational therapy. How did you break your elbow? I fell off the monkey bars when I was, like, six. Well, I'm glad to see your arm is all better now. And getting your dream job can be tough for anybody. But people with conditions like Down syndrome are often told they can't do certain things, which can make chasing a dream even harder.

Thankfully, there are people like Annie Dufresne out there giving lots of encouragement. She has Down syndrome too. I'm a program aide at Wing Lake Center. Wing Lake Developmental Center is a place for people with severe developmental disabilities. Students anywhere from age 3 to 26 learn and practice life skills. One of her favorite parts of the job is helping students with something called occupational therapy or OT.

Together, they practice everyday skills students might have trouble with on their own. Like today is Wednesday, so Wednesday is occupational therapy. They do a lot of fine motor skills, which is mostly hands-on. Like today, the students make pumpkins, and we make pumpkin faces. Sometimes we make brownies. A number of times we make jello.

Annie says a lot of the students have trouble with the activities on their own, but with a little help, they get it done just fine. If they're really struggling, Annie will bust out a confidence-boosting pep talk. I probably will say, I believe in you. You can do it. You can try again. I think one of the skills that I teach people for getting their job is probably being positive, believing in their goals in life and being able to achieve them.

and how to be kind and patient to other people. Never give up on anything. Once you put your mind into it, you will succeed in everything you do.

That was 30-year-old Annie Dufresne. She spreads her words of wisdom in Bloomfield Hills, Michigan. She also had this advice for people meeting someone new with Down syndrome. I wish people could be more understanding and patient to communicate face-to-face, also slowing down what they're trying to say so I can hear them. Being patient and slowing down your speech. That's good advice.

Fiona and Ezra, do you have any advice for when we meet someone with Down syndrome? Like talk slow, but like, I mean, like don't go fast, but like don't talk down to them either. That's really good advice. So I think sometimes people meet someone with Down syndrome and they notice that they look or talk different and they're not quite sure what to do. And instead of trying to figure it out, they might just ignore them. Have you seen that happen before? Yeah.

So what do you think they should do instead of just ignoring the person? Go up and say hi. I mean, they're no different than anybody else. Say hi. So hi. See if they want to play. Having an extra chromosome is just one trait of many. You might think someone with Down syndrome is really different from you, but you both might like Shopkins or horses. And we all know some of the best friendships are founded on... Pizza!

But maybe not with chicken and asparagus. Down syndrome is a condition where a person has an extra chromosome. That can result in many different characteristics. For no two people, Down syndrome are the same.

People with Down syndrome may need extra help sometimes, but that doesn't mean they can't achieve big things. If you meet someone with Down syndrome, or any difference really, don't be afraid to reach out and get to know them. You might make new friends. That's it for this episode of Brains On. Brains On is produced by Molly Bloom, Mark Sanchez,

and Sandin Totten. Special thanks to Shelly and Joanna Harris, Laura Goodfellow, Christine Downey, Megan Rice and Beeman Elementary School in Vermont, Sandra Baker and the Down Syndrome Association of Los Angeles, Tracy Haffman with the Down Syndrome Association of Minnesota, Travis Kyle, and everyone else at the Down Home Ranch. We had production of John Lambert, Emily Allen, Marcus Arsvold, John Kalish, and Lauren Dee.

Now it's time for the brain's honor roll. These are the incredible kids who keep the show going with their questions, ideas, mystery sounds, drawings, and high fives.

Hania from Karachi, Butterfly from Oakland, California, Molly from Dallas, Texas, Ellie Rose and Everly from Ridgeville, South Carolina, George from Arlington, Virginia, Nicholas and Roman from Corona, California, Delany from Pembroke, Ontario, Emily and Chelsea from Chattanooga, Tennessee, Jocelyn from Moncton, New Brunswick, Zeb from Milwaukee, Sophie from Philadelphia, Lauren from Atlanta, Rishi from Amsterdam, Shalev from Cambridge, Massachusetts, Arlo from Newton, Massachusetts, Celeste and Lorelei from Austin, Texas, Oliver from Wellesley, Massachusetts, Jack from Brainerd, Minnesota, Henry from King Cardine, Ontario, Penelope,

and Josie from Big Sur, California. Ella from Denton, Texas. Imogen from Victoria, British Columbia. Rowan, Quinny, and Kieran from Virginia. Eliana from Greensburg, Pennsylvania. Alessandra from San Antonio, Texas. Francie from Milton, Massachusetts. Bo from River Falls, Wisconsin. Henry and Ada from North Carolina. Harry from Rochester, New York. Kaya and Ellie from Fort Collins, Colorado. Hazel from Manassas, Virginia. River, Reed, and Ridge from Marion, Illinois. Maddox from Virginia. Nisa from Durham, North Carolina. Jackson from Laramie, Wyoming. Madeline from Louisville, Kentucky. Liam and Eva.

from Denver, Rome from Oakland, California, Calder from Charlotte, North Carolina, Maddie from Merrillville, Tennessee, Sloan from Calgary, Alberta, Aaron and Audrey from Los Angeles, Kylan and Rosetta from Vancouver, Ashlyn from Edmonton, Alberta, Ido, Omri and Itai from Santa Clara, California, Arlo from Camas, Washington, Della from Farmington, New Mexico, Johnny and Danny from California, Forrest from Tosin, Maryland, Elias from Massachusetts, Owen from Nottingham, Maryland, Oliver and Esme from Portland, Oregon, James and Jack from Saginaw, Texas, Oscar and Lila from Grand Forks, British Columbia, and Noriko.

from Hamilton, Ontario. We'll be back soon with more answers to your questions. Thanks for listening.

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