New hope for those living with Alzheimer’s disease?

Alzheimer’s disease affects about 50 percent of individuals with Down syndrome in their 60s, according to the National Down Syndrome Society.

Between ages 20 and 40, many people living with Down syndrome experience changes in the brain that could indicate Alzheimer’s disease, though symptoms are rarely present. By age 40, nearly all those living with Down syndrome experience these changes, with some beginning to present symptoms of the disease. By age 50, studies show that all people with Down syndrome have these changes in the brain. The average age of onset of symptoms for Alzheimer’s disease in people living with Down syndrome is 53. Now, the link between Down syndrome and Alzheimer’s is being studied further, with new research recently shared by the Trisomy 21 Research Society.

Much research has been done to discover the connection between Alzheimer’s and Down syndrome. Some scientists believe that the connection might be due to the extra copy of chromosome 21, which those with Down syndrome are born with, because this extra chromosome carries the APP gene. This gene produces a protein called amyloid precursor protein (APP). When this protein builds up in the brain, it forms beta-amyloid plaques, which have been found to increase one’s risk of developing Alzheimer’s dementia.

The research shared by Trisomy 21 Research Society included the first two studies that analyzed specific biomarkers, measurable substances indicative of a disease, infection, or environmental exposure and cerebrospinal fluid.

“Understanding biomarkers is an important step in being able to make a definitive diagnosis of Alzheimer’s disease in people with Down syndrome,” says Dr. Brian Chicoine, medical director of the Advocate Medical Group Adult Down Syndrome Center located on the Lutheran General Hospital campus in Park Ridge, Ill. “It is challenging to make a definitive diagnosis of Alzheimer’s disease with the neuropsychological tests available because the testing is not as effective or accurate in people with Down syndrome as it is in people without Down syndrome.”

The first study looked specifically at a blood-based biomarker called neurofilament light (NF-L). The second looked at other blood-based biomarkers and cerebrospinal fluid biomarkers. The studies measured NF-L, and it was determined to be a reliable biomarker for neurodegeneration, which is the deterioration of the nervous system in people living with Down syndrome, most often caused by Alzheimer’s disease. There is no test commercially available at this time for the NF-L biomarker, but Dr. Chicoine is hopeful this research will lead to a greater understanding of Alzheimer’s in people living with Down syndrome and ways to prevent or treat the disease.

“Hopefully this research will lead to additional findings—biomarkers that rise or change with the development of the changes in the brain long before symptoms present. That could help in understanding and preventing the changes in the brain from occurring at all. If one could provide an intervention and demonstrate the biomarkers are not rising, that may be a key to understanding prevention,” he says.

Dr. Chicoine says more research needs to be conducted, but that the studies that have been done so far could have a positive impact on all those living with Alzheimer’s.

“Some researchers believe because of the universal nature of the changes in the brain in people with Down syndrome, improving our understanding of Alzheimer’s disease in people with Down syndrome will not only benefit these individuals, but will benefit people without Down syndrome, as well,” says Dr. Chicoine.

October is National Down Syndrome Awareness Month. To learn more about the work the Advocate Medical Group Adult Down Syndrome Center is doing this month and throughout the year, click here. The Junior Board of Advocate Lutheran General Hospital is hosting their annual Eat, Drink & Be Charitable fundraising event on October 13, with proceeds benefiting the Adult Down Syndrome Center. Click here to register.