People with Down syndrome (trisomy 21) have an Alzheimer’s risk of over 90 percent. On the occasion of World Down Syndrome Day on 21 March, the Alzheimer Research Initiative e.V. (AFI) draws attention to the close genetic connection and the special challenges in diagnostics, care and research.

The reason for the extremely high risk lies in the triple execution of chromosome 21, on which the gene for the amyloid precursor protein APP is located. The additional gene copy leads to excessive production of amyloid-beta, which is deposited as plaques in the brain at an early stage. The neuropathological changes usually begin in those affected between the ages of 35 and 40 – 15 to 20 years before the first clinical symptoms. The first signs of dementia often appear in the early 50s. In Western industrialized countries, Alzheimer’s dementia is now the most common cause of death in people with Down syndrome.

The diagnosis is particularly difficult. The initial cognitive abilities vary greatly, and without individual comparative values from previous years, changes can hardly be reliably classified. In addition, there is no comparison group of the same age without Alzheimer’s, as almost all those affected develop the disease in the long term. Structured baseline examinations in younger adulthood could make changes more recognizable, but are not established in Germany.

Specialized care services are rare. The Memory Outpatient Clinic at the LMU Clinic Munich, headed by Prof. Dr. Johannes Levin, is a university institution with this focus. Some of those affected travel from all over Germany, but not all of them have the financial or organizational means to do so. The clarification requires experience, patience, individually adapted tests and a multi-professional team – standard procedures from the general population are only transferable to a limited extent.

People with Down syndrome remain severely underrepresented in clinical research. New antibody therapies against amyloid are hardly used in this group due to a lack of safety data. Findings from studies with trisomy 21 patients have made a significant contribution to the understanding of Alzheimer’s pathology. Experts consider systematic inclusion in studies to be scientifically valuable, but call for careful consideration of possible additional risks. The first clinical trials are currently underway abroad.

The AFI sees a central problem in the lack of awareness of the high risk – among those affected, relatives and professionals. Without this knowledge, a delayed reaction often occurs. However, early observation, structured diagnostics and individually adapted support could make a big difference.

The Alzheimer Research Initiative e.V. calls for more public education, greater awareness in everyday medical practice and better consideration of this high-risk group in research.

Editor: X-Press Journalistenbüro GbR

Gender Notice. The personal designations used in this text always refer equally to female, male and diverse persons. Double/triple naming and gendered designations are used for better readability. ected.