Reprinted from 3.21: Canada's Down Syndrome Magazine (Issue #3: The Health Issue). Click here to download the full magazine.
This interview is adapted from Dr. Brian Chicoine’s April 29, 2020 appearance on The LowDown: A Down Syndrome Podcast, produced by the Down Syndrome Resource Foundation. Dr. Chicoine, Medical Director at the Adult Down Syndrome Center just outside Chicago, has provided medical care for adults with developmental disabilities for more than 30 years and has written extensively on caring for adults with Down syndrome. In addition to his duties at the Adult Down Syndrome Center, Dr. Chicoine serves as a faculty member at the Family Medicine Residency Program at Advocate Lutheran General Hospital.
Our interview with Dr. Chicoine touched on several topics related to optimizing the physical and mental health of adults with Down syndrome. In this lightly edited excerpt, we delve into issues surrounding mental health, aging, dementia and Alzheimer’s.
3.21: Dr. Chicoine, can you tell us a little bit more about yourself and your professional journey?
Dr. Chicoine: I’m a family physician by training. I trained here at The Advocate Lutheran General, and then I practiced in a small town in the northwest corner of Illinois. Two 16-bed residential facilities for people with intellectual disabilities, including several people with Down syndrome opened while I was there, and I became their Medical Director.
When I came back to join the faculty here at the hospital, a local parent group came to the hospital asking us to start a clinic for adults with Down syndrome. I had the most experience, having worked with those 32 people in the residential facilities. So, I eagerly grabbed that opportunity and we started two mornings a month, but it has become a full-time operation. We now have two physicians and a nurse practitioner, and we have seen over 6,000 adolescents and adults with Down syndrome since we opened in 1992. We have about 7,000 patients encounters a year. It is a busy place!
3.21: Through these experiences, you have become one of the world's leading experts on medical issues for individuals with Down syndrome, and particularly adults with Down syndrome. What is it about this population that made you want to specialize in it?
Dr. Chicoine: It’s just a wonderful group of people, which makes the day a lot of fun. The thing that has been so interesting is that life expectancy for people with Down syndrome, when I graduated from medical school, was less than 30. Now it's about 60. It has been a very interesting opportunity to participate in helping a population double their life expectancy in the course of my career. I don't know how many providers have the opportunity to participate in such an incredible change in a relatively short period of time for the patients they serve.
3.21: One area that has been receiving increased attention is mental health care for adults with Down syndrome and other disabilities. Why do you think this area has been neglected for so long?
Dr. Chicoine: Well, I think probably for two reasons. Firstly, I think I think it has been undertreated and underappreciated in all of us across the board. People with Down syndrome then just sort of get lumped into that lack of treatment, if you will, that so many people have experienced over the years.
The second is more specific for people with Down syndrome. I think there is a lack of understanding. One thing that is very different is that, because of communication obstacles, physical health problems and pain, that someone cannot express verbally, end up being displayed in a behavioural or mental health fashion. If you don't appreciate that and just sort of treat it as a behavioural or mental health issue without going back to evaluate for the underlying physical health issue, you're not only going to miss a lot of things, which is unfortunate, but you're also much less likely to have success in treating the mental health or behavioural issues. If someone is having pain from something that is causing them to have a behavioural change, and you just treat the behavioural change without addressing the underlying painful issue, you’re not likely to be successful.
3.21: We have seen this with some our adults where they tend to internalize that feeling of depression or anxiety. Outwardly it seems like they are functioning fine, but it is just all so internalized, and they have no way of really expressing what they are feeling.
Dr. Chicoine: I would agree. Our sense is, even those folks that have good verbal skills may have difficulty verbalizing mental health stress. Actually, in some ways, it’s the people with good verbal skills that get in the most trouble, because we anticipate that they would be able to tell us if something is wrong, but they're actually not able to do so because they don’t have the language for it. So, they get overlooked.
3.21: What should a parent or family member to do if they are noticing something that they think is a mental health related change?
Dr. Chicoine: First and most important, take your son or daughter to your primary care physician and have them checked for the medical issues. It is important to particularly consider the health issues that are more common in people with Down syndrome. These include things like thyroid problems, sleep apnea, celiac disease and more. These issues affect how people feel physically, which ultimately can affect how they feel mentally as well, or how they display mentally. It's helpful to have a provider that has some experience with people with Down syndrome, to make sure that we're looking at those underlying issues and not just treating the mental health piece, but also been addressing physical problems as well.
Second, you want to look at what is going on around the person, socially and environmentally, that may have a detrimental impact upon mental health. I suspect that, perhaps because of their very strong memories, people with Down syndrome may be a little more susceptible to some post-traumatic stress issues because they have such strong visual memories of things that have happened. But the problem is, we often do not understand what the trauma was. We tend to think of PTSD as being tied to things like war or a horrific car accident. But trauma is really in the eye of the beholder. So, what I may think is stressful, you may not and what you do, I may not – and that is true for individuals with Down syndrome as well. So, we want to see if it could be something in school, or something at work.
We also need to consider sensory issues. For a long time, we thought of sensory issues as something you either had or did not have. In reality, it’s probably a bell curve like most things in life. Most of us are somewhere in the middle, and people with Down syndrome can be in the middle or at one end or the other. And I think there are some sensory issues that do contribute to some of the behavioural changes. There are some sensory strategies that would benefit people even if they don't have extreme sensory issues, just to help them relax and get through tough situations.
3.21: As adults with Down syndrome move into their forties and beyond, we unfortunately continue to see a high incidence of early onset Alzheimer's and dementia. What can families do when their loved one with Down syndrome is younger in order to try to prevent this or at least slow down the onset?
Dr. Chicoine: Unfortunately, we still have limited information on that. We know that for people with Down syndrome, as well as the general population, exercise is important in helping either prevent it or slow it down. There is some discussion about whether insulin resistance related to being overweight contributes to Alzheimer's disease. I don’t think we have a final answer on that yet. But there are lots of good reasons to be physically active, eat healthy and try to stay at a good, healthy weight. If there’s a possible benefit to reducing or preventing Alzheimer's disease, that’s an added bonus.
There's a relationship between sleep apnea and Alzheimer's disease, so certainly we want to make sure people are getting tested for that condition. If you notice that a person’s ability to function or mental health is changing, look at getting a sleep study.
3.21: At DSRF, we are telling parents that their kids need to get tested at a young age because it can be very difficult to get compliance with the CPAP mask as they get older. Getting them accustomed to using the mask is tricky, so if you can start earlier it makes a big difference.
Dr. Chicoine: Absolutely. Also, I hear a lot of concern that this person could never comply with a study or use a CPAP. I would encourage people not to give up until it has been tried, because we do have a lot of people where we think “this will never happen,” and then they do it.
3:21: In our experience, almost all our clients who get referred for a polysomnogram end up getting diagnosed with sleep apnea – and often quite severe.
Dr. Chicoine: It's not known to be 100% among people with Down syndrome, but it's pretty high. And it is not always connected to weight problems. Certainly, obesity increases your chance of developing it, but a lot of folks with Down syndrome who are a good, normal weight still have sleep apnea.
3.21: From time to time, we read exciting reports of research around dementia. Can you tell us what progress is being made in identifying why so many people with Down syndrome develop dementia relatively early and some of the efforts that are being made to address this issue?
Dr. Chicoine: We do see that Alzheimer's disease does occur at a younger age and more frequently in people with Down syndrome. The APP gene is on chromosome 21, and it is thought that because people with Down syndrome have three copies of chromosome 21, there is more of this gene expression. This seems to contribute earlier and more frequent Alzheimer's disease. There is a lot of ongoing work looking at what the effect of this gene is, along with other related issues.
As far as potential treatments go, I'm an Edison guy: we've had a lot of failed attempts, and we're really just looking for that one (or more) that works. But ultimately, it probably won't be just one drug or treatment that brings it under control. I suspect, like a lot of other conditions, that there may be a cocktail of things that we take or do to deal with it.
When I was in medical school, we first started to hear about AIDS and HIV, and at that time it was a terminal illness right from the beginning. Now it is treated very much like a chronic disease, almost like you would treat hypertension or high blood pressure. There is a cocktail of medications and healthy activities that patients can take or do to address it. My hope is that we will see something similar where people with Down syndrome or Alzheimer's in general may be able to take something and do things to manage it. Or it may be something that can be taken or done at a young age to prevent it from becoming a problem, perhaps in the twenties to forties when the brain is beginning to develop these plaques and tangles. There could be medications that people take at that time to kind of clear that out, if you will.
Some people think that with regards to the ultimate cure for Alzheimer's, or the control of Alzheimer's disease, some significant breakthroughs will come through studying people with Down syndrome. Some researchers are studying Alzheimer's disease in people with Down syndrome for the benefit of the general population, and, to me, that is okay. Ultimately, people with Down syndrome are going to be well served by this.
3.21: Is there a relationship between the buildup of plaques and tangles in the brain and sleep quality?
Dr. Chicoine: This has not yet been definitively proven, but it does seem there may be a link. The chronic oxygen deprivation or low oxygen levels that are seen in people with sleep apnea certainly could be a contributor. Our brains need to have a regular eight-hour sleep cycle with REM sleep and non-REM sleep. And if we don't have that, our brain does not get the restoration that it needs. Ultimately, good sleep is like healthy eating and exercise: there are many good things that come from good sleep. If it happens to be that it also helps prevent Alzheimer's, that is an extra plus.
3.21: We can start to see some of these symptoms of early onset Alzheimer's and dementia in adults with Down syndrome when they are in their thirties and forties, and this population does age at an accelerated rate. Could you explain why these symptoms come on so early for them?
Dr. Chicoine: The onset of symptoms before 40 is actually thought to be fairly uncommon. The youngest person we have diagnosed with Alzheimer's was 38. The average age of onset of symptoms is about 54, and it is often later than that. But the thing with Alzheimer's disease is that the changes in the brain start occurring long before the symptoms present themselves. Some studies have found people with Down syndrome, even in their twenties and certainly in their thirties, who already have some of the changes in the brain. That is not unique to Down syndrome; all people can have the changes in the brain long before they actually begin exhibiting the symptoms. But the timeline is shifted to younger ages in people with Down syndrome.
3.21: In recent years, life expectancy for individuals of Down syndrome has increased dramatically. What needs to happen to continue this trend – and not just to help people live longer, but live longer with good health and a good quality of life?
Dr. Chicoine: I had a great uncle that had Down syndrome. He was born in 1907 and he lived to be about 40, which was very unusual in those days. His life expectancy when he was born was only nine. When I graduated from medical school in 1984, life expectancy was about 28. Now it is about 60. That is a dramatic change. If the rest of us had increased by the same percentage, we would all be living to be about 350.
Unfortunately, it does seem to be plateauing around 60 at this point, and Alzheimer's disease is the big issue that is causing that. So, the next big step is to figure out how can we prevent and treat Alzheimer's disease successfully. That should have a significant benefit for people with Down syndrome.
3.21: From a parent's perspective, that's kind of hard news to hear, because we do not yet have that cocktail of drugs that would help see adults through it. But in terms of what is within the control of individuals with Down syndrome and their families, it sounds like just the regular preventative health measures that all adults, with Down syndrome or not, should be doing: exercising, eating well and sleeping well. Is that really all that families can control?
Dr. Chicoine: I think at this point, those are the things that we know. The other thing I would encourage people to consider is participating in a research study. There are more and more of these studies being done around the world, including Canada. I would consider participating in a study because the more we can learn about this, the better chance we have of preventing and treating it.
For years, I looked at it like, this is a whole chromosome. This is going to be such a such a huge problem to try to fix an entire chromosome. But now researchers have narrowed it down to certain likely genes; maybe it is multiple genes, but it's no longer the whole chromosome. It is certainly not going to be easy, but we’re getting closer.