Alzheimer’s Disease in People With Down Syndrome FACT SHEET • The Connection Between Down Syndrome and Alzheimer’s Disease • Alzheimer’s Disease Learn Symptoms About • Down Syndrome and Alzheimer’s Research • Participating in Research • Finding More Resources eople with Down syndrome are living of people with Down syndrome will develop longer than ever before. Yet growing dementia due to Alzheimer’s as they age. P older can bring new health challenges, including Alzheimer’s disease. People with Down syndrome are born with an extra copy of chromosome 21, which carries a gene that produces a specific The Connection Between protein called amyloid precursor protein Down Syndrome and (APP). Too much APP protein leads to a buildup of protein clumps called beta- Alzheimer’s Disease amyloid plaques in the brain. The presence of beta-amyloid plaques is one of the Many but not all people with Down hallmarks of Alzheimer’s. By age 40, most syndrome develop Alzheimer’s disease — the people with Down syndrome have these most common cause of dementia — when plaques, along with other protein deposits, they get older. Alzheimer’s is an irreversible, called tau tangles, which cause problems progressive brain disorder that slowly with how brain cells function and increase destroys memory and thinking skills and, the risk of developing this disease. However, eventually, the ability to carry out simple not all people with these brain plaques will tasks. Estimates suggest that 50% or more develop the symptoms of Alzheimer’s. ALZHEIMER’S AND RELATED DEMENTIAS EDUCATION AND REFERRAL CENTER Get more facts at nia.nih.gov 1 Alzheimer’s Disease Note that not all dementia symptoms are caused by Alzheimer’s, which currently has Symptoms no cure, and no medications have been approved to treat this disease in people with People with Down syndrome can begin Down syndrome. Medication side effects, to show symptoms of Alzheimer’s in their depression, thyroid disease, and other 40s. But, like in all people with Alzheimer’s, conditions that can be treated and reversed changes in the brains of people with Down may also cause dementia symptoms. syndrome that lead to these symptoms are thought to begin at least 10 years Down Syndrome and earlier. These brain changes include the buildup of plaques and tangles, the loss of Alzheimer’s Research connections between nerve cells, the death of nerve cells, and the shrinking of brain Alzheimer’s can last several years or tissue (called atrophy). more. Symptoms get worse over time and eventually result in death. Scientists are The risk for Alzheimer’s disease in people working hard to understand why some with Down syndrome increases with age, so people with Down syndrome develop it’s important to watch for certain changes this dementia while others do not. They in behavior, such as: want to know how Alzheimer’s begins and progresses so they can develop drugs or • Increased confusion other treatments that can stop, delay, or even prevent the disease process. • Short-term memory problems (for example, asking the same questions Research in this area includes: over and over) • Basic studies to improve understanding • Reduction in or loss of ability to do of the genetic and biological causes everyday activities of brain abnormalities that lead to Alzheimer’s Other possible symptoms of Alzheimer’s dementia in people with Down syndrome are: • Observational research to measure cognitive changes in people over time • Problems with coordination and walking • Studies of biomarkers (biological signs of disease), brain scans, and other tests • Reduced ability to pay attention that may help diagnose Alzheimer’s — • Behavior and personality changes, such even before symptoms appear — and as restlessness and being less social show brain changes as people with Down • Changes in sleep syndrome age • Decreased fine motor control • Clinical trials to test treatments for • Difficulty finding one’s way around dementia in adults with Down syndrome familiar areas Clinical trials are the best way to find out if a treatment is safe and effective in people. Changes in behavior and function may vary based on a person’s abilities before Scientists are hopeful that research on symptoms of dementia were apparent. Alzheimer’s and Down syndrome will not Still, if you notice any of the changes listed only help those with both conditions but above, contact a health care provider to may also lead to effective treatments for all find out more. people with Alzheimer’s. 2 ALZHEIMER’S AND RELATED DEMENTIAS EDUCATION AND REFERRAL CENTER Participating in Research Those who decide to participate sign a written agreement stating they understand New treatments, tests, and other the risks and benefits and agree to discoveries would not be possible without participate in the study. If a person cannot volunteers who participate in clinical studies provide this consent, a legally authorized and trials. By volunteering, people can help representative, such as a family member or others, possibly test new treatments, and caregiver, may give permission. The person access support and resources. with Down syndrome would also need to agree, called assent, to be in the study. Volunteers and their caregivers should consider a study’s risks as well as its There are many ways to learn about benefits. For example, a new drug being research opportunities: tested may have potential side effects. • Learn about the Alzheimer’s Biomarkers Researchers must follow federal and Consortium-Down Syndrome (ABC-DS) international rules to ensure that all and how to participate at participants are safe and that their www.nia.nih.gov/alzheimers/ personal information remains confidential. clinical-trials/alzheimers-biomarkers- Study staff can explain safety and other consortium-down-syndrome. issues and answer questions as you decide whether to participate in a research study • Learn about the Alzheimer’s Clinical Trials or clinical trial. Consortium-Down Syndrome (ACTC-DS) and how to participate at www.actc-ds.org. Not every clinical trial or study is right • Join DS-Connect: The Down Syndrome for every person. Studies have specific Registry, a voluntary, confidential, online requirements that people must meet to registry from the Eunice Kennedy Shriver participate. For example, studies may National Institute of Child Health and require participants to be a certain age, have Human Development, part of the National a certain diagnosis, or have a specific genetic Institutes of Health (NIH). You, your makeup. These requirements help ensure legally authorized representative, or your that the results of a study are reliable and guardian can submit information about useful. If you are not eligible for a specific your health and, if desired, choose to be study, there may be other opportunities. contacted about research opportunities. Visit https://dsconnect.nih.gov or email Family members and other caregivers [email protected] for more information play an important role for adults with and to sign up. Down syndrome who participate in clinical research. They may be asked to accompany • Learn about the INCLUDE (INvestigation the person to study visits, answer health of Co-occurring conditions across the questions about him or her, or provide Lifespan to Understand Down syndromE) consent or permission for the person with project at www.nih.gov/include-project. Down syndrome to take part in the study. • Search NIA’s Alzheimer’s disease Clinical Family members and caregivers may also be Trials Finder at www.alzheimers.gov. eligible to participate in studies themselves. • Visit NIH’s “Clinical Research Trials and “Informed consent” is a process in which You,” which includes a list of questions to researchers explain the study in detail, consider before participating in a clinical describe all the possible risks and benefits trial at www.nih.gov/health-information/ of the study, and clarify participants’ rights. nih-clinical-research-trials-you. ALZHEIMER’S AND RELATED DEMENTIAS EDUCATION AND REFERRAL CENTER 3 For More Information National Down Syndrome Society Resources Alzheimer’s and related Dementias www.ndss.org/resources/alzheimers Education and Referral (ADEAR) Center Medical Care of Adults With Down 800-438-4380 (toll-free) Syndrome: A Clinical Guideline [email protected] https://pubmed.ncbi.nlm.nih.gov/33079159 www.alzheimers.gov The National Institute on Aging’s ADEAR Down Syndrome Research Center offers information and publications and Resources for families, caregivers, and health professionals on Alzheimer’s disease and Down Syndrome: related dementias, including information on Condition and Research Overview caregiving, clinical trials, and research. Staff www.nichd.nih.gov/health/topics/ members answer inquiries by phone, email, downsyndrome and in writing and make referrals to local and national resources. Visit the ADEAR DS-Connect: The Down Syndrome Registry website to learn more about Alzheimer’s https://dsconnect.nih.gov and related dementias, find clinical trials, and sign up for email updates. INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) Project Down Syndrome and www.nih.gov/include-project Alzheimer’s Disease Global Down Syndrome Foundation Alzheimer’s Association www.globaldownsyndrome.org www.alz.org/alzheimers-dementia/ what-is-dementia/types-of-dementia/ National Down Syndrome Congress down-syndrome www.ndsccenter.org LuMind IDSC Foundation National Down Syndrome Society www.lumindidsc.org Publications www.ndss.org/about-down-syndrome/ publications Other Alzheimer’s Resources • Alzheimer’s Disease and Down Syndrome: Alzheimer’s Association A Practical Guidebook for Caregivers 800-272-3900 | www.alz.org • Aging and Down Syndrome: A Health & Well-Being Guidebook Alzheimer’s Foundation of America 866-232-8484 | https://alzfdn.org National Institute on Aging Eunice Kennedy Shriver National Institute of Child Health and Human Development National Institutes of Health NIH...Turning Discovery Into Health® NIH Publication No. 20-AG-8021 | November 2020 U.S. Department of Health and Human Services 4 ALZHEIMER’S AND RELATED DEMENTIAS EDUCATION AND REFERRAL CENTER.