Calif. — When Ruth Russi was born with Down syndrome in
1959, her parents were told she would die before her fifth
birthday. By the time Ruth turned 50, John and June Russi of
Costa Mesa, Calif., began to prepare for her outliving them.
she aged, Ruth’s behavior changed. She would stare at her
crayons, unable to color, or walk out of church still
clutching a dollar bill for the offering.
85, and June, 79, were devastated to learn that Alzheimer’s
disease, a condition they worried about for themselves, had
inhabited their daughter’s brain. Ruth died last fall, a
week before her 56th birthday.
always been able to make her happy one way or another,"
John Russi said. "At the end we couldn’t make her
happy. That hurt."
with Down syndrome are not only more susceptible to Alzheimer’s,
but they experience onset at younger ages. Longer lifespans
are creating caregiving burdens for families like the Russis
and driving more research into the genetic connection between
the developmental disorder and degenerative brain disease.
Irvine has received $4.7 million from the National Institute
on Aging to launch a five-year study this summer aimed at
identifying who with Down syndrome is most at risk for
think the urgency in part reflects the urgency of Alzheimer’s
research," said Dr. Ira Lott, a pediatric neurologist and
lead researcher. "Alzheimer’s is a tremendous national
problem. Many people with Down syndrome live productive and
happy lives. To have that cut off prematurely by Alzheimer’s
disease is a tragedy that we’re trying to prevent."
findings could result in better treatment options and yield
discoveries that would also benefit the general population.
we can shine a light on any aspect of this disease, that is
massively important," said Jim McAleer, CEO of Alzheimer’s
Orange County. "It’s vitally important for those people
and their families that we learn how to treat this disease and
cure it in that population. Science might learn more about the
disease because of the genetic difference in that population.
I think it actually can move science forward."
with Down syndrome are born with an extra copy of chromosome
21, which causes intellectual disability and a distinct facial
appearance. Chromosome 21 also carries a gene that produces a
protein that forms the plaques in the brain that increase the
risk of Alzheimer’s.
triplication of the chromosome appears to prime the brain for
Alzheimer’s, with autopsies showing that most people with
Down syndrome have the neuropathological indicators of the
disease by age 40.
despite those structural changes, not everyone exhibits
do some with Down syndrome become demented and some don’t?"
Lott said of his research focus. "We think this is not
only important for Down syndrome but for understanding
hopes to discover what biomarkers predict who will develop
dementia so treatment can be introduced early, particularly as
new therapies become available. He’s recruiting 100
volunteers with Down syndrome, over age 40, to undergo
cognitive and memory tests, brain scans, blood work and
testing of spinal fluid.
of the biology of Down syndrome, there’s a special window
here for understanding the process of Alzheimer’s
disease," Lott said.
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Fobes, 45, of Newport Beach, Calif., plans to volunteer for
Lott’s study after losing two childhood friends to Alzheimer’s
as well as his maternal grandmother. He doesn’t mind giving
blood or remaining still in a confined imaging machine.
just like being a part of it," he said. "I do know
my Grandma had dementia. A lot of European elderly have
Jeanne Fobes, responded, "That’s why you’re doing it,
Gerard. You gotta get a cure for us before we get it."
who works every Saturday at Ralphs, starred in Garth Brooks’
1993 music video "Standing Outside the Fire." He
loves researching academic topics on his computer and
volunteering with his dad at a local food bank.
Fobes, 84, said she believes her son will be particularly
useful to researchers because of his intelligence.
a whole lot of intriguing stuff going on with Gerard,"
she said. "He remembers everything he has researched. He’s
just very bright."
who has worked with Fobes in past Down syndrome research
projects, said it’s unknown whether high intelligence could
lend some protection against Alzheimer’s.
better, I think overall, to be on the higher functioning side
because you probably have a bit more of a brain reserve,"
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adults with Down syndrome, the earliest signs of Alzheimer’s
may look different because their intellectual disability can
at times mask memory loss. They may experience behavior or
mood changes, as well as difficulty walking.
they have a personality change," Lott said. "People
with Down syndrome are typically very outgoing and socially
motivated. They lose this interest. They also develop problems
with their memory, which are pretty similar to Alzheimer’s
in the general population."
patients express frustration that they can’t think as well
as they used to. They also often become very depressed after a
friend or roommate dies of Alzheimer’s.
understand the loss but they don’t really understand the
process," Lott said of the disease.
said Alzheimer’s puts a tremendous burden on parents who are
often older to begin with because the prevalence of Down
syndrome is higher for children whose mothers give birth after
Ruth, the oldest of three, Alzheimer’s eventually stole her
cheerful disposition and enjoyment of the simple pleasures in
life. Her favorite place was Disneyland, where she would ask
to ride It’s a Small World over and over again.
things she liked made her really happy and joyous," John
Russi recalled. "You don’t see it in a normal person.
Nobody smiles all the time and she did."
her illness progressed she lost her limited vocabulary, even
her favorite word, bird. She could no longer live in her group
home and moved to a long-term care facility. She stopped
erupting in excitement when she saw her parents and would
ignore them when they visited.
she died, her parents donated her brain to UCI.
Lott said her brain will be used for years to come," June
Russi said. "We wanted to help research. She didn’t
need it anymore."
more about the UCI Down Syndrome Program please contact Eric
Doran at 714-456-8443 or