Adult Related Issues

Down Syndrome Center at UPMC Children’s Hospital of Pittsburgh

Dr. Bulova joins us today from the Adult Down Syndrome Center to discuss issues that can arise in adults with Down syndrome.

Released: 6/20/14


Dr. Vellody: Hello everyone and welcome back for our next Down Syndrome Center of Western Pennsylvania podcast. So far in the podcasts, we have been focusing on primarily pediatric issues in Down syndrome. However, as we all know, children don’t stay children forever! This includes your young ones with Down syndrome who will one day become adults and who will likely live longer than any other previous generation of people with Down syndrome. Much of this increased lifespan is due to vastly improved medical care for people with Down syndrome. So, I thought it would be a good idea for us to discuss the medical care of adults with Down syndrome with our very own Dr. Peter Bulova. Dr. Bulova runs the adult portion of our Down Syndrome Center here in Pittsburgh and is a nationally recognized expert in the field of adult care in Down syndrome. Dr. Bulova, thanks for being here with us today. Could you start us off with a little about your training background and what you do at the Down Syndrome Center?

Dr. Bulova: Sure. I am a trained internist. I see adults ages 16 and up. I was a resident here at the University of Pittsburgh. I was a chief resident here. I’ve been in practice since 2000. I’ve been seeing adults with Down syndrome since 2003. I see patients about a half day per week. I’ve seen about 400 patients to this point in 2014.

Dr. Vellody: Ok, thanks. As we’ll get into later in the podcast, there really aren’t that many internists who specialize in caring for people with Down syndrome. Could you tell us how you got involved in this field?

Dr. Bulova: Oh sure. I think I was inspired by Bill Cohen. I worked with him as a medical student, and I saw the care that he gave to his patients . . . the joy that he got out of caring for patients. When I was in high school I worked with kids with cerebral palsy and really enjoyed working with the population. I decided in 2003 just to give it a chance, and it’s been such a fun experience ever since. It’s been a really great opportunity.

Dr. Vellody: I think that’s awesome that Dr. Cohen was so influential in your decision. For those listeners who never met Dr. Cohen, he was the original medical director of the Down Syndrome Center and worked there for 20 years before his untimely passing in 2009. It’s hard to believe it’s been 5 years already. He was certainly an inspiration to me as well to be doing what I’m doing now. Anyway, we are all so glad that you took that chance back in 2003 to work with the adults with Down syndrome. Could you tell us a little bit about the make-up and staffing of the adult DSC?

Dr. Bulova: Sure. We’re located in Montefiore hospital. What we have that’s unique, for one thing, is we have Sheila Cannon which you also have in the children’s center. Sheila is a great link to the Down syndrome community and knows so many of the resources that are available for adults. We have staff that are specifically trained to work with people with special needs. I think that ‘s been one of the strongest points for the clinic. Our patients are quite comfortable, and the staff love working with them. It’s been a really nice relationship. We also have residents that work with us too – often people that are interested in Medicine and Pediatrics. I think they’ve really enjoyed working with the population too.

Dr. Vellody: That’s great. I agree that having Sheila as a constant in both portions of our Center is a great benefit. People with Down syndrome tend to like to avoid change and having the same Sheila in both locations during the time of transition is invaluable. Now, here in Pittsburgh, families are probably used to the idea of having a life-long setup for a Down Syndrome Center. I don’t think that it is very common all over the country and maybe you could tell us why.

Dr. Bulova: It’s not found all over the place – it makes Pittsburgh quite unique. There are about 19 or 20 adult centers and even less of those that are associated with a pediatric center. The reason that we have a Center at all is because the local parent community that gives us the support. Otherwise, we would not have one. That’s why there’s so few is that they have to be supported by some other funding, like a parent group.

Dr. Vellody: Thanks for that perspective that I’m not sure a lot of our families know. What we are able to do here in Pittsburgh depends completely on the independent funding we get each year. If the funding disappeared, so would both the pediatric and adult centers. So, thank you to all the families that donate to the local Down Syndrome Association of Pittsburgh or directly to our Center. Okay, let me ask you this. Can you tell us which adults with Down syndrome should be followed at the Adult DS Center and who could be managed primarily by their general internist or family practitioner?

Dr. Bulova: Oh sure, that’s a very good question. Probably most issues can be followed by a general practitioner, but the knowledge in the field changes so rapidly that it’s a great chance for people to come see us. I like to see people about once a year. There are some very specific issues that can come up with adults. There isn’t a great article like we have in Pediatrics. There is no “how to care for adults with Down syndrome” article. So much of it is more based on experience. I think that’s why it’s helpful to come to a Center. There are several specific medical issues that we screen for in everyone, and I don’t know if that’s known by all internists.

Dr. Vellody: That’s interesting. As you know, in the care of children with Down syndrome, Dr. Cohen was instrumental in getting the original healthcare guidelines passed. They were recently updated in 2011 and are based on the evidence published in the medical literature. So, there just isn’t the same thing in adults?

Dr. Bulova: That’s true, we don’t have true definitive guidelines, but we have lots of suggestions. There have been several papers that have been published that suggest that we have vigilance for certain conditions. They don’t tell us exactly what age to start looking for them, but it gives us enough to go on. For example, we know that there’s an increased risk of fractures once people are 50 and up. While there’s no suggestion of when to do a bone density study, at least it can give us an idea that probably in someone’s 40s or 50s would be a very appropriate time to get one. Hopefully, we will have more guidelines. I’m on the national board for the Down Syndrome Medical Interest Group. We’re trying very hard to try to establish some guidelines using the data that’s available. Because we haven’t had so many adults in the past, we don’t have nearly as much data as they do in the pediatric population. We have a little less to work with, but thankfully there are several doctors with experience. Hopefully, we can pool those experiences.

Dr. Vellody: That would be great. Could you run us through some of the issues that you see and screen for in adults with Down syndrome?

Dr. Bulova: I often tell my patients that you, Dr. Vellody, have a harder job than I do because I think that most of the major issues occur before age 20. It’s a relatively small amount of things that we see from 20 and up. The one’s that occur more commonly are all more common in children. For example, celiac disease or an intolerance to wheat is quite common to occur in an adult even if it didn’t occur when someone was a child. The same thing is true for thyroid disease which we see in about 40% of our adults. Obstructive sleep apnea can also appear in adulthood. What makes some of these conditions unique is that people with Down syndrome don’t present in the same way people in the general population do. For example, somebody with obstructive sleep apnea might present with a decline in skils. I’ve had several people come that were already given a diagnosis of dementia for having a decline in skills when it was something that was more treatable such as obstructive sleep apnea, hypothyroidism, or depression . . . other things that can occur in adults.

Dr. Vellody: That’s a great overview. We touched on it earlier about how people with Down syndrome are living longer. What is the current life expectancy for people with Down syndrome?

Dr. Bulova: The life expectancy, if you look back 50-60 years, was 9. Today, it’s 60. Much of that is because the #1 cause of death has been related to heart valve problems . . . endocardial cushion defects . . . some sort of heart problem. Now these are being corrected so successfully. People are now living into their 40s, 60s, and 70s. We haven’t had to take care of adults before which is a great problem to have. There’s very little literature about them because they didn’t exist so much in the population. The new issues that we’re seeing, what I think is interesting, is the #1 mortality now is pneumonia and aspiration pneumonia. I’ve seen that very vividly throughout the past 10 years. So many of our patients that have passed away has been from aspiration pneumonia. Because of that, we try to do things like swallowing studies. We’re very careful about what types of consistencies of food people can eat knowing that this can be a problem. We also know that the immune system is altered so any type of pneumonia can cause much more of a problem than it would in the general population.

Dr. Vellody: That really is quite a jump in life expectancy in a relatively short period of time. I’ve heard you say that a similar jump in our life expectancies in the same time period would have us living past 300! However, now that we are seeing people with Down syndrome live longer, we are also seeing new issues related to aging. The one that we hear a lot about is Alzheimer disease, and I know that’s one of your special interests. Could you talk a little bit about that?

Dr. Bulova: Oh sure, happy to. Alzheimer has been linked to Down syndrome for a couple reasons. Everyone with Down syndrome, by the age of about 40, starts to develop the plaques and tangles that you see in the general population. Now, that doesn’t always translate to having Alzheimer, but the pathology is there. Many of the early studies that showed that there were very high incidences of Alzheimer, were done in institutions that showed that people had significant cognitive problems. It’s quite likely some of those were at baseline. I think we greatly overestimated the incidence of Alzheimer. We do know that 21st chromosome carries the amyloid gene. Because of that, there is a significant link, but it’s not nearly as high as it’s been considered in the past. I heard numbers of 75-100% of people would develop Alzheimer. Now, looking at the data, it seems that the rule of thumb that I use is that there’s almost no cases before age 40. I see about 10% between age 40 and 50, about 20% between 50 and 60, and then it can be as high as 40% after age 60.

Dr. Vellody: I remember reading my medical school textbook in the late 1990s, and they were still quoting a 100% chance of Alzheimer disease in people with Down syndrome even then. I’m glad we’ve moved forward in our understanding. Now, you are involved in a research study to learn more about Alzheimer and Down syndrome. Could you explain the study to our listeners?

Dr. Bulova: The study that we’re working on now is utilizing something called the Pittsburgh protein. It is a marker that binds to the plaques and tangles that are found in Alzheimer. What’s nice about it is that you can make a diagnosis of Alzheimer’s without having to do a brain biopsy which we never want to do. At this point, whenever we make a diagnosis of Alzheimer, it’s using our clinical judgment. It’s very easy to be incorrect when we’re talking about clinical judgment so it would be wonderful to make a diagnosis that’s not invasive but is much more definitive by having some sort of a test. The study that we’re doing now is finding people that are over the age of 30 to see if they’ve started to develop some of the plaques and tangles, measure how much of the Pittsburgh protein is taken up, and that will help us hopefully to know who it is that will develop Alzheimer.

Dr. Vellody: It would be great to be able to make a clearer diagnosis, and I’m glad that Pittsburgh is involved with helping that happen. So, once the diagnosis of Alzheimer disease is made, could you tell us what happens next?

Dr. Bulova: Sure. In the general population, the first step is usually medications. They have not been particularly beneficial. Until just a year or two ago, none of them had been tested on people with Down syndrome. There is one trial called the Meadows trial that was funded by the drug company that makes memantine which is Namenda. It was found in about 150 patients with no benefit in terms of treatment for dementia or prevention of dementia. It is the first large trial that I’ve ever seen using the medication. Because of this, I don’t recommend using medications. In this case, it wasn’t anything detrimental to their health, but there are no other trials that show significant benefit in treating dementia using any other medications. Instead the recommendations are what helps anyone with Alzheimer which is having a very consistent schedule, having good strong support systems. These things tend to be very helpful. Those patients that have Alzheimer tend to do better in a very structured environment. That’s what we support the most.

Dr. Vellody: That’s good to know. I hope future drug trials will find something that works. Now, you and I both remember learning about Down syndrome in medical school. We learned all about the negatives but not much about anything positive. Could you share some of the medical benefits of having the extra chromosome?

Dr. Bulova: I think this is a great question, something that I really like to talk about. As you said, many people don’t talk about the positives, and they really focus on the negatives. There are several positives, both medical and social. The most interesting ones, I think, are probably medical. Almost all the patients that I see have very well controlled blood pressures and very low pulses. I don’t have any patients that have long-standing high blood pressure whereas when I think about the general patients that I see, so many of them have high blood pressure. I don’t have anyone with Down syndrome in that situation. We don’t know exactly why that is but it seems to be one of the benefits. What goes right along with that is a very low risk of heart attacks. I still haven’t seen a single heart attack in the time that I’ve been working with adults. That’s something that is reproduced in adult clinics all around the country. The other one is that many people think about a higher risk of cancer in people that have Down syndrome. What we find is that most of the risks are very early in childhood. Once the people reach the age of about 20, most of the high risk problems . . . all the risks start to drop. We talk about leukemia being a very high risk but 90% of the cases are before age 20. I’ve only seen a single case that’s occurred that’s after age 20. All of the cancers that I worry about as an internist (lung cancer, colon cancer, prostate cancer) are at much lower risk than in the general population. These are things that we didn’t know much about before. Now that we’re seeing so many more adults, and they’re aging in a healthier way, we’re noticing that these are distinctively absent.

Dr. Vellody: That is really amazing. Does this apply to all types of cancers or are there any that happen with increased frequency in adults with Down syndrome?

Dr. Bulova: Yes, I would want to mention that testicular cancer is somewhat of a higher risk than the general population though it is still quite low. In women, ovarian cancer is also slightly higher. These increases are definitely outweighed by the much lower incidences of other much more common cancers.

Dr. Vellody: Yes, this is why I encourage families of teenagers to have their kids learn how to do testicular self exams if they are able. Routine gynecologic care for the women is also important. Okay, now let me conclude with one final question. You mentioned earlier about some other skills that people with Down syndrome tend to have. Could you give us one example?

Dr. Bulova: Yes. Some of the memory skills are pretty amazing. What I’ve seen in adults with Down syndrome is that they can often recall an event that happened 5-10 years before and easily go right back into that moment and remember exactly how they felt at that time. They have wonderful memories for faces and people. I know of families that always make sure that the person with Down syndrome in their family is with them when they meet distant relatives because then they remember them better than anyone else in the family. I think that emotional memory is the one that’s truly remarkable and really amazing to see.

Dr. Vellody: I agree. My brother has always been able to remember the most embarrassing things about my childhood and relay that back to anyone who asks! Well, Peter, that ends the time for our podcast today. Thank you for being here with us today.

Dr. Bulova: Oh, thank you so much for giving me the chance to talk with you.

Dr. Vellody: Well, thanks for all you do for our patients. It makes transitioning them so much easier knowing that you’re taking over. Okay, thank you listeners for your attention today. We’ll look forward to sharing another podcast with you soon! Until then, bye bye.

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