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AAN 2022 | Understanding Alzheimer’s disease in Down syndrome
Seth Keller, MD, American Academy of Developmental Medicine and Dentistry (AADMD), discusses early-onset Alzheimer’s disease in individuals with Down syndrome. Decades ago, individuals with Down syndrome had high infant mortality rates due to a lack of medical attention – but now, this population is living much longer. Consequently, as with all adults, it increases the chances of developing Alzheimer’s disease. Additionally, it is known that people with Down syndrome are at a very high risk of developing Alzheimer’s disease due to the extra chromosome 21, where the amyloid precursor protein (APP) gene, one of the known genetic links to younger onset dementia, is found. Indeed, it is thought that 60% of individuals with Down syndrome by age 60 are already developing Alzheimer’s disease. There is a need to bring awareness and attention to this for both the general population and neurologists alike since support for these individuals may differ. Considering there is a very high chance of all individuals with Down syndrome ultimately developing Alzheimer’s disease, there is a great need for greater inclusion of this population in studies and education. This interview took place at the American Academy of Neurology 2022 Congress in Seattle, WA.
Transcript (edited for clarity)
Of all the patient population there’s a lot of different types of developmental disabilities, would be people with Down syndrome. People with Down syndrome, who decades and decades and decades ago really weren’t living very long, even back like 50 years ago, a lot of them were dying early in childhood because there really wasn’t attention toward them. But now people with Down syndrome and a lot of other form of developmental disabilities are living longer and longer and longer...
Of all the patient population there’s a lot of different types of developmental disabilities, would be people with Down syndrome. People with Down syndrome, who decades and decades and decades ago really weren’t living very long, even back like 50 years ago, a lot of them were dying early in childhood because there really wasn’t attention toward them. But now people with Down syndrome and a lot of other form of developmental disabilities are living longer and longer and longer. And what we’re now seeing is that when people with Down syndrome are living in their 30s, 40s, 50s, and 60s, then all of a sudden they start showing signs of losing function. They start losing ability to concentrate, losing their memory, losing their abilities. And that’s really the beginning of what’s called early onset Alzheimer’s. People with Down syndrome have an extra chromosome 21. And that chromosome 21 leads to a buildup of this beta-amyloid plaque and the beta-amyloid plaque is the underlying pathology that causes Alzheimer’s.
And it’s often thought that 60% by age 60, 60% by age 60 are already developing Alzheimer’s disease. So they develop Alzheimer’s disease at probably such a high rate and might even be more as they get older. Not only are they getting it, but they often will have a rapid course of decline. And it’s a tragedy, not only they have Alzheimer’s, but they’ve been trying to live their whole lives of having good healthcare and good living their lives and getting support by their family. And all of a sudden they almost like hit a wall when they reach 40 or 50 or 60 when they are really are showing sign of decline.
So we want to bring awareness, attention that people with Down syndrome really need to have more awareness about the risk of Down syndrome getting Alzheimer’s disease and the general neurologists, or even more specialized neurologists, who wants to practice and care for say cognitive decline really knows how to assess them. How do they really do testing on them? How do they know they have Alzheimer’s? And then how do they know to support them as they’re beginning to show signs of decline? Which is different than how you might support somebody in a neuro-typical population who has Alzheimer’s that does not have Down syndrome.
So we really want to bring the awareness to the neurologists who really care for this patient population because now, especially with the therapeutics. And we’re all pleased, we’re also thrilled that there’s now the beginning of monoclonal antibodies and maybe other kind of therapeutics that might be able to help people with Alzheimer’s disease. But because it’s so prevalent in the Down syndrome population and they’re getting it, they’re all going to get it at some point, is the clock is ticking for most people. So we want to make sure that people with Down syndrome are included in research for Alzheimer’s, education about Alzheimer’s. We want to make sure that the community understands about this. The families understand about that. And then certainly the AAN and the work that they do and the work that we bring to them will also be part of that.