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In a new study, Vanderbilt will look at Alzheimer’s disease in those with Down Syndrome

March 21 is World Down Syndrome Day
Posted at 5:10 PM, Mar 21, 2023
and last updated 2023-03-21 20:19:48-04

NASHVILLE, Tenn. (WTVF) — Today marks the annual World Down Syndrome Day. Every year, 6,000 babies are born with Down Syndrome in the U.S., making it the most common chromosomal disorder.

After she was about 15 weeks pregnant, Anne-Marie Clark said she learned her daughter Annabel had Down Syndrome.

"I think when you have a child with special needs it just makes you a more sensitive, caring, compassionate person," said Clark.

Annabel is now 10 years old and thriving.

Anne-Marie said this World Down Syndrome Day is an opportunity to celebrate the special abilities and gifts of people like Annabel.

"We just want to spread awareness that Down Syndrome is not a bad diagnosis," she said. "It's a wonderful diagnosis, and I wouldn't trade it for anything."

It comes as Vanderbilt University Medical Center is recruiting adults with Down Syndrome to conduct a new study.

"So by the time they reach the age of 45 or 50, many of them are suffering from Alzheimer's disease," said Dr. Paul Newhouse, director of the Center for Cognitive Medicine in the Department of Psychiatry at VUMC.

He said the extra chromosome present in those with Down Syndrome is also where the gene for the Alzheimer's protein lives, known as amyloid.

The study is looking at early detection and prevention of the protein.

"Can we remove this abnormal protein and prevent the development of the disease?" he asked.

Newhouse hopes answering that question could lead to breakthroughs in early intervention.

"There's this gap of care when you age out of pediatrics and then you transition into adult care. A lot of adult doctors and nurse practitioners —they're not really that informed about what Down Syndrome is," said Clark.

She said science has come a long way, but admits there's more to go.

Still, on this World Down Syndrome Day, she's celebrating how far Annabel has come and everything she has left to do.

"We have expectations that she'll do anything she wants to do," she said. "The sky's the limit for her."

If you are interested in participating in VUMC's study,click here.


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