Transcript ALZHEIMER’S AND DOWN’S SYNDROME

ALZHEIMER’S
AND DOWN’S
SYNDROME
What is the correlation
between the two
diagnosis?
What is Down’s Syndrome?
 Down
Syndrome, also known as “trisomy
21” is a condition in which as person is
born with extra genetic material from
chromosome 21.
 Most people with Down Syndrome have a
full extra copy of chromosome 21
meaning they have 3 copies instead of
the usual 2.
Effects of Down Syndrome
 Down
Syndrome almost always affects
learning, language, and memory. The
effects can vary greatly from individual to
individual.
 Other common issues include but are not
limited to: heart defects that are present
at birth, bone and muscle conditions, and
problems with vision and hearing.
Atypical Aging Associated
with Down Syndrome
 Premature
changes in skin and hair
greying
 Early menopause
 Increased frequency of senile cataracts
 Increased frequency of hearing loss
 Age-related increase in hypothyroidism
 Age-related increase in seizures
What is Alzheimer’s Disease?
 It
is the most prevalent cause of dementia
in old age.
 Cause remains unknown
 Risk increases substantially after age 6570. There are some rare cases with
genetic predisposition
 Has a distinctive profile
What is the connection
between Down Syndrome and
Alzheimer’s Disease?
 As
those with Down Syndrome age they
are at increased risk of developing a type
of dementia that is either the same or very
similar to Alzheimer’s disease.
 Autopsy studies have shown that by the
age of 40, the brain of almost ALL
individuals with Down Syndrome have
significant levels of plaque and tangles
which are abnormal protein deposits
considered Alzheimer’s hallmarks.
What is the prevalence of
Alzheimer’s disease in those
with Down Syndrome?
 More
than 75% of those with Down
Syndrome aged 65 and older have
Alzheimer’s disease.
 Because people with Down Syndrome
generally live to be 55 to 60 years old,
they are more likely to develop youngeronset Alzheimer’s (occurring before age
65).
What causes those with Down
Syndrome to be at higher risk
for Alzheimer’s disease?
 First,
here is the hypothesis on what causes
Alzheimer’s disease. B-amyloid deposits
trigger a pathological cascade that leads
to the neuropathological changes seen
with Alzheimer’s disease. B-amyloid is
formed from a large protein needed for
normal cell function, call amyloid
precursor protein or APP.
 This
is significant because the coding for
APP occurs on chromosome 21.
 Individuals with Down Syndrome have 3
copies of this gene and produce excess
APP.
 Over the years, the excess APP leads to Bamyloid plaque formation and eventually
Alzheimer's disease.
What are the symptoms of
Alzheimer’s disease in those
with Down Syndrome?

Symptoms include but are not limited to:
~ Reduced interest in being sociable,
conversing or expressing thoughts
~Decreased enthusiasm for usual activities
~Decline in ability to pay attention
~Sadness, fearfulness or anxiety
~Irritability, uncooperativeness or agitation
~Restlessness or sleep disturbance
~Seizures that begin in adulthood
~Changes in coordination and walking
~Increased noisiness or excitability
How is Alzheimer’s disease
diagnosed?
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Diagnosis is often difficult to establish in individuals with
Down Syndrome in part because of the challenges
involved in assessing thinking-skill changes in those with
intellectual disabilities.
It is important to document baseline adult function by age
35.
Watch for changes in day-to-day function.
Consider professional assessment by a dementia expert.
There are some tests that have been tailored for those with
Down Syndrome.
Rule out other causes of the individuals symptoms. Some
common issues to rule out are thyroid problems, depression,
chronic ear and sinus infections and sleep apnea.
What is the treatment for
Alzheimer’s disease?
 There
currently is no drug that has been
approved specifically to treat dementia
associated with Down Syndrome.
 Many of the current drugs on the market
to treat Alzheimer’s disease have shown
little to no efficacy in treating individuals
with Down Syndrome.