2016 NDSC Convention, Part 2

Medical Issues in Down Syndrome

Dr. Vellody spoke at the 2016 National Down Syndrome Congress convention on Medical Issues in Down Syndrome. This is Part 2 of the lecture, including the slides used during the presentation.

Released: 12/15/2016


00:43:03: Hematologic, or “blood” related issues is our next topic. Some of those issues are expected or not too concerning. For example, people with Down syndrome tend to have macrocytosis meaning that their blood cells are large. So when a blood count is done, it’ll report that the blood cells are larger than the normal range. People who work with people with Down syndrome enough, recognize that this is not something that is overly concerning because we see that – it’s a normal finding that we see. Sometimes they’ll get a higher number of red blood cells as well, polycythemia. That can sometimes be an indication of even sleep apnea because it’s almost like going to train for a marathon in Denver and you have that lower oxygen content. Your blood cells will naturally increase to get more oxygen to your tissues. So sometimes, polycythemia or a higher red blood cell count means that when a child with Down syndrome is sleeping at night, their oxygen levels are dropping and it causes an increase in the count. However, sometimes it’s just a little bit higher and not something that should cause any real concern or worry. But it is something that your doctor should be checking, and we’ll talk about how frequently to check it in the next slide.

00:44:25: Leukopenia just means having a lower number of white blood cells. White blood cells are we use to fight infections. The normal range is usually between 5 and 15, and sometimes the kids with Down syndrome will be in that 3 to 5 range. It’s not overly concerning; especially if it is really isolated by itself and none of the other blood cells are abnormal. There’s really not much that you can do about it and it really hasn’t been known to cause any long term consequence.

Additionally, babies with Down syndrome can sometimes be born with a low platelet count – platelets are what cause all of our clotting. Those get checked pretty frequently in the nursery. If they’re low and eventually come back to their normal level, we don’t get too overly concerned with that.

00:45:15: Finally, this is something that all of us really think about when we think about children with Down syndrome and blood issues: oncologic issues – things like leukemia. There’s a very strange phenomenon that can happen in babies with Down syndrome called transient myeloproliferative disorder which we call TMD because it’s a lot easier to say. This is one of those things that babies right out of the womb look like they have leukemia on the blood screening, but the odd thing about TMD is that even though it looks like leukemia – and in all actuality, it really probably is a form of leukemia – it can go away on its own. In fact, almost all the time, within several months, it resolves on its own. We don’t really understand it very well, why they are born with it, but it tends to self-resolve.

However, there is also the real leukemia that we see in 1% of people with Down syndrome, so 1 in 100 - which, of course, means that 99 out of 100 kids will never have leukemia. But still, 1 in 100, you never want to miss that 1 or have a child that is that 1 because it is certainly very difficult. But one of the things that we’ll show here is that because of the way that pediatric oncologists across the country work together to find the best treatments for these kids with Down syndrome specifically, over time they’re able to develop ways to manage leukemia much more effectively. In people with Down syndrome, the treatment for something called AML is much better tolerated, and has a much higher cure-rate than it is in kids that even don’t have Down syndrome.

An interesting phenomenon that I don’t think a lot of families are aware of, because certainly it’s not in medical textbooks! For reasons that we don’t entirely understand, people with Down syndrome don’t typically get solid organ tumors – meaning things like liver cancer, lung cancer, brain cancer, things like that. Tumors that grow on organs don’t seem to happen with any frequency in people with Down syndrome. And, again, we don’t know why. Obviously, there’s something on the twenty-first chromosome that must be protective against that and it is certainly something that people are trying to look into to figure out why. It is definitely something that is interesting and something that a lot of people – doctors even – are not aware of.

00:48:01: So I talked about the TMD already and the one thing to remember, if that baby does have the transient myeloproliferative disease when they are born, they do have a higher incidence than other kids without Down syndrome to actually develop real leukemia later in life. Therefore, we do follow them closely for that potential.

00:48:31: AML (Acute Myeloid Leukemia) which is the leukemia that we see more commonly in kids with Down Syndrome, is very sensitive to the lower dose of chemotherapy – the long term survival rate for kids with Down Syndrome is at 80% is much higher than for kids without Down Syndrome whose survival rate isn’t even near 80%. ALL (Acute Lymphoblastic Leukemia), which is the other type of leukemia, unfortunately is not as well tolerated in people with Down syndrome. And so, they seem to have a lot more toxicity, chemotherapy than we see with the AML. Thankfully, we don’t see it as often in Down syndrome but it’s still certainly something to keep in mind. ALL also has 80% long-term survival, but when you compare it to the 90+% rate that a child without Down syndrome has, it’s not as good.

00:49:37: Then there’s also something a lot less worrisome or concerning, I suppose, like iron deficiency anemia. We certainly seem to see it more frequently in Down syndrome and it’s not really clear why. Is it because they’re very texturally-averse, and so things like broccoli and spinach the kids don’t eat as much?  Maybe the meats – a lot of kids have a hard time chewing the meat – and so they don’t get as much iron in their diet. And then there’s also the concern that maybe they are not absorbing the iron because that can sometimes be a sign of celiac disease. Personally, if I see a child with Down syndrome and low iron levels and it’s not really explained by dietary stuff, or if I replace their iron intake with medication and their levels don’t get better, then I look for something like celiac disease because that can cause defective iron absorption in the gut.

The difficulty, also, with diagnosing – we were talking about how their blood cells tend to be larger – and one of the first signs that doctors look for in iron deficiency is that peoples’ cells are too small. But then if you’re already starting out with a larger cell, a little smaller cell actually puts it in the normal range and so nothing will alert a red flag on the lab values when the doctors are looking at the blood count. It’s definitely something that you really have to be paying attention to, sometimes even sending specific iron levels like ferritin level will be helpful for the doctor to identify actual deficiency.

00:51:09: So that’s where the guidelines came in: so the CBC at birth is looking at the transient myeloproliferative disease, and then every year, they should get a screening for iron deficiency, anemia. And that ferritin and CRP lab that you can send can help decide if there really is an iron deficiency in your child; it can definitely help to find it. So those are some of the labs that your doctor should be doing as part of your screening as well.

And then, I always get this question from families: what about screening for leukemia? When do we do that? And the thing about leukemia, which is unfortunate and also scary, is that you might check a blood count on Friday and its normal, and then on Tuesday the child comes in with a fever, bloody nose, all those scary things that you never want to see and they have leukemia. It’s not something that you have to test as often; it’s not like your thyroid or iron levels. Because of this, there really isn’t a “screening” for leukemia – if the child has symptoms, by all means, their blood count should definitely be checked. But if they’re not symptomatic, the role of screening for leukemia really isn’t there. Leukemia is something that can develop very rapidly and so lab results of a positive leukemia child might be negative just a few days prior.

00:52:35: Immunologic issues are our next topic. Our immune system is a very, in general, not entirely understood – for all people – and in people with Down syndrome, it’s even less understood. On the one hand, they seem to have some immune deficiencies. They get those colds that we talked about more frequently, they hold on to them longer, they can get infections more frequently. But there are also lab differences between people with Down syndrome and not. For example, we all tend to have different immunity antibodies within our system – one of which is called IgA. IgA levels tend to be lower in people with Down syndrome and that can increase their risk of getting sinus and pulmonary infections. They also have a lower amount of IgG which is another type of antibody, specifically all the different subtypes that IgG has – all those will be lower in people with Down syndrome. Again, we don’t know exactly what that means but we are certainly aware that it exists.

On top of the underactivity of their immune systems, people with Down syndrome can also have overactivity with all types of autoimmune conditions. I mean, you name an autoimmune issue in which the body is fighting itself and it will almost always be more frequent in people with Down syndrome. Nobody really knows why this occurs but the list of the conditions: Hashimoto disease, Graves disease which we talked about earlier, celiac, diabetes, vitiligo, alopecia areata which is hair loss, juvenile arthritis which is another type of autoimmune disease – all happen more frequently in people with Down syndrome.

00:54:27: Moving on to the next topic: Musculoskeletal issues. Plagiocephaly – which is a big long word meaning “flat head” – we see a lot of this in pediatrics. In ’91, ’92, the American Pediatrics Association advised everyone to put their babies on their backs to sleep to prevent SIDS – and it works! (We don’t know why, but it works!). The problem happens when you have a child with Down syndrome who is maybe going to spend more time on their back than a typical child simply because their development is underactive, they’re going to have a higher incidence of plagiocephaly. At our clinic, we do give out referrals to our cranial-facial group, the plastic surgeons generally will give the children a helmet to help prevent this. There’s actually been some interesting data that really questions if that is even needed. The head, itself, can really mold itself pretty rapidly in those first few months of life. And so, as soon as you can, getting your kids off the back of their heads and putting them on their tummy’s for playtime is great. Putting them on their tummy is great for development because they have to push up and lift their head, getting all that truncal strength that you want them to get. And on top of that, it really helps with this plagiocephaly. And so, there’s a lot of data that is now asking well maybe we don’t really need to do all of these helmet therapies as much as was recommended before.

00:56:20: Other orthopedic musculoskeletal issues related, primarily, through the hypotonia. All of our weigh eventually ends up at our ankles, and so a lot of folks with DS will have a flat foot because a lot of the time that arch is lower in tone. Then because of that, their ankles will kind of turn sometimes and result in ankle hyperpronation which is what you see in the first picture. In this case, the child kind of has to walk on the insides of the foot.

Atlanto-axial instability

Some of the things that we’ll do is, especially for the younger kids who are having difficulty maintaining that balance, we can set them up with special ankle orthotics that you see in the middle picture. This can help being able walk longer distances because now, they’re walking and stepping on a more appropriate base.

The other thing we see more commonly is things like patellar subluxtation. This is where a ligament – a big fat one – that sits over your kneecap to keep it in place becomes hypotonic. Then the patella can sometimes come off or push in and so, it is definitely something that we watch for.

Scoliosis happens more frequently, again because of that lower tone. The backs can sometimes have a tendency to turn especially right at that rapid-growth time right before puberty hits.

Atlantoaxial instability is a big concern for a lot of folks. As you know, the spinal cord runs down the vertebral column and the atlas. The first vertebrae in your neck, called C1, is also called “Atlas”; the second vertebrae, C2, is called “Atlas”. On the Axis, there’s this finger-looking projection type of thing called the “Dens”. The Atlas then sits on top of that Axis and this is what allows our head to rotate. There’s a ligament that holds those two bones together. If that ligament is lower in tone, then those bones will glide all over each other. And what goes down the middle of those bones is the spinal cord, of course. Therefore, if you have too much movement of the spinal cord, you can actually compress the spinal cord. That is why if you do an x-ray on everybody with Down Syndrome, up to 30% of people might have an abnormality… but only about 1% will ever have any symptoms of atlantoaxial instability.

This came up as a real issue in the 2011 Guideline issue as to whether or not we really should be x-raying everyone with Down Syndrome if so few of them actually have any symptom. X-rays are not without their own potential side effects – not just the radiation exposure – but once you find an abnormality in the image, you can’t really ignore it. So then you’ll probably get a repeat x-ray (more radiation) or you get an MRI (which is probably going to require sedation or anesthesia). And all of these risks starts coming up, and then you get the new images back and they come back normal. Now all of the trouble you went through getting everything done might have actually been putting your child at more risk than it actually was worth.

01:00:24: What happens here, I’ll show you in the picture form.

Atlanto-axial instability

The picture on the left is what a normal x-ray looks like – no atlantoaxial instability. In the right picture, you see how the vertebrae on top kind of slid down on the second vertebrae. That spinal cord, as you can imagine, is fairly well compressed within that cavity. And that’s atlantoaxial instability. And if we knew that the x-ray would have shown us this every time and not be falsely positive or falsely negative, then of course, we’d get x-ray’s on everybody still. The unfortunate thing is that it’s just not a very good screening test. We don’t have a good screening test for this – other than exam.

Every visit with the doctor, they should do a full neurologic exam on somebody with Down syndrome. That includes checking their strength of the lower extremities, checking their reflexes, talking to families about trying to avoid activities that cause excessive neck movement – no jumping on the trampoline, for example. If you jump, jump, jump, you’re constantly jarring your neck and that’s inconvenient; you can fall and that’s a concern that everyone should have; and also, kids don’t just jump on trampolines anymore! One lays down, everyone else has to jump over them! All of that is a risk for neck injuries.

Trying to avoid activities with excessive neck movements also includes ENT type surgeries. For example, taking out the tonsils or the adenoids, requires a lot of movement and straining of the neck to get to those parts, to cut them out, do whatever they have to do in the ENT surgery. We talk to our ENT docs to be careful when they do that; sometimes the anesthesiologists will actually do nerve monitoring on the lower extremities so that if there’s any change in the signal coming down to the legs the doctors can be alerted. We also talk to families about how there’s an increased risk of atlantoaxial instability if you’re going to do sports like contact football, or rugby – where you’re going to run into somebody and jar your neck and can’t control it!

01:02:52: But then families always ask me, ‘Well then, should I not let my child do those things at all.’ And I always tell them, everything in life is a risk. As parents, you have to gauge your risk-level – what are you willing to bet? It’s so unlikely that somebody would ever have symptomatic atlantoaxial instability, and if they say, “I love this game, this sport,” well then you as a parent have to weigh the risk and the benefits and decide if this is something you will allow your child to do.

If they are ever symptomatic, so if they ever have neck pain, neck stiffness, arm or leg weakness, change in the way they are walking – wider gait, or if they lose bowel or bladder control and they’ve had it before, then you should definitely get a cervical spine x-ray at that time. But again, we don’t normally do it – we don’t do it routinely on everyone anymore.

01:04:14: Moving on then to the neurologic issues. About 5-10% of people with Down syndrome – over the lifetime – will have seizures. It really seems to be in two very distinct times of life: In that first year of life, they’ll have an increased risk of seizures that are called infantile spasms; and then as they get older into adulthood, they can more generalized seizure-type issues. Though, the ones that I think more about, as a pediatrician, are those infantile spasms. There’s something called moyamoya disease – I’m not going to get into too much detail about that – but essentially it’s about the way the arteries in the brain are formed. It increases the risk of stroke. It’s very, very rare but if I ever have a child that’s not acting right from a neurological perspective, an MRI is certainly something that can help to look at and see if there are any blood vessels in the brain that aren’t formed correctly.

Alzheimer disease – much, much less common than once previously thought. When I was a medical student, my textbook said that 100% of people with Down syndrome get Alzheimer disease by the age of 40. What we know now is that that’s not true. What’s probably more accurate is that about 10% of people with Down syndrome at the age of 40 will have Alzherimer’s; 20% at the age of 50; and 30-40% at age 60 and above. It’s still more common than in the general population but still much less common than once thought and certainly not as early-onset as once thought.

01:06:39: Dermatologic skin issues are definitely more common in people with Down syndrome. Dry skin, for example, is almost universal. People with Down syndrome very frequently have dry skin and sometimes will even have those little bumps on their skin from where their shirt rubs and things like that. And so to treat that, there’s lot of very, very expensive creams that you can buy… but there’s also Vaseline! I find them both to be equally effective. The issue is that the moisture is not trapped as effectively as in people without Down syndrome. It’s almost kind of like they’re missing that oily layer that sits on top of their skin keeping all that normal, good moisture in. So the best thing that you can do is just put some Vaseline petroleum jelly, on after bath-time and it traps the moisture in. There are also lots and lots of stuff that is all petroleum-based but they’ll just charge you a lot more money. You can choose to use either or.

01:07:38: Brittle nails are something that we also see frequently. It’s on the toes, on the fingers, we see a lot of it but there’s really nothing clinically concerning about it. It’s not necessarily a fungal infection or anything like that; it’s just the way the nail itself is actually made. But bouncing off of that, we do definitely see more frequently athlete’s foot (tinea pedis). Athlete’s foot, especially in the warmer climates if you’re wearing socks and shoes, that’s the perfect environment where yeast would like to grow. The most important thing to do for it is to just look for it. I find in the summertime that at least 1 or 2 kids per week, kids will come in with athlete’s foot – you can easily see the redness and the peeling between the toes there.

But even so, it’s so easily managed. You just have to make sure to get them out of their socks and shoes, at least for a period of time, to allow that environment to change so the yeast doesn’t want to live there anymore. And then also putting some over-the-counter, topical anti-fungal is also very helpful.

Alopecia is the hair-loss thing that we were talking about earlier. We do see that more frequently in people with Down syndrome as well. The treatment for this, however, is very difficult because it tends to come and go and because of that, you never really know what worked to make it better. Was it the steroid cream, the steroid injections, or was it just time? And so, a lot of time the families will just let it be without any type of medication – there’s really no way to pinpoint what works.

01:09:20: Dental issues – by the way, I’m not a dentist. I don’t like going to the dentist. – but definitely, dental issues are more common in people with Down syndrome. The delayed first eruption of the tooth, sometimes missing teeth, wide-spaced teeth, sharp teeth, those types of things we see much more commonly.

They definitely need to see a dentist every 6 months, just like everybody else. But with kids with Down syndrome, we try to start them off going to the dentist a little earlier because oral sensitivities tend to be more common place. That’s why it’s so important to get them in to the dentist more frequently if we can.

01:10:08: And then finally, general pediatric issues: immunize your kids, in general is a good idea but it is especially so for kids with DS. They are so much more at risk for infections because of those immune-related issues that we talked about and so giving them that extra boost is definitely better than finding out later on that they didn’t tolerate the disease when they got it. One extra immunization that the AAP recommends is the Pneumovax vaccine (PPS-23). This is for any child with DS who’s older than two who has or had any time of cardiac or recurrent pulmonary disease issues. It helps to prevent pneumonia, bacteria, 23 more types of pneumonia-based bacteria. Then, the RSV is a vaccine that in Florida you see around all year, but up here in the North it is a bit more seasonal. It prevents against a virus commonly related to those cardiac and pulmonary issues that we discussed. And if your child is born with any of those issues, they will qualify to get the RSV vaccine.

01:11:10: There are also updated Down Syndrome Growth Charts that were released in 2015; your doctor should definitely be using those. They are available online, you can print them out and even bring them with you to your doctor’s appointment. A lot of the times, the electronic medical records have not been updated just yet with the new information and the new ones are far more accurate than the old ones.

And then we always talk about with kids, especially when they get to the older age ranges, about abuse and sexuality. People with Down syndrome tend to be very trusting; they see what they see on TV and then try to emulate that with the kids around them; and so, it is really important for parents to sit down and talk with their kids about appropriateness and social interactions with others. This includes having appropriate social interactions with kids their own age and also with adults. Unfortunately, people with Down syndrome can be targeted by predators so it’s extremely important to be aware of the potential risks and situations and help their child know how to avoid them. If you don’t talk about, then they don’t know. It’s so important to be very concrete and bring it up.

01:12:32: Dietary issues are also commonly brought up in regards to people with Down syndrome. Obesity is not a common end-point for all people with Down syndrome. With the appropriate diet and exercise, they do not have to be obese. Of course, the fact of the matter is, is that it is more common because their ultimate height that they reach is limited, but weight is not. Therefore, it’s important to use and teach appropriate eating habits right from the start. The five year old that comes to see me in the clinic and the family goes, “Hey! We’re gonna go to McDonald’s as your reward!” I mean, I get it – we did it with my brother, too – but it’s not the best thing to do, especially if your child already has a good appetite and intention to eat healthy stuff. Reward them with broccoli if they like it! Reward them with something that’s not food based! The more they get used to making those dietary choices as a five year old, then the more those habits will continue, and in a lot of cases worsen, when they are fifteen in school and have all those vending machines at their disposal.

We definitely try to avoid fad diets or diets that are unnecessarily restrictive. We know that, for example, even with gluten free diets if you don’t have celiac disease, there is a deficiency in certain necessary vitamins and nutrients. So that’s why we really try to avoid those type of diets unless your child actually really needs them. We also definitely try to counsel and talk to our families about what they read on the internet. There’s always something out there that people tout as the ‘latest and greatest’ management or treatment of this part or that part of Down syndrome. Unfortunately, the only thing you can do is pay them $150/month to get them their special medicine that somebody else makes. That should be a red flag right there. If it is evidence-based and proven, then it’s going to be out there in literature and be used if necessary. If it is not, then I would definitely hesitate to start somebody on some new type of megavitamins or supplements that we don’t know what effects it can cause. A lot of the times, those type of new-age medications aren’t even FDA approved and so there’s no way of even knowing what is in them, let alone to know if they are safe or not. 

01:14:50: Now moving on to behavioral issues. Oh my goodness, they are so unfortunately common but so, so manageable at the same time with the right approach! First off, ADHD is definitely something that is more common in kids with Down syndrome than in kids without. There are some management issues to that though because kids with Down syndrome actually tend to be a lot more sensitive to the ADHD medication that is normally prescribed – especially the stimulant ones. If you start at something that is normally a typical dose of a stimulant for somebody else, if you use that same dose with someone in Down syndrome, it’s an overdose. That’s why we really talk to providers about going low and slow when it comes to ADHD medication if it’s necessary.

Autism is certainly more common in kids with Down syndrome – the rate is probably at around 10-15% of these kids could fit the diagnosis. But the problem with diagnosis is that people who are not familiar with Down syndrome are also unfamiliar with the dual diagnosis of Down syndrome and autism. I’ll have families come in saying that, “Oh, we haven’t been to the DS Center in ages,” and I’ll ask them if anyone has ever talked to them about autism because your child is not speaking yet, is having social difficulties, but yet everyone always told them that this was just part of Down syndrome. Doctors often times just don’t know it because they haven’t seen it – they don’t make that distinction.

Sensory Integration Disorders are also very common. I know with my brother and his friends, when they get excited they shake about and flap their hands, or maybe they don’t like how a certain tag feels on the back of their neck from a shirt. We see a lot of those types of sensory things but thankfully, they seem to get better as they get older. However, it is something that the OTs work with families often on.

And then the last one is my own little made-up term: “CDD” which is Chronic Discipline Deficiency. Often times, it’s just misdiagnosed as one of the ones aforementioned. It’s hard; I get it – maybe I’m just an angry sibling, I don’t know. It’s hard when you have your baby that maybe was sick from a heart condition, and your heart goes out to them and the struggles that they’ve had through the developmental issues that they’ve gone through. Lots of times families will just dismiss the idea of discipline saying that maybe they just don’t understand the idea of a time-out. Or they say that they don’t really need to respond when I say “No.” And then what inevitably happens is that when the child gets to 3, 4 years old, they start testing those limits and if those limits aren’t previously set, then it gets to be a real hassle. It’s more than just doctor-abuse that happens to me in the clinic!  You also have to think about employability  down the line. People with Down syndrome, it’s important to note, don’t just outgrow their behavioral issues. They actually tend to get worse and bigger. That’s why it is so crucially important to set limits; do the same thing that you would do with your kids without Down syndrome. The kids with Down syndrome are very smart, and they will very quickly figure out when they are given more leeway than their sibling and then they can really take advantage of that.

01:18:23: Just a quick slide about the benefits of having an extra chromosome 21. We talked about the reduced chances of solid organ tumors. Other things your doctor might not know about is that people with Down syndrome don’t really get atherosclerotic disease. This is when their cholesterol levels can be through the roof, yet they don’t get those cholesterol plaques that other people might typically get. They also don’t get hypertension (high blood pressure) – we don’t really know why. They also don’t get strokes all that often, except in that situation where we talked about with that moyamoya disease. They don’t get the strokes that are related to the clots going to the brain. Cavities also seem to happen less frequently in people with Down syndrome than in others. They also do better with AML, that leukemia we were talking about. They also do better with the infantile spasm, the recovery from the seizures.

We all know, as family members, the typical personality traits that we see in people with Down syndrome are those that I think all of us would like to have more of. They’re more loving, forgiving, organized, honest – those types of things that we’d all like to aspire to be more of, I’m sure. Intellectually even, people with Down syndrome also have better visual memory skills. For example, my brother can remember exactly what we all did on his fourth birthday; I can’t. If I take out one of his 500 CD’s that he has, and I say, “What’s track 2?” He’ll tell me, without a second’s hesitation. And so, using this benefit that they have, the excellent visual memory skills, can actually be something that can be brought to the kids’ educator’s attention in order to facilitate more learning in general.

The visual memory skills also help with reading because, think about it, reading is all about visual thinking. Kids can pick up sight words like “dog” very easily and not necessarily in that traditional phonetics way that other kids do. So teaching them sight words, especially when you start at an early age with them, is a great way for them to develop a love of reading.

01:20:44: Very quickly, I just want to finish with the functions of the Down Syndrome Center and why you should talk to your local hospitals and health care facilities about getting one started in your area if you don’t already have one. This is a relatively new concept – within the last 15 to 20 years: in terms of active Down Syndrome Centers that only see kids with Down syndrome, there are only about 40 in the entire country. Most of them are pediatric based although a few, like ours, also see adults as well. And the reason why that’s important is because if you have doctors and nurses that all they do all day long is see people with Down syndrome, then they get very used to what to expect with this syndrome for kids and adults of all ages. They learn all the ins and outs of the syndrome; who to refer to at what time; what is the best treatment for this versus that; they are all completely up to date with all their specialty guidelines. On top of that, they also know what not to worry about. I’ve seen kids sent to neurology clinics because when the birthday cake came out, they shake their hands! That’s so common in Down syndrome – and doctors and nurses who work exclusively with Down syndrome patients will know that.

01:22:03: Our Center in Pittsburgh is one of the older ones in the country. It was created back in 1989 and we’re pretty big, actually at this point. We have three doctors, a nurse, and a coordinator. We see about 600 patients a year between the two adult and pediatric clinics that we maintain. And this is something that all of us, we love to do. Often, we talk to people who want to start a Down Syndrome Center – in fact, I was just talking to a couple people yesterday. It is so very important to have one if there’s an interest; there is definitely a need for it. At our Center, for example, we do a lot of prenatal counseling. Mothers will calls us and ask about information on Down syndrome because OB’s, even the best intentioned ones, may not have the most up to date information. And then, of course, after the child is born, we see them all throughout their life span. 
In addition to that, we see a lot of residents and med students, all trying to educate them on Down syndrome, as well as PT students and genetic counseling students. The reason for that, of course, is because they are on the front lines when a family gets that diagnosis. They will be the first ones who can give the family any info on what the future looks like and so we make sure that they are prepared to do that.

01:23:27: This is our contact info below. One of the things I’d like to bring your attention to is the podcasts. Those are completely free and available on our website. We make them out of our office simply for families to have information, credible information, whenever they need to access it. We also designed a blog made specifically for you. So that you can share your stories and see others’ and hopefully say, “Hey, I’m not alone.” Obviously, there’s a world-wide benefit to connecting and sharing between families – support is key and it makes such an impact.

01:24:30: At this point in time, I am open to any questions and am happy to answer any that you have. And like I said, we have the Ask the Doctor Sessions coming up shortly as well.

Audience: What is the current treatment for infantile spasms?

Dr. Vellody: Infantile spasms are those seizures that babies get when their under a year of age. Typically what they use is called ACTH which is a hormone-based therapy that most people with Down syndrome respond well with. They respond even better to that treatment than other kids without Down syndrome do. So often times, that is what is used but there are other seizure meds available if needed to stop the infantile spasms.

Audience: Is the tonsil adenoid enlargement a true enlargement or is it just relative to the smaller airway?

Dr. Vellody: It’s probably a combination of both but probably more that their airway is smaller. In fact, if a child with Down syndrome is going into surgery, the anesthesiologist – if they’re familiar with DS – will know to use a smaller tube. Because of that, what normally wouldn’t be so obstructive in terms of tonsils and adenoids now is.

Audience: What is the level of TSH that is treatable?

Dr. Vellody: So TSH, the normal ranges, changes over the lifetime. When a baby is first born, their levels could be up all the way in the 20s and 30s and be completely fine. Then, over that first year of life, it starts to go towards the normal range of being up to about 5.5. As long as the free T4, that thyroxine level that comes out of your thyroid gland is normal, and your TSH is normal, there’s nothing to be concerned about in terms of symptomatic hypothyroidism. I know that there is definitely a lot of internet-based stuff that says the TSH levels need to be even lower but from what I’ve seen, it’s a lot riskier to over-supplement kids than give them a TSH in that 5.5 range.

Audience: Specifically to anesthesia, any issues specific to Down syndrome?

Dr. Vellody: We know that people with Down syndrome are a lot more sensitive to anesthesia than a person without Down syndrome is. To put it eloquently, you can always give more but you can never take away. There is a great review article that came out within the last year that every pediatric anesthesiologist should read. It was published in “Pediatric Anesthesiology”, the journal, and this article did a wonderful job of going through which drugs to give, which ones not to give. If you give this drug, watch for this side effect – it was really, really helpful. I sent it out to my entire anesthesia department as soon as it came out in 2015. That would be something for your pediatrician, maybe, or family practice doc to do the same thing as well just to spread the useful information.

Audience: Side effects to anesthesia?

Dr. Vellody: Low heart rate is a very common side effect to some of the pediatric anesthesia agents that they use, so that’s a real concern that the anesthesiologist should be on the look-out for and ready to address if it happens.

Audience: What about using Prozac in Down syndrome in order to help with the cognition aspect?

Dr. Vellody: There is a study going on right now; we’re not actually sure how it got passed by the review board (the IRB), but they are giving pregnant mothers Prozac and seeing whether or not it effects the development. As of right now, the jury is very much out. We don’t know. There’s so many different trials that have been tried up to this point and yeah, things look great on paper in terms of theory, what happens when you give it to a mouse, things like that. But when you translate that to a child or anybody, really, with Down syndrome, we just haven’t seen anything yet that has helped with the cognition development in kids with Down syndrome. This doesn’t mean that we’ll never find anything, in fact I was very excited to talk to some of the researchers yesterday, but for now we just don’t know.

Dr. Vellody: Thank you for your time guys.

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