Download Dementias and Neurological Diseases

Dementias and Neurological
Diseases
KATE GILMORE
CHRONIC DISEASES
SPRING 2013
Neurological Diseases & Dementias
 Epilepsy
 Parkinson's Disease
 Cerebral Palsy
 Multiple Sclerosis (MS)
 Muscular Dystrophy (MD)
 Amyotrophic Lateral Sclerosis (ALS) (i.e. Lou
Gehrig’s Disease)
 Dementias
 Alzheimer’s Disease
Types of Neurological Diseases
 Neurological diseases are disorders that affect the brain, spinal cord and nerves
 Affect the nervous system and can cause trouble moving, speaking, swallowing,
breathing and learning as well as problems with memory, senses and mood.
There are more than 600 neurologic diseases.
Major types include:
 Diseases caused by faulty genes: Huntington’s Disease and Muscular Dystrophy
Problems with the way the nervous system develops, such as Spina Bfida
 Degenerative Diseases including Alzheimer’s and Parkinson’s Diseases
 Diseases of the blood vessels that supply the brain, including stroke Injuries to
the spinal cord and brain
 Seizure disorders and epilepsy
 Brain tumors
 Infections of the nervous system including meningitis
(National Institutes of Health)
Epilepsy
 A chronic neurological condition characterized by
recurrent seizures. A seizure happens when abnormal
electrical activity in the brain causes an an involuntary
change in body movement or function, sensation,
awareness, or behavior.
 Causes:
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Stroke
head trauma
complications during childbirth
infections (such as meningitis, encephalitis, cysticercosis, or brain
abscess0
certain genetic disorders
Or no definite cause
Epilepsy – Statistics & Impact
 Epilepsy affects about 2.3 million adults and 467,711 children
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0-17 years of age in the United States.
About 1 in 26 people will be diagnosed with epilepsy at some point
in their lives.
About 150,000 new cases of epilepsy will be diagnosed in
the United States each year.
Accounts for $15.5 billion in direct costs (medical) and indirect
costs (lost or reduced earnings and productivity) each year.
More than one-third of people with epilepsy continue to have
seizures despite treatment.
About 10% of Americans will experience a seizure sometime during
their lives.
About 3% will receive a diagnosis of epilepsy by age 80.
[Centers for Disease Control & Prevention]
Epilepsy & Quality of Life
Parkinson’s Disease
 A chronic and progressive movement disorder involving the
malfunction and death of vital nerve cells in the brain, called
neurons; symptoms tend to worsen over time
 Primarily affects neurons in the an area of the brain called the
substantia nigra.
 Symptoms:
 tremor of the hands, arms, legs, jaw and face
 bradykinesia or slowness of movement
 rigidity or stiffness of the limbs and trunk
 postural instability or impaired balance and coordination
Parkinson’s Disease Foundation
Parkinson’s Disease- Impact & Significance
 Nearly one million people in the U.S. are living
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with Parkinson's disease.
The cause is unknown and presently no cure
Treatment options such as medication and surgery to
manage its symptoms.
Focus on managing care, patient/doctor
communication, nutrition, exercise, support, coping
with symptoms and maintaining a patient’s
independence
Research Efforts:
http://www.pdf.org/en/results_funded
Cerebral Palsy
 Cerebral palsy (CP) is a group of disorders that affect a person’s ability to
move and maintain balance and posture.
 Caused by abnormal brain development or damage to the developing brain
that affects a person’s ability to control his or her muscles.
 Symptoms and physical limitations vary from mild to severe and but do not
change/worsen over time
 Also associated with certain mental disabilities, difficulties with speech and
vision
 Diagnosed in conjunction with childhood development and physical exams
and meeting developmental milestones and confirmed through MRIs,
cranial ultrasounds, or CT scans that image the brain
Cerebral Palsy – Impact & Significance
 CP is the most common motor disability in childhood.
 CP related to brain damage that occurred before or
during birth is called congenital CP. The majority of CP
(85%–90%) is congenital. In many cases, the specific
cause is not known.
 A small percentage of CP is caused by brain damage that
occurs more than 28 days after birth. This is
called acquired CP, and usually is associated with an
infection (such as meningitis) or head injury.
 The CDC estimates that an average of 1 in 303 children in
the U.S. have CP.
Cerebral Palsy – Additional Statistics
 About 764,000 children and adults currently have cerebral
palsy (approximate current prevalence)
 About 500,000 children under age of 18 currently have
cerebral palsy
 About two to three children out of every 1,000 have cerebral
palsy (United States studies have yielded rates as low as 2.3
per 1,000 children to as high as 3.6 per 1,000 children)
 About 10,000 babies born each year will develop cerebral
palsy
 Around 8,000 to 10,000 babies and infants are diagnosed per
year with cerebral palsy (approximate incidence)
 Around 1,200 to 1,500 preschool-aged children are diagnosed
per year with cerebral palsy
Cerebralpalsy.org
Treating/Managing CP
 Optimize mobility
 Manage primary conditions
 Control pain
 Prevent and manage complications, associative
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conditions and co-mitigating factors
Maximize independence
Enhance social and peer interactions
Foster self-care
Maximize ability to communicate
Factors Affecting Life Expectancy with CP
 Number of impairments and disabilities
 Severity level
 Mobility restrictions
 Feeding difficulties
 Seizures
 Cognitive functioning
 Visual acuity
 Respiratory functioning
Economic Impact of CP
 Lifetime costs in 2003 dollars were estimated at $11.5 billion for
persons with cerebral palsy in 2000
Of the $11.5 billion expense for persons with cerebral palsy:
 Indirect costs – 80.6%, or $9.241 billion, accounts for indirect
expenses such as productivity loss due to inability to work;
limitation in the amount or type of work; and premature mortality
 Direct medical costs – 10.2%, or $1.175 billion, includes
physician visits, prescription medications, in-patient hospital stays,
assistive devices, therapies, rehabilitation, and long-term care
 Direct non-medical costs – 9.2%, or $1.054 billion, includes
such expenses special education, home and automobile
modifications
MMWR on January 30, 2004 and titled, “Economic Costs Associated
with Mental Retardation, Cerebral Palsy, Hearing Loss, and Vision
Impairment – United States, 2003.”
Multiple Sclerosis (MS)
 Multiple sclerosis is an autoimmune disease that affects
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the brain and spinal cord (central nervous system)
Worldwide, MS affects about 2.1 million people.
Most people are diagnosed between the ages of 20 and
50, but MS can appear in all age groups.
Two to three times more women than men have been
diagnosed with MS
MS occurs in most ethnic groups, including AfricanAmericans, Asians and Hispanics/ Latinos, but is more
common in Caucasians of Northern European ancestry
Multiple Sclerosis (MS) –
Debated Causes
 Immunologic-generally accepted that MS involves
an immune- mediated process—an abnormal response of
the body’s immune system that is directed against the
myelin in the central nervous system
 Environmental- areas away from the equator have higher
MS prevalence's (Vit D hypothesis), studying clusters,
and other potential exposures, but no causative
environmental factors have been definitively identified
 Infectious – scientists looking at various bacteria and
viruses for associations
 Genetic – not strictly hereditary but direct relative with
MS is associated higher risk of MS
MS & Genetics
 MS is not directly inherited, but genetics may play an
important role in who gets the disease:
 While the risk of developing MS in the general
population is 1/750, the risk rises to 1/40 in anyone who
has a close relative (parent, sibling, child) with the
disease.
 In families in which several people have been diagnosed
with MS, the risk may be even higher.
 Data from twin studies show the risk for an identical twin
is only 1/4—which means that some factor(s) other
than genetics are involved.
www.Nationalmssociety.org
MS Morbidity, Mortality and Treatment
 MS can cause blurred vision, loss of balance, poor
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coordination, slurred speech, tremors, numbness, extreme
fatigue, problems with memory and concentration, paralysis,
and blindness and more.
Permanent physical conditions or may come and go and vary
widely from person to person
Symptoms of MS may mimic those of many other nervous
system disorders. The disease is diagnosed by ruling out other
conditions.
Very rarely, MS can be extreme enough to be fatal, but most
people live normal life-spans and focus is on treatment plan,
self-management.
Medications to slow progression and lessen attacks as well as
physical therapy
Muscular Dystrophy (MD)
 Muscular dystrophies are a group of disorders that result in muscle
weakness and a decrease in muscle mass over time (CDC)
 The disorders within this group differ in the muscles they affect, the
age when signs are first seen, and the genes that cause the
disorders:
 Duchenne and Becker Muscular Dystrophy are most common.
 DBMD is present at birth and mainly affects males.
 DBMD is caused by a change (mutation) in the gene that makes
dystrophin. Dystrophin is a protein found in muscle. Dystrophin is
important because it helps muscles stay healthy and strong.
[CDC]
Duchenne/Becker Muscular Dystrophy (DBMD)
 Duchenne muscular dystrophy (DMD) is the most common form of
muscular dystrophy among children. DMD occurs among
approximately 1 in 3,500 to 6,000 male births.
 A person with DMD loses the ability to walk sometime during the
period when he or she is 7 through 13 years of age, and can live into
their 20s and 30s.
 Becker muscular dystrophy (BMD) is a milder form of muscular
dystrophy. BMD affects about 1 in 18,500 male births. Signs of BMD
are similar to those for DMD. Typically, people with BMD lose the
ability to walk after they are 16 years of age.
 DMD and BMD are called Duchenne/Becker muscular dystrophy
(DBMD). Over time, the muscles of people with DBMD get much
weaker.
DMBD Signs & Diagnosis
 Early Signs:
 Experiencing a delay in walking
 Having large calf muscles
 Falling more often than children of the same age
 Walking on tip toes
 Having problems getting up from a sitting or lying position
 Experiencing a delay in using language
 Doctors use lab tests to diagnose a person with DMD.
Typically, boys with DMD are diagnosed sometime during
the period when they are 3 to 6 years of age.
 Doctors can test the level of creatine kinase (CK), a protein
in the blood. CK levels are higher among people with DMD.
 Doctors can test the gene that makes dystrophin.
 Doctors can do a muscle biopsy to test for dystrophin.
DBMD Treatment
 Currently, no cure for DBMD, there are many
treatments that can help people with the condition.
 Complications occur over time as DBMD progresses.
The main complications of DBMD are problems with
muscle health, bone health, heart health, breathing,
digestion and nutrition, and emotional and mental
health.
 Treatment includes clinical, physical therapy, and
specialists to improve quality of life
Amyotrophic Lateral Sclerosis (ALS)
 Amyotrophic lateral sclerosis (ALS) is a disease of the
nerve cells in the brain and spinal cord that control
voluntary muscle movement.
 ALS is also known as Lou Gehrig's disease.
 In ALS, nerve cells (neurons) waste away or die, and can
no longer send messages to muscles. This eventually
leads to muscle weakening, twitching, and an inability to
move the arms, legs, and body.
 Most commonly, the disease strikes people between the
ages of 40 and 70, and as many as 30,000 Americans
have the disease at any given time. (ALS Society)
Types of ALS
 Sporadic - the most common form of ALS in the
United States - 90 to 95% of all cases.
 Familial - occurring more than once in a family
lineage (genetic dominant inheritance) accounts for
a very small number of cases in the United States - 5
to 10% of all cases.
 Guamanian - an extremely high incidence of ALS
was observed in Guam and the Trust Territories of
the Pacific in the 1950's.
ALS Signs, Symptoms and Risk Factors
 1 out of 10 cases of ALS are due to a genetic defect
http://www.alsa.org/about-als/genetic-testing-forals.html
 Symptoms usually do not develop until after age 50, but
they can start in younger people.
 Symptoms can include loss of muscle strength and
coordination that eventually gets worse and makes it
impossible to do routine tasks such as going up steps,
getting out of a chair, or swallowing.
Symptoms, Diagnosis & Mortality
 Very difficult disease to diagnose. No one test or
procedure to ultimately establish the diagnosis of
ALS. Diagnosis established through a clinical
examination and series of diagnostic tests, often
ruling out other diseases that mimic ALS:
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electrodiagnostic tests including EMG and nerve conduction
velocity (NCV),
blood and urine studies
spinal tap, x-rays, including magnetic resonance imaging
(MRI)
myelogram of cervical spine, muscle and/or nerve biopsy
Genetic testing
ALS Treatment
 A medicine called riluzole helps slow symptoms
 Treatments to control other symptoms
 Physical therapy, rehabilitation, use of braces or a
wheelchair, or other measures may be needed to help
with muscle function and general health.
 Choking, breathing and swallowing issues are
common
 Nutrition is very important as patients with ALS tend
to lose weight
ALS-Associated Mortality
 Over time, people with ALS progressively lose the
ability to function and care for themselves.
 Death often occurs within 3 - 5 years of diagnosis.
(NIH)
ALS Society:
 Half of all people affected with ALS live at least three
or more years after diagnosis.
 Twenty percent live five years or more
 Up to ten percent will live more than ten years.
Dementias
Dementias
 A general term for memory loss and other intellectual
abilities serious enough to interfere with daily life.
 While symptoms of dementia can vary greatly, at
least two of the following core mental functions must be
significantly impaired to be considered dementia:
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Memory
Communication and language
Ability to focus and pay attention
Reasoning and judgment
Visual perception
Causes of Dementia
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Lewy body disease is a leading cause of dementia in elderly adults. People with this condition
have abnormal protein structures in certain areas of the brain.
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Risk of dementia increases with age
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The following medical conditions also can lead to dementia:
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Huntington's disease
Multiple sclerosis
Infections that can affect the brain, such as HIV/AIDS and Lyme disease
Parkinson's disease
Pick's disease
Progressive supranuclear palsy
Some causes of dementia may be stopped or reversed if they are found soon enough, including:
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Brain injury
Brain tumors
Chronic alcohol abuse
Changes in blood sugar, sodium, and calcium levels
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Low vitamin B12 levels
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Normal pressure hydrocephalus
Use of certain medications
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Screening & Diagnoses of Dementias
 There is not one test to determine if someone has
dementia
 Doctors diagnose types of dementia based on
medical history, a physical examination and the
characteristic changes in thinking, day-to-day
function and behavior associated with each type
 Hard to determine the exact type of dementia
because the symptoms and brain changes of different
dementias can overlap.
Alzheimer’s Disease
 A progressive brain disorder that damages and
eventually destroys brain cells, leading to memory
loss and changes in thinking and other brain
functions.
 It usually develops slowly and gradually gets worse
as more brain cells wither and die.
 Ultimately, Alzheimer's is fatal, and currently, there
is no cure.
Alzheimer’s Disease
 Alzheimer's is the most common form of
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dementia
Alzheimer's disease accounts for 50 to 80 percent
of dementia cases.
Up to 5.3 million Americans currently have
Alzheimer’s disease
One in eight older Americans has Alzheimer's
disease.
By 2050, the number is expected to more than
double due to the aging population.
Alzheimer’s Disease
Normal Brain
Brain with
Advanced
Alzheimer’s
How the two
compare
Alzheimer’s Disease
 Scientists have identified several hallmark Alzheimer's
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brain abnormalities, including:
Plaques, microscopic clumps of a protein called betaamyloid peptide
Tangles, twisted microscopic strands of the protein tau
Loss of connections among brain cells responsible
for memory, learning and communication. These
connections, or synapses, transmit information from cell
to cell.
Inflammation resulting from the brain's effort to fend
off the lethal effects of the other changes under way
Eventual death of brain cells and severe tissue
shrinkage
Signs & Symptoms of Alzheimer’s
 10 important warning signs:
 Memory loss that disrupts daily life
 Challenges in planning and solving problems
 Difficulty completing familiar tasks
 Confusion with time or place
 Trouble understanding visual images and spatial relationships
 Problems with words in speaking or writing
 Misplacing things or unable to retrace steps
 Decreased or poor judgment
 Withdrawal from social activities or work
 Changes in mood or personality
Risk Factors for Alzheimer’s Disease
 Age- the single greatest risk factor for Alzheimer’s Disease,
though it is not a normal part of the aging process.
 Starting at age 65, the risk of developing the disease doubles
every five years.
 By age 85 years and older, between 25 and 50 percent of
people will exhibit signs of Alzheimer’s disease.
 Family History – those with parent, brother, sister or child
with Alzheimer’s are more likely to develop the disease. The
risk increases if more than one family member has the illness.
When diseases tend to run in families, either heredity
(genetics) or environmental factors, or both, may play a role.
Modifiable Risk Factors
 Studies looking into potential modifiable factors that
may affect/be associated with Alzheimer’s:
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increasing physical activity
diet rich in fruits and vegetables
maintaining social engagement
participating in intellectually stimulating activities
prevention of diseases that damage blood vessels such as heart
disease, stroke, and type 2 diabetes
Other studies are investigating the use of vitamin C and E as
well as nonsteroidal anti-inflammatory drugs such as
ibuprofen, naproxen, and indomethacin.
Diagnosing Alzheimer’s
 There is no single test that can show whether a
person has Alzheimer's. (NO GOLD STANDARD!)
 Also, the clinical definition is not based on strict criteria
 While physicians can usually determine if a person has
some sort of dementia, it may be difficult to determine
the exact cause.
 Diagnosing Alzheimer's requires careful medical
evaluation, including:
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A thorough medical history
Mental status testing
A physical and neurological exam
Tests (such as blood tests and brain imaging) to rule out other causes
of dementia-like symptoms or other conditions
Genetics & Alzheimer’s Disease
 When Alzheimer's disease is caused by deterministic
genes, it is called “familial Alzheimer's disease,” and
many family members in multiple generations are
affected.
 Scientists have pinpointed several rare genes that
may directly cause this type of Alzheimer's.
 People who inherit these rare genes tend to develop
symptoms earlier/early onset
Treating Alzheimer’s
 No known cure for Alzheimer's disease
 Active medical management can improve the quality of life for
individuals living with Alzheimer's disease and their
caregivers.
 For some people in the early and middle stages of the disease,
drugs are available that may help prevent some symptoms
from becoming worse for a limited time or help control
behavioral symptoms of Alzheimer's disease such as
sleeplessness, agitation, wandering, anxiety, and depression.
 Currently, there are five FDA-approved Alzheimer's drugs that
treat the symptoms of Alzheimer's — temporarily helping
memory and thinking problems in about half of the people
who take them. But these medications do not treat the
underlying causes of Alzheimer's.
Early Onset Alzheimer’s
 Younger-onset (also known as early-onset) Alzheimer's
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affects people younger than age 65.
Nearly 4 percent of the more than 5 million
Americans with Alzheimer’s have younger-onset.
Implications for families, career and economy
Often harder to diagnose/differentiate from other
conditions or dementia
Often associated with genetics. People with rare
genes/familial type tend to develop symptoms sooner –
in their 30s, 40s and 50s.
Alzheimer’s Disease Myths
 Myth 1: Memory loss is a natural part of aging.
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Myth 2: Alzheimer’s disease is not fatal.
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Myth 3: Only older people can get Alzheimer's
Myth 4: Drinking out of aluminum cans or cooking in aluminum pots and pans can
lead to Alzheimer’s disease.
 Myth 5: Aspartame causes memory loss.
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Myth 6: Flu shots increase risk of Alzheimer’s disease
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Myth 7: Silver dental fillings increase risk of Alzheimer's disease
 Myth 8: There are treatments available to stop the progression of Alzheimer's
disease
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http://www.alz.org/alzheimers_disease_myths_about_alzheimers.asp
Mortality- Alzheimer’s Disease
 Alzheimer's disease is the sixth-leading cause of
death in the United States
 Only cause of death among the top 10 in the United
States that cannot be prevented, cured or even
slowed.
 The fifth leading cause among persons age 65 and
older [CDC]
Geographic Distribution
Change in Death Rates- 2000 to 2010
Costs of Care for Alzheimer’s and Dementias
 In 2012, 15.4 million caregivers provided more then
17.5 billion hours of unpaid care valued at $216 billion.
 In 2012, the direct costs of caring for those with
Alzheimer’s or other dementias to American
society will total an estimated $200 billion,
including $140 billion in costs to Medicare and Medicaid.
 In 2013, Alzheimer's will cost the nation $203 billion.
This number is expected to rise to $1.2 trillion by 2050.
Costs of Care for Alzheimer’s and Dementias
Healthy People 2020
 Goal: Reduce the morbidity and costs associated with,
and maintain or enhance the quality of life for, persons
with dementia, including Alzheimer’s disease.
 Objectives:
 Increase the proportion of persons with diagnosed
Alzheimer’s disease and other dementias, or their
caregiver, who are aware of the diagnosis (Medicare
Current Beneficiary Survey)
 Reduce the proportion of preventable hospitalizations in
persons with diagnosed Alzheimer’s disease and other
dementias (Health and Retirement Survey)
Research Efforts- Alzheimer’s Disease
 Drugs drugs in development aim to modify the disease
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process itself, by impacting one or more of the many
wide-ranging brain changes that Alzheimer's causes.
Gauging treatment impact with brain imaging and
biomarkers
Learning from families with rare Alzheimer-causing
genetic changes
Recent study on brain “pacemakers” which have made
the news.
http://blog.alz.org/where-we-are-today-in-alzheimersresearch-a-year-in-review/