You may have heard the terms Alzheimer’s disease and Down syndrome on more than one occasion. Alzheimer’s disease, a disease that affects the brain and causes a gradual decline in memory and cognitive function, is affecting millions of families around the world. Down syndrome, a genetic condition caused by an extra copy of chromosome 21, can lead to intellectual impairment in addition to specific facial features. While the two may not seem related at first glance, research shows that people with Down syndrome are actually at a higher risk of developing Alzheimer’s disease as they age. This finding has important implications for our understanding of the connection between the two conditions and how to more effectively manage and provide care.
Key Points
- People with Down syndrome have an excess of the APP gene on chromosome 21, which increases beta-amyloid protein, which increases their risk of Alzheimer’s disease.
- More than half of people with Down syndrome will experience cognitive impairment similar to Alzheimer’s disease in old age, indicating that they are at a significantly higher hidden risk.
- Early identification of Alzheimer’s disease is particularly important for people with Down syndrome. Cognitive assessments, brain imaging and biomarkers can help with early diagnosis. Comprehensive management and multidisciplinary support are essential to improve the quality of life of patients.
Table of Contents
- What is Alzheimer's disease?
- What is Down syndrome?
- What do the two have in common?
- How common is Alzheimer's disease in people with Down syndrome?
- How to detect Alzheimer's disease early in people with Down syndrome?
- How can we better help them?
What is Alzheimer's disease?
In simple terms, Alzheimer's disease is a disease that gradually erodes memory and thinking ability. Initially, it may manifest as occasional forgetfulness, but as the disease progresses, the impact becomes more and more severe, eventually affecting all aspects of daily life. The main cause behind it is abnormal protein deposits in the brain (formed by the accumulation of beta-amyloid protein). These deposits interfere with communication between brain cells, causing cell loss of function or even death.
What is Down syndrome?
Down syndrome is a genetic disease caused by an extra chromosome called chromosome 21. This extra chromosome leads to a lack of physical and brain development, with the main features being typical facial features (such as squinting eyes and a flat nose), physical features such as slow growth, slow intellectual development and possibly various heart and digestive abnormalities. Of note, this genetic condition is also associated with an increased risk of developing Alzheimer's disease, which has been confirmed in scientific studies.
What do the two have in common?
The most direct link comes from the APP gene carried by the extra chromosome 21, which leads to more beta-amyloid production, which in turn increases the risk of developing Alzheimer's disease. The increase in beta-amyloid in people with Down syndrome explains why the incidence of Alzheimer's disease is higher in this group.
How common is Alzheimer's disease in people with Down syndrome?
It is estimated that more than half of people with Down syndrome will experience cognitive decline in old age, which is very similar to the symptoms of Alzheimer's disease. This condition is not inherited from the parents, but is related to the risk factors inherent in the genetic characteristics of people with Down syndrome.
How to detect Alzheimer's disease early in people with Down syndrome?
Identifying the signs of Alzheimer's disease early is particularly important in people with Down syndrome, but it is also challenging. Doctors can detect and diagnose Alzheimer's disease earlier through cognitive assessments, brain imaging techniques, and testing for biomarkers in cerebrospinal fluid.
How can we better help them?
Supporting people with Down syndrome and those with Alzheimer's disease requires a multi-faceted approach: physical health, cognitive training, and emotional support. In addition, a comprehensive treatment approach from a multidisciplinary team, social and psychological support resources, all play an important role in improving the quality of life of patients.
reference
Alzheimer's Disease in People With Down Syndrome
Structural Connectivity in Down Syndrome and Alzheimer’s Disease
Alzheimer's disease in Down syndrome: Neurobiology and risk
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