Introduction
A neurodegenerative condition known as Alzheimer's disease (AD) is characterized by behavioral and cognitive impairment that severely impairs social and professional functioning. It is an incurable disease. Plaques form in the cerebral cortex's hippocampus, a deep-seated structure that helps in memory encoding and other regions related to thought and decision-making. It is unclear if plaques themselves cause Alzheimer's disease or if the Alzheimer's disease process produces them as a byproduct.
The likelihood that an adult with Down syndrome may experience Alzheimer's disease rises with age. It is estimated that 30 percent of 50-year-old Down syndrome survivors also have Alzheimer's disease. In their 60s, 50 percent of persons with Down syndrome develop Alzheimer's disease.
What Is Alzheimer's Disease?
Alzheimer's disease is a progressive brain disorder marked by protein deposits and shrinkage of the brain, in addition to the eventual death of brain cells. It is the most common cause of dementia, which is characterized by a progressive loss of memory, thinking, behavior, and social skills that impairs an individual's capacity to function.
What Is Down Syndrome?
A person with Down syndrome possesses an extra chromosome or a portion of a chromosome. This extra copy alters the development of a baby's body and brain. Throughout their lifespan, it may provide physical and mental difficulties. Each person with Down syndrome is unique, even though they may act and appear alike.
What Is Alzheimer's Disease in People With Down Syndrome?
When people get older, many, but not all, with Down syndrome suffer from Alzheimer's disease. Most individuals with Down syndrome have these plaques by the age of 40, along with additional protein deposits known as tau tangles, which impair brain cell activity and raise the possibility of Alzheimer's symptoms. As mature, estimates indicate that at least 50 percent of individuals with Down syndrome will experience dementia as a result of Alzheimer's disease. People with Down syndrome do not inherit this type of Alzheimer's from their parents genetically.
What Are the Early Signs of Dementia?
Individuals who have Down syndrome may have early dementia signs or symptoms that are a worsening of pre-existing conditions, making them more difficult to identify. Typical early warning indicators consist of the following:
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Reduced capacity to do everyday chores, deterioration in short-term memory, elevated indifference, and inactivity.
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Decreased inclination to mingle and a decline in impromptu speaking and communication abilities.
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Alterations in the patterns of sleep at night.
What Signs of Alzheimer's Disease Do Individuals With Down Syndrome Exhibit?
It is possible that an individual with Down syndrome will not experience the same symptoms as other persons with the same ailments. More precisely, the following symptoms could be present:
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Diminished enthusiasm for social engagement.
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Reduced interest in past "loved" activities, events, and hobbies.
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An increase in agitation, aggression, and anxiety.
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Loss of previously acquired knowledge.
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Altered sleep patterns and increased restlessness.
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Reduced capacity to focus and pay attention.
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A rise in compulsive behaviors.
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Commencement of critical and self-deprecating remarks.
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Beginning of perplexity or disorientation.
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Fatigue, lack of vigor, and "spark for life."
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Loss of capacity to finish multi-step jobs.
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Loss of coordination and balance when walking.
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Emergence of seizures.
What Are the Causes?
Chromosome 21:
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The additional genes present cause a greater risk of dementia, as well as other health problems linked to Down syndrome.
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The chromosome 21 gene that codes for Amyloid Precursor Protein (APP) is particularly interesting in the relationship between Down syndrome and Alzheimer's disease.
Amyloid Precursor Protein (APP):
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Although the exact role of amyloid precursor protein is still unknown, scientists have discovered that it is constantly "processed" by the brain into smaller chunks during regular brain activity.
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A brain's APP processing pathway generates beta-amyloid, a peptide that is the main constituent of plaques and a leading candidate for brain abnormalities associated with Alzheimer's disease.
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An additional copy of the APP gene may result in higher beta-amyloid formation, which would set off a series of biological events that would eventually lead to Alzheimer's.
What Is the Diagnosis?
Given their pre-existing intellectual handicap, people with Down syndrome may present challenges in receiving an Alzheimer's disease diagnosis. A few of the methods used to diagnose are as follows-
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For a doctor, knowledge from close family members is very valuable and significant.
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A close family member is typically the first to detect changes in their loved one with Down syndrome since they are familiar with their baseline abilities, which include their intellectual and functional skills.
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Locating a memory specialist—a neurologist, psychiatrist, or geriatrician—who is skilled in assessing individuals with intellectual disabilities is also beneficial.
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The Physician will do tests and laboratory testing to rule out alternative explanations of the symptoms and evaluate the patient using a range of "thinking" assessments tailored for an individual with Down syndrome.
Experts advise the following actions to help with a potential diagnosis for the member of the close family of the person with Down syndrome:
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Before the age of 35, have a thorough evaluation of one's cognition, social skills, and behavior. Ensure the evaluation's findings are recorded in the patient's medical file. This evaluation will be a helpful benchmark against which modifications can be evaluated.
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Any changes in a loved one's daily conduct should be noted in a journal.
What Is the Treatment?
There are no particular medications that are authorized to treat Down syndrome and Alzheimer's disease together. A few of the treatments are as follows-
The cholinesterase inhibitors, such as:
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Donepezil.
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Rivastigmine.
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Galantamine.
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NMDA (N-methyl-D-aspartate) receptor antagonist memantine are the two medication classes that are available to treat Alzheimer's disease.
Sadly, there is not much data to back up the usage of either class in individuals who have both illnesses. Memantine has not proved to be beneficial in a big clinical trial, including patients with Down syndrome, and there is insufficient scientific data to conclude that cholinesterase inhibitors are helpful in these patients.
Clinical trials are underway at very early stages for several drugs that target some of the genetic and chemical abnormalities in the brain that occur in persons with Down syndrome and Alzheimer's disease.
Conclusion
Numerous genes on chromosome 21 are in charge of particular aging-related processes. People think that the additional whole or partial chromosome may be a factor in the higher incidence of Alzheimer's disease observed in individuals with Down syndrome. One should control and avoid elevated blood pressure and blood sugar, continue to weigh healthy, take up physical activity, quit smoking, avoid binge drinking, and make time to sleep.
