2016 NDSC Convention, Part 1

Medical Issues in Down Syndrome – What Families Need to Know

Dr. Vellody spoke at the 2016 National Down Syndrome Congress convention on Medical Issues in Down Syndrome. This is Part 1 of the lecture, including the slides used during the presentation.

Released: 11/03/16


Dr. Vellody
It is my pleasure to be here today and talk to you about this topic which I have been working on for the last several years here at NDSC [National Down Syndrome Congress]. I truly enjoy being able to share the information that I have so that families from all over are able to really understand the health care guidelines. One of the things that we know is that even physicians, pediatricians, family practitioners have a hard time really keeping track of all of these guidelines. It’s a good thirteen-fourteen pages long when you look at them. And so, to know what kind of health issues to expect and what to watch for can be a challenge. It’s good for families to be aware of these things. I don’t make any extra money from anywhere so I’m not gonna try to sell you anything today; that’s a good thing! Today we’re going to talk about the health care guidelines. I’m going to talk to you about the guideline’s recommendations, but also things that are not addressed in them. After doing this now for many years in my job, I can share with you some of my own personal opinions on some of the things that families ask me about frequently. We will be having ‘Ask the Doctor’ sessions as well. We have two of those that we’ll be doing: this afternoon there will be one focused on teenage and adult issues in Down syndrome, and then tomorrow morning at 8:30 we’ll be having one on pediatric issues. We should have a few minutes today after this session for a few questions but definitely will have more during the Ask the Doctor sessions – those are a lot of fun as well.

00:01:35: And then we’re going to be talking about what a Down Syndrome Center does. If your area doesn’t have one – your region maybe may not have one - what’s their role? Why should you work as parents towards trying to get your local hospital and health systems to have a Down Syndrome Center in your area, as well.

00:01:53: Health care guidelines for people with Down syndrome is a relatively new thing. Only in the 1970s, people started to recognize that it’s good to have some sort of guidelines in place for people with DS. They had a lot of expert opinions at that time, but really no data, no information that was evidence based. In the 1990s, that’s when the Down Syndrome Medical Interest Group (DSMIG) was formed. And that’s when doctors who kind of do what I do, started to get together and said that “Maybe we should be a bit more rigorous in our opinions and in what we are putting forward in our guidelines.” It was in 1999 that DSMIG and the American Academy of Pediatrics got together and published official guidelines and they were most recently revised in 2011. It was a big revision, in fact one that many of the doctors in the community may not be aware of all of the changes that came about. And so we’ll be talking about those changes today.

00:03:03: There should be hopefully a new update within the next several years looking at what the current evidence is showing now – moving forward in terms of what we should be doing for people with DS.

00:03:15: So what we’ll start with is the first part of the guidelines: genetics. When there’s a new baby born, it’s important for the doctors to always send a karyotype or chromosome analysis for the baby. In this era, as you guys probably know from literature or even lay news, there are new ways of diagnosing people with Down Syndrome – even when the baby is still inside the mom. But it’s still very important to have that confirmatory chromosome result sent for many reasons which we’ll cover shortly.

00:03:53: When we look at the chromosomes of this baby boy, who has Down syndrome, you can see there with the circle and the arrow that this baby has three chromosome 21.

This is the most common type of Down syndrome that we’ll see; about 95% of people with DS. This is not the type that is hereditary – it doesn’t have any increased significance of DS in terms of future children, siblings of that baby, and so on. But the one that we look for, more so, is the translocation type of DS. This is about the type that only about 3-4% of people with Down syndrome have.

And here you can see one of those Chromosome 14s – the one with the arrow next to it – is a little bit longer than the other one. That’s because the chromosome 21 attached to it. And so this boy has 3 Chromosome 21s, it’s just that the third one is attached to 14. The reason why it’s so important to know this is because this does actually change how doctors would do genetic counseling for the parents. In this situation, the parents would be offered chromosome testing for themselves because one of them might actually be carrying that elongated 14/21 combination. For example, in this case, this is the father’s chromosome map.

00:05:09: Now this father doesn’t have Down syndrome, but he does have that 14/21 combination and so he would have a higher chance of having future children with DS. And so it’s important from a genetic counseling perspective that if a family wants to know if they’re at an increased chance, the only way of knowing for sure is by checking the parents’ chromosomes if the child has that translocation type.

00:05:38: One of the main reason why we would want to check the chromosomes is that it’s important for parents to have a copy of the actual chromosome report on hand. The reason being is that there are going to be certain times in that child’s life where knowing that they have Down syndrome may open doors for them in terms of services. I know in PA, for example, Medical Assistance or SSI, those types of things, you need to be able to have proof that the baby has Down syndrome and that proof is the chromosome report. And so it’s important for families to have a copy of it. That is why during our clinic visits – especially the initial ones – we know that the family has a copy somewhere.

00:06:28: The next part of the guideline that we’ll talk about will be cardiac related. Now this is the most common thing we think about in terms of DS. We often think about heart issues, especially for the babies, because half of them will be born with some sort of heart issue. Now not all of them are going to require any type of surgery but in about half the cases there will be something. The most common one is Atrioventricular Septal Defect which I’ll show you in a picture here in a second. But you can have a variety of other heart problems, and the only way to really know is by doing an Echocardiogram on the baby – we’ll talk about that in terms of the guidelines in a little bit.

But this is what Atrioventricular Septal Defect looks like. You can see in area #1 that there is a hole in the upper chambers of the heart. #4 is showing you that there is a hole in the bottom chambers. And #2 and #3 are showing you that the valves between the upper and lower chambers are also what we call ‘atretic’ – not fully formed. Because of this, there’s mixing of all of the blood throughout our heart. We want to keep our blood that’s oxygenated separate from the blood that is not oxygenated. In this situation, with this type of condition, there is going to be mixing between all of the chambers of the heart and so, of course, this is going to require a surgical repair. This is the AVSD that we see in so many of the babies that are born.

00:08:18: When we think about cardiac surgery in DS, for most of the people here, you think, ‘Of course, cardiac surgery. The baby needs it; they would get it.’ But it really wasn’t until the early 1980s when cardiac repair was routinely offered to people with DS. There was this misconception that with DS, the risks of heart surgery were too great. When they weren’t given the heart repair, the babies with ASD or many other heart issues would eventually grow on to develop what’s called pulmonary hypertension – high blood pressures in the lungs. By the time that happens, it’s too late. You can’t overcome, or surgically repair, those high blood pressures in the lungs. It’s really a sad commentary, to be honest with you, on medicine in general that it took that long to get to the point that we would routinely offer heart repair for people with Down syndrome, like we would for any child. What they do nowadays is the surgery gets done – they try to wait or hold it off as long as possible simply for technical reasons (so that the baby is a bit larger, can handle anesthesia a little bit better) so that surgeons can safely go in and do their thing. It’s just easier to do that on a baby that’s a little bit bigger than a newborn.

And so, around 6 months of age is when we try to get the baby ready and in for heart surgery but at times, the baby can’t wait that long and needs to get it done sooner. This can be because of issues that pop up and so the cardiac surgeons will do that a little bit earlier if needed.

People have studied that false conception – the one that people with Down syndrome don’t handle cardiac surgery as well – and in fact, what they found is that people with Down syndrome actually handle surgeries better than people who don’t have DS. It was really nice to see all these articles come out showing that kids with Down syndrome actually do really well with heart surgery.

00:10:37: So the guidelines then, from that, recommend that every baby with Down syndrome have an echocardiogram done. And it’s not enough that they have the echo done when the baby is still inside; it needs to be done also when the baby is born so that we have an accurate image. Like many of the guidelines, obviously that’s a good thing to have but it’s hard if you live somewhere that doesn’t have easy-access to a pediatric cardiologist or an echo lab. Many of these guidelines you can do locally but some of these make you go to places that are trained in cardiac care so they are a bit of a drive. The echo guideline is one of them. It is best to have that echo done somewhere where a pediatric cardiologist can just read it and it would be the most beneficial. I know in Pittsburgh, as in other hospital systems as well, they’ve contracted with community hospitals around the region. This way, they do the echo locally and send the images to the cardiologist at the city hospital. That may be an option as well but regardless, it is definitely important for any child with Down syndrome to get an echo done in those first couple of months of life.

And then after that echo, when the babies become children, if they don’t have any cardiac issues or symptoms at all, then it is not really necessary to have another echo done. It only becomes necessary if the doctor hears a new murmur or the family is noticing some fatigue or chest pains or something like that. The first echo is really the only one that is required.

00:12:22: The next system that we’ll be talking about is the gastrointestinal system. And the big thing with GI system is that when babies are first born, they can be born with obstructions anywhere along the GI tract. From the mouth all the way to exit, there can be blockages anywhere. And all of these are examples of blockages that you can find. And so, when the baby is born, the doctor needs to notice any vomiting or delayed passage of bowel movements or anything like that because there might be an obstruction along the way.

Additionally, GI related issues can be noncongenital which means not born with it. The big one that we see a lot of is reflux. A lot of babies and older kids with Down syndrome will have issues with this. We really don’t have great management for reflux yet, to be honest with you. The medications that we have available will reduce the acid content of the stomach but they don’t stop the reflux from happening. Thankfully it does seem to get better as the kids get older – especially when the kids’ pass their first birthday, definitely by their second birthday when they are getting to be more upright. However, it is a challenge in terms of management for reflux.

We also think about celiac disease. Any time you come to an NDSC convention, you’ll always see those gluten free options in the menu and such, and that’s because gluten – which is found in wheat products and other types of grains – can cause, not so much of an allergy, but just a reaction within the intestinal system which is known as celiac disease. And the kids can present with diarrhea, bloating, weight gain, and a myriad of other things, even behavioral issues. This is pretty common and the difficult thing with celiac disease is that when a child with Down syndrome gets diagnosed with it, they are asymptomatic – meaning that they don’t have the diarrhea, bloating, those types of things. Then really, the data shows that they don’t have any long-term consequence. This important because if you have a person like you or me who doesn’t have Down syndrome but develops celiac disease, they may eventually develop lymphoma. This is not the case with Down syndrome patients. So then the question came up, “Do we really need to be screening everybody for celiac if all we’re going to do is put them on a really restrictive diet and not have any long-term changes in the outcome?” And so, that led to the guideline change that we don’t necessarily have to screen everybody with Down syndrome for celiac disease unless they have symptoms.

00:15:38: The next one we’re going to talk about is constipation, also known as “diarrhea”. I put this x-ray here; on an x-ray, black is air. Anything that is solid or grainy looking is typically stool. This child with this particular x-ray, came in with the family with the concern that there was lots of leakage of stool – which was called “diarrhea”.

More often than not what I see in my clinics, chronic diarrhea is constipation as an overflow of liquidy stool around a big hard ball. So that’s why when a family comes in with a concern of diarrhea, we always wonder and ask about potential constipation because that’s far more common in the kids that we see.

Feeding issues is a real problem. It starts off in babies right at the newborn period - if anyone here has breastfed their baby that you probably, maybe, have noticed that it’s a little bit more challenging than breastfeeding a typical developing child. We have some families in Pittsburgh with a large number of kids and I have mothers come in with their tenth child saying, “I’ve breastfed nine of them! Why is this one so difficult?” And a lot of the issues with breastfeeding stems with the lower tone that a lot of Down syndrome babies have in their mouths. They can’t get that good latch; they can’t generate that strong suck. But the worst advice that I’ve heard people been given is ‘Oh, just give up. It’s not worth it.’ And that’s just wrong.

We really work in our Center to help the mothers find the appropriate lactation advice to be able to breastfeed if that’s the goal. And, of course, breast milk really is the best thing for babies – especially babies with Down syndrome because of some of the immune issues that we’ll be talking about. Breast milk has a lot of immune-improving properties. Because of that, we really support families that want to breastfeed; we’ll give them as much support as possible because it is definitely not impossible to breastfeed babies with Down syndrome.

00:18:02: And then moving later in life with the feeding problems, a lot of kids will develop oral texture aversions. They don’t want crunchy food, or maybe they don’t like mixed textures, or they have difficulties with swallowing and gagging, those types of things. We see a lot of those types of issues in our clinic and we use our feeding specialists quite a bit to help with managing those issues.

00:18:26 So when we look at the 2011 guidelines, we talked about babies being born with obstructions. They said to definitely watch for any vomiting or constipation issues; we definitely need to be aware of any sort of issues of that nature. And also to screen for celiac disease only if there are symptoms.

00:19:03 Moving on to the next section, which is the Respiratory issues that we see in Down Syndrome. We talked earlier about the pulmonary hypertension, which are those high pressures in the lungs – we definitely watch for that as an issue that we might see. Chronic congestion is also a severe issue, and it often gets treated as if it’s an infection. That’s because, many times, anatomically, the airways in people with Down syndrome tend to be more narrow – especially in the younger-aged kids. And so when they get chronically congested and they have problems with snoring, which we’ll talk about in a couple of slides, they tend to hold on to those fluids in the nose. That’s why when the kids get colds, they tend to hold on to those colds forever and ever, it seems like – 2 or 3 weeks or so. Some of the families will say that during the winter time, they’re sick all winter long and then when summer comes along, they seem to get better.

Finally, croup is a real issue as well. Croup is that narrowing of the airway as a result of a viral infection. If you’ve ever had a child with croup, you know how scary it can be because it sounds almost as if they are choking. They can’t get their breath in; they have that barky cough, those types of things. And we see croup a lot more frequently in people with Down syndrome because of that narrowed airway that they’re born with.

00:20:40: When we think about the guidelines in terms of these respiratory issues that we’ve talked about, for babies born in a newborn nursery, they recommend that nurses actually check if they can tolerate being in a car seat before sending them home. And you think, ‘Well yeah, can’t all babies be in a car seat?’ Not necessarily. Some babies that are born with already serious respiratory issues, as well as babies born with an even lower tone that makes them bend over further, being in a car seat can actually obstruct their airway even more. Because of that, most nurseries will actually do a car seat safety test before the babies would go home. And then if they’re having any of that noisy breathing or wheezing or heavier breathing, then Ear Nose and Throat will typically get involved quickly to make sure that there’s not anything else further narrowing that airway.

A big thing that I talk to pediatricians and family practitioners about is that just because a person with Down syndrome gets a cold, it doesn’t necessarily mean that it was caused by bacteria. One of the things I see too frequently is that the well-intentioned families and doctors will really push to try to get their child to take antibiotics early, and we know that there’s lots and lots of side effects to these drugs. Some of these effects happen right then and there, and some will happen later on. That’s why it’s so important to follow our typical pathways for these types of issues: if there’s no evidence of a bacterial infection – high fever, symptoms going on for ten days – then it really is probably worthwhile to wait a little bit. The risks of antibiotics sometimes will outweigh the benefits, especially early on in a cold.

00:22:28: Kind of similar to the respiratory issues that we talked about are the Ear Nose and Throat issues that we see. A lot of ear infections, especially in the early part of their lives – in the first 6 to 8 years I would say – kids with Down syndrome get them so frequently and they are such a challenge. The drainage of the ear, the tube that takes out that excess fluid, is actually narrowed in people with Down syndrome and so it often takes a different course in those patients. This makes it hard for the middle ear to get rid of that fluid and so the infections take a lot longer to clear. Many times, the kids will have persistent middle ear effusions where although it may no longer be infected, there’s fluid sitting behind there. This can affect hearing, and we already know that speech a lot of times is delayed in kids with Down syndrome; when you delay it even further by months due to hearing, it can be a real issue. Because of this reason, we do a lot of ENT referrals mainly to keep track of those ears. It can even be a challenge for a doctor to look at those ears, as I’m sure many of you have experienced with your kids. It can be so difficult to see the eardrum and the fluid beyond simply because the ear canal is so narrow.

Over the lifetime, hearing loss is quoted in people with Down syndrome at about 50%. Now that’s not permanent hearing loss; that also includes kids that are 5,6 months old and have that fluid in their ear and don’t pass their hearing screen because of that. But once the fluid comes out, their hearing has improved. But nevertheless, it is something that we watch for in people with Down syndrome – even throughout their whole lifetime. Sinusitis, which is usually viral, we need consider it being bacterial if it lasts more than 10 days, or if there’s a high fever involved, things like that.

And then I also want to mention obstructive sleep apnea because this is the one that caused probably the most discussion about the guidelines when they came out in 2011. Obstructive sleep apnea is really, really common in Down syndrome. And there is significant potential risk if it goes untreated or undiagnosed. One of those is the pulmonary hypertension that we try to avoid at all costs in people with Down syndrome. Another effect can be that kids can develop a little shorter than their peers. Getting to that final adult height that people with Down syndrome want can already be a challenge, but then having sleep apnea on top of that can also decrease their chances of growing. Additionally, having sleep apnea also increases the chance of obesity and then also, being obese increases your chance of sleep apnea – so it’s like this never-ending cycle. There is also more situations of reflux with people with untreated sleep apnea.

And then finally, because of the lack of sleep, young children can actually become hyperactive – you guys have all seen that, I’m sure! Kids that don’t get enough sleep the night before, they get all revved up and bouncing off walls! The same thing happens with kids with Down syndrome that have sleep apnea that goes undiagnosed: because the brain isn’t getting the rest that it needs, that restorative sleep doesn’t happen, the kids end up having high energy and many times, I’ve seen kids be diagnosed as opposition defiant or ADHD or something like that, when really it’s sleep apnea playing a big role. Of course, this is all going to affect school performance. Kids with untreated sleep apnea are not going to be able to learn; I mean, try learning after going to bed at 4 am and waking up at 6 am, that’s just not going to happen. And that’s what the brain of somebody with sleep apnea is like. They’re just not getting that restorative sleep to be able to learn new tasks.

There’s also an interesting potential in earlier onset of dementia. And we’re going to be talking about Alzheimer’s in a little bit. It’s not something that’s quite as common as it once was thought – it is more common in people with Down syndrome than in people without, but not as common as it was once predicted. With sleep apnea, there’s a concern that it might make dementia happen even sooner and more often. Therefore, we definitely don’t want someone to have sleep apnea and not know about it or not treat it effectively.

00:27:09: Why does sleep apnea happen so frequently in people with Down Syndrome? This picture shows you a lot of the issues that people with Down syndrome have that increases their chances of having sleep apnea.

They tend to have a smaller mouth cavity so, relatively then, the tongue happens to be much larger. That tongue will then go backwards when they sleep and obstruct their airway. Or, in another scenario, they might have adenoids or tonsils that are larger that will block off that space when they sleep and cause those obstructions. People can have things all along their airway, I’m not going to be able to go through all of them, that can be subject to potential narrowing caused by Down syndrome. This shows you why it’s so frequent, but also why it’s so difficult to manage; there can be many, many areas of obstruction.

And then you see here in this picture, when this person is sleeping, the guy on the top has very nice airflow right into his airway. But then in each of the stages, especially in that bottom picture, you can see how everything gets obstructed when they sleep. When you sleep, your tone drops, and then you already know that people with Down syndrome already have a lower tone. So when it goes even further when you sleep, all those airway structures go backwards and obstructions are caused. Lots of families come in saying, “Oh, my child has the strangest sleep patterns; he just folds in half at the waist. Have you ever heard of that before?” And I say, “Oh yeah, all the time.” It’s something that we see a lot because that position actually helps to move all those airway structures forward. People with Down syndrome will find natural ways such as this to help keep those airway structures from being obstructed so that they can get air while they sleep. So when parents come in asking if they should be correcting their child’s sleeping position, I tell them, “No, don’t, but we should probably find out where that obstruction is and move forward with diagnosing sleep apnea,” if they mention any other symptoms of it.

00:29:17: So then in terms of the guidelines from the Ear Nose and Throat perspective, all babies across the country get hearing screen. And if they fail the hearing screen, all babies get a repeat test within the first three months of life. Where it becomes more specific to Down syndrome is that we continue to recommend hearing screens moving forward – especially in those first three or four years of life because that is when speech is actively being acquired. If they don’t have great hearing, they’re not going to be able to pick up language as well and that’s why we check every six months in those first few years. And then after that, they get annual hearing screens as part of the recommendation to make sure that they don’t have any hearing loss developing over time. It’s important to note that the big part of these guidelines is prevention – especially with things like hearing loss – and manage it before we have any issues related to it. That, of course, is the best case scenario. If there are concerns of reoccurring ear infections, or hearing loss, then we refer them to the ENT doctor.

The sleep study recommendation is again a huge challenge, because for me in Pittsburgh it is pretty easy to get these done because we have a giant Children’s hospital. But for many families that come from four hours away, it’s a real challenge to find a place that can do a pediatric sleep study. Not only that, but finding a place that says, “Oh yeah, we can do a sleep study,” but also knowing if that facility is equipped – do they know how to manage the facial sensitivities that the kids will have being hooked up – can be a real challenge, and also finding out if they have a pediatric doctor who is able to interpret the study. The interpretation of the study requires knowledge of pediatric sleep; adult sleep and kids sleep is very different. And so, how you measure that really requires the knowledge of someone who is experienced in that field. Similar to the echocardiogram mentioned previously, the sleep study is definitely worth the drive to the closest children’s facility that is able to do these and interpret them correctly, but also with knowledgeable techs that are able to work around the facial sensitivities of people with Down syndrome.

00:31:47: Now we’re going to be talking about eye issues.

Eye issues are very common so this is a list of a lot of the eye issues that we can see in people with DS. The girl on the top has esotropia – the right eye is looking inward, while the left eye looks straight. And over time, if that goes unmanaged it can lead to actual blindness if that right eye because the brain will actually start to ignore any signal it receives from it. The picture in the middle is the corneal clouding that we will see in cataracts. The person at the bottom has what is called Keratoconus which happens later in life in people with Down syndrome and essentially it’s called “-conus” because you can see that cone coming off the eye. As you can see, we see a lot of different eye issues especially in our kids.

This leads us to where the health care guidelines went in terms of eye issues. We now check everybody for something called a “red reflex”. In that middle picture of that person with a cataract, typically when a doctor looks into the eye like that, there will be a red dot as a reflex showing back. This is because of all the blood vessels that are around the eye. So when there is something blocking that, that’s a concern – it means that something is blocking their vision as well. That’s why doctors should check for that at every visit.

Strabismus – the issue that we saw with the eye-wandering thing in the girl – and nystagmus which is rapid eye movement that go side-to-side, issues like that often get better as the kids get older. However, sometimes ophthalmologists will recommend further testing if they see that lasting longer than usual.

Additionally, for any time that parents have concerns of eye issues in their babies, they should automatically get referred to an ophthalmologist. But even if there are no concerns, they still should see an ophthalmologist by that referral pattern I put here at the bottom from the guidelines. Within those first 6 months of life, of course, but that also pretty frequently for the rest of their life. And it’s important to note that an ophthalmologist is different than an optometrist and so it is important to look for someone who is a medical doctor, who works with the eyes, to see the kids according to this time frame made by the guidelines.

00:32:26: Next, we’ll talk about endocrine issues. The endocrine system is your hormonal system and the most common thing that we see in Down syndrome is hypothyroidism. This is a condition with the underactive thyroid. We see this in the lifetime of about 15-20% of people with DS. Sometimes the babies are born with; about 30 to 40x more frequently than the rate of the general population. It’s important, again, to recognize it as soon as possible in order to curb or monitor any potential affects. Endocrine issues that can develop later in life after the newborn period are typically autoimmune issues – meaning that the immune system gets overactive. We see this frequently in patients with Down syndrome and we’ll talk more about that in a few slides.

Thyroid issues, often times there can be antibodies that the child themselves or the adult will make that will attack the thyroid gland and make it not function anymore. That’s why it is so important to keep repetitively looking for these issues. Many of the times, the symptoms of hypothyroidism can look just like what we see very commonly in DS. Things like constipation, dry skin, or learning difficulties, excess fatigue – those types of symptoms we see in Down Syndrome are also things that we see in hypothyroidism.

Hyperthyroidism, or overactive thyroid, also happens frequently. This is called Graves disease. This is much less common than hypothyroidism but it still happens enough in patients with Down syndrome to be on the lookout for it.

Then Type 1 diabetes – this is the autoimmune kind of diabetes, the childhood onset type of diabetes, also happens more frequently in people with Down syndrome so we do definitely think about that as well.

This is just a slide to kind of show you how the thyroid system works. There are a lot of information and mis-information out on the internet about thyroid issues and I think it’s important to understand how the whole thing works. And it also helps to understand in the long run, why the doctor is sending what tests.

Essentially what it is, the picture on the left is showing the diagram on the right. You brain – in the hypothalamus – releases what’s called “thyroid-releasing hormone.” This tells your pituitary gland that it needs to release what’s called “TSH” – and you guys have probably seen that, that’s the one that we measure. TSH is what tells us how our thyroid is function. Then, TSH goes to the thyroid gland and makes it make the thyroid hormone which is T4. TSH, T4 – those are numbers that you probably have heard of, seen before. After that, the really neat way that most of our endocrine system works is that after the thyroid hormone is made, it then goes back to those earlier steps and suppresses further production when it gets to the right level. It’s kind of got its own set point, type of thing that it does.

And so, if your thyroid gland starts to become underactive, then it’s not going to be making that T4, which going to make your pituitary release more TSH. That’s why with hypothyroidism, the TSH number actually goes up because the pituitary gland is trying to release even more of it so that T4 could be made. But unfortunately, over time, a body with hypothyroidism just can’t keep up with all the TSH being made and that’s why that thyroxin – that thyroid hormone level – goes down.

00:38:41: You’ll see different folks out there with different opinions on what the thyroid normal levels should be. Thyroid issues are not new – they have been around for a long, long time. So management of hypothyroidism is not some new thing. We definitely don’t support the replacement of the thyroid hormones in the absence of hypothyroidism. It’s something that I’ve seen on the internet a lot. I get a lot of questions from families about it too, so it can be potentially harmful to replace thyroid hormone when it’s not needed.

And looking at the symptoms, with hypothyroidism you’ll see all of those things that we’ve been talking about earlier. With hyperthyroidism, it’s essentially almost the exact opposite. When you get overactive, you’ll see almost the opposite symptoms of hypothyroidism except for poor growth which happens in both. If we have kids that are having a hard time gaining weight or maybe issues with development, we’ll often check the thyroid a little more frequently just to make sure that they’re not developing hypothyroidism.

00:39:52: As far as the guidelines go regarding the thyroid, all of the state screenings screen for hypothyroidism. The problem is that not all of the states screen in the same way. Therefore, it’s really important that a baby with Down syndrome gets that TSH level sent because if they only check the thyroid hormone, that thyroxine, they’ll miss the kids that are on their way towards hypothyroidism because those TSH levels might be higher. In Pennsylvania, for example, we don’t automatically screen for TSH so we always make sure that the babies get their TSH levels sent before they leave the newborn nursery. Along with missing signs of showing hypothyroidism, the worst thing that you can do for a baby with hypothyroidism is that you don’t treat it. The thyroid is so important for the growth and development of that rapidly growing child and so it’s really important to identify it early.

After the initial TSH screening at the nursery or in the first couple weeks of life, they should get repeated at this interval: 6 months of age, year of age, and then every year for the rest of their life. Some doctors will send a TSH and a free T4 – that’s fine. But it’s that TSH level that really needs to be sent. If the TSH level comes back abnormal for whatever reason, then they definitely want to check how much thyroid hormone is being made by checking that T4. If the free T4 is low, then they should be started on Synthroid or levothyroxine which is essentially replacing what the body isn’t making. This is really well tolerated once a day but the hardest thing about managing hypothyroidism is making sure that it is diagnosed. Managing it after that is actually pretty simple – you just give them that levothyroxine and you replace what the body isn’t making on your own.

And then there’s also this strange phenomenon where the TSH can be high but that free T4 can be normal. In some kids, that ends up becoming hypothyroidism later on, and in some kids, it just resolves on its own. When we run into this situation, we know that the TSH and T4 levels need to be followed more frequently as it might be a sign that the pituitary is telling the thyroid hormone to work harder.

In terms of diabetes also, like I said, Type 1 diabetes is more common. And so, if the kids are having excess urination, excess thirst, hunger, being more fatigued than usual, we’ll also check their blood sugar to make sure they’re not developing Type 1 Diabetes.