March 21st is World Down Syndrome Day. A day to recognize and spread awareness of those with Down syndrome.

THIS EPISODE IS PART 1 OF 2 EPISODES: MAKE SURE TO LISTEN TO THE EPISODE: A MOTHER’S MESSAGE-DOWN SYNDROME AWARENESS.

In honor of this, I welcome Dr. Sajel Lala (@Lalagenetics on Instagram). We discuss Down syndrome statistics, risk factors, how the diagnosis can be made, what is monitored through the child’s life, and some misconceptions about those with Down syndrome.

00;00;08;19 – 00;00;24;08

Dr. Mona

Welcome to this episode. I am now welcoming Doctor Sejal Lala, who is a geneticist, and we’re going to be talking more about the data and more about the management of children with trisomy 21. So thank you so much for joining me, doctor Lala.

 

00;00;24;10 – 00;00;32;09

Dr. Sajel Lala

Thanks for having me. This is so exciting and so nice to be able to talk to you today about something that I see really commonly.

 

00;00;32;09 – 00;00;50;26

Dr. Mona

So thank you so much. I’m so happy we were able to connect through Instagram. And sage is actually on Instagram at Lala Genetics. She is going to be building that platform and using this as a way of hopefully building that more, but we’re just so excited to have her and share her expertise. So tell me more about what you do as a geneticist.

 

00;00;50;28 – 00;01;22;10

Dr. Sajel Lala

Yeah. Of course. And that’s a very good question because not many people know even when they’re in my office. So geneticists do pretty much anything. They’re kind of like abnormal physicians, like they’re abnormal pediatricians. They’re abnormal internal medicine specialist. Anything that deviates from expected development or expected progression of milestones or expected disease pathology, frankly, it warrants a genetic evaluation.

 

00;01;22;10 – 00;01;47;10

Dr. Sajel Lala

I mean, pretty much anything that doesn’t go as we expect that it would. And, you know, and that testing is just getting better, more and more intricate. And, you know, we are just able to obtain so much information from doing genetic testing that it is valuable in so many individuals.

 

00;01;47;12 – 00;02;09;17

Dr. Mona

Well, I want to have you back on again to talk about genetic testing. I’m sure we can talk about that in so much detail, because, yes, I have families who want genetic testing when maybe it’s not warranted. And then obviously sometimes it is warranted. So I think a whole episode in the future about when genetic testing may be warranted, or maybe a visit to, geneticist may be warranted would be a really good topic.

 

00;02;09;24 – 00;02;13;09

Dr. Sajel Lala

I think that’s a great idea. I would love to do that.

 

00;02;13;12 – 00;02;35;15

Dr. Mona

And then today we chose to talk about trisomy 21. And again, that’s, trisomy 21 is what the medical community and, you know, Doctor Lollar was explaining to me before we started, is trying to remove the names associated with certain syndromes. So instead of Down’s syndrome, we’re now trying to talk about it as trisomy 21. And she’s going to explain more about why that’s called trisomy 21.

 

00;02;35;15 – 00;02;41;27

Dr. Mona

So tell me briefly what like an overview of the statistics and why it’s called trisomy 21.

 

00;02;42;01 – 00;03;10;18

Dr. Sajel Lala

Also a great question. It’s called trisomy 21 because what trisomy 21 is, is an extra chromosome number 21. And normally we have two copies of every chromosome. We get one set from our moms and one set from our dads. And in the case of trisomy 21, most commonly, what happens is in the OVA or in moms eggs, there’s abnormal cell division.

 

00;03;10;18 – 00;03;41;09

Dr. Sajel Lala

And so the eggs just happen to have an extra number 21 with it. And then when combined with a sperm with one chromosome 21, then the resultant embryo ends up having three of those copy numbers of chromosome 21. And down syndrome or trisomy 21 overall results in systemic developmental and physical changes and intellectual disability. It is the most common genetic chromosomal disorder.

 

00;03;41;09 – 00;04;09;07

Dr. Sajel Lala

It’s found in about 6000 live births per year. And so this prevalence actually has been increasing over the last 3 to 4 decades. And the life expectancy of individuals with Down’s syndrome has also been increasing since its discovery in the early 1900s. And so back when it was first known, the life expectancy was around ten years of age or low teens.

 

00;04;09;07 – 00;04;15;24

Dr. Sajel Lala

And now we see individuals living well into their 40s and 50s and so and even older than that.

 

00;04;16;01 – 00;04;21;10

Dr. Mona

And what do you think the reason is for why the life expectancy has increased. And that’s awesome.

 

00;04;21;10 – 00;04;39;17

Dr. Sajel Lala

Awareness. And also prevention and surveillance, which, you know, we’ll go into definitely more into the surveillance of transmit 21 and the types of things that specialists and primary providers do look out for.

 

00;04;39;23 – 00;04;46;27

Dr. Mona

And are there certain risk factors that we know of that can maybe, you know, put a couple at risk of having a child with trisomy 21?

 

00;04;47;00 – 00;05;16;20

Dr. Sajel Lala

There are, some risk factors that we know of. And the most common one is advanced maternal age. So moms being 35 years and older, however, it’s important to know that most children with down syndrome are born to women under the age of 35 because younger women are generally having more babies. And so just as a population, how many children are born to younger women?

 

00;05;16;20 – 00;05;43;28

Dr. Sajel Lala

Because of that, we see more more trisomy 21 in younger women. And then another risk factor that we know of is if either parent is a carrier of what we call it, translocation, or a rearrangement of chromosomes involving the number 21 chromosome. And so when you pass on genetic information in a sperm or an egg, you’re passing on 50% of your DNA.

 

00;05;43;28 – 00;06;23;09

Dr. Sajel Lala

Theoretically and if that DNA is not arranged the way that it’s supposed to, when you pass on half of your DNA, you may pass on extra missing information because of that. And that can also lead to having a child with trisomy 21. And then we know that having had one child with trisomy 21 would slightly increase your risk of having another one with trisomy 21, because there may be a reason why it happened in the first place that would predispose someone to having it happen again.

 

00;06;23;11 – 00;06;25;23

Dr. Mona

And what are the ways it can be diagnosed?

 

00;06;25;25 – 00;07;10;24

Dr. Sajel Lala

So this, trisomy 21 can be diagnosed prenatally and postnatal, prenatally. There are different types of tests. There’s noninvasive prenatal screening or testing, which is a maternal blood test. And that can detect, an extra number, 21 chromosome from the fetus, in mom’s blood. This is pretty accurate. And so that is typically followed up by invasive diagnostic testing, which is looking at either the chorionic Phyllis Democratic fil A sampling at 10 to 12 weeks of gestation, or an amniocentesis after 14 weeks of gestation.

 

00;07;10;24 – 00;07;41;16

Dr. Sajel Lala

Looking at the chromosomes of the fetal material, postnatal leave, the ability to do genetic testing on the patient themselves is much easier. It’s as simple as doing, blood test or even in some cases, a cheek swab or any tissue really, where DNA can be extracted is useful for chromosome studies, but the easiest is usually blood or a cheek swab or saliva.

 

00;07;41;19 – 00;07;44;28

Dr. Sajel Lala

And that can also pick up trisomy 21.

 

00;07;45;00 – 00;07;54;09

Dr. Mona

And of course there is testing. But children with trisomy 21 also have some physical features that are very common to those with trisomy 21. What are some of those?

 

00;07;54;11 – 00;08;25;08

Dr. Sajel Lala

When we see babies after they’re born and are doing physical exams on them, or even individuals that we haven’t seen before that come to clinic for evaluations for suspected trisomy 21, and in the days before genetic testing that was so easily done. This was a clinical diagnosis that was made. And they have a typical facial gestalt with what we call it bechamel folds and slanted, palpable fissures.

 

00;08;25;08 – 00;08;53;27

Dr. Sajel Lala

So that’s the shape and the position of the eyes. They have low muscle tone that they have. They typically have some what we call normal are flattening. So now hypoplasia which is the mid phase is not as prominent as otherwise seen in individuals who don’t have trisomy 21. We can also see what we call brush filled spots on their iris.

 

00;08;53;27 – 00;09;18;03

Dr. Sajel Lala

That’s a path. The mnemonic, almost a path of mnemonic finding. We don’t really see that in other things. And then they have a distinct appearance to their feet with, wide gap between their first and second toes in a lot of cases, and can also have differences in the creases of their hands. And so a single Crisco across their palms.

 

00;09;18;03 – 00;09;30;15

Dr. Sajel Lala

And this we see in other genetic conditions as well. It’s pretty nonspecific. It just indicates hypertonic or low muscle tone. When the baby was in utero.

 

00;09;30;18 – 00;09;42;19

Dr. Mona

And you mentioned that a lot of the outcomes, in terms of life expectancy has increased. And a lot of that is because of just better monitoring, diagnosis. And then, what are some of the things that we’re monitoring through the child’s life?

 

00;09;42;22 – 00;10;11;24

Dr. Sajel Lala

And that’s also such an important question. So surveillance for 2021 is grouped pretty much by stages in infancy. It’s important to monitor for, different things that can be associated with trisomy 21, such as heart defects within echocardiogram and cardiology evaluation, cataracts, feeding difficulties because of this, low muscle tone also constipation because of low muscle tone.

 

00;10;11;24 – 00;10;39;02

Dr. Sajel Lala

Looking at blood cell count to make sure that the red blood cells or white blood cells are not too high or too low. Decreased thyroid function, which is, something that individuals with trans May 21st or an increased risk for hearing loss. Also, something to note. It’s really important to always be careful with their neck, because they can have spinal instability.

 

00;10;39;02 – 00;11;11;18

Dr. Sajel Lala

And just to be very mindful, contact sports and trampolines and all the fun stuff as they get older. So and then later on in life, it’s important to monitor for celiac disease leukemias, anemia, still, hypothyroidism, sleep apnea, vision issues, behavior issues. It’s very important to optimize their diet and their exercise because this can help with some of these things that are, monitored for.

 

00;11;11;22 – 00;11;30;20

Dr. Sajel Lala

And it is so important to partake in early intervention therapies. And for the child to be in a school setting that accommodates their needs, through something like an IEP or a special classroom or, you know, special circumstances and attention if they need that.

 

00;11;30;22 – 00;11;43;15

Dr. Mona

And do you find that families who have children with trust me, 21 do they usually use the child’s pediatrician as their primary doctor, or do they actually use the geneticist because of all the things that are being monitored?

 

00;11;43;18 – 00;12;12;19

Dr. Sajel Lala

So I think that different places do it different ways since it is so common. Most general pediatricians do feel comfortable managing them on their own and sending to specialists for maybe initial evaluations, or if they have concerns regarding specific organ systems. Some may, refer just because they feel uncomfortable with managing certain aspects of, of the trisomy 21 itself.

 

00;12;12;22 – 00;12;23;18

Dr. Sajel Lala

But I find that for me, 21 mostly the pediatrician is doing their monitoring and referring as needed.

 

00;12;23;20 – 00;12;42;00

Dr. Mona

Yeah, I have, a handful of patients with trisomy 21, and I’ve been practicing at my current practice for about two years now, and, yeah, we we manage it at our office, like you said, but you said it perfectly that it just depends on where you’re located in terms of what’s going to be best depending, you know, rural city, it can just depend.

 

00;12;42;00 – 00;13;06;11

Dr. Mona

But you obviously want to have someone who is able to monitor, like Sage Hill said, all the things that need to be monitored in terms of in the future, thyroid and leukemias and celiac disease. And just obviously early on, with the tone and all the therapies that may need to be, coordinated. So it’s important to have a medical home wherever you decide that’s going to be, so that they can help you coordinate all of those things, which obviously is a huge benefit for that child.

 

00;13;06;25 – 00;13;09;07

Dr. Mona

For great outcomes and better outcomes.

 

00;13;09;10 – 00;13;30;08

Dr. Sajel Lala

I agree, and it’s completely appropriate to refer to a specialist for evaluations that, you know, general pediatricians or family medicine, primary care or whatever primary care that they’re seeing. If they don’t feel comfortable, it’s no one is going to be upset about having that referral.

 

00;13;30;10 – 00;13;42;11

Dr. Mona

So I’m curious for you in your practice, I know it can vary geneticist to geneticist, but are most of your families with me 21 coming to you because they want the extra guidance or their pediatrician sent them to you?

 

00;13;42;13 – 00;14;20;20

Dr. Sajel Lala

We see a little bit of both now. Trust me, 21 is one of the least frequent visitors that I have to my clinic. I don’t see too many of them, and I think that’s because the community does a very good job of managing these individuals and also counseling these individual calls right from the get go. And so when I do get children or adults with trisomy 21 of my clinic, they are usually looking for clarification on, management for something or may want other testing.

 

00;14;20;20 – 00;14;40;29

Dr. Sajel Lala

Now trisomy 21 is one of those genetic conditions that often does not often, but can come with other genetic diagnoses as well. And so we see that a lot where, the trisomy 20 ones in my clinic usually also have something else. So it is a spectrum.

 

00;14;41;01 – 00;15;04;07

Dr. Mona

And I’m releasing this episode as well as episode 57, in honor of World Down’s Syndrome Day, which is March 21st, and it’s March 21st because March is three and then 21st 21. So trisomy 21, so my goal for these episodes was really to promote awareness and education about what trisomy 21 or Down’s syndrome is. What would you say is a misconception you think people have about trisomy 21?

 

00;15;04;12 – 00;15;32;13

Dr. Sajel Lala

It’s not really a misconception, but something very important to recognize is that it is a spectrum. Each person with down syndrome is unique and they will have varying degrees of concern with different things that may be going on with them or what isn’t going on with them. And so it is so important to still care for them as they’re concerns come up and not just based on what the guidelines say.

 

00;15;33;05 – 00;15;55;02

Dr. Sajel Lala

And, you know, no one really fits the book all the time. And so and rarely do they meet every criteria that we read about. And so it is so important to keep an open mind and accept that there may be different things that need the attention of a specialist or, primary care provider for these patients.

 

00;15;55;05 – 00;15;59;20

Dr. Mona

That’s great. And what would be a final message for everyone listening today?

 

00;15;59;22 – 00;16;31;07

Dr. Sajel Lala

Yeah. So my final message to everyone listening is something I tell my families every day. We cannot, cannot, cannot predict the developmental path of any child or any adult. It’s our job as educators and caregivers and providers, to give them whatever we can to help them thrive from the inside out, and then we leave it up to them to show us where, where that leads and where we may be doing more for them to allow them to do more for themselves.

 

00;16;31;13 – 00;16;52;01

Dr. Mona

You said that beautifully. You know, my final message is that we need to know these things, because it’s important to get the interventions that are necessary, whether that’s monitoring for medical issues, whether that’s services like OT speech. All of these things provide the best possible outcome for that child. And that’s our goal with any child. We don’t look at it, compare it to another child.

 

00;16;52;02 – 00;17;02;29

Dr. Mona

We don’t look at it, compare it to another family. It’s really that goal for that child that we look at in any child that comes into our office as a pediatrician, geneticist. And so I know you can agree with that.

 

00;17;03;02 – 00;17;31;25

Dr. Sajel Lala

Yes. And, you know, and I think that you said that beautifully, because it is so important to let these children surprise us because they will, you know, and if I placed a bet on how a child would do, I would lose every time because they exceed my expectations always, you know? And so it really is wonderful to watch them blossom and just to be there to support them.

 

00;17;31;25 – 00;17;32;28

Dr. Sajel Lala

How best we can.

 

00;17;33;02 – 00;17;47;16

Dr. Mona

And Abby mentioned that in the other episode that she talked about how, you know, with that diagnosis, so many things that she thought would be a little bit more long term. Such an example that you gave earlier, like heart conditions that can be associated with down syndrome for her family in particular, that is something that is actually getting better.

 

00;17;47;16 – 00;18;04;29

Dr. Mona

And so she shared how she was so excited. And when you think about all the statistics and numbers, it could get really hard, right? Like, I didn’t really ask you all that well because I didn’t want to go into, well, what is the percentage of outcome as a mother who had a child with an infant stroke, I went through that rabbit hole, you know, like, okay, well, what about this?

 

00;18;04;29 – 00;18;20;16

Dr. Mona

What’s the percentage that he’s going to have this outcome or this neurological devastation? It was it was awful because I’m such a scientific mind that I kept wanting to know, well, what is the chances? And many times we just have to go by. Okay, this is the child in front of me. I got to have some hope here.

 

00;18;20;16 – 00;18;36;14

Dr. Mona

And really, just like we said earlier, invest in the development for that child and just hope for the best. We don’t. It’s hard because for me also being very type I, you want to control so many things and you realize that you know what, I can’t and I just got to do the best I can with this child.

 

00;18;36;14 – 00;18;38;19

Dr. Mona

And it is going to be the best for your family.

 

00;18;38;26 – 00;19;06;00

Dr. Sajel Lala

Exactly. And you know, and another thing I also tell families, because they do come in with numbers and they are so interested in statistics are really all we have already observed. It’s numbers that come based off of the spectrum that we knew, but the spectrum that we know today is not that the entirety of what’s out there. And so, you know, having a statistic, yeah, it’s nice to have a number.

 

00;19;06;00 – 00;19;31;07

Dr. Sajel Lala

But at the end of the day, you know, we are not detecting the milder end of the spectrum of, disease and genetic conditions anywhere. And that as we do more testing and find a very to us presentation for the same genetic condition, we are seeing what these numbers don’t really mean anything. At the end of the day.

 

00;19;31;09 – 00;19;47;02

Dr. Mona

I could not agree more. Oh, sage. Oh, so nice having you on. And like I said, I really would love to have you back on to talk about genetic testing in general. I get so many questions and I’m sure we can, you know, clear the air on so many misconceptions about genetic testing. And again, Angel, thank you so much for joining us today.

 

00;19;47;03 – 00;19;49;09

Dr. Sajel Lala

Thank you so much for having me.

 

00;19;49;11 – 00;20;05;02

Dr. Mona

Thank you for tuning in for this week’s episode. As always, please leave a review. Share this episode with a friend. Share it on your social media. Make sure to follow me at PedsDocTalk on Instagram and subscribe to my YouTube channel, PedsDocTalk TV. We’ll talk to you soon.