myDSC Webinar Series – Alzheimer’s Disease and Down Syndrome: What you Need to Know from Diagnosis to Living Well

Questions and Answers from Webinar

MODERATOR: You mentioned a couple of times the risk of over-diagnosis and how should someone deal with that if they’re faced with a diagnosis of dementia or Alzheimer’s disease and they suspect maybe it might be something else or should they always seek out a second opinion? How do you deal with that potential?

GALBIER: When we started this out 10-12 years ago working with the developmental disabilities provider system, we actually had thought the opposite. And we still believe the opposite. We believe that a lot of the behavioral challenges that providers and family members are seeing, they may not necessarily identify it as an Alzheimer’s type of an issue. They might be identifying it strictly as a behavioral issue.

On the other hand, because now there is so much more information out there about Down Syndrome and its relationship to Alzheimer’s disease, I think in a way the marketplace has maybe swung a little bit too far to the other direction. So, that’s why taking a baseline at 35 is critical. If we’re already past that age group, trusted physicians can be incredibly helpful because if someone has gone to that physician for a very long time, they know that person. And so when you bring the notebook of some of the things you’re seeing that are very, very unusual, hopefully that physician will look at that, but they will also do the medical workup. And so what we would ask of family members, just be very strong advocates, as you’ve always been with any other type of thing with your loved one. Really encourage that physician to take a hard look at the fact are there other medical issues going on. Is there a fever, is there any kind of pain that the person might be having for some unknown reason, because those are the types of things that could translate into some behavioral challenges. If, in fact, you are seeing some of the signs and symptoms, that in and of itself might tell you that perhaps it’s not a journey of Alzheimer’s disease.

But what we would really encourage is that our families go to the clinics. Go to specialty clinics. There are Alzheimer’s disease clinics in most major cities in the country. Many of the Alzheimer’s disease clinics do have doctors who understand Down syndrome and dementia, and so seek those out. If you don’t know where to turn or you don’t believe there are any, contact the Alzheimer’s Association. We can help to refer you to services. If the services don’t exist in your community, just continue to encourage the medical community to take a really hard look. Make sure the care teams are tracking on a very regular basis the type of behaviors that they’re seeing, some of the warning signs that they’re seeing.

It takes a really holistic view to do that because we actually have seen where a doctor will reverse the diagnosis because the care teams and the loved ones did press to really do the proper diagnostic techniques, and then they ruled it out because of other types of things or maybe it was a temporary situation and they weren’t seeing the signs and symptoms anymore. So, it’s a challenge, but I would encourage any family members to call the Association and we can actually help walk them through what we would recommend that they do.

There is a book that we co-produced called Alzheimer’s Disease in Down Syndrome: A Practical Guidebook for Caregivers that was produced by the Association and the National Down Syndrome Society in partnership with the National Task Group. That is an incredibly useful guide, and that can tell you a little bit more about the some of the Down Syndrome scales that are out there and some of the ways to advocate for your loved ones as well. The Association is very good at helping families to ask the right questions of the medical community, to hold them accountable for the diagnostic techniques that they’re supposed to be employing.

MODERATOR (JIM): You mentioned how you do try to encourage and support people so that they can age in place, but if that becomes too difficult for families, are there memory care facilities that are focused on people with Down Syndrome and Alzheimer Disease?

GALBIER: It depends on the community. So, in our community, there are no memory care programs specific for IDD or Down Syndrome populations. The long-term care industry in our community does accept folks who are in the later stages of the disease regardless of whether they have IDD or Down Syndrome or any type of a medical issue. That’s driven by the PRI [patient review instrument?], the clinical tool that’s used by the nursing community to determine medical care.

That being said, there are developmental disabilities providers in different communities that have specialty residential programs with people with dementia, it’s for aging and with dementia. So, it depends on the community that you’re in. Beth, do you have any additional thoughts?

KALLMYER: I think one of the most important things I would tell families to do is do your homework well in advance. Even if you think you’re going to try and keep your son or daughter or family member at home, you can really empower yourself by knowing what resources are available in your community. Because sometimes things happen beyond our control or a condition changes so much that it’s impossible to keep the person safe at home, and you want to know is there an assisted living that will work with my family member and go and ask them questions and be real honest with them. If you do that ahead of time when you’re not in a crisis, then you can have that in your back pocket and know where you would want to proceed if you get to that kind of place. That kind of preparation we recommend to all families, to do ahead of time. And most of us don’t do it ahead of time and then your choices are fewer. When you are trying to make a plan or a decision in a crisis, your choices are always going to be fewer if you haven’t figured out what might be available to you in your community.

MODERATOR: How does Alzheimer’s with individuals with Down Syndrome differ from general regressing symptoms that some may encounter in their 20s?

So, regression is relatively rare, but I’ve heard from some of our Down Syndrome experts that there are cases of misdiagnosis where people who are young, in their 20s, had been diagnosed with Alzheimer’s disease where they have in fact had a regression. And two of the signs of regression would be 1) the age of the individual, of course. Someone in their 20s is probably too young to be experiencing Alzheimer’s disease. And also the speed with which the symptoms occur. Alzheimer’s disease tends to be a slowly progressive disease—the symptoms progress over many years. Regression tends to happen fairly quickly. And so I think that those are the two things to look out for. If a doctor tells you that your loved one in their 20s has Alzheimer’s disease, I would definitely get a second opinion on that.

Do you have anything to add to that?

KALLMYER: I think you handled that perfect.

MODERATOR: Another question: “Is there a correlation between an individual with Down Syndrome experiencing symptoms of Alzheimer’s if someone in their family has dealt with dementia?” So, I’m not sure if this is about genetics or just if you’re more sensitive to the symptoms.

KALLMYER: If someone living with Down Syndrome has Alzheimer’s in their family, does that make them more likely and I’m not sure if there’s research that shows one way or another on that.

MODERATOR: Yes, I haven’t seen that research either. From some of our clinicians with large Down Syndrome clinics that because of the earlier age of onset for people with Down Syndrome and Alzheimer’s disease is that there are families that, unfortunately, are dealing with a parent caregiver experiencing Alzheimer’s disease at the same time as their child with Down Syndrome is also experiencing Alzheimer’s disease, and that, to me, is incredibly tragic. I can’t even imagine the toll that would take on a family. And I think some of the things that Beth talked about in her intro and how to think about ways to maybe slow the progression of the disease applies to all of us and not just to people with Down Syndrome, because if you are a caregiver for somebody with Down Syndrome, you need to stay healthy and active as long as possible so that you can be there for your loved one.

So, there was a question, is there a room on Facebook Group dedicated to Down Syndrome and Alzheimer’s disease?

GALBIER: We do not. It’s a great suggestion and we might do that. We currently have a Facebook group that is for parents and caregivers of adults with Down Syndrome and there are many families in there who do have an adult child with Down Syndrome and Alzheimer’s. So, there’s not a specific group for that, but there are many families in there who are going through it. But it’s a good suggestion. I think we might consider starting a group.

MODERATOR: The Alzheimer’s Association has a great support group system, how can we expand this so that it’s more available to families of those with Down Syndrome?

KALLMYER: Teresa talked a lot about some of the services that are located in the Rochester area and I have to say that all the Alzheimer’s Association chapters across the country might not have specific programs like Teresa’s chapter does, but people that are caregivers for people living with Down Syndrome and dementia are absolutely welcome at all of the Alzheimer’s Association support groups. They are welcome to call our help line. I can’t promise the support group is going to consist of other parents or caregivers of people living with Alzheimer’s and Down Syndrome, but aside from the challenges certainly in diagnosing and the baseline, much of what happens as the disease progresses is similar and so when you’re talking caregiver-to-caregiver, we have support groups. We don’t typically separate them out for whether it’s a spouse or whether the caregiver is an adult child, sometimes there’s grandchildren that are the caregiver. So, everybody’s experience is a little bit different, but when they’re talking about the symptoms of the disease of Alzheimer’s, that support group can provide lots of support.

MODERATOR: Can new neuronal pathways be created with therapy in people with Down Syndrome and Alzheimer’s? Maybe that’s a question for me.

So, there are theories in place about cognitive stimulation—that is, learning new things and staying mentally active. In the general population, there is a theory called the Resilience Theory. This means that people with higher educational levels have lower rates of Alzheimer’s. What that means is most of us are educated in our childhood, yet that childhood experience impacts what happens to us as seniors and whether we get Alzheimer’s disease. The idea is that you create new neuronal pathways by learning new things and that allows you to have more resilience against disease when it comes. And there has been no strong data that I’ve seen with this hypothesis in Down Syndrome, but I’ve also not seen any evidence that it wouldn’t also apply to people with Down Syndrome. So, we encourage you to try to keep active mentally, emotionally, socially, all these things, and try to learn new things. I think the idea of getting busy in the kitchen, for example, with supervision, learning a new recipe or a new – trying something new every day is a good way of stimulating those pathways. So, it is a hypothesis, and one that I think has potential merit.