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Familial Alzheimers disease (FAD). This is a form of Alzheimers disease that is known to be
entirely inherited. In affected families, members of at least two generations have had
Alzheimers disease. FAD is extremely rare, accounting for less than 1% of all cases of
Alzheimers disease. It has a much earlier onset (often in the 40s) and can be clearly seen to
run in families.
2. EPIDEMIOLOGY
An estimated 5.4 million Americans of all ages have Alzheimers disease in 2011. This figure
includes 5.2 million people aged 65 and older and 200,000 individuals under age 65 who have
younger-onset Alzheimers.
International statistics
Prevalence rates of AD similar to those in the United States have been reported in industrialized
nations. The prevalence of dementia in subjects 65 years and older in North America is
approximately 6-10%, with AD accounting for two-thirds of these cases. If milder cases are
included, the prevalence rates do uble. Countries experiencing rapid increases in the elderly
segments of their population have rates approaching those in the United States.
AD has become nearly twice as prevalent as vascular dementia (VaD) in Korea, Japan, and
China since transition in the early 1990s. American and European studies consistently reported
AD to be more p revalent than VaD. They found a dementia prevalence rate among Chinese aged
50 years and older on the islet of Kin men for this age group of 11.2 per 1,000. AD accounted for
64.6% and VaD for 29.3%. These results, together with previous studies in Chinese populations,
suggest that the rates of AD in the Chinese are low compared with those in whites.
In Nigeria, the prevalence of dementia was low. Indian studies were contradictory, with both AD
and VaD being more prevalent in different studies.
-Age distribution for Alzheimer disease
The prevalence of AD increases with age. AD is most prevalent in individuals older than 60 years.
Some forms of familial early-onset AD can appear as early as the third decade, but this
represents a subgroup of the less than 10% of all familial cases of the disease.
More than 90% of cases of AD are sporadic and occur in individuals older than 60 years.
However, of interest, results of some studies of nonagenarians and centenarians suggest that the
risk may decrease in individuals older than 90 years. If so, age is not an unqualified risk factor for
the disease, but further stu dy of this matter is needed.
-Sex distribution for Alzheimer disease
AD affects both men and women; however, Plassman et al found the risk of developing AD to be
significantly higher in women than in men, primarily due to women's higher life expectancy.
-Prevalence of Alzheimer disease by race
AD and other dementias are more common in African Americans than in whites.
In individuals age 65 and older, 7.8% of whites, 18.8% of African-Americans, and 20. 8% of
Hispanics have AD or other dementias, and the prevalence of AD and other dementias is higher
in older versus younger age groups.
3. ETHIOLOGY
In the majority of cases, scientists do not yet know what causes Alzheimers disease. Most
researchers agree that like other chronic conditions, Alzheimers disease results from multiple
factors rather than a single cause. Biologically, the two key abnormalities seen are plaques deposits of a protein fragment called beta-amyloid, and tangles - twisted strands of another
protein, tau. In Alzheimers disease, the beta-amyloid accumulates in the brain either because of
excess production of beta-amyloid or a decreased ability to dispose of it. The beta-amyloid
fragments accumulate in microscopic plaques. Tangles are formed are formed when the protein
tau twists into strands inside the dead brain cells.
Scientists are not really certain what causes an individual to develop AD. In AD, changes in nerve
endings and brain cells interfere with normal brain functions.
Some scientists believe there may not even be a particular cause, but instead several factors that
affect each person differently.
These changes can be caused by:
- Genetic Influences: The presence of defective genes is known to increase a persons risk of
developing AD, especially if there is a familial tendency of downs syndrome in the family. It
has to do with the chromosome 21 defect gene, that makes a person predisposed to the
disease of AD.
- Biochemical imbalance: A shortage of a vital chemical in the brain may contribute to AD. This
chemical is known as amyloid.
- A defective protein: Some scientists believe that AD develops when a certain protein fails to
maintain and protect the nerve cells. This protein is called apolipoprotein ( apoE) Everyone
has this gene which helps carry cholesterol in the blood, however there is a scientific
connection that it can contribute to some more predisposed for the risk of developing AD.
A slow virus: Some scientists believe AD may be caused by a viral infection that takes years
to develop fully. People do not catch it like other viruses.
- Factors such as stroke may make AD symptoms more severe. Some strokes can be
prevented by treating high blood pressure. Stroke has a direct correlation on the brain, and
can increase the chances of a person developing AD.
4. RISK FACTORS
Risk factor
Age
High life expectancy. Normal aging process increases the risk of AD.
Positive
family
history
Down
Syndrome
Head injury
Education
Several studies have shown that people who have less than six years of formal
education appear to have a higher risk of developing AD. Low education may
reflect early experiences that were not beneficial to brain development. Higher
education is thought to delay the onset of symptoms of Alzheimer Disease
probably due to greater brain reserve or educational activities that may stimulate
brain activity. Education as a protective factor requires more study to determine
whether it is education that makes a difference or other factors related to it (e.g.,
income level).Error! Bookmark not defined.,Error! Bookmark
not defined.
Aluminum
The correlation between AD and aluminum is still under debate in the scientific
community. Some studies have indicated that exposure to aluminum in drinking
water may increase the chances of individuals developing Alzheimer
Disease.Error! Bookmark not defined.
Estrogen
Research has been conducted on estrogen and its impact on various diseases,
including AD. Current research indicates that combined estrogen therapy
(estrogen plus progestin) in women over the age of 65 doubled their risk of
developing Alzheimer Disease and Vascular Dementia, over a five-year period.
Research continues to investigate the effects of estrogen-only therapy on
cognition. Previous research has shown that women with Alzheimer Disease
who were treated with estrogen showed no sign of improvement. Error!
Social,
productive
and
Physical
activity
Recent data from the CSHA-2 (Canada Study for Health and Aging) show that
regular physical activity was associated with reduced risk of AD. This information
supports previous clinical trials showing exercise to benefit cognitive function.
Identifying the protective effect of regular physical activity is an important finding
since it may represent a relatively safe and available strategy to help prevent
AD, as well as many other chronic conditions. The CSHA-2 recommends that
further research still needs to be conducted in this area. Error! Bookmark
not defined.
Comorbid
diseases
Hypertension, high cholesterol, diabetes mellitus and low estrogen may affect
the development of AD. Co-morbid diseases that may affect the development of
AD are being researched.Error! Bookmark not defined.,Error!
Other risk
factors
being
studied
5. PATOPHYSIOLOGY
(di gambar hape) >> dr buku Shofi
6. CLINICAL MANIFESTASIONS
Common Changes in Mild AD
- Loses spark or zest for life does not start anything.
- Loses recent memory without a change in appearance or casual conversation.
- Loses judgment about money.
Early Signs
finding it hard to remember things
asking the same questions over and over
having trouble paying bills or solving simple math problems
getting lost
losing things or putting them in odd places
Later signs
forgetting how to brush your teeth or comb your hair
being confused about time, people and places
forgetting the names of common things suuch as desk, house, or apple.
wandering away from home.
Many other conditions such as drug interactions, reactions, depression, bacterial infections,
kidney problems, and malnutrition can cause some of the same types of symptoms. Many of the
secondary causes are treatable.
A person with AD often feels a mixture of emotions.
These include:
- Confusion: Many people with AD realize that something is wrong to them, and
something is happening to their memory, or ability to function, but they are not sure
what it is.
- Fear: Loss of memory and mental ability can make the world a very frightening place
for these individuals.
- Anger: Many people feel angry about their loss of abilities and ask, Why is this
happening to me?
- Frustration: No matter how hard people try, persons with AD just can not do all the
things they used to do.
- Uncertainty: Because the symptoms and progress of AD vary so much, it is hard to
know exactly what lies ahead for them.
- Grief/ Depression: Some people mourn the loss of their abilities and become
increasingly depressed.
develop Alzheimer's or whether a person has Alzheimer's. Genetic testing for APOEe4 is
controversial and should only be undertaken after discussion with a physician or genetic
counselor.
Deterministic genes: Testing also is available for genes that cause autosomal dominant
Alzheimer's disease (ADAD) or "familial Alzheimer's," a rare form of Alzheimer's that accounts for
less than 5 percent of all cases. ADAD runs strongly in families and tends to begin earlier in life.
Many people in these families do not wish to know their genetic status, but some get tested to
learn whether they will eventually develop the disease. Some ADAD families have joined clinical
studies to help researchers better understand Alzheimer's.
A new blood test called APOE (apolipoprotein E) genotyping has been used to identify individuals
who carry the APOP4 gene. The presence of this gene increases a persons risk for AD and when
the gene is present in a person with dementia, a diagnosis of AD is supported. This test is not
recommended as a predictive test in individuals who do not have symptoms of cognitive
impairment.
Neurological exam
During a neurological exam, the physician will closely evaluate the person for problems that may
signal brain disorders other than Alzheimer's. The doctor will look for signs of small or large
strokes, Parkinson's disease, brain tumors, fluid accumulation on the brain, and other illnesses
that may impair memory or thinking.
The physician will test:
- Reflexes
- Coordination, muscle
- tone and strength
- Eye movement
- Speech
- Sensation
Neurological testing: A patients brain functions can be tested in a number of ways.
These tests would include:
- EEG ( electroencephalogram)
- CT Scan ( computerized tomography)
- MRI ( magnetic resonance imaging)
- Memory cards and evaluations
Mental status tests
Mental status testing evaluates memory, ability to solve simple problems and other thinking skills.
Such tests give an overall sense of whether a person:
- Is aware of symptoms
- Knows the date, time, and where he or she is
- Can remember a short list of words, follow instructions and do simple calculations
Psychological testing: A psychologist or psychiatrist determines a patients mental status by using
a variety of testing, including the following:
- A full clinical interview
- Tests to determine memory loss and general mental health
The minimental state exam and the minicog test are two commonly used tests.
A. Minimental state exam (MMSE)
During the MMSE, a health professional asks a patient a series of questions designed to test
a range of everyday mental skills.
Examples of questions include:
- Remember and repeat a few minutes later the names of three common objects (for
instance, horse, flower, penny)
- State the year, season, day of the week and date
- Count backward from 100 by 7s or spell "world" backwards
Name two familiar objects in the office as the examiner points to them
Identify the location of the examiner's office (state, city, street address,floor)
Repeat a common phrase or saying after the examiner
Copy a picture of two interlocking shapes
Follow a threepart instruction, such as: take a piece of paper in your right hand, fold it
in half, and place it on the floor
B. Minicog
During the minicog, a person is asked to complete two tasks:
1.Remember and a few minutes later repeat the names of three common objects
2.Draw a face of a clock showing all 12 numbers in the right places and a time specified by
the examiner
The results of this brief test can help a physician determine if further evaluation is needed.
C. Mood Assessment
In addition to assessing mental status, the doctor will evaluate a person's sense of wellbeing
to detect depression or other mood disorders that can cause
memory problems, loss of interest in life, and other symptoms that can overlap with dementia.
Brain imaging
A standard medical workup for Alzheimer's disease often includes structural imaging with MRI or
CT; these tests are primarily used to rule out other conditions that may cause symptoms similar to
Alzheimer's but require different treatment. Structural imaging can reveal tumors, evidence of
small or large strokes, damage from severe head trauma or a buildup of fluid in the brain.
Imaging technologies have revolutionized our understanding of the structure and function of the
living brain. Researchers are exploring whether the use of brain imaging may be expanded to
play a more direct role in diagnosing Alzheimer's and detecting the disease early on.
8. MANAGEMENT
Currently, there is no cure or a way to prevent AD. Treatment modalities can improve the lives of some
individuals with the disease. By the use of some medications it may make it easier to monitor and control
some of the behavior seen with the progression of the disease progress.
Therapeutic options for Alzheimers disease :
Non Pharmacologic therapy
Stimulation: Group activities, discussion groups, music therapy, multisensory stimulation
Pharmacologic therapy
Cholinesterase inhibitors (or cholinergics): Donepezil, rivastigmine, galantamine
Glutamatergic agents: Memantine, D-cycloserine
Selegiline
Hormone replacement therapy (estrogen)
Anti-inflammatory drugs (NSAIDs)
Antioxidant therapies
Vitamin E
Nootropic Drugs
Ginko Biloba
Nicergoline
Piracetam
Therapy for psychiatric symptoms : behavioural disturbances, mood disorders,
agitation with dementia (e.g. delirium, depression, psychosis, insomnia,
sundowning, aggression or anger, osteoarthritic pain)
TACRINE (cognex) and DONEPEZIL ( aricept) are prescription drugs that can help slow the
development of mild or moderate AD in some cases. But be aware, there are no drugs that are without
side effects.
Anticholinesterase drug for example is Aricept.
Anticholinesterase inhibitors are a class of drugs used to treat dementia associated with Alzheimer's
disease. This class of drugs works by increasing the amount of a chemical called acetylcholine in the
brain. This may reduce the symptoms of dementia associated with Alzheimer's disease but does not cure
it.
The safety of this drug during pregnancy or lactation in humans has not been established. therefore,
usage in women who may become pregnant requires weighing the drug's potential benefit against its
possible hazards to mother and child.
Patients may develop "antocholinesterase insensitivity" for brief or prolonged periods. During these
periods the patients should be carefully monitored and may need respiratory assistance. Dosages of
antocholinesterase drugs should be reduced or withheld until patients again become sensitive to them.
Side effects : Anticholinesterases cause a build up of ACh that results in potentiation of its effects at
muscarinic receptors. This can cause bradycardia, miosis, GI upset, nausea, bronchospasm, increased
bronchial secretions, sweating and salivation. For this reason an antimuscarinic such as glycopyrronium
or atropine must be administered along with the anticholinesterase to minimise these effects.
Other drugs, such as prescription tranquilizers and antidepressants, can help reduce anxiety, control
outbursts and improve mood. By leveling out the dopamine and serotonin levels in the brain, it is believed
to have a positive effect fro those with AD.
Some doctors have used vasodilators to help increase the blood flow to the brain, in an attempt to help
relieve some symptoms.
There is some evidence that suggests that inflammation in the brain may contribute to AD damage.
Scientists believe that the use of NSAIDs (non steroidal antiinflammatory drugs) may help relieve some
of the swelling, which in turn may improve symptoms. The use of NSAIDs do not slow down the disease
progression, but may help make the person more comfortable with AD.
There has been research done regarding the use of Vitamin E, which has been said and documented
that delay in progression may be as much as 7 months.
Physical activity can help reduce anxiety and restlessness. A person should consult a health care
provider before beginning an exercise program.
A varied diet can keep resistance high and prevent;
- Digestive problems
- Dehydration
- Malnutrition
- Vitamin and mineral deficiencies
A positive attitude by both the patient and the families is an important part of treatment.
9. COMPLICATIONS
On average, people with Alzheimer's disease live four to six years after diagnosis, but
some survive as long as 20 years. Pneumonia is a common cause of death because
impaired swallowing allows food or beverages to enter the lungs, where they can
cause an infection. Other common causes of death include complications from urinary
tract infections and falls.
10. NURSING CARE
1.Kerusakan memori b/d gangguan neurologis ditandai dengan penyakit yang diderita
2.Konfusi kronis b/d penyakit Alzheimer ditandai dengan gangguan memori jangka panjang
dan tdk terjadi perubahan tingkat kesadaran
3.Defisit perawatan diri : berpakaian b/d gangguan neuromuskular ditandai dengan
ketidakmampuan memilih pakaian
Outcomes
Altered
Ability
to
interpretation
execute complex
and response to mental
stimuli
processes
Ability to identify
No change on person,
place,
level
of time
consciousness
Ability to choose
between two or
more
alternatives
Ability
to
cognitively
retrieve
and
Intervetion
Provision
of
a
modified
environment for the patient
who is experiencing a chronic
confusional state
Facilitating family participation
in the emotional and physical
care of patient.
Obtain information about past
and
present
patterns
of
behavior
Monitor cognitive functioning
using a standardized assesment
tool (eg. MMSE)
Ration
al
Outcomes
Intervention
Ration
a
Outcomes
Interventions
Patient
will
accurately recall
immediate,
recent,
and
remote
information
Verbalize being
better able to
remember
Cognitive
orientation
:
ability to identify
person,
place,
and time
Memory: ability
to
cognitively
retreive
and
report previously
stored
information
Ration
al
Alzheimer's Association. 2011. Test for Alzheimer's disease and dementia. Chicago. http://www.alz.org/
accessed on December 5th 2011 at 9:31
Alzheimers Disease Education & Referral Center. 2010. Alzheimers Disease Medications. U.S.
Department of Health and Human Services : National Institute on Aging. http://www.nia.nih.gov/
accessed on 5th December 2011 on 10.15
Anderson, Heather S. 2011. Alzheimer Disease. http://emedicine.medscape.com/article/1134817overview accessed on December 5th 2011 at 9:23
Herdman, Heather T (ed). NANDA International; Nursing Diagnoses : Definition & Classification 20092011. United States of America : Wiley-Blackwell.
O'Connor, Dominic. 2006. Pharmacology of Neuromuscular Blocking Drugs and anticholonesterase.
http://www.anaesthesiauk.com/documents/PharmacologyNMBDsandAnticholinesterasesFinal.pdf
accessed on December 5th 2011 at 9:56
Price, Sylvia A., Wilson, Lorraine M. 2006. PATOFISIOLOGI; Konsep Klinis Proses-Proses Penyakit.
Edisi 6. Volume 2. Jakarta : Penerbit Buku Kedokteran EGC.
Wilkinson, judith M. 2005. Prentice hall nursing diagnosis handbook with NOC Interventions and NOC
outcomes. 8th ed. New jersey : pearson prentice hall