The link between Down Syndrome and Dementia due to Alzheimer’s disease seems to be associated with the extra copy of chromosome 21 seen among people living with Down Syndrome. People with Down Syndrome have three copies of this chromosome compared to the normal two.
What is Down Syndrome?
Down Syndrome, also known as “Trisomy 21,” is a genetic disorder characterized by an extra copy of chromosome 21. According to the Centers for Disease Control and Prevention (CDC), it is this extra copy that causes developmental challenges and delays. In a child diagnosed with Down Syndrome, this can affect them physically and intellectually.
People living with Down Syndrome have different levels of intellectual disabilities. They typically have an IQ (intellectual quotient) that is in the “mild to moderate” range. It is important to appreciate and be aware, however, that some individuals living with Down Syndrome can function almost independently and can take care of themselves with minimal support.
What is Dementia?
The World Health Organization (WHO) defines dementia as a “syndrome in which there is deterioration in memory, thinking, behaviour and the ability to perform everyday activities.”
Dementia is both chronic and progressive. Unlike normal aging, the cognitive decline among people living with dementia is more extreme. WHO explained that it is often accompanied by the person’s inability to control emotions and distinct changes in one’s social behaviour.
What is the Link Between Down Syndrome and Dementia?
Studies have shown that the extra copy of chromosome 21 among individuals living with Down Syndrome causes the production of “too much” of the protein called “amyloid precursor protein” (APP). This excess APP causes these protein molecules to aggregate and produces protein clumps called “beta-amyloid plaques” and protein deposits, called “tau tangles” in the brain, similar to what is seen in dementia.
These plaques and tangles interrupt the brain cells from communicating with each other. This, in turn, manifests in the different forms of cognitive deterioration seen in dementia.
According to the National Institute of Ageing (NIA), by the time an individual living with Down Syndrome reaches 40 years old, they would have already had a buildup of these beta-amyloid plaques and tau tangles in the brain. However, the NIA emphasizes that “not all people with these brain plaques will develop the symptoms of Alzheimer’s.” They estimate that “50% or more of people with Down syndrome will develop dementia due to Alzheimer’s disease as they age.”
Last but not least, current studies show that this type of Alzheimer’s is not inherited.
Living with Down Syndrome and Dementia
The most important message to take home is that people living with dementia and/or Down Syndrome live and can live a good quality of life with appropriate monitoring and support.
The challenge to health professionals especially those directly involved in their care is to figure out creative solutions on how to work together with their clients. It is also important that they share best practices and dialogue with each other. Last but not least, they need to ensure the participation of their clients as much as possible, in decisions concerning their own care and welfare.
In an article written by Katie Stone, published on Texarkana Gazette, entitled, “My Aunt’s Voice: When Down Syndrome Meets Dementia,” it is important for family members and caregivers to “educate themselves.” They need to help provide a “voice” and advocate for those under their care.
Quality of life goes beyond physical care, It is also about being able to encourage and support client independence. It is about empowering clients, honoring their choices and their right to choose. It is about giving them a voice.
