Alzheimer's Disease and Down Syndrome

Alzheimer’s Disease and Down Syndrome

Your Guide to Down Syndrome and Alzheimer’s Disease

If you’ve noticed symptoms of Alzheimer’s Disease in your loved one with Down Syndrome, it can be helpful to educate yourself. This knowledge will help you provide the proper care and support your loved one may need and help you develop a plan for their ongoing care as they age and when symptoms increase. 

About Down Syndrome and Alzheimer’s Disease

People with Down Syndrome have a higher risk of developing Alzheimer’s Disease compared to the general population. Alzheimer’s Disease is a neurodegenerative condition characterized by progressive cognitive decline, memory loss, and changes in behavior and personality. Down Syndrome is a genetic condition characterized by intellectual and developmental delays resulting from an extra copy of chromosome 21.

How are Down Syndrome and Alzheimer's Disease related?

People with Down Syndrome have a higher risk of developing Alzheimer’s Disease compared to the general population. As a result, people with Down Syndrome often experience the early onset of Alzheimer’s-related cognitive decline and Dementia, typically in their 40s or 50s. The relationship between Down Syndrome and Alzheimer’s Disease highlights the importance of research and care tailored to the unique needs of this population.

Causes and risk factors

  • – Causes of Down Syndrome: Down Syndrome is primarily caused by a genetic anomaly. It occurs when an individual has an extra full or partial copy of chromosome 21. This extra genetic material affects the development of the body and brain. The exact cause of this genetic anomaly is not always known, but it can occur randomly during the formation of reproductive cells or during early fetal development. Advanced maternal age is a known risk factor, as older mothers are more likely to have children with Down syndrome.
  • – Causes of Alzheimer’s Disease: Alzheimer’s Disease is a complex condition with multiple contributing factors. While the exact cause is not fully understood, it is believed to involve a combination of genetic, environmental, and lifestyle factors. Genetic mutations in genes such as APP, PSEN1, and PSEN2, can increase the risk of developing Alzheimer’s Disease. Most cases are sporadic and not directly linked to these mutations. 
  • – Risk Factors for Alzheimer’s Disease in Down Syndrome: People with Down Syndrome have a significantly increased risk of developing Alzheimer’s Disease compared to the general population. Some risk factors specific to this population include:

– Genetics: The extra copy of chromosome 21 in individuals with Down Syndrome carries the gene for amyloid precursor protein (APP), which is involved in the formation of amyloid plaques in Alzheimer’s Disease.

– Age: Age is the most significant risk factor for Alzheimer’s. People with Down Syndrome often experience Alzheimer’s-related cognitive decline at an earlier age than the general population, typically in their 40s or 50s.

– Family History: A family history of Alzheimer’s Disease in individuals with Down syndrome may further increase their risk.

– Lifestyle Factors: Diet, physical activity, and cognitive engagement can be risk factors.

– Other Risk Factors: Certain medical conditions like cardiovascular disease and diabetes are also risk factors.

Given the increased risk, people with Down Syndrome and their caregivers need to be aware of the potential for Alzheimer’s Disease and to monitor cognitive and memory changes closely. Early diagnosis and appropriate interventions can help improve the quality of life for those affected by both Down Syndrome and Alzheimer’s Disease. 

Symptoms of Alzheimer’s Disease in someone with Down Syndrome

Common symptoms of Alzheimer’s Disease in someone with Down Syndrome include:

Memory Loss: Progressive memory decline, including difficulty remembering recent events, names, and faces.

Cognitive Decline: Challenges with thinking, problem-solving, and making decisions. Individuals may become easily confused and disoriented, even in familiar environments.

Communication Difficulties: Difficulty finding the right words, forming sentences, or following and participating in conversations.

Changes in Behavior: Alterations in mood and behavior, such as increased irritability, anxiety, depression, agitation, and social withdrawal.

Loss of Skills: Regression in previously acquired skills, including self-care abilities and language skills.

Wandering: Restlessness and wandering behavior, often without a clear purpose, which can be a safety concern. It’s best to create a home safety checklist for those with Alzheimer’s and Down Syndrome to ensure they are safe.

Sleep Disturbances: Sleep problems, including insomnia or disrupted sleep patterns.

Hallucinations and Delusions: Seeing or hearing things that are not there (hallucinations) or having false beliefs (delusions).

Motor Skills: Decline in motor skills, coordination, and muscle strength.

Loss of Independence: As the disease progresses, your loved one may require more assistance with daily activities and personal care.

Loss of Recognition: Difficulty recognizing family members and close friends.

People with Down Syndrome may have varying levels of cognitive impairment from the outset due to their underlying condition. When Alzheimer’s Disease is superimposed, it can lead to a further decline in cognitive and functional abilities. At some point during the progression of these two diseases, your loved one may need assisted living for Alzheimer’s and Down Syndrome care, if their needs become too much for you or their caregiver. 

Does Down Syndrome have different early signs of Alzheimer's?

People with Down Syndrome may exhibit early signs of Alzheimer’s Disease compared to those without Down Syndrome. While the general symptoms of Alzheimer’s remain consistent, the presentation and progression of these symptoms can vary. For people with Down syndrome, early signs may include memory loss, language difficulties, changes in behavior, and difficulties with daily tasks. 

However, the manifestation of Alzheimer’s symptoms in people with Down Syndrome can differ from person to person, and a proper diagnosis by a healthcare professional is essential for accurate assessment and support.

What genetic factor is associated with Down syndrome and Alzheimer's Disease?

Both Down Syndrome and Alzheimer’s Disease have different associated genetic factors.

Down Syndrome: The additional genetic material in the extra copy of chromosome 21 (Trisomy 21)in people with Down Syndrome leads to developmental and intellectual challenges characteristic of Down Syndrome. Individuals with Down Syndrome also have an extra copy of the amyloid precursor protein (APP) gene, contributing to the higher risk of Alzheimer’s Disease in this population.

Alzheimer’s Disease: Alzheimer’s Disease has several genetic risk factors, with the most common being variations in the APOE gene. The APOE gene comes in different forms (alleles), including APOE ε2, ε3, and ε4. The presence of the APOE ε4 allele is associated with an increased risk of developing Alzheimer’s Disease. Mutations in other genes, such as APP and presenilin genes (PSEN1 and PSEN2), are linked to early-onset familial Alzheimer’s Disease.

While genetics play a role in both conditions, they are not the sole determinants. 

Why do people with Down Syndrome get Alzheimer's early?

People with Down Syndrome have an increased risk of developing Alzheimer’s Disease early due to genetic factors including having an extra copy of chromosome 21 and the associated amyloid precursor protein (APP) gene. These contribute to the accumulation of beta-amyloid plaques in the brain. Structural and functional brain differences in Down Syndrome and an accelerated aging process further elevate this risk. Reduced cognitive reserve and increased susceptibility to Alzheimer’s-related changes are additional factors. Not everyone with Down Syndrome will develop Alzheimer’s, and the age of onset can vary.

Diagnosis of Alzheimer’s Disease with Down Syndrome

Diagnosing Alzheimer’s Disease in those with Down Syndrome requires a comprehensive assessment that considers medical history, genetic testing, neuropsychological evaluations, brain imaging, biomarker testing, daily functioning assessments, and behavioral evaluations. A multidisciplinary approach is necessary for accurate diagnosis due to the unique cognitive characteristics of these diseases. Early diagnosis, interventions, and supportive care are essential for maintaining your loved one’s quality of life and providing the necessary support they need for their caregiver. 

Ongoing research aims to unravel the underlying mechanisms of Alzheimer’s Disease in people with Down Syndrome and explore potential treatments, with the goal of improving care for those who suffer from it.

For more information on Dementia and Alzheimer’s, check out our Dementia Care page.

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