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9 Neurodegenerative Diseases of the Brain: Huntington’s, Parkinson’s, and Dementias

Kenneth Lambert/Associated Press

Learning Outcomes After reading this chapter, you should be able to

• Define neurodegenerative disease.

• Describe the symptoms, genetic role, and course of Huntington’s disease, Parkinson’s disease, and dementia.

• Consider how the biology of an inherited disease has an impact on affected individuals and their families.

• Describe how neurodegenerative disease affects physical, psychological, and social domains.

• Use Bronfenbrenner’s ecological model of human behavior to examine the micro-, meso-, and macro-level factors that influence the onset, experience, and management of neurodegenerative diseases.

• Discuss the stages of neurodegenerative diseases through the life span.

• Describe the social impact of neurodegenerative disease and the stigmatization experienced by people with a neurodegenerative disease.

• Discuss the changing demands on caregivers as a person with a neurodegenerative disease approaches late-stage disease.

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Section 9.1 Introduction to Neurodegenerative Disease

9.1 Introduction to Neurodegenerative Disease Huntington’s disease (HD), Parkinson’s disease (PD), and Alzheimer’s—along with other dementias—are the three most common forms of neurodegenerative diseases. In this intro- ductory section, the impact of an inherited disease on a family is discussed as well as the physical, psychological, and social problems seen with these forms of neurodegenerative dis- eases. In the next two sections, Bronfenbrenner’s system of human ecology is first applied to these diseases to increase our understanding of them, and then the impacts of these diseases over the life span are discussed. The concluding section covers social issues pertaining to these diseases, including stigmatization and caregiver burden.

Definition and Brief History In neurodegenerative disease, the neurons in the brain are affected by disease, leading to the dysfunction and death of cells in specific areas of the brain. Examples include Alzheimer’s disease and other dementias, HD, and PD. Other neurodegenerative diseases, which we will not discuss in detail in this chapter, include prion diseases and motor neuron diseases. Prion diseases involve the misfolding of specific brain proteins; bovine spongiform encephalopathy (“mad cow disease”) is a prion disease. Motor neuron diseases block signals to the voluntary muscles of the body. This means the signals from the brain that tell muscles to move no longer work properly.

Although it is not clear what starts neurodegeneration, the affected person begins to have symptoms as more and more cells in a part of the brain die. Symptoms of a neurodegenerative disease can vary widely and depend on which parts of the brain are affected. For example, in one person, nerve cells in the part of the brain that controls movement, which is the motor center, may be damaged, causing the person to develop a tremor (involuntary trembling or shaking, usually in one limb). If a portion of the brain controlling speech is damaged, it may be difficult for that person to form sentences or interpret what others are saying.

Evidence shows that neurodegenerative disease is becoming more common. Between 1990 and 2015, the worldwide burden of neurodegenerative disease, which includes mortality, disability, and decreased life expectancy, increased dramatically. There was a 65% increase in the number of deaths due to PD from 2000 to 2015 (see Figure 9.1) (Statista, 2018). In that same time frame, the number of “deaths from Alzheimer’s disease have increased 123%” (Alzheimer’s Association, 2018a). The total number of people dying from PD and demen- tias has increased dramatically during the last 20 years. The reason for this increase is still unclear.

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Figure 9.1: Parkinson’s disease death rate in the United States from 2000 to 2015 (per 100,000 population)

The death rate from Parkinson’s disease continues to increase. The reason for this increase is unclear.

Source: Statista. (2018). Parkinson’s disease death rate in the U.S. from 1999 to 2015 (per 100,000 population). Retrieved from https:// www.statista.com/statistics/784319/parkinsons-disease-death-rate-us/

As more people live longer, more people reach advanced ages when neurodegenerative dis- eases are likely to develop. Since the 1970s, doctors have had better diagnostic testing tools, and people are more inclined to see a doctor about changes in their health. As a result, the number of people diagnosed with neurodegenerative diseases has increased. Lifestyle behav- iors, exposures to chemicals, and infections are being investigated as potential causes for the increase in incidence rate. In addition to their classification as a neurodegenerative disease, both HD and PD are sometimes considered movement disorders. Abnormal movement, also known as ataxia, is a major aspect of both HD and PD. This section explores the biology of HD and PD and how the biology of each disease leads to various physical, psychological, and social problems. Table 9.1 compares aspects of HD and PD side by side.

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Table 9.1: A comparison of Huntington’s disease and Parkinson’s disease

Huntington’s disease Parkinson’s disease

Autosomal dominant, genetically inherited diseasea 90% of cases are sporadic, meaning not due to an inherited genetic causeb

Causes progressive movement, cognitive (mental), and behavioral symptomsc

Four major areas are affected: the motor system, cognition, behavior and emotion, and the autonomic nervous systemd

In the United States, about 30,000 people are diagnosed with HD; more than 250,000 others are at risk for having inherited HDe

U.S. prevalence between 500,000 and 1,500,000 (second most common neurodegenerative disease after Alzheimer’s disease)f

Overproduction of the neurotransmitter dopamine is at least partly responsible for movement disorders in HDa

Dysfunction and death of neurons in the substantia nigra decrease the amount of dopamine available to stimulate nerves in the brain’s motor regions, and this lack of dopamine creates motor symptomsg

Onset: usually occurs between ages 30 and 50h Onset: usually during ages 50s or 60sg

Predictive testing available (85–90% of people at risk for HD do not undergo genetic testing)i

No objective test for PD; diagnosis based on clinical observationj

Motor or movement symptoms often become evident in ages 40s or 50se

Early symptoms include impaired sense of smell, constipation, REM sleep behavior disorder, slow reaction time, excessive daytime sleepiness, and impaired executive functionj

A progressive disease with no current treatment that can slow down, stop, or reverse its coursea

A progressive disease with no current treatment that can slow down, stop, or reverse its coursek

Classic motor symptom is chorea (dancelike, uncontrolled, rapid, and jerky body movements); other symptoms include personality changes, mood swings, depression, forgetfulness, impaired judgment, slurred speech, difficulty swallowing, and significant weight losse

Classic motor symptoms include tremor, rigidity or stiffness, bradykinesia, impaired gait, and postural instability or balance problemsd

Treatment goals are palliative: to reduce symptoms, maintain functioning, and maximize QOLe

Treatment goals are palliative: to reduce symptoms, maintain functioning, and maximize QOLk

Speech and language therapy, extra nutrients, physical therapy, and drugs that only treat symptoms (e.g., agitation, depression, and chorea)e

Drugs used to treat motor symptoms either directly replace dopamine, delay its breakdown, or stimulate its synthesis and release (combination of Levodopa and Carbidopa, which replaces the brain’s decreased dopamine production)k

Death from medical complications of the underlying neurological disorder often occurs 15–20 years after clinical diagnosisc

Mortality risk, over a 20-year period from disease onset, is approximately twice that seen in a population of people without PDl

Sources: a: National Institute of Neurological Disorders and Stroke (NINDS), 2018b; b: Fritsch et al., 2012; c: Solberg, 2018; d: PubMed Health Glossary, n.d.; e: Huntington’s Disease Society of America (HDSA), 2018; f: The Michael J. Fox Foundation, 2018; g: NINDS, 2018c; h: Woodard & Kant, n.d.; i: Nance, 2011; j: Parkinson’s Foundation, 2018a; k: Bhandari, 2012; l: Driver, Kurth, Buring, Gaziano, & Logroscino, 2008.

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Huntington’s Disease The condition we now know as HD was described in the medical literature in 1872 by the physician George Huntington. The disease was initially named Huntington’s chorea because of the dancelike, uncontrolled, rapid, and jerky body movements seen in people with HD (cho- rea is derived from the Greek word for “dance,” from which we get words like choreography). It became Huntington’s disease in the 1980s, when nonmovement symptoms (e.g., cognitive and behavioral) were added to the symptomatology.

Genetic Role HD is an inherited disease that causes progressive movement, cognitive, and behavioral symp- toms. Eventually, the person with HD becomes completely dependent on others for activities of daily living, which are self-care activities such as feeding, dressing, grooming, bathing, having mobility, working, and homemaking. Unlike many inherited diseases, HD is autosomal dominant, meaning that the gene is not sex-linked and that a child needs only one copy of the relevant gene for the condition to manifest. In the case of HD, the relevant gene is a defec- tive version of the huntingtin gene. Thus, if either parent has the defective gene, a child will have a 50% chance of inheriting it (Figure 9.2) (NINDS, 2018b). Researchers identified the gene series causing HD in 1993. As the gene responsible for HD has been identified, patients may opt for testing. The decision to have testing done is a personal one. It should not be done under pressure and the person should have counseling, regardless of the testing outcome.

Father

Mother

hhHh Hh

Each child of a parent with Huntington's disease has a 50% chance of inheriting the disease.

Figure 9.2: Autosomal dominant inheritance in Huntington’s disease

In this figure, H indicates the dominant defective huntingtin gene, and h represents the recessive normal gene. Children with hh do not have the defective gene and will not get the disease, but those with Hh have one copy of the defective gene and will eventually get the disease, unless death from other causes occurs first.

Source: Adapted from Nance, M., Paulsen, J.S., Rosenblatt, A., & Wheelock, V. (2011). A physician’s guide to the management of Huntington’s disease (3rd ed.), D. Lovecky & K. Tarapata (Eds.), p.16. Copyright © Huntington’s Disease Society of America (HDCA). Used by permission.

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The fewer the CAG repeats, the later the onset of the disease. A person with 39 CAGs will likely be diagnosed with HD in their mid-60s. A person with 50 or more CAGs will likely be diagnosed in their 20s or 30s (Woodard & Kant, n.d.). Symptoms can begin before the age of 20 years: This is known as juvenile Huntington’s disease.

HD cases are all over the world, but with differences in frequency in different populations. In the United States, HD currently has a prevalence (the proportion of a specific population with the disease at a given time) of 5–10 per 100,000 among people of European descent. The prevalence of HD among people of African, Asian, or Native American descent is one tenth of that seen in people of European descent: approximately 0.4 per 100,000 (Centre for Molecu- lar Medicine and Genetics, 2011).

Clinical Course The course of HD varies widely. Central structures of the brain—the putamen and caudate nuclei—shrink in size, or atrophy, which leads to the onset of symptoms. According to the University of California, San Francisco (UCSF), the characteristic triad includes the following:

1. physical symptoms (e.g., involuntary movements, restlessness, fidgety, loss of bal- ance, awkward gait, poor coordination, dysarthria [difficulty speaking])

2. cognitive changes (e.g., memory loss, inability to multitask, poor calculations, disorganization)

3. emotional and behavioral disturbances (e.g., depression, apathy, paranoia, anger, withdrawal, anxiety) (2018b, para. 7)

UCSF provides the following description of symptoms observed in HD patients as the disease progresses:

Early symptoms may include personality changes, such as mood swings, irri- tability, apathy, depression, anger, or aggression. Early in the disease, cognitive

The risk for developing HD is determined by the number of CAG (a DNA trinucleotide) repeats in the huntingtin gene. Everyone possesses the huntingtin gene; HD occurs when mutations or transcription errors result in a defective version of the gene with too many CAG repeats (see Table 9.2).

Table 9.2: Number of CAG repeats and outcomes for Huntington’s disease

Number of CAG repeats Outcomes

≤ 28 Normal range; individual will not develop HD

29–34 Individual is not at risk of developing HD, but the next generation is at risk

35–39 Some but not all individuals will develop HD; the next generation is at risk

≥ 40 Individual will develop HD, unless they die from another cause first

Source: National Institute of Neurological Disorders and Stroke (NINDS). (2018b). Huntington’s disease: Hope through research. Retrieved from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Hope-Through-Research/Huntingtons -Disease-Hope-Through

https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Hope-Through-Research/Huntingtons-Disease-Hope-Through

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decline may manifest as memory and learning difficulties, judgment impair- ment, and trouble with driving, answering questions, or making decisions. As the disease progresses, concentration and focus on intellectual tasks become increasingly difficult. Weight loss not due to decreased caloric intake is a com- mon feature of patients with HD. (2018b, para. 7)

Motor or movement symptoms often become evident in a person’s 40s or 50s, but subtle cog- nitive or emotional problems may appear years earlier. For instance, a person with HD might have difficulties with short-term memory or organizing daily activities long before showing the characteristic chorea. The non-motor aspects of HD—particularly thinking, behavioral, and emotional problems—are the ones that first affect the ability to function at work and at home.

HD is a progressive disease. No treatments can slow down, stop, or reverse its course (NINDS, 2018b). The goal of treatment is to reduce symptoms, maintain functioning, and maximize QOL for the patient and the caregiver. Allied health professionals, such as occupational and physical therapists, speech and language therapists, and nutritionists, play a role in achieving these goals.

Parkinson’s Disease James Parkinson first described shaking palsy, which we now know as PD, in 1817. Palsy is an obsolete term for an uncontrollable tremor (it now refers to some forms of paralysis). Although tremor is a common, first observable symptom, not all people affected by PD have tremor, and the disease affects much more than the muscles or motor system. Four major areas of the body are often affected by PD: the motor system; cognition or thought; behavior and emotion; and the autonomic nervous system (ANS). The ANS controls the automatic functions—the functions people never have to think about—in the body, such as breathing, heart rate, glandular processes, urination, and digestion. The freeze, fight, or flight response and the rest-and-digest functions are governed by the ANS as well (PubMed Health Glos- sary, n.d.).

Recently, the non-motor aspects of PD, which can be much more troublesome, have been gain- ing more attention. According to the Parkinson’s Foundation (2018a), non-motor symptoms of PD can include the following:

• Mood disorders such as depression, anxiety, and irritability • Cognitive changes such as problems with focused attention and planning, slowing of

thought, language and memory difficulties, personality changes, dementia • Hallucinations and delusions • Orthostatic hypotension (drop in blood pressure when standing, light-headedness) • Sleep disorders such as insomnia, excessive daytime sleepiness (EDS), rapid eye

movement behavior disorder (RBD), vivid dreams, talking and moving during sleep, restless leg syndrome (RLS)/periodic leg movements disorder (PLMD)

• Constipation and early satiety (a feeling of fullness after eating lesser amounts) • Pain • Fatigue • Vision problems

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• Excessive sweating, especially of hands and feet, with no or little exercise • Urinary urgency, frequency, and incontinence • Loss of sense of smell • Sexual problems • Weight loss or weight gain • Impulsive control disorders such as binge eating, excessive shopping, or gambling,

usually a side effect of medications (para. 3)

The presentation and course of the disease are extremely variable. Symptoms cannot be gen- eralized from one person to another.

Etiology Unlike HD, purely genetic causes of PD are rare and account for less than 10% of cases. The rest of the PD cases are sporadic, meaning they are not due to an identified, inherited genetic cause. The current thinking is that people may inherit the susceptibility to PD, which, together with an environmental trigger, produces the disease. There is a significant amount of data suggesting that a person’s exposure to pesticides or herbicides is a common environmental trigger (Fritsch et al., 2012).

There are no specific tests to confirm PD. The diagnosis is made based on the presenting symptoms, after ruling out other possible conditions suggested by those presenting symp- toms. Because there is no objective test for PD, diagnosis is based on clinical observation, and as a result, misdiagnosis is common. An estimated one million people in the United States have PD (The Michael J. Fox Foundation, 2018). This makes PD the second most common neurodegenerative disease—after Alzheimer’s disease, which afflicts more than 5.7 million people (Alzheimer’s Association, 2018a). The prevalence of PD increases with age; is 50% higher in men than in women; and is about 50% lower in Americans of African and Asian descent, compared to those of European descent (Parkinson’s Foundation, 2018a).

Since the early 1960s, researchers have been discovering clues about what goes wrong in the nerve cells of people with PD. The substantia nigra, a structure in the brain, supplies the neurotransmitter dopamine, which is needed for normal movement. A neurotransmitter is a chemical produced by one neuron that acts on another neuron to pass signals through the nervous system. Dysfunction and death of neurons in the substantia nigra decrease the amount of dopamine available to stimulate nerves in the brain’s motor regions, and this lack of dopamine creates motor symptoms. Because the brain is so good at compensating for losses, it is estimated that fully 60–80% of the cells in the substantia nigra die before the onset of PD motor symptoms, meaning that the deterioration of brain cells begins many years before most people are diagnosed with PD (NINDS, 2018c). Once the loss of dopamine was discovered as a key to motor problems in PD, strategies to replace it soon followed. Today, many of the drugs used to treat PD motor symptoms either directly replace dopamine, delay its breakdown, or stimulate its synthesis and release.

PD is also associated with autonomic nervous system dysfunction, which may be responsible for some of the non-motor symptoms of PD. Non-motor symptoms may appear for as long as 10 years before the first motor symptoms appear; however, because non-motor symptoms are subtle and not easily recognized, they do not usually lead to a diagnosis of PD. Even so,

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non-motor symptoms can provide valuable clues to a clinician who suspects PD and asks the right questions.

Clinical Course Symptoms of PD may be subtle at first and usually progress very slowly. They are often con- sidered part of normal aging. However, early symptoms that strongly correlate with eventual PD diagnosis include an impaired sense of smell, constipation, slow reaction time, excessive daytime sleepiness, and impaired executive function. Executive functions are the brain’s higher cognitive tasks, which include organizing information, solving problems, forming con- cepts, and making decisions. One study found that, compared with people who had none of the aforementioned symptoms, those who had two or more of the symptoms were 10 times more likely to develop PD (Ross, Abbott, Petrovitch, Tanner, & White, 2012). Other common symptoms seen in people who later develop PD include depression and REM sleep behavior disorder, in which people act out violent dreams, putting themselves and their bed partners at risk for injury (Arnulf, 2012). Rapid eye movement (REM) sleep is the dream portion of the sleep cycle. Normally, people cannot act out their dreams because their muscles are paralyzed during the REM sleep phase. Therefore, it may be useful to question the patient’s bed partner if the clinician suspects PD.

Classic motor symptoms—tremor, rigidity or stiffness, bradykinesia (slowness in starting movement), impaired gait (walking problems), and postural instability or balance prob- lems—are most likely to lead to a PD diagnosis. Motor symptoms usually appear during a person’s 50s or 60s; the appearance of motor symptoms before age 50 (found in about 10% of PD cases) is called early-onset PD (onset means the first appearance of symptoms); the appearance of motor symptoms before age 20, which is very rare, is called juvenile parkinson- ism (NINDS, 2018c). Table 9.3 presents the stages of the disease as it progresses.

Table 9.3: Stages of Parkinson’s disease

Stage Description

Prodromal symptoms May develop years before diagnosis and include anxiety, depression, fatigue, loss of sense of smell, mild cognitive problems, and REM sleep behavior disorder

Stage 1 Mild symptoms (e.g., tremor starts in one limb; rigidity) affect one side of the body; poor posture; lack of facial expressions

Stage 2 Symptoms affect both sides of the body; minimal disability; posture and gait affected

Stage 3 Early balance problems walking or standing; difficulty with speech; movements slow down significantly; moderate to severe generalized dysfunction

Stage 4 Severe symptoms; assistance is required with walking, which is slower and more rigid; difficulties performing tasks of daily living; dementia may develop; tremors may recede

Stage 5 Person is unable to walk or stand unaided; may use a walker, depend on a wheelchair, or be confined to a bed; requires constant care

Source: Parkinson’s Foundation. (2018b). Stages of Parkinson’s. Retrieved from http://www.parkinson.org/Understanding- Parkinsons/What-is-Parkinsons/Stages-of-Parkinsons

http://www.parkinson.org/Understanding-Parkinsons/What-is-Parkinsons/Stages-of-Parkinsons

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Dementia Associated With PD Dementia is a major factor in the disability progression, a diminishing QOL, and the need for placement in a skilled nursing facility. Clinicians agree that dementia is 4–6 times more likely to appear in people with PD than in the general population and is more likely to manifest the longer the person has the disease (Aarsland & Kurz, 2010).

Scientists have begun to understand the mechanisms that are responsible for neuronal loss in PD: An accumulation of protein aggregates, or clumps, within nerve cells interferes with normal function and eventually kills the cell. The protein aggregate in PD is alpha-synuclein. In nerve cells, aggregates of alpha-synuclein form Lewy bodies and are visible under a micro- scope. Lewy bodies are present in PD and some related neurodegenerative diseases (Jellinger, 2012). After a person has lived with PD for a number of years, Lewy bodies may form and cause dementia. This is Parkinson’s disease dementia, or PDD. Dementia patients who do not have PD but who do have Lewy bodies have Lewy body dementia (Davis Phinney Foundation for Parkinson’s, 2018).

Lewy body dementia shares many features with PD dementia, and many people believe the two are part of the same disease spectrum. To distinguish between them, clinicians have decided on the following standard: if signs of dementia are apparent before or within a year after the appearance of motor symptoms, then the formal diagnosis is Lewy body dementia; if the signs of dementia appear more than a year after the appearance of motor symptoms, then the diagnosis is PD dementia (Dodel et al., 2008). Survival rates are like those seen in Alzheimer’s disease, averaging eight years after diagnosis. During this time, patients become increasingly disabled and eventually need assistance for all activities of daily living.

Dementia Dementia is not a specific disease. Rather, it is a cluster of symptoms affecting thinking and social interactions that are severe enough to interfere with social or occupational function- ing. Dementia broadly consists of several different brain disorders, including Alzheimer’s dis- ease, Lewy body dementia, vascular dementia, frontotemporal dementia, and PD and HD, as previously addressed in this chapter. Dementia is more prevalent among people older than 60 years of age, although there are some dementias that can develop at earlier ages, such as frontotemporal and young-onset Parkinson’s disease.

As people age, they may experience slightly slowed thinking and mild memory problems. This is a normal part of aging. Mild cognitive impairment is a condition that indicates a greater loss in memory than what is normal for the patient’s age, but there are no changes in the patient’s personality (UNC School of Medicine, Department of Neurology, 2018). Dementia goes beyond the typical outcomes of aging and usually results from neurons stopping their function, losing connections to other cells, or dying.

Symptoms of dementia include one or more of the following: memory problems; difficulty with communicating; difficulty with problem solving; difficulty with planning and organizing; difficulty with orientation in space (getting lost); difficulty with controlling emotions; agita- tion; paranoia—the unwarranted belief that people are threatening some form of harm; and hallucinations.

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Alzheimer’s Disease The most common form of dementia is Alzheimer’s disease. Symptoms occur in stages. In the early, or mild, stage, symptoms include apathy, depression, poor judgment, and confu- sion. The second stage, called moderate stage, includes emotional outbursts and behavioral changes. Late stage, or severe stage, includes trouble walking, speaking, and swallowing, as well as severe memory loss (Alzheimer’s Association, 2018b).

The Alzheimer’s Association (2012) has estimated that in 2012, 5.4 million people in the United States had Alzheimer’s disease, including 200,000 who were less than 65 years old. In 2018, there were 5.7 million people in the United States who had Alzheimer’s disease and between 220,000 and 640,000 of them were younger than 65 years old (Texas Health and Human Services, 2018). The burden of disease, which is the loss of healthy life years due to disabling disease, in U.S. society is expected to grow rapidly, as the aging of the nation’s baby boomer population is projected to increase the prevalence of Alzheimer’s disease to between 11 and 16 million people by 2050. Alzheimer’s disease places a tremendous financial and emotional burden on the family and society because of the increased need for care between diagnosis and death, a period that is usually four to eight years but may be as long as 20 years (Alzheimer’s Association, 2018a).

As in HD, some forms of early-onset Alzheimer’s disease occur in those who carry genes that ensure that they will develop dementia. Early-onset Alzheimer’s disease appears in people who are in their 30s, 40s, or 50s, and it is caused by a mutation in one of three different genes (Alzheimer’s Association, 2018a). Fortunately, these mutations are relatively rare: less than 1% of all cases of Alzheimer’s disease are due to one of these mutations. For older-onset Alzheimer’s disease (65+ years), the greatest risk factor is advancing age itself. More women than men have Alzheimer’s disease, but this is a result of women living longer than men; at any given age, women are no more likely than men to develop the disease (Alzheimer’s Asso- ciation, 2018a). People who have a first-degree relative—a parent or sibling—with Alzheim- er’s are at somewhat increased risk for developing the disease. Some data suggest that people who have cardiovascular risk factors—such as smoking, obesity, diabetes, physical inactiv- ity—or who have had head trauma are at increased risk of developing Alzheimer’s disease (Alzheimer’s Association, 2018a).

Lewy Body Dementia Lewy body dementia, also known as dementia with Lewy bodies, is a prevalent, progressive form of dementia. Lewy bodies are clumps of misfolded alpha-synuclein protein. They exist in the brains of people with Lewy body dementia and other less common dementias. Their accumulation appears to be toxic to nerve cells. Researchers are attempting to prevent these proteins from misfolding or to remove them before they destroy the cells.

Lewy body dementia is characterized by a decline in cognition combined with the following symptoms: noticeable fluctuations in alertness and attention; drowsiness, lethargy, and long periods of time spent staring into space; disorganized speech; frequent visual hallucinations; and parkinsonian motor symptoms, such as rigidity and shuffling gait. Symptoms appear to be caused by the buildup of Lewy bodies inside neurons in brain areas that control memory and movement (NINDS, 2018a).

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Vascular Dementia Vascular dementia is another form of dementia, which results from brain damage following a stroke or other blockage of the brain’s blood supply. Multi-infarct dementia, the result of many small strokes, is a common form of the disease. Symptoms vary, depending on which brain structures are involved, but unlike Alzheimer’s disease, personality and regulation of emotions are typically not affected until late stages of the disease. Risk factors and contribut- ing factors are high blood pressure and previous stroke and/or heart attack (NINDS, 2018a). Late-stage symptoms include personality changes and emotional dysregulation—the indi- vidual responds to situations in a way that is not expected for the circumstances.

Frontotemporal Dementia Frontotemporal dementia, a rarer form of dementia, results from the degeneration of nerve cells in the front and side (or frontal and temporal) lobes of the brain. These areas of the brain are responsible for decision-making, behavioral control, emotions, use of language, and comprehension. Typical symptoms include difficulties with language as well as changes in personality and behavior that begin when a person is 50 or 60 years old or, rarely, later in life (Alzheimer’s Association, 2018a). According to the University of California, San Francisco (UCSF), the following changes occur with frontotemporal dementia and are what lead the person to seek care from their physician:

1. Gradual and steady changes in behavior The earliest changes typically include a disregard for social conventions, impulsivity, apathy, loss of sympathy or empathy, repetitive or compulsive movements, dietary changes and poor insight, planning and assessment.

2. Gradual and steady language dysfunction The majority of people with one of the language variants have problems expressing themselves, while their memory stays relatively intact. Difficulties [with] reading and writing develop.

3. Gradual and steady weakness or slowing of movement People with FTD often describe a general weakening of their muscles or slowing of their movements. They might feel uncoordinated or like they are walking through water—harder to move and slower going. They may also experience muscle spasms. In a neurological exam, the doctor may also find some slowing of particular eye movements, changes in the typical reflexes and muscle stiffness or slowness. (2018a, para. 10)

Mixed Dementia Often, someone with dementia has symptoms that suggest more than one type of dementia. Although in the past clinicians attempted to diagnose a single type of dementia, now they are more willing to acknowledge that the hallmarks of several different dementias can coex- ist—this is known as mixed dementia. For example, an autopsy may reveal the presence of both neurofibrillary tangles and Lewy bodies, suggesting that the patient had a mixture of Alzheimer’s disease and Lewy body dementia.

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The greatest risk factor for dementia is age, but it seems that dementia is not an inevitable consequence of aging. At least one study of 244 centenarians found that 25% showed no signs of memory deficits, 25% showed signs of transient confusion, and 50% did show signs of clas- sic age-related cognitive impairment (Poon et al., 2012).

9.2 Using Bronfenbrenner’s Model to Better Understand Huntington’s Disease, Parkinson’s Disease, and Dementias

Bronfenbrenner’s ecological model of human development views the individual as the center of several concentric circles of the larger world: the family and other face-to-face interactions with others (micro perspective); the immediate community, including school or work (meso perspective); and the larger society and culture, including factors such as ethnicity, national- ity, and socioeconomic status (macro perspective). Bronfenbrenner’s model posits the inter- action as a two-way phenomenon: the individual both affects and is affected by each sphere of influence.

Micro Perspectives The biology of HD has an immediate effect on the individual and on family dynamics. The most obvious is that any child born into a family with HD is at risk for developing the disease. However, the child’s attitude toward the disease will depend in part on how the family copes. Families have a choice about how to act on the knowledge that HD runs in the family. A family in which one parent has HD might view the future with either hope or dread, depending on their attitudes and circumstances. A parent’s increasing disability is bound to affect how the child views themselves and the surrounding world, and the family’s culture, or coping style, is apt to reinforce that view.

Because the biology of PD and dementia are quite different from HD, the effects of a parent’s PD diagnosis on the individual and on the family dynamics are likely to be quite different as well. The interaction between environmental factors (head injury, medication effects, and exposure to toxins or heavy metals) and a person’s genetic makeup that causes PD and/or dementia is not yet fully understood. Most cases of PD and dementia are sporadic, rather than inherited, so a diagnosis with any of these degenerative brain diseases does not affect biologi- cal family members in quite the same way that an autosomal dominant genetic disorder, such as HD, does. Even though PD and dementia do not determine how the patient’s children will view the future as much, these diagnoses still have a significant impact on families. In a tele- vision interview, Rasheda Ali, daughter of Muhammad Ali, described her family’s reactions to living with PD, which affected her father and was still a mysterious disease at the time of his diagnosis in 1984. She also discussed PD research efforts and her support of stem cell therapy, an experimental therapy in neurodegenerative diseases that transplants stem cells in the individual. Watch this television interview with Rasheda Ali at: (https://www.youtube .com/watch?v=R2MiAkm0osQ).

https://www.youtube.com/watch?v=R2MiAkm0osQ

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Meso Perspectives Degenerative brain diseases can affect how the person with the disease is able to function at work, in school, or in the community. These wider circles of experience interact with the sphere of the family and vice versa. For example, job loss or change, the need to rely on dis- ability benefits, and other changes brought on by a chronic disease affect the person’s rela- tionship with their work, school, family, friends, or church community.

People with HD are likely to show motor symptoms at an earlier age than those with PD. As a result, they are more likely to encounter discrimination and stigma, because expecta- tions in the meso spheres of influence are that younger people should live up to society’s healthy ideal. Those who do not measure up are likely shunned. Also, in terms of the interac- tion between meso and micro spheres, people with HD are more likely to be forced to give up their roles as wage earners at a stage when they are shouldering the most responsibility (e.g., mortgage, child-rearing, paying off student loan debt, caring for ailing parents), thus increas- ing their isolation from the community and their reliance on family members.

People with early-onset Alzheimer’s disease and other types of dementia may show motor symptoms, such as poor posture control, spatial navigation, speed of movement, and bal- ance, as well as “reduced gait speed, loss of muscle strength and bulk, reduced balance. . . . and reduced dexterity” (Buchman & Bennett, 2011, para. 12). People with dementia face the same financial concerns as those with HD or PD. They may have to leave their career prior to retirement age. If they are in a partnership, the loss of one income will be a financial burden to the couple. If the person is single, this diagnosis could require applying for Social Security Disability Insurance. In general, it is very difficult to receive approval for Social Security Dis- ability Insurance. For people with dementia, cognitive changes add a barrier in their ability to complete the forms.

Macro Perspectives Progress in understanding and treating neuro- degenerative and other diseases depends almost entirely on clinical research. The United States devotes significant federal funding for research into various diseases. At the federal level, the National Institutes of Health (NIH) provides funds for research of diseases. Charitable and nonprofit sec- tors of the economy also contribute to efforts to find a cure and treatment for various ailments.

Privately funded research and development are driven not just by the desire to help patients but also by future profits, awarded grants, and the hope of receiving approval from the FDA for new therapies. The economy also plays a role. For example, during economic downturns, funding may dry up, venture capital may be scarce, and charitable giving may decline. Rare diseases have fewer people to speak out on behalf of their sufferers, making it more difficult

PR NEWSWIRE /Associated Press The Parkinson’s Disease Foundation is one of the major charitable, nonprofit organizations that provides funding for PD research.

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to get funding for them than for a widely prevalent or politically popular cause such as breast cancer. The resulting cuts in funding during economic downturns result in fewer highly trained people who will be ready and able to carry out research in the future. All these macro trends can have long-term detrimental effects on those who develop a neurodegenerative disease.

9.3 Huntington’s Disease, Parkinson’s Disease, and Dementia Through the Life Span

As HD is a genetic disorder, people from families who have the disease will be affected by it, both socially and medically, from a young age. In contrast, because PD and dementia are mostly sporadic, are not inherited, and have symptoms that appear later in life, people are much less likely to have advanced warning of their diagnosis.

Huntington’s Disease A person who has at least one parent with HD begins life at risk for the disease. The presence of the gene series means the person will develop HD, unless death from other causes occurs first. Because the consequences are so profound, predictive testing should always be sup- ported with genetic counseling, both before testing and after getting the results. Some people choose early testing when they know a parent has the disease. Others wait for symptoms to begin. Once symptoms begin—but before diagnosis—a person is at greater risk of suicide in this time frame because they are experiencing significant symptoms that create a great deal of fear for their future. Risk of suicide is also high in the early clinical stage of the disease because of the person’s loss of independence (Paulsen, Hoth, Nehl, & Stierman, 2005).

The decision to undergo genetic testing also affects the extended family, as results may sug- gest that others are at risk for the disease. In the United States, 85–90% of people at risk for HD do not undergo genetic testing. They may hesitate out of fear of losing employment or simply losing peace of mind because they have glimpsed their genetic fate (Nance, 2011).

There are two major stages of HD, with sub-stages of each major stage. A person with the defective gene who has no motor symptoms is in the preclinical, premanifest, or prodro- mal stage of the disease. Behavioral and cognitive changes may be among the earliest signs of HD, appearing during the prodromal stage, before motor changes are evident. When motor symptoms first appear, the person enters the clinical stage. Although it is not clear what trig- gers disease onset and the appearance of HD motor symptoms, it is likely the result of lost nerve cells for which the brain can no longer compensate. Nothing can prevent the disease from progressing, but many of the symptoms are manageable. The order in which symptoms appear and their severity differ tremendously from person to person.

Age of onset is another variable. Although onset typically takes place between ages 30 and 50 years, some people experience onset as children, whereas others do not experience it until age 70. However, the more repeats of the defective gene, the younger the onset is likely to be

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Table 9.4: Stages in Huntington’s disease through the life span

Stage Experience

Preclinical (premanifest, prodromal)

At risk • Anxiety about future • Uncertainty about gene status, question whether to get tested (only

10–15% of the population choose to get tested) • Stress of caring for affected parent • Question whether to have children, who may be at risk for getting the

disease

Identified as having gene

• Renewed anxiety about future • Stress of caring for affected parent and own family

Transition • Changes in cognition and behavior (apathy, depression, impulsive behavior, irritability, aggressiveness)

• Increased risk of suicide due to fear of future changes

Clinical

Early stage • Motor symptoms appear • Independent in activities of daily living • Behavioral symptoms more pronounced • Characteristic chorea (uncontrolled movements) begins • Cognitive decline begins with the following:

• inability to learn new information, • inability to retrieve earlier knowledge, • inability to perceive information correctly, • misperception of emotional cues, • unawareness of how their behaviors affect others, • loss of higher thought functions (e.g., adding a list of numbers), • loss of ability to plan and organize activities, and • loss of ability to focus when there are distractions

• Good time to create advance directives • Burden on family mostly psychological • Increased risk of suicide during this stage

Middle stage • Motor symptoms have increased • Loss of ability to drive, work, manage finances, complete household

chores; chorea becomes more pronounced • Begin physical dependence due to loss of ability to perform activities

of daily living • Weight loss a concern • Begin communication difficulties • Burden on family is both physical and psychological • Family needs external support • Advance directives must be in place

(Roos, 2010). Onset before age 20 is juvenile HD and happens in only about 10% of cases. Ini- tial symptoms are more likely to consist of behavioral and learning difficulties at school and stiffness or clumsiness in the arms and legs. The characteristic chorea may not appear until adolescence (ages 13–18). A child with juvenile HD may have seizures and lose skills already learned. The disease also progresses more rapidly in young people than in adult-onset HD. People with juvenile HD are more likely to have a father with HD than a mother with the dis- ease, although the cause or mechanism of this phenomenon is not yet understood. Table 9.4 outlines HD’s onset and development.

(continued)

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Stage Experience

Clinical

Late stage • Severe generalized motor symptoms • Almost complete physical dependence • Severe communication difficulties (individual cannot recall words

but is able to comprehend what others are saying) • Unable to eat (they may require pureed food, thickening agents may

be added to avoid choking, feeding tube may be surgically inserted) • Burden on family both psychological and physical • Individual likely needs assisted living or skilled nursing, but place-

ment is difficult because of behavioral changes (e.g., explosive anger) • Begin hospice care • Death possible from neurological or swallowing problems

Terminal stage

• Lasts 10–20 years • Uncontrolled screaming due to declining ability to communicate • No longer ambulatory (ability to walk) • Unable to eat because of swallowing difficulties; feeding tube

required for nutrition • Require end-of-life assistance from hospice, who will help with medi-

cation to control behavior and pain • Death often occurs from secondary infection (e.g., pneumonia) or

choking on food or drink

Source: Adapted from Roos, R. A. (2010). Huntington’s disease: A clinical review. Orphanet Journal of Rare Diseases, 5(1), 4.

Parkinson’s Disease As noted earlier in this chapter, Parkinson’s disease has a sporadic onset, meaning it has little or no genetic connection. There are no tests that can confirm PD. The diagnosis is confirmed based on the presenting symptoms, after ruling out other possible conditions.

Early Onset It is rare for someone under age 20 to have PD. Juvenile parkinsonism or juvenile-onset PD is genetically determined more often than PD that appears later in life. Because it is so rare, it may take a long time for juvenile-onset PD to be diagnosed. It is a devastating diagnosis for a child to have a disease thought of as an older person’s disease, and many children hide their diagnosis from their friends.

Early-onset PD is discovered and diagnosed at or before age 50. Some individuals are diag- nosed in childhood, including the adolescent years. Early-onset PD has a slower progression of symptoms than is seen in PD diagnosed in the elderly. People with both early- and juvenile- onset forms of the disease seem to respond well to the standard medication combination of Carbidopa and Levodopa (Bhandari, 2012). Even so, the effects of the medications wear off quickly, and frequent dosing is needed to manage symptoms. Raising the dose carries its own risk, as it leads to unwanted movements, including twitching and writhing, known as dyskinesia.

Table 9.4: Stages in Huntington’s disease through the life span (continued)

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Early-onset PD is diagnosed when the person is at the height of career and family responsibil- ities. It can be devastating for the individual and the family to realize that the diagnosis brings an increasingly unknown future to them. People with tremor-dominant type PD, however, can continue to be productive for many years.

Middle Age The majority of people with PD are diagnosed in their 50s and 60s. As the baby boomer gen- eration ages, increasingly more people will be diagnosed with PD. Many people diagnosed at this age can look forward to 20 or more years of reasonably good health and ability and may just need to slow down a bit with time. However, some will become disabled and need signifi- cant help from their families and perhaps from government or nonprofit agencies. Support groups can be valuable resources both for the person with PD and for family members. Before the disease progresses, it is important for people with PD and their family members to iden- tify the resources available in their community, so they do not have to face the future alone.

Parkinson’s Disease in the Elderly and End of Life Diagnosis of PD after age 70 is associated with a more rapid decline in health and abilities than a diagnosis of this disease at a younger age. This rapid decline in health includes move- ment as well as cognitive aspects of the disease. Someone who was adept at using a com- puter may forget how to do basic Internet browsing, for example, and they are likely to need assistance, sooner, with activities of daily living, such as bathing and toileting, not to mention handling finances.

Although pain is a common feature of late-stage PD, it is frequently not well controlled. People with PD have a lower pain threshold, meaning they are more sensitive to pain and experience pain sensations earlier and more strongly than people who do not have PD (Skogar & Lokk, 2016). This can be distressing both for the person with PD and for the family.

If they do not die from other diseases, people with PD most often die from falls or swallowing problems leading to aspiration pneumonia and choking. Advanced planning of care—particu- larly whether the person with PD wishes to have a feeding tube surgically inserted—should be in place well before swallowing becomes a problem.

Dementia While dementia is typically seen in people aged 60 years and older, there are some early-onset dementias. The onset of dementia is typically a gradual process, though there are cases where a medical event (e.g., an adverse reaction to anesthesia during surgery) can cause rapid onset of dementia. Medication can slow the rate of decline or treat accompanying symptoms, such as depression or anxiety, but it does not stop the progression of dementia. It is important to prepare for the late stage of the disease while the person with dementia is still in the early phase. This allows the individual with the disease to actively participate in decisions about care and finances regarding their future.

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Early Onset Early-onset dementia can begin as early as age 30 (Alzheimer’s Association, 2018a). It takes years for some patients to receive a diagnosis. Dementia symptoms usually have a gradual onset and cause confusion and changes in behavior and cognitive function. This can lead to loss of employment during prime income-earning years, which has a profound effect on the dementia patient’s annual income: “More than 60% of those with disabling cognitive impair- ment had annual income below $11,000” (Alzheimer’s Association, n.d., p. 7). Without a diagnosis, participation in employer disability programs (such as reassignment to perform a different job within the organization) and federal or state resources (e.g., Social Security Dis- ability Insurance, Medicare, and Medicaid) are benefits rarely received (Alzheimer’s Associa- tion, n.d.). Further, there are few support programs, such as adult day care, aimed at younger people with dementia. Most support programs for dementia patients are for the elderly, and younger people with dementia report that their needs are much different (Alzheimer’s Asso- ciation, n.d.).

Dementia in the Elderly Older-onset dementia disease occurs at 65+ years. Most types of dementia have a subtle onset. It may begin with trouble remembering names and recent events, which indicates a loss of short-term memory function. People also may become apathetic or depressed and lose interest in their normal activities. As the disease progresses, problems with judgment and confusion may become apparent. A person with dementia has trouble remembering and asks the same question or repeats the same story over and over. Emotional outbursts and other behavioral changes may become a problem as the disease progresses (Alzheimer’s Associa- tion, 2018a).

As the disease progresses, the dementia patient will need assistance with activities of daily living, including eating, personal hygiene, and toileting. In the late stage of the disease, people with dementia have trouble walking, speaking, and swallowing. They often no longer recog- nize family members, which can be very upsetting to those closest to them. Unfortunately, during the course of the disease, it is common for dementia patients to spend the most time as a patient in the late stages of the disease, when they are most impaired and need the most assistance (Alzheimer’s Association, 2018a). The disease’s course and the patient’s rate of decline vary greatly from person to person. Death typically occurs from choking on food or drink or from secondary conditions, such as pneumonia, due to an impaired ability to move.

Preparing for Late-Stage Disease People with neurodegenerative disease and their families need to prepare for dealing with late-stage disease and end-of-life experiences. Most preparations are best done during early- stage disease, when the affected person can participate in the decision-making process. Although people and their families affected by PD may not need to make all of these prepara- tions, it is almost certain that people and their families affected by HD will need to do so.

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Advance Directives Everyone is advised to create advance directives. However, for a person with neurodegen- erative illness, such documents are essential. Advance directives—a living will, a durable power of attorney (also known as financial proxy), a legal document giving another per- son permission to make decisions on your behalf in certain circumstances, as described in the legal document, and the permissions continue in the event the person giving permission becomes mentally incompetent), a medical power of attorney (or health care proxy), and sometimes a do not resuscitate (DNR) order—let others know what kind of care and how much care a person wants if they are unable to speak for themselves. Both the person with the disease and a family caregiver can complete and sign these documents at the same time. Each state’s advance directives (as well as those of Puerto Rico and the District of Columbia) can be downloaded from this web page: (http://www.caringinfo.org/i4a/pages/index.cfm ?pageid=3289).

Skilled Nursing Care Although most people with neurodegenerative dis- eases can remain at home for many years, cared for by their families, it may become necessary to con- sider placement outside the home in later stages of the disease. As much as they might wish to, fam- ily caregivers may not be able to manage the bur- den of physical disabilities or severe behavioral problems. It is best if several family members can jointly investigate placement choices before a crisis arises that requires immediate placement. Ideally, the person who must live in the assisted-living or long-term care (LTC) facility should participate in choosing where to live. The transition will be easier if the person with the condition or disease has a say in the decision. Support groups are helpful with suggestions but visiting a facility will help determine the best choice for the affected family member. Social workers are also helpful in locating skilled nursing facilities that specialize in caring for people with neurodegenerative diseases. Often, the facility must have locked doors to keep patients from leaving the building on their own and becoming lost in the neighboring community.

There are few options for paying for this level of care, and it is very expensive. To the sur- prise of most people, Medicare does not pay for skilled nursing care, except for up to 100 days following a 3-day inpatient hospitalization where rehabilitation services are ordered for the patient upon release. Rehabilitation services include speech therapy, occupational therapy, or physical therapy (https://www.medicare.gov/coverage/skilled-nursing-facility -care.html). If the family has limited income, they may qualify for Medicaid to help pay for this type of care. Because Medicaid is a joint federal and state program, its eligibility requirements

iStock / Getty Images Plus Nursing facilities are an option for those who can no longer be cared for at home.

http://www.caringinfo.org/i4a/pages/index.cfm?pageid=3289

https://www.medicare.gov/coverage/skilled-nursing-facility-care.html

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differ, depending on the state (https://www.medicareinteractive.org/get-answers/cost -sav ing-prog rams-for-people-w it h-medicare/medicare-and-medicaid/how-medicaid -works-with-medicare).

All states require a person applying for Medicaid to use their own funds first to pay for approved expenses before Medicaid will assist with covering payments; this is known as income spend- down. Once the person’s resources have been consumed for approved expenses, such as pre- arranged funeral arrangements, the state will begin covering the person’s care under Medic- aid payment. Since 1993, the federal government has required states to participate in estate recovery, which means that the state places a lien against the person’s estate to recover either a portion or all of the money spent on LTC costs (Heiser, 2018). Essentially, the payments that Medicaid makes for the person’s LTC needs are an interest-free loan and the person or their estate are required to pay back that loan to the state. However, according to attorney and author K. Gabriel Heiser, “if a Medicaid recipient owns no assets when they die, then the state is out of luck. [Medicaid Estate Recovery cannot] go after the beneficiary’s kids for money, either. For the state to be repaid, a beneficiary must have had a legal interest in some kind of asset(s), at the time of death” (2018, para. 6).

A younger person with a neurodegenerative disease is advised to apply for Social Security dis- ability benefits (https://www.ssa.gov/benefits/disability/), which allows a person to start collecting benefits before age 65 and to qualify for Medicare as well. This application is best prepared by a trained social worker or an attorney who specializes in Social Security Disabil- ity Insurance applications.

Hospice Hospice is care for people with terminal illnesses whose remaining life span is expected to be six months or less; it emphasizes making the patient as comfortable as possible while addressing the physical, emotional, and spiritual needs of both the patient and their family. Such care can occur in the home, a hospice facility, or an assisted living or skilled nursing facility. Hospice workers receive specialized training and choose to help patients and their families during this trying time. Instead of thinking about hospice as giving up on hope for the patient, it can be helpful to think of hospice as providing the best care for the patient at the end of their life, without resorting to aggressive medical intervention.

Care and procedures intended to cure the disease are not part of hospice care. While a person who is pursuing curative procedures can receive palliative care at the same time as they are receiving curative care, the focus of hospice care is on those people who wish to only receive palliative care. Medicare, Medicaid, and private health insurance will cover some or all the costs of hospice care. It is important to note that insurance companies only cover the costs directly related to hospice care, such as doctor visits, nursing and nursing aide care, medica- tions, and medical equipment. Costs associated with the patient’s living arrangements, such as LTC, are not covered by insurance companies as part of hospice care.

https://www.medicareinteractive.org/get-answers/cost-saving-programs-for-people-with-medicare/medicare-and-medicaid/how-medicaid-works-with-medicare

https://www.ssa.gov/benefits/disability/

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9.4 Social Issues That Arise From Neurodegenerative Diseases

Neurodegenerative diseases cause a loss of healthy life years and place a tremendous burden on the individual, the family, and society. As the average age of the population increases, the impact of neurodegenerative diseases will become greater. While no treatments can prevent or halt the progression of neurodegenerative disease, treatments focus on reducing symp- toms and easing the burden of the disease on both the person affected by the disease and their caregiver.

Case Study: How My Life Changed After a Diagnosis of Alzheimer’s Disease

Shirley was 56 years old when she noticed she was struggling to do her job, which was very complicated. She couldn’t remember if she had done part of a project, and she began missing due dates. Her boss called her into the office to ask about the errors and challenges she was seeing with Shirley’s work. Shirley was a 25-year employee who had worked her way up to become the financial director of a hospital, and her work for the organization was known to be excellent. Shirley’s boss, who was the CEO, noticed her work was not up to its usual quality. Shirley did not have an explanation for the changes in her work. Because it was concerning to her, Shirley saw her doctor, who referred her to a neurologist. The neurologist performed a cognitive exam and did a PET scan. The tests confirmed that Shirley was in the early stage of Alzheimer’s disease. After speaking with her husband, Tom, and her boss, Shirley decided to resign from her job.

Shirley was able to do many of her favorite hobbies for approximately two years after leaving her job. She enjoyed baking and volunteering at the food bank. One day, as she drove to the food bank, she became lost while driving. She had to stop because she didn’t know where she was. She didn’t know where she was going, and she didn’t know how to get back home. Tom had to leave work to help her. Shirley and her husband agreed she would stop driving alone. This reduced the hours of volunteer work she did, which was a major source of social interaction for Shirley. She felt very isolated after losing her driving abilities.

A year later, Shirley left the house for a walk, and again became lost. This time, Tom came home from work and walked into an empty house. He asked the neighbors if they had seen Shirley. Several said they saw her outside about 45 minutes earlier, but they hadn’t seen her since. Tom got in the car and started driving around the neighborhood. He drove up and down the streets around their home for 15 minutes and did not see Shirley anywhere. He called 911 for emergency assistance. Shirley was wandering the aisles of a grocery store a mile and a half away from their house. She could not recall getting there or why she had stopped at the store. Tom was relieved to find her safe, but he knew that he now had to leave his job to care for Shirley. Tom had just turned 64, so he would have at least a year before he could access his Social Security retirement and Medicare health coverage. When Shirley

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resigned from her job, the household income dropped significantly. However, Tom and Shirley were both good at saving money and they had a rainy-day fund. They would be okay financially for the year without income.

Tom looked at their home and knew the stairs were soon going to be an issue for Shirley. Additionally, the bathrooms were small and helping Shirley with toileting and showering would be very difficult. Tom also knew that he could not manage all of the daily home maintenance, laundry, and food preparation, in addition to caring for Shirley, by himself. Tom decided that they would move to an assisted living center. Shirley was very confused about the move. She enjoyed the recreational activities at the center, such as games and movies, but she couldn’t play cards anymore because she couldn’t remember how to play the game.

Shirley became a quieter person throughout the following year at the assisted living center. When she did talk to others, she was argumentative. Tom struggled to keep up with Shirley’s care. He found he was getting angry with her quickly. Other residents at the center shied away from both Shirley and Tom, so he was spending time only with her, and not participating in the activities at the center.

After a year and a half at the assisted living center, Shirley became incontinent, and Tom was changing her adult diaper often. He knew it was time for a nursing home for Shirley. However, he did not know how to go about finding one or what it would take to move her there. The director at the assisted living center referred Tom to a social worker. The social worker helped Tom with a list of LTC facilities that specialized in dementia care. They discussed the financial obligations of moving Shirley to LTC, and Tom was grateful Shirley had purchased LTC insurance while they were in their late 40s. Tom visited each of the LTC facilities on the list from the social worker, but he didn’t like any of them. He knew he couldn’t continue with providing the care that Shirley needed, but he was conflicted. He wanted to care for his wife, yet he knew he couldn’t give her the care that she needed. He felt angry that he had to make the decision about the LTC facility by himself. He also felt a great deal of guilt and worried that Shirley would not get the kind of care that she needed from strangers. This was the hardest decision of his life.

Critical-Thinking Questions 1. Tom and Shirley planned wisely for their futures. They saved throughout their

lives and had both savings and insurance to take care of the expenses that arose throughout Shirley’s illness. How do people who do not have these financial resources manage the increasing care needs of a person who has dementia?

2. Why is caring for a person who has dementia seemingly more difficult than caring for someone who has a disease that does not alter their cognitive functions?

3. Tom and Shirley both became angry and argumentative. What drives this reaction? Are the causes of this reaction the same, or are there different causes for each of their reactions?

Case Study: How My Life Changed After a Diagnosis of Alzheimer’s Disease, continued

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Social Stigma Social stigma is directed from society toward the individual with a disease or disability. “A central feature of stigma is the perception of an attribute of the stigmatized person that con- veys a devalued social identity within a particular social context” (Williams et al., 2010, para. 3). The individual may be harassed, demeaned, or ignored, and they may lose opportuni- ties other people of the same age would experience (e.g., a job or educational opportunities, housing, moneylending by banks, and voting opportunities). Others will stare at the disabled person or pry information from the individual by asking highly personal and inappropriate questions (e.g., strangers might ask, “What’s wrong with you?”). Care by medical profession- als who don’t understand the full effects of the disease on the patient’s life can contribute to the perception of stigma, especially when the patient’s concerns are not addressed by the providers (Williams et al., 2010). The patient may be excluded from participating in their own medical and care decisions.

Each of the neurodegenerative diseases discussed in this chapter alters the individual’s personality, behavior, and physical abilities. The progressive loss of function alters how the person is seen by, and how they interact with, people outside their home (Maffoni, Giardini, Pierobon, Ferrazzoli, & Frazzitta, 2017). Both HD and PD result in altered and involuntary movements that become more disabling over time. The kinds of movements associated with HD and PD can be odd and disturbing to people who do not know the disabled person or understand that person’s condition. This brings the person affected by a neurodegenerative disease into direct contact with the prejudices of the larger society. Some people are forth- coming with help: for instance, holding doors open so that a person using a walker can go through unobstructed. Others become noticeably impatient with the slow progress of the disabled person. Cultures vary in their response to a person’s disability, and some are more judgmental or blaming than others. For example, in the United States, the popular culture idealizes youthfulness, athleticism, physical beauty, and prowess, so a person disabled by a movement disorder might remind others of their own fears of losing health and attractive- ness, causing a negative reaction.

In the past, many families considered HD to be a shameful secret; afflicted family members were often hidden from public view. Some once regarded the disease as a punishment for sins. For others, this disease fell under the umbrella of stigma associated with mental illness. Today, there are still many misconceptions about the disease, which has led to families con- cealing its presence. For instance, many people do not understand the genetics of HD and so think it skips a generation. They wrongly think that men are more likely to get the disease than women. Better education of the public, medical personnel, family members, and those working in skilled medical facilities or nursing homes is vital for helping people with HD.

Although not well studied, there is stigma attached to PD (Burgener & Berger, 2008; Moore & Knowles, 2006). As the disease progresses, speech problems may develop, cognitive difficul- ties may expand, freezing (i.e., the person cannot move forward, as though glued in place) may occur, and depression, anxiety, and apathy may increase. People with PD have difficulty speaking at a normal volume and are hard for others to hear, which interferes with social interaction and communication. Speech therapy can be helpful for this problem. As cognitive problems increase, people with PD may have trouble finding words, which also interferes with communication.

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Both aspects of Parkinson’s—visible and invisible—can be misinterpreted, causing a stigma sometimes associated with neurological disease. Slowness of movement or speech may be perceived as intellectual disability, imbalance as intoxication, masked facial expression as an unfriendly demeanor, and tremor as nervousness. Internalizing these judgments or trying to hide the disease to avoid discrimination only make symptoms worse. (Dolhun, 2015, para. 2)

Falls may become a problem. With progression, people with PD increasingly rely on their caregivers for help with activities of daily living. Hallucinations may present as a symptom, particularly those involving imaginary small children and animals. Hallucinations can also be a side effect of the most common medication prescribed for motor problems—the combina- tion of Carbidopa and Levodopa—so if the patient begins hallucinating, it should be reported to the clinician immediately (Bhandari, 2012).

Burden on Families and Other Caregivers All neurodegenerative diseases place a significant burden on the family of the affected person, particularly on caregivers and partners. Although many studies have examined the effects of disease on the person diagnosed, effects on the quality of life of the caregiver are not studied sufficiently. This social cost is an element that the U.S. health care system has done a poor job of addressing.

Caregiving can be either formal or informal. Formal caregiving is by people who are trained and educated in it; a home health aide is one example. Most caregiving is informal, provided by friends and family who are not paid for their time or efforts and have no training or edu- cation in the field. Caregiving includes a variety of responsibilities, such as preparing food, assisting with activities of daily living (e.g., feeding, bathing, using the toilet), keeping the person entertained, and organizing doctor and therapy appointments and transportation for the patient.

The work of being a primary caregiver is incredibly demanding and often exhausting. It is common that the primary caregiver needs to juggle work and other family obligations, so they may develop their own health concerns, including inability to sleep and/or changes in appetite (Crossroads Hospice, 2016). Caregiver burden can take many forms: social, psycho- logical, financial, and physical (see Figure 9.3). One of the most important forms of social burden is isolation—that is, the caregiver finds it difficult to spend time with friends and fam- ily (Williams, Skirton, Barnette, & Paulsen, 2012). Social isolation is a major reason caregiver support groups are so important. When the caregiver is a partner or family member, there is often a sense of loss as the normal relationship with the patient changes form and diminishes. Psychological burden can take the form of depression, anxiety, anger, and guilt at not doing enough. Alternately, the person with the disease may complain that the caregiver isn’t doing enough or doing it right.

A group of caregivers identified four specific issues that affected their quality of life: levels of support, dissatisfaction with the caregiving role, practical aspects of caring, and emotional well-being. Not surprisingly, caregivers often neglected their own needs as those of the person with HD became overwhelming (Aubeeluck, Buchanan, & Stupple, 2012). Caregivers express

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concerns related to the lack of continued and coordinated care for the person with the disease (McLaughlin et al., 2011). Further, locating community resources, such as respite providers, support groups, or services that come to the home to provide services the primary caregiver cannot complete because of caregiving responsibilities (e.g., cooking, cleaning, laundry, and lawn care) is difficult and expensive. There are also challenges with affording the help and accessing state or federal benefits, which takes time and effort—not only to complete the forms but to manage the waiting period before benefits begin (Alzheimer’s Association, n.d.). It is particularly difficult as the patient progresses in the disease because the caregiver must give more time to the patient, with little time remaining to search for support.

A heavy financial burden occurs when the caregiver cuts back on or gives up gainful employ- ment. There is an additional financial burden incurred from paying for specialized equip- ment and medications. One study showed that one third of the caregivers surveyed who were under age 65 had taken early retirement or were on sick leave to provide care, and almost half of the other caregivers were also working a part-time job (Lokk, 2009). The physical bur- den—from expending the extra energy needed to care for someone who is becoming more dependent—can lead to fatigue and pain.

Figure 9.3: The framework for review based on Pearlin’s model of caregivers’ stress process

One of the more noteworthy caregiver burdens is isolation because the caregiver finds it hard to allocate time for other family members and friends.

Source: Suk Jung Han et al. (2014). Factors Associated with Family Caregiver Burden for Patients with Dementia: A Literature Review. J Korean Gerontol Nurs, Vol. 16(3): 2014

Background and context Primary stressors

Secondary stressors

Social support

Caregiver burden

Patient SES characteristics • Demographic factors • Financial factors

Caregiver SES characteristics • Demographic factors • Financial factors

Caregiver characteristics • Average caring hours • History of caring at home • Duration of caregiving • Free-time per day

SES=Social-economic status.

Patient-related illness factors • Physical factors • Psychological factors • Cognitive factors

Change in caregiver health • Physical change • Psychological change

Relationship with patient • Close relationship with patient

Social support

Family support

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Section 9.4 Social Issues That Arise From Neurodegenerative Diseases

Primary caregivers need occasional respite care. Respite caregivers provide the attention the person with the disease needs while the primary caregiver gets a period of relief from those duties. The respite period can be a few hours a week, daily, or span a period of several weeks. There are numerous options for respite care. Examples include adult day care, volun- teers (e.g., family or friends who provide care a few hours each week), in-home respite care, skilled nursing, and a short-term stay at a facility. Some respite care is given by volunteers (e.g., other family members, friends, or church members) while other respite services require payment. Services can quickly become expensive. If the person in need of care has an LTC insurance policy, then that policy may pay for some of the costs. Medicare and Medicaid may pay a portion of the costs for respite care under certain conditions. Personal health insurance policies vary. The cost of respite care is usually paid out of pocket.

Hospice care is needed when the patient nears the end of life. A person referred to hospice is usually expected to live six months or less. The care can be “in the home, at a hospice center, in a hospital, or in a skilled nursing facility” (Medline Plus, 2017, para. 2). The services are pri- marily for the person who is sick. However, the family is included in some of the services, such as spiritual and psychological care. The goal of hospice care is palliative care, which means the person is kept comfortable and their pain is managed as much as possible.

One of the biggest issues expressed by caregivers is isolation from family (Williams et al., 2012). Other concerns of caregivers include the widespread burden of providing care on their emotional and physical health as well as their difficulties experienced with accessing com- munity services, affording extra help, and obtaining state or federal benefits (Alzheimer’s Association, n.d.).

Web Field Trip

The Parkinson’s Foundation PD Library web page at (https://www.parkinson.org/pd -library) provides helpful videos, books, fact sheets, and podcasts. Review the PDF titled Caring and Coping (https://f5h3y5n7.stackpathcdn.com/sites/default/files/attachments /Caring_and_Coping.pdf ), which provides suggestions for caregivers helping loved ones diagnosed with PD.

Critical-Thinking Questions 1. How does the advice shared in the PDF reinforce the team approach to PD care? 2. The Caregiver Identity section, which begins on page 16 of the PDF, discusses the

steps a caregiver should take to fully understand and define their role. Which of the challenges seen in caring for a person with PD would apply to any person with a chronic illness? Which of the challenges are unique to caring for a person with PD?

3. The PDF discusses planning for the future. Why is this important so early in the disease process?

https://www.parkinson.org/pd-library

https://f5h3y5n7.stackpathcdn.com/sites/default/files/attachments/Caring_and_Coping.pdf

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Burden on Society Dementia places a burden on all of society. The aging of the U.S. population, with its increased risks for dementia with age, means a larger percentage of the population will be diagnosed with dementia. Among people with cognitive impairment or dementia, the presence of neu- ropsychiatric symptoms (e.g., delusions, hallucinations, agitation, and irritation) is associ- ated with increased time needed for care—that in itself is a significant societal cost (Okura & Langa, 2011). In 2011, unpaid caregivers provided an estimated 17.4 billion hours to the care of people with dementia, a contribution valued at $210 billion. In 2017, those numbers increased. An estimated 18.4 billion hours of care is valued at $232 billion annually (Statista, 2018). Among people aged 65 years and older, Medicare payments were three times higher for those with dementia than without, and Medicaid payments were 19 times higher for those with dementia. Payments for health care, LTC, and hospice services for people aged 65 years and older with dementia were expected to reach $200 billion, not counting the services of unpaid caregivers (Alzheimer’s Association, 2018a). This was higher than the combined costs of heart disease ($102 billion) and cancer care ($77 billion) for the same year (Hurd, Mar- torell, Delavande, Mullen, & Langa, 2013).

Summary and Resources

Chapter Summary Neurodegenerative disease causes the dysfunction and death of nerve cells in the brain, and it can affect motor, cognitive, and behavioral or psychological functioning. Usually, such disease has a profound impact on the family as well as the affected individual. Neurodegenerative disease prevalence has increased during the last few decades, and it will probably continue to do so in the foreseeable future.

HD is a rare inherited disease caused by an excessively repeated portion of the huntingtin gene. Children of an affected parent have a 50% chance of inheriting the defective gene and developing the disease. PD is typically not inherited; it is a disease believed to result from an inherited susceptibility combined with exposure to an environmental trigger.

Dementia is typically seen in people aged 60 years and older, although there are some early- onset dementias. Currently, medication can only slow the rate of decline or treat accompa- nying symptoms, such as depression or anxiety. If possible, families should prepare for the complications of late-stage disease early on.

Patterns of symptoms have emerged for the course of both HD and PD, but timing and sever- ity vary widely among those affected. The cognitive and behavioral symptoms of HD and PD are often more difficult for families to deal with than the motor symptoms of these diseases. Symptoms are treatable, but the treatment will not alter the course of these neurodegenera- tive diseases.

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Key Terms activities of daily living Self-care activities, such as feeding, dressing, grooming, hav- ing mobility, bathing, engaging in work, and homemaking. These activities and abilities are impaired in individuals who have low- ered functioning due to illness or disability.

alpha-synuclein A protein that aggregates or clumps in the nerve cells, forming Lewy bodies that are visible with a microscope. Lewy bodies are features of PD and other related neurodegenerative diseases.

ambulatory Able to walk; not bedridden.

ataxia Disorder of movement caused by neurological disease or injury.

autonomic nervous system Part of the peripheral nervous system responsible for regulating internal organ activity and con- trolling involuntary actions (e.g., salivation, digestion); it innervates smooth and cardiac muscle and glandular tissues.

autosomal dominant A type of inherited genetic condition in which the presence of one copy of a gene or gene mutation causes the relevant trait or condition (such as HD) to develop. If the gene is passed from one parent, the child will get the disease. Autoso- mal indicates the gene is on one of the chro- mosomes not determining sex (i.e., other than the X or Y chromosome). This contrasts with autosomal recessive conditions, which only manifest if copies of the relevant gene come from both parents.

Social interactions become more challenging due to changes in language usage as well as comprehension. Social stigma is challenging for individuals with neurodegenerative diseases. Strangers ask probing questions that are none of their business or shy away from the indi- vidual because the behaviors of that individual are not part of the social norm.

Caregivers have a heavy burden when caring for a loved one with dementia. The work is physically and emotionally exhausting, the caregiver may have to decrease their own work hours or leave their jobs if they are below retirement age, and there are few options for qual- ity support for either the affected individual or the caregiver.

Neurodegenerative diseases of the brain also place a burden on society. It bears repeating that most caregiving is unpaid and done by family members. In 2017, an estimated 18.4 bil- lion hours of unpaid caregiving performed for people with dementia was valued at $232 bil- lion. Medicare payments are three times higher for a person with dementia (Statista, 2018). Medicaid payments, which cover LTC for people who do not have the resources to pay out of pocket or for LTC insurance, are 19 times higher for those with dementia than for people who do not have dementia. These costs are estimated to reach $200 billion per year, not including the services of unpaid caregivers (Alzheimer’s Association, 2018a).

As a result, planning for the care required for late-stage disease is very important for families of patients with HD, PD, or another neurodegenerative disease. A collaborative, interdisciplin- ary approach is essential for managing these complex cases. A team of health care providers and allied health professionals give support and expertise to the patients and their families along the entire continuum of care.

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bradykinesia Slowness in starting muscle movement.

chorea Dancelike, uncontrolled, rapid, and jerky body movements seen in people with HD; derived from the Greek word for dance.

dementias Symptoms affecting a person’s cognitive abilities (thought processes) and social interactions that are severe enough to interfere with the person’s social or occupa- tional functioning. Usually caused by brain disorders, including Alzheimer’s disease, Lewy body dementia, vascular dementia, and frontotemporal dementia, as well as Par- kinson’s disease and Huntington’s disease.

do not resuscitate (DNR) order A written request to not have CPR or other resuscita- tion techniques performed if the heart stops beating or breathing stops. DNRs must be signed by a physician.

durable power of attorney A legal docu- ment giving another person permission to make decisions on an individual’s behalf in certain circumstances, as described in the legal document, and the permissions continue in the event the person giving permission becomes mentally incompetent. The person giving permission is called the principal. The powers granted to the attor- ney-in-fact (the person making decisions for the principal) are defined in the document. These can be limited to medical or financial decisions, or permit a broad range of mat- ters. The power of attorney granting finan- cial decisions is also known as a financial proxy.

dyskinesia Unwanted, jerky movements, including twitching and writhing. In PD, it can be a symptom of the disease or a side effect of anti-PD drugs (e.g., Levodopa, Carbidopa).

emotional dysregulation An unexpected and extreme response for the circumstances or situation.

financial proxy Power of attorney granting decision-making powers for financial pur- poses to another person. See durable power of attorney.

freezing A motor symptom in later phases of PD. When someone with PD freezes, they are unable to move forward, as though glued in place.

hospice A program for dealing with the end-of-life stage of a disease, offering sup- portive palliative, medical, emotional, and often spiritual care to the patient and the family, either at home or in an institutional setting.

mild cognitive impairment Problems with thinking and memory that are more severe than normal aging but less severe than dementia.

mixed dementia Cognitive decline that shows signs of the presence of more than one type of dementia: for instance, both Alzheimer’s disease and vascular demen- tia, or both Alzheimer’s and Lewy body dementia.

neurodegenerative disease A condition in which the neurons (nerve cells) or other parts of the nervous system (brain and spi- nal cord) are damaged, leading to the dys- function (loss of normal activity) and death of cells in specific areas of the brain or nerve conduction routes. Examples include PD, HD, Alzheimer’s disease, and ALS.

neurotransmitter A chemical that trans- mits nerve impulses across the neural syn- apse in the brain (e.g., dopamine, serotonin).

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Critical-Thinking and Discussion Questions

1. Discuss the implications of genetic testing in an individual who is at risk for HD, both for the individual and for their family. At what life stage is it appropriate to test? Would you counsel a parent to have a child tested?

2. Compare and contrast the role of inheritance in HD and PD. 3. Compare and contrast the diagnosis of HD and PD. 4. What is dementia? Why do we expect the prevalence of dementia to increase over

the next several decades? 5. What are some of the ways that people can help a primary caregiver for a person

with neurodegenerative disease? 6. Why is providing care for a person with dementia more difficult than another

condition? 7. If you were part of a caregiving team, how might you approach a family about the

importance of completing advance directives? When is it appropriate to ask a family member if they have advance directives prepared? At what point is it most advanta- geous to prepare advance directives?

paranoia The unwarranted belief that people are threatening some form of harm.

preclinical, premanifest, or prodromal stage Before typical symptoms appear; often the stage when subtle symptoms (pro- dromes) suggest disease is present, though not yet diagnosed.

REM sleep behavior disorder A syndrome in which people act out violent dreams dur- ing REM sleep, which is the dreaming phase of the sleep cycle (REM stands for rapid eye movement).

respite care Care provided to a person with chronic illness as a stand-in for the primary caregiver. Respite caregivers provide the attention the person with the disease needs while the primary caregiver gets a period of relief from those duties.

sporadic Type of case not linked to an iden- tifiable, inherited genetic cause.

stem cell therapy Experimental therapy for PD and other disorders; dopamine-produc- ing neurons are derived from stem cells and implanted in the brain of a person with PD to replace lost dopamine-producing neurons.

substantia nigra A region of the midbrain wherein the cells contain a dark pigment and produce the neurotransmitter dopa- mine, the secretion of which tends to be deficient in people with PD.

tremor Involuntary trembling or shaking due to physical weakness, emotional stress, or disease (e.g., this is a symptom of PD).