Janet Chartzuk knows that having Down syndrome means she is at a higher risk of developing Alzheimer's at a younger age than the average person.
“That's something I sometimes worry about,” she said in an interview from her home in Alberton, Pay.
But she does everything she can to prevent it.
“Your diet, your sleep, exercise,” said Scharchuk.
“I'm friends (having) and social, and I'm doing brain exercises.”
Her favorite brain exercise is word search. She also remains physically active and social, works at an equestrian therapy farm, competes at the Special Olympics and serves on the advocacy group Down Syndrome.
At 42 years old, Charchuk is one of those people with Down syndrome who live well into adulthood. A recent study estimates that as of 2020 there were 22,367 people with developmental disorders in Canada.
In Canada, “the average life expectancy for people with Down syndrome is about 60 years old,” says Dr. Brian Skotoko, a senior author of the study, published earlier this year in Genetics in Medicine in Medicine.
This is a marked increase from the average life expectancy of about 53 years in 1970. In 1950, there was an estimated 5,138 people with Down syndrome in Canada, most died as children at an average age of four. Less than 1% survived to age 40 or older.
Still, life expectancy for 60 years is far below the 82-year average in Canada.
For people with Down syndrome, “There's one big culprit who's getting in the way, that's Alzheimer's,” Skotoko said.
“The biggest cause of death in adults with Down syndrome is complications associated with Alzheimer's,” he said.
People with Down syndrome have extra copies of chromosome 21, which is also a chromosome associated with amyloid plaques associated with Alzheimer's disease, Skotoko said.
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The study is the latest in a series of country-specific efforts led by Skotoko, director of the Down Syndrome Program at Massachusetts General Hospital in Boston, to obtain the most accurate estimates of Down Syndrome populations, including the US, Australia, New Zealand and Europe.
“People with Down syndrome need to have an accurate accounting for that number if they want to have the voice and the right policies, the right information and support,” Skotko said.
Laura Lachance, a study co-author and executive director of the Down Syndrome Association, said it involves understanding that people with disabilities are adults and the various medical, financial and social support they need to help them live as long as possible.
“The system still treats Down syndrome as a pediatric, child issues, as individuals with Down syndrome have not lived long historically,” she said.
It “is not up to date with support, routes or comprehensive strategies tailored to adults with Down syndrome,” she said.
But some doctors and supporters hope to change that. One big step is to educate more primary care providers not only on links to Alzheimer's disease, but also on screening other conditions including adults with Down syndrome, such as cardiovascular risk, hypothyroidism, and sleep apnea.
“Adults with Down syndrome may not be able to clearly communicate their symptoms or visit their doctor early. Therefore, preventive care is extremely important, otherwise they will miss those diagnoses,” said Heidi Deepstra, lead of the Developmental Disorder Primary Care Program at Surry Place, Toronto.
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Although annual health testing is no longer recommended for the general population of some provinces, it is essential for people with Down syndrome, says Diepstra, who helped Canadian university doctors develop a specific Down syndrome “healthwatch” checklist posted online.
Primary care providers can help you avoid “overshading of the diagnosis” using checklists. Clinicians look at the patient's symptoms, but instead of further researching to find the underlying condition, such as depression or hypothyroidism, they assume they are part of Down syndrome.
The checklist was first developed in 2011 and is expected to be revised by Surry Place.
“Anecdotally,” they know that some major healthcare providers use it, but she said it needs to be incorporated into medical practice more widely to meet the needs of Down syndrome patients.
“[We]know from our research data that health disparities continue to exist in people with IDD (intellectual and developmental disorders),” Diepstra said.
“This means we need to do more to increase awareness and uptake of these tools with Canadian healthcare providers.”
Dr. Liz Greer, family physician and medical director at Onswanada Developmental Services in Kingston, Ontario, said both physical and emotional care for adults with Down syndrome has improved over the years.
“I'm involved in supporting both healthcare and social services in terms of programming and other activities on attractive days,” she said.
However, Greer also believes that care for people with Down syndrome will improve further and lead to longer life expectancy.
She said that people with Down syndrome can be screened and treated early because it is important for family members and caregivers to monitor both physical and mental health symptoms, as well as primary care providers.
Even the high risk of Alzheimer's disease can be managed to some extent, Greer said.
Taking enough vitamin B12 and treating sleep apnea is a medical intervention that can help both, she said.
Living a “fulfilling and attractive” life by supporting people with Down syndrome is also essential to helping to stem dementia, Greer said.
“Continue to stimulate your brain, keep your brain healthy with the right vitamins and nutrients you need, and stay active in terms of physical health. All of these fragments contribute,” she said.