KATE GILMORECHRONIC DISEASES

SPRING 2013

Dementias and Neurological Diseases

Neurological Diseases & Dementias

EpilepsyParkinson's DiseaseCerebral PalsyMultiple Sclerosis (MS)Muscular Dystrophy (MD)Amyotrophic Lateral Sclerosis (ALS) (i.e. Lou

Gehrig’s Disease)DementiasAlzheimer’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: 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 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 with Parkinson's disease. 

The cause is unknown and presently no cureTreatment 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 palsyAround 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 palsyCerebralpalsy.org

Treating/Managing CP

Optimize mobilityManage primary conditionsControl painPrevent and manage complications,

associative conditions and co-mitigating factors

Maximize independenceEnhance social and peer interactionsFoster self-careMaximize ability to communicate

Factors Affecting Life Expectancy with CP

 Number of impairments and disabilitiesSeverity levelMobility restrictionsFeeding difficultiesSeizuresCognitive functioningVisual acuityRespiratory 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 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 MSMS occurs in most ethnic groups, including African-

Americans, 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 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-for-als.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: 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 moreUp 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: Memory Communication and language Ability to focus and pay attention Reasoning and judgment Visual perception

Causes of Dementia

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.

Risk of dementia increases with age

The following medical conditions also can lead to dementia: 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: Brain injury Brain tumors Chronic alcohol abuse Changes in blood sugar, sodium, and calcium levels Low vitamin B12 levels Normal pressure hydrocephalus Use of certain medications

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 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 brain abnormalities, including:

Plaques, microscopic clumps of a protein called beta-amyloid peptide

Tangles, twisted microscopic strands of the protein tauLoss 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: 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 criteriaWhile 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: 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 diseaseActive 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 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 economyOften harder to diagnose/differentiate from other

conditions or dementiaOften 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.

Myth 2: Alzheimer’s disease is not fatal.

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.

Myth 6: Flu shots increase risk of Alzheimer’s disease

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

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 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-alzheimers-research-a-year-in-review/