Alzheimer’s and Down syndrome
By the Adult Down Syndrome Center
Decline in Skills –Could it be Alzheimer’s disease?
Persons with Down syndrome and their families often have concerns and questions
regarding Alzheimer’s disease. Persons with Down syndrome are sometimes diagnosed
as having Alzheimer’s much earlier than in the general population. However, it is
important to find out exactly what is causing the declines in skills that usually cause these
questions and diagnoses.
Alzheimer’s disease is a progressive disease of the nervous system. Brain cells are
destroyed and the person may experience problems in a number of areas including
memory, ability to make decisions, and in controlling when to go to the bathroom. Under
a microscope, doctors are able to see that the brain has changed, with an increase in areas
called “plaques” and “tangles.”
People with Alzheimer’s disease often show changes in the following ways.
Forgetting things more often, including forgetting dates or how to get to familiar
places like home
Putting things in a strange place
Problems with tasks that they used to do well, like setting the table, brushing
teeth, vacuuming and other tasks that may have been part of the person’s daily or
weekly routine
Sudden changes in mood or behavior, such as quickly getting angry or crying
Difficulty with getting dressed, eating or walking
Forgetting common words or using the wrong words
Losing interest in things they used to enjoy doing, like watching a favorite TV
show
A study was done some years ago that looked at the brains of a group of persons with
Down syndrome that had died and found plaques and tangles in nearly all of them over
the age of 35. Because of this, many people thought that all persons with Down
syndrome over the age of 35 or 40 developed Alzheimer’s disease. Our own research,
which gathered information on 3,000 adults with Down syndrome, found different
conclusions. Our study as well as that of other researchers, seems to show that people
with Down syndrome get Alzheimer’s disease at about the same rate as the general
population.
Just like the disease in the general population, persons with Down syndrome with
Alzheimer’s disease show the “tangles” and “plaques” in their brain under a microscope.
These persons with Down syndrome and Alzheimer’s have difficulty with memory,
impaired cognition (thought processes) and suffer from the loss of skills in activities of
daily living (getting dressed, bathing) and the loss of bodily functions (problems using
the bathroom, changes in walk, trouble swallowing and others).
Diagnosis of Alzheimer’s Disease
It is important to understand that there is no perfect diagnosis for Alzheimer’s disease.
There is no blood test, X-Ray, CAT Scan or any other test that may tell us definitively
that the person has Alzheimer’s disease. Experts in the field have called the process for
determining if Alzheimer’s disease exists as a “diagnosis of exclusion.” This means that
every other health or mental health condition must be looked at and ruled out before
making the diagnosis.
For example, many of the symptoms of Alzheimer’s are also symptoms of such common
mental health conditions as depression, or of many medical conditions, such as a
hypothyroidism, which is very common in people with Down syndrome. We have even
found that too much ear wax, which affects the person’s ability to hear, may also be
misinterpreted as Alzheimer’s dementia. In other words we strongly suggest that any
change in function be considered as a symptom of other health or mental health
conditions before assuming Alzheimer’s disease.
One way to think about this is to consider what you would want if you began to show
some changes in function. Would you want people to automatically assume you have
Alzheimer’s, an incurable disease, or would you want them to look for and try to treat
other causes? The answer is obvious. We owe it to all of our patients and you owe it to
the person in your care to give them this consideration.
Those that do develop Alzheimer’s disease however, get the disease on average 20
years earlier than persons without Down syndrome.
In other words, the percentage of persons with Down syndrome in their forties who have
Alzheimer’s disease is about equal to the percentage of people without Down syndrome
in their sixties who have Alzheimer’s.
Decline is also more rapid for people with Down syndrome. As a general rule, persons
with the highest level of function before Alzheimer’s disease tend to decline the slowest
when they develop Alzheimer’s disease. Seizures are also more common in persons with
Down syndrome who have Alzheimer’s disease and tend to occur earlier in the disease.
How to find out if a person has Alzheimer’s disease
To decide whether an individual has Alzheimer’s, a thorough evaluation is needed.
There is no one test that makes the diagnosis. The diagnosis is made by looking for a
pattern of decline, looking for supporting information (such as findings on a CAT scan),
and ruling-out other possible causes.
There are many reasons someone’s skills may decline. Some of the reasons are due to
illnesses that cannot be cured. Unfortunately, right now, Alzheimer’s disease is one of
these illnesses. However, many of the other causes can be treated and the evaluation
should check to see whether one of these causes is responsible for the decline.
The evaluation includes assessment for the following issues:
Sleep apnea (pause in breathing while asleep)
Hypothyroidism (the body is not making enough of the thyroid hormone)
Vitamin B12 deficiency (helps make red blood cells)
Depression
Other issues may be causing the decline in skills. Younger people, especially, may be
overwhelmed. This may happen when expectations are greater than the person can meet.
We have seen a number of people who had fine skills in self-care, tasks in the home, and
work tasks. Unfortunately, some of these folks had a difficult time in organizing their
time or dealing with changes in their schedule. Others have a difficult time in how to use
their “downtime” or recreation time. This occurs even when the person has the skill to do
all the activities but may not be able to “pull it all together.” This is where the
expectations may be higher than the actual ability. Before the decline, the person
appeared to be doing well because they were able to do so many tasks. When the
expectations are too great, in a sense the person “shuts down.”
In Alzheimer’s disease, the symptoms we typically see include the following:
Memory problems
Decline in cognitive skills (trouble with thinking or decision-making)
Incontinence or urine and/or stool (not making it to the bathroom on time)
Gait disturbance (changes in walking)
Personality or psychological changes, such as:
o Depressed mood
o Aggressiveness
o Paranoia (thinking people are trying to hurt them)
o Compulsiveness (repeating behaviors over and over)
o Loss of interest in activities
Seizures and/or myoclonic jerks (Myoclonic jerks are brief, shock-like jerks or
twitching of a muscle or a group of muscles.)
Trouble swallowing
Sleep changes (awake at night/sleeping during the day)
Changed appetite and thirst
These symptoms develop over time and not all of them are present in the early stages. In
fact, the youngest person with Down syndrome we diagnosed with Alzheimer’s was 35
years old when his symptoms began. Alzheimer’s disease is lower on our list of possible
explanations for any of our younger patients who come to us with a decline in skills.
Careful assessment, support, observation over time, and treatment of any of the
potentially reversible conditions will often help make the diagnosis more clear and lead
to improvement in those individuals who don’t have Alzheimer’s disease.
Decline in Function
Clinical Worksheet
This worksheet gives you some ideas of the kinds of things we look for when considering
if someone needs a thorough evaluation for Alzheimer’s disease. This worksheet is not a
tool to be used by you or another doctor to make a diagnosis, but is simply a guide for
you in deciding whether or not to seek more help.
Cognition
o Slowing down/decreased energy/sluggish
o Decreased ability to follow directions
o Seems to understand less/confusion
o Difficulty organizing things
o Staring into space “mask face”
Concentration
o Decreased interest/participation in activities
o Flat mood/apathy
Personality
o Decreased interest/participation in activities
o Flat mood/apathy
o More withdrawn/less social
o Seems depressed/less smiling
o Less cooperative
o Mood swings
o Cries easily
o Irritability/easily upset
o Temper flares/outbursts
o Yelling/swearing
o Pushing/hitting/kicking/biting
o Excessively fearful/new fears
o Loss of inhibition (example: taking off clothes)
o Increased self talk
o New behaviors/changing old routines
o Doesn’t like being alone (new)
o Increase in routines/rituals
Walking/Posture
o Afraid of uneven surfaces/stairs
o Walking less
o Walking slower
o Decreased step length
o Unsteady when walking/holding for support
o Leaning to one side
o Falling
Movement
o Unusual movement/tics
o Myoclonic jerks/jerking movements
o Witnessed seizures
Memory
o Increased forgetfulness
o Losing things
o Forgetting where going/why went
o Wandering
o Getting lost
o Not recognizing people
o Needs more reminders/prompts
Talking
o Difficulty finding words
o Decreased speech/articulation/vocabulary
Sleep
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o
o
o
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Problems falling asleep at night
Problems staying asleep at night
Refusing to get out of bed/sleeping more
Day-night reversal
Daytime sleepiness/increased naps
Food-Related
o Takes more time to eat a meal
o Decreased appetite
o Weight loss
o Choking/gagging/difficulty swallowing
o Urinary incontinence
o Stool incontinence
Hallucinations
o Hearing things that aren’t there
o Seeing things that aren’t there
How to Get Help
If your are concerned that someone you know with Down syndrome might have
Alzheimer’s disease, make an appointment with a physician and get an evaluation. You
can call the Adult Down Syndrome Center for more information at 847-318-2303 or go
on the internet at http://www.advocatehealt.com/adultdown.
You can also get information from the Alzheimer’s Association Greater Illinois chapter at
800-272-3900 or go on the internet at http://www.alzheimers-illinois.org