Jacopini, G. (2000). The experience of disease: Psychosocial aspects of movement disorders. Journal of Neuroscience Nursing, 32(5), 263-265. Retrieved from https://library.ashford.edu/ezproxy.aspx?url=http%3A//search.proquest.com/docview/2 19172994?accountid=32521 • • • This article reviews the impact on quality of life of degenerative disorders and psychosocial problems that can arise Accessibility statement (Links to an external site.)Links to an external site. Privacy statement (Links to an external site.)Links to an external site. Ray, R. A., & Street, A. F. (2006). Caregiver bodywork: family members’ experiences of caring for a person with motor neuron disease . Journal of Advanced Nursing, 56(1), 35-43. doi:10.1111/j.1365-2648.2006.03977.x. Retrieved from the EBSCOhost database in the Ashford University Library. • This article delves into the care of an individual with a degenerative disease. It also considers the needs of the caregiver. • • Accessibility statement (Links to an external site.)Links to an external site. Privacy statement (Links to an external site.)Links to an external site. Moore, K. A., & Seeney, F. (2007). Biopsychosocial predictors of depressive mood in people with Parkinson’s Disease. Behavioral Medicine, 33(1), 29-37. • • • This article examines the psychosocial correlates to depression in individuals with Parkinson’s disease. Accessibility statement (Links to an external site.)Links to an external site. Privacy statement (Links to an external site.)Links to an external site. SOC313 Family Document Throughout this class, we will meet two families, the Maldonado’s and the Olson’s. The two families are considered extended family via Sarah and Joe Miller. We will learn about their relationships, work environments, and the psychosocial effects related to health challenges faced by each family. You will use this document for the discussions and written assignments. We begin with the Maldonado family. Manny and Donna Maldonado have been married for 42 years. Manny is age 65 and Donna is 63. Sarah, Mike and Becky are the children of Manny and Donna Maldonado. Sarah is the eldest daughter, followed by her brother, Mike, and her sister, Becky.   Manny is Hispanic American and owns a 20,000-acre produce farm that has been in his family for three generations. Although Manny speaks and understands English, he prefers to speak Spanish. This creates a language barrier between Manny and other family members who do not speak Spanish. Donna is fluent in Spanish, having learned the language from Manny and his family. Donna works on the farm with her husband. She has long suffered from mood swings, which is mostly frustrating to Manny. He says it is “brujeria,” meaning her moods are caused by witchcraft and “mal d ojo” or “evil eye.” He believes someone put a spell on Donna. When this is believed to be the case, the person will visit a Curandero (healer) who will perform a healing ritual. o Sarah works as a nurse, and recently took Family Leave of Medical Absence (FMLA) due to her children’s recent issues. o Joe is the President of Illusion Technologies. Joe’s parents are John and Ella Miller. More details about Joe are shared in the Olson family section below.  Lucy, age 20, has a history of severe substance use disorder, along with having been diagnosed with bipolar disorder. In the past two years, Lucy has had four different jobs. o o o She is unable to hold a job long-term. She now works on her grandparent’s produce farm.  Josh, age 17, has been sneaking away with friends, smoking marijuana and skipping school.  Evan, age 10, was recently diagnosed with leukemia; however, he has not yet started treatments. Evan’s doctors have recommended chemotherapy, radiation, and a bone marrow transplant. Sarah and Joe intend to follow this treatment plan. Mike Maldonado is age 36. He currently works for a state University as a tenured faculty of the College of Agriculture and Life Sciences. Mike was recently diagnosed with HIV. Dan was Mike’s husband. He recently passed away at the age of 38 due to an AIDS-related illness. They were married for 10 years. Mike and Dan did not have any children. Becky is age 33. She is divorced and working on the family produce farm as well as attending a local college at night to complete her bachelor’s degree in Child Psychology. She has one child, Abe.  Abe is age 12. He is a good student, but his behavior has changed recently, showing anger and defiance towards both of his parents and several teachers at school. His mother, Becky, has been treating Abe’s behavioral changes with diet and alternative medicines. Next, we will meet the Olson family. Frederic Olson was married to Mary Olson. Mary passed away 10 years ago at the age of 77. Frederic is age 87. Ella is the only child of Frederic and Mary Olson.   Fredric has pronounced symptoms from Parkinson’s disease. He has tremors and balance problems, along with muscle stiffness and gait (manor of walking) changes. He struggles to begin any movement. However, once he is moving, he cannot stop easily. His gait has changed to smaller steps and shuffling. As he progresses through the stages of the disease, Frederic needs increasing assistance with his activities of daily living (ADLs), which entails bathing, dressing, food preparation, eating, taking medications, et cetera. He recently moved to an Assisted Living community and only leaves the facility for medical appointments. The family visits Grandpa Frederic on an alternating schedule at his new home every week. The Assisted Living community has regularly scheduled social events in which Grandpa Frederic actively participates. o Ella is married to John Miller. Ella and John are both 70 years old. John and Manny Maldonado are best friends. Ella and Manny grew up together on their neighboring farms. Ella and John recently sold their 10,000-acre farm to the Maldonado family since the two farms were adjacent to each other. o Ella has been trying to heal herself from breast cancer using a variety of natural means. She grew up on a farm and was accustomed to using home remedies. Therefore, Ella is not willing to utilize Western medicine practices. o While the alternative health care methods kept Ella in remission for a few years, recently she learned the cancer has returned. In addition, the cancer has metastasized to her lungs and bones. Ella has chosen to forego Western medical treatment options such as chemotherapy, radiation, and pharmacological breast cancer treatment medications. She has requested to live out her last days at home. Ella has agreed to be admitted to Hospice home care, with John as her primary caregiver. Ella and John are seeking quality palliative end of life care. o John, Ella’s husband, is of Native American origin. He is well educated and uses Western medicine, but relies heavily on Native American methods, such as meditation and banishing bad spirits from their home. John speaks fluent Spanish, having learned the language as a child. o John is an attorney for the Maldonado produce farm and his son’s company, Illusion Technologies. o John and Ella’s children are Sam, age 50, Lila, age 45, and Joe, age 43.  Sam is divorced and has no children. He works as a foreman on the Maldonado produce farm. He is an alcoholic and has been diagnosed with severe substance use disorder due to his alcohol addiction. His alcohol use is affecting his position as the foreman. Over the past few months, he has experienced emotional outbursts, missed work, and started arguments with the workers, third-party wholesalers, and Al Goldberg (Olson family).     Sam has been upset that his parents sold the family farm to the Maldonado family instead of passing it down to him. Lila, age 47, is married to Al Goldberg. She is a Social Worker for the state. Her job is very stressful as her caseload includes at-risk children. There is a great deal of documentation required; therefore, she works many 10 to 12 hour days. Lila is overweight and has Type II diabetes. She has not controlled her weight or diabetes well. Recently, her doctor changed her medication. She is now taking daily insulin injections to help manage her diabetes. Al, age 47, Lila’s husband, is the general manager of the Maldonado family produce farm. Al had first option for buying the Olson family farm. He opted out of purchasing the farm and agreed with the sale to the Maldonado family. He has no known health issues; however, due to an early childhood trauma, he is afraid of hospitals and funeral homes.  Alisha is Lila and Al’s only child. She is 20 years old and is currently attending college full time on a nursing scholarship. The college campus is an hour away from her parent’s home. She lives on campus in the dorms, does not work at this time, and has no known health problems. Joe, who is Sarah (from the Maldonado family) Miller’s husband, is the President of Illusion Technologies, a rapidly growing company with 50 employees. He has a patent pending on two security-based software programs that could be worth millions. He and his father are in negotiations to purchase land to build a state-of-the-art office building. Sarah, Joe’s wife, is a nurse and recently took a Family Medical Leave of Absence (FMLA) due to the health and behavioral problems with her children. Details about Joe and Sara’s children are shared in the Maldonado family section. The family members share a long history of friendship and love of farming. They have shared many life events, such as holidays, births, and deaths. Their families have been intertwined for generations through the raising of the children and grandchildren. For the most part, the families get along well. However, even though they share some of the same cultural traditions and backgrounds, they do clash from time to time. For instance, some of the Olson family members are not in full agreement with Ella’s use of home remedies and alternative treatments for her breast cancer. However, the Maldonado family understands and supports her choices. Further, Ella is encouraging Sarah Miller and Mike Maldonado to pursue Complementary and Alternative Medicine (CAM) to treat Evan’s leukemia and Mike’s HIV. The members of both families are dealing with very busy schedules and major health challenges. Degenerative Disease: Huntington’s Disease and Parkinson’s Disease 3 Juice Images/SuperStock Kenneth Lambert/Associated Press Learning Objectives 1. Compare the biological differences of two neurodegenerative diseases 2. Describe how a neurodegenerative disease affects different individual, familial, and social domains 3. Understand the different implications of an early-in-life diagnosis versus a later-in-life diagnosis 4. Demonstrate an understanding of medical management and treatment approaches for a neurodegenerative disease 5. Consider larger social issues that affect individual and family needs of those diagnosed with a neurodegenerative disease atL80953_03_c03.indd 65 12/3/13 3:22 PM Section 3.1 Introduction to Neurodegenerative Disease CHAPTER 3 3.1 Introduction to Neurodegenerative Disease “G eorge, you’re slumping. Sit up straight.” George was attending his niece’s wedding rehearsal dinner, and it was his younger brother Steve, the bride’s father, who scolded him. George’s wife Joan was both surprised and relieved. She was surprised that Steve would criticize George in public, but she had noticed George’s increasingly bad posture and was relieved that others in the family were aware of it and pointing it out to him. A chance discussion with a friend several months later gave Joan a clue to what was happening. Joan’s friend described changes in her husband, who had just been diagnosed with Parkinson’s disease (PD). They were quite similar to the changes Joan was seeing in George. After this breakthrough, it took another three months before they were able to see a neurologist who specializes in movement disorders. When they did, the diagnosis was confirmed at the first appointment. George and Joan were lucky—it often takes several visits to many physicians over many months to correctly diagnose PD, and George’s initial symptoms were not the classic ones. PD and Huntington’s disease (HD) are two of the three most common neurodegenerative diseases. (The third is Alzheimer’s disease, which is covered in “Psychiatric Conditions” in Chapter 7.) This first section examines the biological basis of physical, psychological, and social problems seen with these two degenerative diseases, as well as common misperceptions. The second section applies Bronfenbrenner’s system of human ecology to these diseases over the life span. The third section delves into treatment approaches, and the final section covers social issues such as testing, stigma, caregiver burden, and the continuum of care. Definition and Brief History In degenerative disease, the structures or functions of a particular body system, tissue, or organ deteriorate over time, leading to progressive disability. A wide range of disorders falls into this category, including osteoporosis (bone loss). In neurodegenerative disease, the neurons (nerve cells) in the brain are primarily affected, leading to dysfunction (loss of normal activity) and death of cells in specific areas of the brain. Examples include Alzheimer’s disease and other dementias, PD, prion diseases (induced misfolding of specific brain proteins), motor neuron diseases (Lou Gehrig’s disease [amyotrophic lateral sclerosis, or ALS] being the most common), HD, and several less prevalent ones. Although it is not clear what starts the process, the affected person begins to have symptoms as more and more cells in a particular part of the brain sicken and die. Symptoms of 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, the motor center, might be affected, and that person develops tremor (involuntary trembling or shaking), usually in one limb. In someone else, the part of the brain controlling speech might be affected, making it difficult for that person to express ideas in words. Evidence shows that neurodegenerative disease is becoming more common. Between 1990 and 2010, the worldwide burden of neurodegenerative disease, which includes mortality, disability, and decreased life expectancy, has increased dramatically. Compared with 1990, the estimated number of deaths in 2010 attributed to PD more than doubled, and the number of deaths due to Alzheimer’s disease and other dementias more than tripled. As people live longer, more people reach ages when PD and dementias develop. As a result, more people are being diagnosed with atL80953_03_c03.indd 66 12/3/13 3:22 PM Section 3.1 Introduction to Neurodegenerative Disease CHAPTER 3 these diseases and dying from them, so the total number of people dying from PD and dementias has increased dramatically during the last 20 years. As a larger number of people are developing these neurodegenerative diseases, the total number of person-years (number of people multiplied by the number of years) lived with disability has increased (Lancet Neurology, 2013). In addition to being classified as neurodegenerative diseases, both HD and PD are sometimes considered movement disorders. Abnormal movement (also known as ataxia) is a major aspect of both diseases. This section compares and contrasts the biology of HD and PD and how the biology of each disease leads to various physical, psychological, and social problems. Table 3.1 contrasts the features of HD and PD side by side. Table 3.1: A comparison of Huntington’s disease and Parkinson’s disease Huntington’s Disease Parkinson’s Disease Autosomal dominant, genetically inherited disease 90% of cases are sporadic, meaning a chance outcome not due to a genetic cause Causes progressive movement, cognitive (mental), and behavioral symptoms Four major areas are often affected: the motor system, cognitive or thought changes, behavioral and emotional changes, and the autonomic nervous system In the United States, about 30,000 people diagnosed with HD; more than 250,000 others are at risk for having inherited it. Worldwide prevalence of 2.7 per 100,000 U.S. prevalence between 500,000 and 1,500,000, (second most common neurodegenerative disease after Alzheimer’s disease) Overproduction of the neurotransmitter dopamine is at least partly responsible for movement disorders in HD Dysfunction and death of neurons in the substantia nigra decrease the amount of dopamine available to simulate nerves in the brain’s motor regions, and this lack of dopamine creates motor symptoms Onset typically between ages 30 and 50 Onset usually during ages 50s or 60s Predictive testing available (more than 90% of people at risk for HD do not undergo genetic testing) No objective test for PD; diagnosis based on clinical observation Motor or movement symptoms often become evident in ages 40s or 50s Early symptoms include impaired sense of smell, constipation, REM sleep disorder, slow reaction time, excessive daytime sleepiness, and impaired executive function A progressive disease with no treatment that can slow down, stop, or reverse its course A progressive disease with no treatment that can slow down, stop, or reverse its course Classic motor symptom is chorea (dancelike, uncontrolled rapid and jerky body movements) Classic motor symptoms include tremor, rigidity or stiffness, bradykinesia, impaired gait, and postural instability or balance problems Treatment goals are palliative: to reduce symptoms, maintain functioning, and maximize quality of life Treatment goals are palliative: to reduce symptoms, maintain functioning, and maximize quality of life (continued) atL80953_03_c03.indd 67 12/3/13 3:22 PM Section 3.1 Introduction to Neurodegenerative Disease CHAPTER 3 Table 3.1: A comparison of Huntington’s disease and Parkinson’s disease (continued) Huntington’s Disease Parkinson’s Disease Speech and language therapy, extra nutrients, physical therapy, and drugs that treat symptoms (e.g., agitation, depression) only 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) Death from medical complications of the underlying neurological disorder often occurs 10–20 years after clinical diagnosis Mortality risk over 20 years approximately twice that seen in a population of people without PD Huntington’s Disease The condition we now know as HD was described in the medical literature in 1872 by the physician George Huntington. Many members of his family throughout generations seemed to have the same unusual disease. The disease was first called Huntington’s chorea, because of the dancelike, uncontrolled, rapid, and jerky body movements seen in people with HD (chorea is Greek for “dance,” from which we get the word choreography). The illness was renamed in the 1980s, when nonmovement symptoms (e.g., cognitive and behavioral) were recognized as central to its course. Genetic Role HD is an inherited disease that causes progressive movement, cognitive (mental), and behavioral symptoms. Eventually the person with HD becomes completely dependent on others for activities of daily living (self-care activities such as feeding, dressing, grooming, bathing, mobility, work, and homemaking). It usually causes death 17 to 20 years after symptoms appear (Roos, 2010). Unlike many inherited diseases, HD is autosomal dominant: Dominant means the presence of one copy of the defective gene with excess CAG (a DNA trinucleotide) repeats causes a person to develop HD; autosomal indicates that the gene is carried on one of the chromosomes that does not determine sex (i.e., it is not on the X or Y chromosome). Each child of a parent with HD has a 50% chance of inheriting the defective gene (Figure 3.1). Also, a child inheriting the defective gene will almost certainly develop HD unless he or she dies from other causes before the disease develops. atL80953_03_c03.indd 68 12/3/13 3:22 PM CHAPTER 3 Section 3.1 Introduction to Neurodegenerative Disease Figure 3.1: Autosomal dominant inheritance in Huntington’s disease In this figure H indicates the dominant defective huntingtin gene, and h, 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. hh Father Mother hh Hh Hh Hh hh Each child of a parent with Huntington's disease has a 50% chance of inheriting the disease. 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. Retrieved from http://www.hdsa.org/images/content/1/6/16692/HDSAPhysDeskRef_11_web.pdf. Copyright © Huntington’s Disease Society of America. Used by permission. The number of CAG repeats in the huntingtin gene determines whether a person will develop HD (see Table 3.2). Because the defective gene for HD has been identified, anyone who has a parent with HD can be tested for the inherited defective gene. The decision to be tested is a personal one; it should not be taken lightly or without proper counseling, and it should not be done under pressure (see “Predictive Testing” in this chapter). Table 3.2: 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 Source: National Institute of Neurological Disorders and Stroke. (2013b). Huntington’s disease: Hope through research. Retrieved from http://www.ninds.nih.gov/disorders/huntington/detail_huntington.htm atL80953_03_c03.indd 69 12/3/13 3:22 PM Section 3.1 Introduction to Neurodegenerative Disease CHAPTER 3 Epidemiology HD is found in people all over the world, but there are differences in frequency in different populations. In the United States, currently HD has a prevalence (the number of people with the disease in a specific population at a given time) of 5–10 per 100,000 among people of European descent. The HD prevalence 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 Molecular Medicine and Genetics, 2011). In the United States, approximately 30,000 people have been diagnosed with HD, and more than 250,000 others are at risk for having inherited it (Huntington’s Disease Society of America [HDSA], 2010). A meta-analysis of 17 studies worldwide found an overall prevalence of 2.7 per 100,000 people and an incidence (the number of new cases of a disease in the population in a given time period) of 0.38 per 100,000 people per year. There was no indication of change in incidence or prevalence over time (Pringsheim et al., 2012). Clinical Course The course of HD varies widely. Motor or movement symptoms often become evident in a person’s 40s or 50s, but subtle cognitive 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. In an observational study of early progression in HD, investigators are studying 438 people who have the gene mutation but who, at the start of the study, did not show any symptoms. They have found that many nonmotor aspects, such as the ability to learn words and recognize smells, may be affected between 8 and 15 years before motor symptoms emerge (Paulsen et al., 2008). The so-called nonmotor aspects of HD—particularly thinking, behavioral, and emotional problems—are the ones that first affect the ability to function at work and at home. For example, subtle changes in thinking might make it difficult for a teacher to respond quickly to students’ questions. He or she might lose confidence and resign from a rewarding job. Someone who used to get great satisfaction in gardening might lose interest, and family members can’t understand why. HD is a progressive disease, and as of yet no treatments can slow down, stop, or reverse its course. The goal of treatment is to reduce symptoms, maintain functioning, and maximize quality of life for the patient and the caregiver. Allied health professionals, such as occupational and physical therapists, speech and language therapists, and nutritionists, play an important role in achieving these goals (see “Huntington’s Disease and Parkinson’s Disease Through the Life Span” in this chapter for more detail). Common Misconceptions In the past, many families considered HD a shameful secret; afflicted family members were often hidden from public view. Some regarded the disease as punishment for sins. There are still many misperceptions about the disease. For instance, many people do not understand how HD is inherited and think it skips a generation. Also, 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 still sorely needed. atL80953_03_c03.indd 70 12/3/13 3:22 PM Section 3.1 Introduction to Neurodegenerative Disease CHAPTER 3 Parkinson’s Disease James Parkinson first described “shaking palsy,” which we know as PD, in 1817. Palsy (which means paralysis) is an obsolete term for tremor. 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 are often affected in PD: the motor system, cognitive or thought changes, behavioral and emotional changes, and the autonomic nervous system (which controls involuntary body functions). Recently, the nonmotor aspects of PD (which can be much more troublesome than tremor) have been gaining more attention. The presentation and course of the disease are extremely variable. As one movement disorders neurologist put it, “If you have seen one Parkinson’s patient, you have seen one Parkinson’s patient” (Grill, 2005). In other words, the disease and its symptoms cannot be generalized from one person to another. Etiology Unlike HD, genetic causes of PD are rare and account for less than 10% of cases. The rest are considered sporadic, meaning a chance outcome not due to a genetic cause. Current thinking is that people may inherit the susceptibility to PD, which, together with an environmental trigger, produces the disease. Some data suggest that exposure to pesticides or herbicides may be a common environmental trigger (Fritsch et al., 2012). Because there is no objective test for PD, diagnosis is based on clinical observation, and as a result, misdiagnosis is common. Therefore, it is difficult to know how many people in the United States have true PD. Estimates of prevalence generally range between 500,000 and 1,500,000, which makes PD the second most common neurodegenerative disease after Alzheimer’s disease, at more than 5 million (Alzheimer’s Association, 2011; Family Caregiver Alliance, 2012a). Not only does the prevalence of PD increase with age, but it is also 1.5 times higher in men than women and about 50% lower in Americans of African and Asian descent compared with those of European descent (Fritsch et al., 2012). Since the early 1960s, researchers have discovered clues about what goes wrong in the nerve cells of people with PD. A particular part of the brain, the substantia nigra, supplies the neurotransmitter dopamine, which is needed for normal movement. (A neurotransmitter is a chemical produced by one nerve cell or neuron that acts on another neuron to signal another part of the brain.) The 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% to 80% of the cells in the substantia nigra die before the onset of PD motor symptoms (National Institute of Neurological Disorders and Stroke, 2013d). So the deterioration of brain cells begins many years before most people are diagnosed with PD. Once the loss of dopamine was identified as 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 nonmotor symptoms of PD. The autonomic nervous system is the part of the nervous system outside the brain and spinal cord (i.e., peripheral nervous system) responsible for regulating internal organ activity. Blood pressure, the digestive system, and sexual response are some of atL80953_03_c03.indd 71 12/3/13 3:22 PM Section 3.1 Introduction to Neurodegenerative Disease CHAPTER 3 the normal functions under autonomic control that may become symptomatic in PD. Nonmotor symptoms may appear as long as 10 years before motor symptoms; however, they are subtle and not easily recognized and so do not usually lead to a diagnosis of PD. Even so, nonmotor symptoms can provide valuable clues to a clinician who suspects PD and asks the right questions. Within the last decade, scientists have begun to understand the mechanisms responsible for neuronal loss in PD and several other neurodegenerative diseases, such as Alzheimer’s. Accumulation of protein aggregates (clumps) interferes with normal nerve function and eventually kills the cell. One culprit in PD has been identified as alpha-synuclein. In nerve cells, aggregates or clumps of alpha-synuclein form Lewy bodies that can be seen under a microscope. Lewy bodies are seen in PD and some related neurodegenerative diseases. It is not clear yet whether Lewy bodies are harming the cell or keeping the misfolded protein out of harm’s way (Jellinger, 2012). Clinical Course Symptoms of PD may be subtle at first and usually progress very slowly. They are often thought to be part of normal aging. However, early symptoms strongly correlated with eventual PD diagnosis include impaired sense of smell, constipation, slow reaction time, excessive daytime sleepiness, and impaired executive function (the brain’s cognitive tasks that include organizing information, solving problems, forming concepts, and making decisions). One study found that, compared with people who had none of these symptoms, those who had two or more 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). REM (which stands for rapid eye movement) sleep is the dream portion of the sleep cycle. Normally, muscles are paralyzed during REM sleep, so people cannot act out their dreams. Therefore, it may be useful to question the bed partner if the clinician suspects PD. Case Study: Early Signs and Symptoms of a Disorder George lost his sense of smell at least 8 years before his posture changed; he would ask his wife to smell the cottage cheese to see if it had gone bad. For a number of years, George’s wife Joan complained that he hit her during his violent dreams. Both these features helped George’s neurologist make an early diagnosis of PD at the stage when only his posture had changed. George had hallucinations of small animals scurrying across the floor early on, but he never mentioned them to anyone because he knew they weren’t real. About two years after diagnosis, George’s wife noticed that his driving had become worse. He was particularly bad at figuring out what to do when a car pulled out in front of him unexpectedly—a sign of deteriorating executive function. Classic motor symptoms—tremor, rigidity or stiffness, bradykinesia (slowness in starting movement), impaired gait (walking problems), and postural instability or balance problems—are most likely to lead to a PD diagnosis. Most people think of PD as characterized by tremor, but that is not always true. Motor symptoms usually appear during the 50s and 60s; appearance before age 50 (found in about 10% of cases) is called early-onset PD (onset means the first appearance of atL80953_03_c03.indd 72 12/3/13 3:22 PM Section 3.1 Introduction to Neurodegenerative Disease CHAPTER 3 symptoms), and appearance before age 20, which is very rare, is called juvenile parkinsonism (National Institute of Neurological Disorders and Stroke, 2013d). Table 3.3 presents the stages of the disease, as it progresses. See “Huntington’s Disease and Parkinson’s Disease Through the Life Span” in this chapter for more details. Table 3.3: Stages of Parkinson’s disease Stage Description Prodromal symptoms May develop years before diagnosis; may include anxiety, depression, fatigue, loss of sense of smell, mild cognitive problems, and REM sleep disorder Stage 1 Mild symptoms (e.g., tremor starts in one limb, rigidity) affect one side of the body; poor posture; and 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; requires assistance with walking, which is slower and more rigid; difficulties performing tasks of daily living so can no longer live alone; 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 PD symptoms usually begin as mild annoyances and progress over the years. The rate of progression and the type of symptoms that appear vary widely from person to person, perhaps as a result of differences in patterns of brain nerve degeneration. Within the last decade, clinicians and researchers have begun to classify PD cases into tremor-dominant and nontremor-dominant types. Another name for the nontremor-dominant type is postural instability gait disorder. People who have the postural instability gait disorder type and those who were older at disease onset are at higher risk for fast progression of the disease (Post, Merkus, de Haan, & Speelman, 2007). Cognitive problems may show up early in the disease process. Of those newly diagnosed with PD, 24% to 36% show some cognitive deficits, mostly in attention, executive function, and memory (Foltynie, Brayne, Robbins, & Barker, 2004; Muslimovic, Post, Speelman, & Schmand, 2005). Cognitive problems are more likely to be seen in those with onset in later years and nontremor-type PD. As the disease progresses, speech problems might develop, cognitive difficulties might expand, and depression, anxiety, and apathy might increase. Falls may become a problem. With progression, people with PD rely more and more on their caregivers for help with activities of daily living. Hallucinations (particularly seeing imaginary small children and animals) may present, although they are usually recognized by the person with PD as not real. Hallucinations can also be a side effect of the most common medication prescribed for motor problems—the combination of carbidopa and levodopa—and should be reported to the clinician. atL80953_03_c03.indd 73 12/3/13 3:22 PM Section 3.1 Introduction to Neurodegenerative Disease CHAPTER 3 People with PD have difficulty speaking at a normal volume, so they 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. Web Field Trip Several videos discuss some of the symptoms of PD and the different forms and stages of the disease. Explore the content presented by the National Parkinson Foundation (http://www.parkinson.org/), whose online PD library section provides several helpful videos. Watch the video titled “What are the Different Forms and Stages of Parkinson’s Disease,” and consider the following questions. Critical Thinking Questions 1. What are some of the misconceptions that many people have about PD? 2. What symptoms cause the most disability and predict a worse course for these patients? Dementia One of the more disruptive problems of later-stage PD is dementia (cognitive and emotional symptoms that interfere with normal functioning), which is a major factor in the disability progression, a diminishing quality of life, and the need for placement in a skilled nursing facility. Although well recognized, PD dementia is not well characterized—it is neither well defined, well described, nor well studied. Clinicians agree that dementia is 4–6 times more likely to appear in people with PD than in the general population, and it is more likely to manifest the longer the person has been diagnosed with PD (Aarsland & Kurz, 2010). Estimates of the percentage of people with PD who later develop dementia vary widely, but one study of a 126-subject cohort found it to be 17% within the first 5 years after diagnosis (Williams-Gray et al., 2009). Unlike people with Alzheimer’s disease, people with PD dementia are likely to continue recognizing their loved ones. Case Study: Later Symptoms of a Disorder George had been in charge of organizing his own medications, which he takes four times a day. One day, about four years after his diagnosis, Joan was away from home at noon when George called her to ask what he was supposed to do with the noon pills. “I’m supposed to throw them out, right?” That was a first sign of dementia. It was a signal for Joan that George could no longer be in charge of his own medications and that he probably shouldn’t be left alone for very long. The incident marked the start of a steep decline in George’s cognitive and emotional abilities, and the couple’s relationship changed from partnership to patient and caregiver. Joan relied on family members to help with George’s care, and she began looking for support groups to help her figure out how to handle the deteriorating situation. George ended up needing full-time care in a skilled nursing facility a little more than a year later, when he suddenly lost the ability to stand up, even with help. It meant that there had to be two people available to help him at all times, and that just wasn’t possible at home. In addition to the tremendous emotional stress on the family, George’s condition had become a financial burden as well. atL80953_03_c03.indd 74 12/3/13 3:22 PM Section 3.2 Using Bronfenbrenner’s Model CHAPTER 3 Common Misconceptions Some people think that their symptoms are caused by head trauma, for example, as a result of an accident. However, it is more likely that symptoms were subtly present before such an accident. Multiple head traumas, as seen in boxers, may contribute to the development of PD, but it is unlikely that a single accident could trigger the disease. Another misperception is that everyone who has PD ends up needing a wheelchair and unable to communicate. Many people with PD are able to live a normal life and continue their work and family activities for 20 years or more after diagnosis. This is more likely with the tremor-dominant type of disease than with postural instability gait disorder, but all people with PD continue to function better if they stay physically active. 3.2 U  sing Bronfenbrenner’s Model to Better Understand Huntington’s Disease and Parkinson’s Disease B ronfenbrenner’s bioecological 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 ethnicity, nationality, and socioeconomic status (macro perspective). Bronfenbrenner’s model posits the interaction as a two-way phenomenon: The individual both affects and is affected by each sphere of influence (for an in-depth discussion, see Chapter 1). Using George in the featured PD case study as an example, we see that because he is retired, almost all of his roles are in the micro and meso spheres. However, a federal government program, Medicare, pays for his physical and occupational therapy, so he is indirectly influenced by the macro sphere of public policy. 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. If a child is born into a family in which one parent has HD, the family might see the world with more hope for the future or with more dread. A parent’s increasing disability is bound to affect how the child views himself or herself and the surrounding world, and the family’s culture, or coping style, is apt to reinforce that view. atL80953_03_c03.indd 75 12/3/13 3:22 PM Section 3.2 Using Bronfenbrenner’s Model CHAPTER 3 Case Study: Responding to a Family Member’s Diagnosis Emma was 2 years old when her mother Jennie found out that her own mother Rina, Emma’s grandmother, had been diagnosed with HD. After the initial shock, Emma’s parents turned to their local HD center for initial advice and information. They were not happy about what they learned, particularly that Jennie had a 50% risk of carrying the defective gene and that Emma in turn had a 25% risk of developing the disease. But Emma’s parents decided to face the future together as openly as possible and to tell Emma and her older brother Robbie about HD in terms the children could understand. They realized that Jennie’s mother and father would need their help in the coming years, and they did what they could to prepare. In contrast, Sam was 29 when his father was diagnosed with HD. His family treated the diagnosis as a shameful secret. Sam later realized that his father’s mother Anna—his grandmother—had been confined to a “home” for most of his life because she had HD; she had not died before he was born, as he had been told. Sam and a young woman he was dating were thinking about getting married. His parents did not want the woman to know about his father’s illness. The dynamics in these two families and the effects of the disease on their members were quite different, even though the biology of the disease is the same. Because the biology of PD is quite different from HD, the effects of a parent’s 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 is not fully understood. Most cases of PD are sporadic, rather than genetic, so being diagnosed with the disease does not affect biological family members in quite the same way an autosomal dominant genetic disorder such as HD does. Even though PD does not determine how the patient’s children will view the future as much, it still has a significant impact on families. As an illustration, Rasheda Ali, daughter of Muhammad Ali, has described how her family reacted to growing up with her father’s PD, which was still mysterious at the time it was diagnosed. She has discussed her efforts to support stem-cell therapy research and how to combat the shame that many families feel about the condition (http://www.youtube .com/watch?v=R2MiAkm0osQ). Meso Perspectives PD and HD 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 disability benefits, and other changes brought on by a chronic disease affect the person’s relationship with work, school, family, friends, or church community. Although not well studied, it appears that some mild to moderate level of stigma attaches to PD (Burgener & Berger, 2008; Moore & Knowles, 2006). In contrast, the stigma attached to more severe forms of neurodegenerative disease, such as ALS (whose physical manifestation is similar to HD), is more severe (Molina Choi, Cella, & Rao, 2013). Unfortunately, during the 20th century the medical profession (including both geneticists and psychiatrists) played an active role in encouraging stigmatization of people with HD (Loi & Chiu, 2010). As Alice Wexler (2010) has so clearly documented, stigma against people with HD, although based on flawed assumptions, is alive and well today even among people with the disorder. atL80953_03_c03.indd 76 12/3/13 3:22 PM Section 3.2 Using Bronfenbrenner’s Model CHAPTER 3 Case Study: Social Implications of Living With a Disorder For five years before his diagnosis with PD, George worked part time, giving demonstrations and lectures for a biotech company. The job required him to travel a fair amount and drive in unfamiliar situations. In the year before his diagnosis, George had three minor car accidents. He then decided that he could no longer travel, so he took assignments only in his home area. In retrospect, his wife Joan realized that the driving problems were probably related to his early-stage PD. Within the next year, George had increasing trouble with the fine motor coordination needed for his demonstrations, so he gave up work completely. Although George’s income had not been crucial for the family, it had provided a cushion that allowed them to take vacations and pay for other fun activities together, so this change in the meso level of his life experience also had an effect on the micro level. George and Joan enjoyed playing Scrabble with their friends Susan and Bob, who lived nearby. The two couples would get together for some friendly competition along with dessert and lively discussion. Although a year after his diagnosis George seemed perfectly fine in most parts of his life (other than his noticeably stooped posture), it became clear that he no longer did as well at Scrabble. George regretted this loss and told Joan that he no longer wanted to see Susan and Bob. This meant that George and Joan had less interaction in their own community and became more socially isolated, which is not uncommon for families with a chronically ill member. 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 expectations in the meso spheres of influence are that these younger people should live up to society’s healthy ideal. Those who do not “measure up” are likely to be shunned. Also, in terms of the interaction 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, thus increasing their isolation and reliance on family members. Macro Perspectives Both HD and PD result in altered and involuntary movements that become more disabling over time. People with HD and PD move in ways that are odd and disturbing to people who do not know them or understand their condition. This different way of moving brings them into direct contact with the prejudices of the larger society. Some people are forthcoming with help, for instance, holding doors open so that a person using a walker can go through. Others become noticeably impatient with the slow progress of the disabled person. It’s not unusual for children to stare and ask a parent out loud, “What’s wrong with that woman?” Cultures vary in their response to a person’s disability, some more judgmental or blaming than others. For example, in the United States, the popular culture idealizes youthful, athletic, physical beauty and prowess, so a person disabled by a movement disorder might remind others of their own fears of losing health and attractiveness, causing a negative reaction. atL80953_03_c03.indd 77 12/3/13 3:22 PM Section 3.2 Using Bronfenbrenner’s Model CHAPTER 3 Case Study: Public Perceptions of a Disorder Rina, who was recently diagnosed with HD, used to enjoy going to the movies with her husband. However, as her chorea became more pronounced, she heard people at her favorite movie theater make derogatory remarks about her, assuming that she was drunk, which made her feel angry and hurt. She vowed never to go there again. Macrosystems affect the chronically ill in another significant way. Progress in understanding and treating neurodegenerative and other diseases depends almost entirely on basic and clinical research. An affluent society such as the United States devotes much federal spending and other funding for research into various diseases. At the federal level, National Institutes of Health (NIH) funding for PD research totaled $154 million in 2010 and in 2012; it is estimated to rise to $156 million in 2014. Similarly, NIH funding for HD reached $65 million in 2010 and in 2012, and is estimated to be $66 million in 2014, so funding in recent years has remained fairly constant. Charitable and nonprofit sectors of the economy also contribute to efforts to find a cure and treatment for various ailments. Two major charitable and nonprofit organizations provide funding for HD research: the Hereditary Disease Foundation and the HDSA. Many more fund research into PD, but the major ones are the Michael J. Fox Foundation for Parkinson’s Research and the Parkinson’s Disease Foundation. Although these entities do not publish their funding levels, they usually fund smaller pilot projects, which, if successful, allow investigators to obtain NIH funding. In the private sector, privately funded research and development are motivated not just by helping patients but by future profits, by receiving grants, and by the hopes of receiving approval from the U.S. Food and Drug Administration (FDA) for new therapies. However, during PR NEWSWIRE/Associated Press times of economic downturn, The Parkinson’s Disease Foundation is one of the major funding may dry up, venture charitable, nonprofit organizations that provides funding for PD capital may be scarce, and charresearch. itable giving may decline. A rare disease may have few people to speak out on behalf of its sufferers, making it more difficult to get funding than for a widely prevalent or politically popular cause such as breast cancer. Cuts in funding for training scientists result in fewer highly trained people who will be ready and able to carry out research in the coming decades. All these macro trends can have long-term detrimental effects on those who develop a degenerative disease. atL80953_03_c03.indd 78 12/3/13 3:22 PM Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span CHAPTER 3 3.3 H  untington’s Disease and Parkinson’s Disease Through the Life Span A s has been emphasized, because 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 is mostly sporadic, not genetic, and symptoms appear later in life, family members are much less likely to receive their own diagnosis until they are older, if at all. Huntington’s Disease A person who has one parent with HD begins life at risk for HD. Since researchers identified the defective gene in 1993, it has been possible to test for the presence of a gene carrying excess CAG repeats among people at risk. The presence of the defective gene means that the person will develop HD, unless death from other causes occurs first. Because the consequences are so profound, predictive testing should always be done with genetic counseling, both before testing and after getting the results. Such a person is at greater risk of suicide right before a diagnosis is made (as well as in Stage 2 of the disease), according to Paulsen, Hoth, Nehl, and Stierman (2005). The decision to undergo genetic testing also affects the extended family, as results may suggest that others are at risk for the disease. In the United States, more than 90% of people at risk for HD do not undergo genetic testing. They may hesitate out of fear of losing employment or insurance coverage, or simply losing peace of mind because they have glimpsed their genetic fate (Nance et al., 2011). Web Field Trip The HDSA (http://www.hdsa.org/) provides several useful online resources, such as a map to help locate genetic testing centers, information about living with HD, and details about how to help the organization accomplish its mission. Explore the Caregiver’s Corner webinar series, located in the Living with HD section, and consider the following questions. Critical Thinking Questions 1. According to the Family Dynamics webinar, how does HD affect family dynamics? 2. What tips and suggestions are presented for caregivers in the Caregiver Coping Strategies webinar? Prodromal Stage A person with the defective gene that has been identified but who has no symptoms is in the preclinical, premanifest, or prodromal stage of the disease. It is not unusual for cognitive or behavioral changes to show up during the prodromal stage, 10 to 15 years before characteristic motor symptoms of HD. When motor symptoms first appear, the person enters the clinical stage. Behavioral changes, along with cognitive changes, may be among the earliest signs of HD, appearing during the prodromal stage before motor changes are evident. Some behavioral changes commonly seen include apathy, depression, impulsive behavior and poor judgment, irritability or agitation, and aggression. These changes may be quite difficult for family members to handle, atL80953_03_c03.indd 79 12/3/13 3:22 PM CHAPTER 3 Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span as it seems that the person with HD is becoming a “different person”—one who may seem out of control. For example, a husband with HD might yell at his wife because his oatmeal isn’t hot enough, whereas he has never yelled at her before for any reason. Life milestones and progressive symptoms are shown graphically in Figure 3.2. Figure 3.2: Progression of symptoms and disability in a typical person with Huntington’s disease Symptoms of HD get progressively worse over the course of the disease, and it becomes more difficult for the individual to perform certain functions without assistance. Cognitive symptoms* (dementia) Motor symptoms* Impaired volitional movements Chorea Dystonia Psychiatric/behavioral symptoms* Weight loss Parent diagnosed with HD; Marriage First child Suicide Disabled from work; Placed in longLife born attempt affected parent dies term care facility milestones Suicide gesture Total Functional Capacity (0-13 points) Disease milestones First awareness of risk of HD Positive predictive gene test Diagnosis Death 14 12 Stage 1: 11–13 points; changes in work, role within family 10 Stage 2: 7–10 points; issues include work, finances, driving, able to live at home with minimal supervision 8 Stage 3: 3–6 points; impaired ADLs (activities of daily living), needs supervision 6 4 2 Stage 4: 1–2 points; needs assistance with most ADLs, 24-hour care appropriate 0 Stage 5: 0 points; needs assistance with all ADLs, progression to terminal stages 0 5 10 15 20 25 30 35 40 45 50 Age (years) *Some symptoms will fluctuate in severity during the disease course, and others will steadily worsen. Source: 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.29. Retrieved from http://www.hdsa.org/images/content/1/6/16692/HDSAPhysDeskRef_11_web.pdf. Copyright © Huntington’s Disease Society of America. Used by permission. Early Clinical Stage, Juvenile Onset (Stage 1) Although it is not clear what triggers disease onset and the appearance of HD motor symptoms, it likely the result of lost nerve cells for which the brain can no longer compensate. Although nothing can prevent the disease from progressing, many of the symptoms can be treated (palliated). 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 atL80953_03_c03.indd 80 12/3/13 3:22 PM Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span CHAPTER 3 50 years, some people experience onset as children, whereas others do not experience it until age 70. The more CAG repeats in the defective gene, however, the younger the onset is likely to be (Roos, 2010). Onset before age 20 is termed juvenile HD and is seen in only about 10% of cases. Initial symptoms are more likely to consist of behavioral and learning difficulties at school and stiffness or clumsiness in the arms and legs. The chorea that characterizes adult HD 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. Although the phenomenon is not understood, people with juvenile HD are more likely to have a father than a mother with the disease. Table 3.4 outlines HD’s onset and development. Table 3.4: Stages in Huntington’s disease through the life span Preclinical (prodromal) Clinical Stage Experience At-risk Anxiety about future, uncertainty about gene status, care for affected parent Identified as having gene Renewed anxiety about future, care for affected parent and own family Transition Changes in cognition and behavior Early stage Motor symptoms appear, independent in activities of daily living, behavioral symptoms more pronounced, good time to create advance directives, burden on family mostly psychological Middle stage Motor symptoms increased, begin physical dependence, begin communication difficulties, burden on family both physical and psychological Late stage Severe generalized motor symptoms, almost complete physical dependence, severe communication difficulties, unable to eat, burden on family mainly physical, contact hospice, death possible from neurological or swallowing problems Terminal stage Uncontrolled screaming, needing help from hospice, death Source: Adapted from Roos, R.A. Huntington’s disease: a clinical review. Orphanet Journal of Rare Diseases, 5(1), p. 4. Retrieved from http://www.ojrd.com/content/5/1/40/table/T1. Copyright © BioMed Central Ltd. Used by permission. At the beginning of clinical, early-stage HD (Stage 1), the most prominent symptom is likely to be chorea—the uncontrolled writhing movement characteristic of the disease. The affected person is able to carry out most activities of daily living without assistance, although it may take longer and require more concentration than for someone without the disease. At this time, family difficulties will be mostly emotional and psychological. Accepting changes in the person and the inevitability of decline is extremely stressful. However, death is rare at this stage, with the exception of suicide (Paulsen et al., 2005). The suicide rate has been reported as 7–10 times higher among people with HD than in the general U.S. population (Bird, 1999). atL80953_03_c03.indd 81 12/3/13 3:22 PM Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span CHAPTER 3 Cognitive changes in prodromal or early-stage HD may include difficulty learning new information or retrieving information previously learned. Retrieval of implicit or unconscious memories (e.g., those that recall collections of coordinated movements needed to ride a bike, play an instrument, or drive) is particularly vulnerable. Another early cognitive change is the ability to perceive information properly. People may misperceive emotional cues, misidentify smells, and not be able to estimate time. In addition, people with HD may not be aware of their own actions and feelings and their effects on others. The family is much more likely to notice and be affected by these changes than is a clinician performing an examination. Executive function is another cognitive area affected early on in the disease process. This group of higher thought functions includes mental tasks such as adding a list of numbers, which become much slower and more tiring. Other aspects of executive function affected include the ability to plan and organize activities and to pay attention when there are distractions. Here, too, the family is much more likely to notice these early changes, which should always be reported to the clinician. This information can help the clinician provide appropriate assistance to the person with HD and maintain his or her functioning as long as possible. Psychiatric or behavioral symptoms have been recognized as part of HD from the first description of the disease by George Huntington, who wrote of “the tendency to insanity, and sometimes that form of insanity which leads to suicide” (Nance et al., 2011, p. 64). Nonetheless, psychiatric and behavioral problems often go unrecognized and untreated or are confused with other diagnoses. They may appear at any stage of HD, although they may be difficult to recognize and treat in later stages because of communication problems. Middle Stage (Stages 2–3) Middle-stage HD is marked by loss of the ability to work or drive. In addition, people in this stage may no longer be able to handle their own finances or do household chores. They may require assistance or supervision with eating, dressing, and hygiene. Motor disturbances are more generalized, and chorea is more prominent and uncontrolled. Extra calories will be needed to counteract weight loss that may become noticeable in mid- to late-stage HD. As physical dependence increases, so does the burden on the caregivers and the entire family. Children, particularly teenagers, may find their severely ill HD parent embarrassing. If the family has not done so before, this is a good time for family members to reach out to support groups, either locally or online, and to make sure that valid legal instructions from the patient are in place (see “Advance Directives” in this chapter). Late Stage (Stage 4) In late-stage HD, patients require assistance with all activities of daily living. They may be unable to speak and totally confined to a wheelchair or bed. Swallowing problems and choking may require special approaches to feeding, such as pureeing food and thickening liquids. Communication problems make it significantly more difficult to understand what the person with HD needs or wants. Nonetheless, caregivers should realize that in many HD sufferers, comprehension skills are better than communication skills, so the person should be talked to, not talked about. The extravagant movements of chorea may give way to sluggish movements or rigidity in late-stage HD. It becomes more and more difficult for family members to care for and relate to the person in this stage. Indeed, placing the patient in assisted living or a skilled nursing facility may become necessary. However, it can be difficult to place a patient with HD who has severe behavioral problems, atL80953_03_c03.indd 82 12/3/13 3:22 PM Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span CHAPTER 3 such as explosive anger. Nursing homes whose residents are elderly are not equipped to handle these problems. Placing the patient in a group home for younger people, those with head injuries or psychiatric disturbances may be an option for the family. Terminal Stage (Stage 5) Late-stage HD can last 10 years or more. Death from medical complications of the underlying neurological disorder often occurs 10 to 20 years after clinical diagnosis, although some people with HD have lived 30 or 40 years. Another cause of death in late-stage HD is pneumonia or choking from aspirating food or liquid. During the terminal stage, people with HD are no longer ambulatory (able to walk), have lost all or almost all their ability to speak or interact with people around them, and are likely to become unable to eat. The decision about feeding-tube placement should have been made much earlier, when the person was able to make his or her wishes known and to make clear decisions. One sign that someone in late-stage HD has entered the terminal phase is the onset of screaming, which can be extremely upsetting to the family. Hospice staff can help the person with HD and the family deal with this traumatic time, as they are often better at understanding the use of end-of-life pain medication than many physicians. If hospice has not been brought in before, this is a good time to do so. Parkinson’s Disease As noted in this section, PD is mostly sporadic—in contrast to HD, which is mostly genetic. Symptoms also appear later in life, and family members are much less likely to receive their own diagnosis until they are older, if at all. Early Onset It is rare for someone under age 20 to be diagnosed with PD. When it occurs, it is termed juvenile parkinsonism or juvenile onset PD and 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 can be devastating for a child to be diagnosed with a disease that is thought of as an “old person’s disease,” and many children hide their diagnosis from their friends. Early-onset PD is diagnosed at or before age 50 (although some groups consider the cutoff to be age 40). One observational clinical trial, the Consortium On Risk for Early-onset Parkinson’s Disease (CORE PD), aims to identify genetic factors that contribute to the development of early-onset disease and how these factors interact with the environment to cause disease. The trial is ongoing, but one early report from April 2013 emphasizes how rare juvenile onset is: Among the 1,103 patients enrolled in the CORE PD trial from 16 centers across the United States, only 20 (1.8%) were identified as having onset before age 20. Average duration of the disease in this group was 23 years and ranged as long as 47 years, suggesting that progression in this form of the disease is very slow (“Study leads to deeper understanding,” 2013). It also may imply that PD patients diagnosed younger respond better to PD medications. People with both early- and juvenile-onset forms of the disease seem to respond well to the standard medication—the combination of carbidopa and levodopa. Even so, the effects of the medications wear off quickly, and frequent dosing is required. Raising the dose carries its own risk, as it leads to unwanted movements, including twitching and writhing, knows as dyskinesia. atL80953_03_c03.indd 83 12/3/13 3:22 PM Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span CHAPTER 3 Early-onset PD is often diagnosed when the person is at the height of career and family responsibilities. It can be devastating for the individual and the family to realize that the person faces an increasingly unknown future. Those people with tremor-dominant type PD can be reassured that, in all likelihood, they will 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 boomers (the generation born from 1946 to 1964) age, 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 significant 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. As the disease progresses, it becomes increasingly important for people with PD and their family members to identify 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 much steeper decline than when diagnosed at a younger age, in movement as well as cognitive aspects of the disease. Someone who was adept at using a computer may forget how to do basic Internet browsing, for example, and is likely to need assistance with activities of daily living such as bathing and toileting sooner, not to mention handling finances. PD is not generally thought of as a fatal disease, but it does get worse over time. In the past, people with PD were generally thought to have a normal life expectancy. However, a number of studies have shown that people with PD are at a higher risk of death than those in the general population. The Physicians’ Health Study found that among men with PD, mortality risk at more than 20 years of follow-up was about twice that seen in a control population (those without PD matched for the presence of other diseases or comorbidities, such as heart disease; Driver, Kurth, Buring, Gaziano, & Logroscino, 2008). Similarly, a study of Medicare recipients compared those with and without PD and found an increased overall risk of death in those with PD. Men with PD were at higher risk of death than women with the disease, and the presence of dementia increased the risk of death dramatically (Willis et al., 2012). Hispanics and people of Asian descent with PD were at a lower risk of death than people of European descent, while the risk among people of African descent was slightly increased compared with those of European descent. If they do not die from other diseases (e.g., diabetes or cardiovascular disease), people with PD most often die from falls and swallowing problems (leading to aspiration pneumonia and choking). Advanced care planning—particularly whether the person with PD wishes to have a feeding tube placed—should be done well before swallowing becomes a problem. Although pain is a common feature of late-stage PD, it is frequently not treated, which can be distressing both for the person with PD and for the family. Enrolling the patient in a hospice program can be particularly helpful for alleviating pain. atL80953_03_c03.indd 84 12/3/13 3:22 PM Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span CHAPTER 3 Substance Abuse In the context of HD and PD, substance abuse can have powerful social implications and affect disease progression and treatment intervention. Although not an area of in-depth research, some information on this topic has appeared in the literature within the previous decade. For instance, HD may entail a dual diagnosis, similar to that seen in people with psychiatric disorders. In addition, in HD, increased use of tobacco, drugs, and alcohol has been associated with greater disability and younger age of onset (Byars, Beglinger, Moser, Gonzalez-Alegre, & Nopoulos, 2012; Ehret, Day, Wiegand, Wojcieszek, & Chambers, 2007). And, among those people with HD who exhibit suicidal ideation, ones with the most severe ideation were more likely to abuse alcohol or drugs (Wetzel et al., 2011). For PD, the substance abuse picture is convoluted. In 1984, it was noted that street drugs contaminated with the compound MPTP (N-methyl-4-phenyl-1, 2, 3, 6-tetrahydropyridine) caused parkinsonism in drug abusers (Centers for Disease Control and Prevention, 1984). Subsequent study of this compound in nonhuman primates revealed the pathophysiology and neural mechanisms involved in PD. In this case, substance abuse led researchers to a greater understanding of the disease. Compared with the general population of disabled adults aged 30 to 54, people with youngonset PD in the same age range were more likely to receive medical care for substance abuse/ dependence and be hospitalized for psychosis or personality and impulse control disorders (Willis, Schootman, Kung, & Racette, 2013). However, the much more prevalent problem among people with PD appears to be compulsive overuse and abuse of dopamine replacement therapy used to treat the motor disabilities (Lawrence, Evans, & Lees, 2003). Investigators have concluded that “persistently elevated dopaminergic stimulation promotes the development and maintenance of addictive behaviors” (Dagher & Robbins, 2009, p. 502). These addictive behaviors include medication overuse as well as impulse control disorders such as pathological gambling and shopping, compulsive eating, and hypersexuality, which may be associated with use of a specific type of dopamine replacement therapy—dopamine agonists (Ceravolo, Rosini, Rossi, & Bonuccelli, 2010; Voon et al., 2009). Managing patients with these addictions can be difficult because of the need to balance medications for motor disturbance without overusing them. Some investigators think that these addictive aspects of PD can serve as a model for better understanding addiction in general (Ambermoon, Carter, Hall, Dissanayaka, & O’Sullivan, 2012). For a fuller discussion of substance use, see Chapter 8. Preparing for Late-Stage Disease People with neurodegenerative disease and their families need to prepare for dealing with latestage disease and end-of-life experiences. Many preparations are best done during early-stage disease, when the person affected by the disease can participate in the decision-making process. Although people and their families affected by PD may not need all these preparations, it is almost certain that people and their families affected by HD will. Advance Directives Everyone is well advised to create advance directives. However, for a person with neurodegenerative illness, such documents are essential. Advance directives—a living will, a medical power of attorney (or health care proxy), and sometimes a Do Not Resuscitate (DNR) order let others atL80953_03_c03.indd 85 12/3/13 3:22 PM Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span CHAPTER 3 know what kind of care and how much care a person wants if unable to speak for himself or herself. Both the person with the disease and a family caregiver can create these documents at the same time. Each state’s advance directives (including Puerto Rico and District of Columbia) can be downloaded from http://www.caringinfo.org/i4a/pages/index.cfm?pageid=3289. • • • A living will is a legal document that states what kind of care or how much medical intervention the person wants at the end of life. For example, does the person want every effort made to extend life or to focus on comfort? Would the person want to have a feeding tube placed when food can no longer be taken by mouth or to let nature take its course? Forms differ from state to state and can be found online. A medical power of attorney (or health care proxy) is a legal document that allows a person to designate someone to make decisions if and when the person is no longer able to do so. Because not every situation can be thought through beforehand and included in the living will, it is best to have someone designated to make decisions when they arise. The document is ideally drawn up with the help of a lawyer and must be signed by the person and a witness and notarized. These forms are also available at legal self-help websites, such as RocketLawyer or LegalZoom.com. A DNR is a physician’s written instructions not to attempt cardiopulmonary resuscitation (CPR) if the person has stopped breathing or the heart has stopped beating. Although it is usually initiated by the person or family, it must be signed by a doctor to be valid. Advance directives do not have to include a DNR, and a person can create a DNR without having other advance directives. Continuum of Care The full continuum of care for someone with a neurodegenerative disease such as HD or PD might include independent living, independent living supported by community programs, assisted living, and a skilled nursing facility or nursing home. Probably the best place to begin finding community support services for HD is through the HDSA, particularly their website’s Living with HD section (http://www.hdsa.org/living-with-huntingtons/resources/index.html). In addition to the Centers of Excellence, which provide an array of services, the HDSA offers extensive lists of social workers, support groups, and medical resources, by state. Some states (e.g., New Jersey, Connecticut) run state-funded HD family service centers that are similar to the HDSA Centers of Excellence. Several recent research-oriented explorations of community-based HD care originated in the United Kingdom (Soltysiak, Gardiner, & Shirton, 2008) and Europe (Busse, et al., 2011), where community care is more likely to be centrally supported. One study, based in the United States with HDSA associations, compared caregiver concerns in the United Kingdom with those in the United States and found higher concerns about finances and children in the United States but a greater level of sadness in the United Kingdom (Lechich et al., 2008). Caregivers from both countries expressed concerns about isolation from family. The investigators concluded that more needs to be done to address caregiver concerns (Williams, Skirton, Barnette, & Paulsen, 2012). In the United States, the National Institute of Neurological Disorders and Stroke (2013a) suggests that families can obtain part-time assistance with household chores or physical care through federal, state, or local health service agencies, though they do not suggest how to access them. atL80953_03_c03.indd 86 12/3/13 3:22 PM Section 3.3 Huntington’s Disease and Parkinson’s Disease Through the Life Span CHAPTER 3 Unfortunately, there is no one place to begin looking for community resources. Several of the larger charitable organizations for PD have a research focus, and although their websites may indicate they have support groups, these resources are thin. The National Parkinson Foundation stands out in both areas. Some university medical centers have comprehensive care available for PD, including social workers, occupational and physical therapists, and speech and swallowing therapists, but many major centers focus only on the medical needs of the patient, ignoring nonmedical needs of both patient and family. Research into effective community-based programs for PD has been spotty. Several reports of effective programs appeared in the late 1990s (Fischer, 1999; Vicker & O’Neill, 1998), but their findings have not been widely applied. A more recent project interviewing PD caregivers highlighted the widespread burden of providing care on the caregivers’ emotional and physical health and emphasized the difficulties they had accessing benefits. In addition, the caregivers interviewed complained about the lack of continued and coordinated care for the person with PD (McLaughlin et al., 2011). One specific area of PD community care that has received attention is exercise programs (Chard, 2006; Hirsch, 2009; Hirsch, Iyer, Englert, & Sanjak, 2011), but there is no indication that these programs have been adopted elsewhere. It might also be helpful to look for services based on function rather than disease, for example, resources for dealing with swallowing issues separate from either HD- or PD-specific entities. Web Field Trip The National Parkinson Foundation’s website (http://www.parkinson.org/) provides several helpful videos in the library section. Watch the video titled “Tips for the Caregiver,” which provides suggestions for those helping loved ones diagnosed with PD. Critical Thinking Questions 1. How does Dr. Giroux’s advice reinforce the team approach to PD care? 2. What challenges that she mentions in caring for a person with PD apply to any person with a chronic illness, and which ones are unique to PD? Skilled Nursing Facility/Nursing Home Care Although most people with neurodegenerative disease can remain at home for many years, cared for by their families, it may become necessary to consider placement outside the home in later stages of the disease. As much as they might wish to, family caregivers may not be able to manage the burden of physical disabilities or severe behavioral problems. It is best if several family members can together investigate placement choices before a crisis arises that requires immediate placement. Support groups can be a good source of suggestions, but visiting a facility will help determine the best choice for the affected family member. There are few options for paying for this level of care. To the surprise of most people, Medicare does not pay for skilled nursing care, except for up to 100 days following a 3-day in-patient hospitalization (http://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 care. Because Medicaid is a joint atL80953_03_c03.indd 87 12/3/13 3:22 PM Section 3.4 Treatment Approaches CHAPTER 3 federal and state program, eligibility requirements differ depending on the state (http://www .medicare.gov/your-medicare-costs/help-paying-costs/medicaid/medicaid.html). In many states, accessibility to Medicaid will be expanded under the Patient Protection and Affordable Care Act of 2010 (ACA; as of this writing, 24 states are expanding their programs). Those families who bought private long-term–care insurance before a neurodegenerative disease was diagnosed may be covered by their policy. However, the amount of their copayments and length of coverage will depend on the policy’s terms. If long-term–care insurance was not purchased before diagnosis, it is unlikely a person will qualify. Although the 2008 Genetic Information Nondiscrimination Act (GINA) protects those purchasing group or individual health iStock/Thinkstock insurance, it does not apply to Nursing facilities are an option for those who can no longer be long-term–care insurance, life cared for at home. insurance, or disability insurance. A younger person with a neurodegenerative disease is advised to apply for Social Security disability benefits (http://www .socialsecurity.gov/pgm/disability.htm), which allows a person to start collecting benefits before age 65 and to qualify for Medicare as well. Hospice Hospice is care for people with life-limiting illnesses; it emphasizes making the patient as comfortable as possible while addressing the physical, emotional, and spiritual needs of both the patient and family. Such care can be provided in either the home, a hospice facility, or an assisted living or skilled nursing facility. Many physicians are uncomfortable dealing with the end of life. In contrast, hospice workers (e.g., nurses, social workers) receive specialized training and choose to help patients and their families during this trying time. Instead of thinking about hospice as giving up hope for the person, it can be helpful to think of hospice as providing the best care for the end of life, without resorting to aggressive medical intervention. 3.4 Treatment Approaches B oth HD and PD are chronic and progressive, although the rate of progression in both diseases can differ dramatically from person to person. No treatment can halt or reverse the progression of either disease, although it may be possible to slow it down. Instead, most treatments aim to relieve symptoms rather than alter the underlying disease process. Scientists are exploring a host of approaches to effective treatments for HD, PD, and other neurodegenerative diseases. atL80953_03_c03.indd 88 12/3/13 3:22 PM Section 3.4 Treatment Approaches CHAPTER 3 Huntington’s Disease The primary target of the medical management of HD is the involuntary movements that characterize the disease and account for most of the disability. Management includes drug treatment as well as supportive measures, such as speech and language therapy, extra nutrients, and physical therapy. Drug Therapies In contrast to PD, in HD, overproduction of the neurotransmitter dopamine is at least partly responsible for these movements; therefore, patients have been given drugs to reduce dopamine production or sensitivity to dopamine. So far, only one drug (tetrabenazine) has been approved by the FDA specifically for this purpose. However, depression has been noted as a side effect of this medication, and people with HD are already at risk for depression (Kenny, Hunter, & Jankovic, 2007). Physicians may prescribe off-label (that is, without FDA approval of the drug for treating that specific disease) any approved drug they think might help, and a number of other drugs have been used, but no clinical trial so far has shown they are effective. Haloperidol, an antipsychotic drug used to treat schizophrenia, has been tried in patients with chorea. However, it carries the risk of other motor side effects and is no longer used widely. Preliminary data suggest that one of the components of fish oil may be useful for treating HD patients with fewer than 44 CAG repeats (Venuto, McGarry, Ma, & Kieburtz, 2012). Another important target in treating people with HD is cognitive impairment. Several drugs that are modestly effective in Alzheimer’s disease have been studied in small, randomized, placebocontrolled trials in people with HD. So far, none has proved useful, although several trials are ongoing. Depression is a common psychiatric symptom of HD. People with HD are sensitive to the cognitive side effects of some antidepressants, so older classes of antidepressants (which had worse side-effect profiles) should probably be avoided. Common choices include the selective serotonin reuptake inhibitors (SSRIs) such as fluoxetine, paroxetine, or sertraline, which are all available in generic form. Behavioral disturbance in HD is another area targeted with drug treatment. Unfortunately, there is scant evidence from controlled trials in people with HD to guide treatment. Physicians usually base their choice of drug on the patient’s history of response to treatment and the drug’s side-effect profile. Irritability and agitation are often treated with “atypical antipsychotic” drugs, usually at a low dose to prevent sedation or unwanted movement side effects. Possible choices include aripiprazole, olanzepine, quetiapine, risperidone, or ziprasidone (Nance et al., 2011). For more details on this class of drugs, see the discussion of schizophrenia in Chapter 7. Collaborative Care Because HD is such an overwhelming disease and nothing can be done to stop its course, the goals of treatment are to reduce the burden of symptoms, maintain functioning, and maximize quality of life of the person with HD and the family. A team of supportive health professionals can contribute to achieving these goals over the course of the disease. The contribution of each will vary, depending on the patient’s needs at each stage of the disease. Table 3.5 illustrates the collaborative approach to treating HD. atL80953_03_c03.indd 89 12/3/13 3:22 PM CHAPTER 3 Section 3.4 Treatment Approaches Table 3.5: Role of care team members in treating people with Huntington’s disease Health Professional Role in HD Care Neurologist Overall care coordination (“team leader”); neurological management Psychiatrist Overall care coordination (“team leader”): psychiatric management Psychologist Counseling about relationships, grief, chronic disease, symptom management, etc.; family support Neuropsychologist Neuropsychological assessment and counseling about cognitive changes Geneticist or genetic counselor Genetic counseling, predictive testing, prenatal or preimplantation genetic testing Social worker Disability, financial planning, management of social crises, accessing community services, placement outside the home; advance directives; counseling (if licensed) Physical therapy Gait assessment and assistive devices; exercise program Occupational therapy Assessment of driving, home safety, and activities of daily living; equipment for seating, feeding, hygiene, etc. Speech therapy Speech assessment, alternative communication devices; dysphagia assessment and counseling Dietician Nutritional assessment and counseling Nurse Case management, telephone counseling, support Research team Counseling about research opportunities; enrollment in research Chaplain Family support, spiritual advice Lay organization volunteer Liaison with HD support groups, advocacy, other organization activities Primary care physician Primary care, preventive health, management of medical complications in late stages Dentist Aggressive, proactive dental care Hospice care team Comfort and dignity-directed care in terminal stages Source: 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. 29. Retrieved from http://www.hdsa.org/images/content/1/6/16692/HDSAPhysDeskRef_11 _web.pdf. Copyright © Huntington’s Disease Society of America. Used by permission. A family member of a person diagnosed with HD might want to know about their own genetic status. However, as a clinical therapist from a university HD center advised, “Testing is almost never an emergency, and before investigating genetic testing, it would be a good idea to get your benefits in order” (Kogan, 2013). Although GINA protects the ability to obtain health care insurance, neither life insurance nor long-term–care insurance is covered by GINA’s provisions. When benefits are in place, the best place to begin is by talking to an intake person at a local comprehensive atL80953_03_c03.indd 90 12/3/13 3:22 PM Section 3.4 Treatment Approaches CHAPTER 3 HD center. If there is no local center, then the HDSA should be the starting place. It is not advisable to start with a primary care practitioner or a neurologist unless vetted by the HDSA, because sufficient counseling may not be available through them. Although the procedures differ among centers, this is how they work at one HD center: • • • • Triage takes place over the phone with the clinical therapist, and once it is established that the person is ready to be tested, an appointment is made. First appointment—the person meets with the clinical therapist for a psychosocial evaluation and a physician who does an exam to complete the Unified Huntington’s Disease Rating Scale (UHDRS) (http://www.neuropsicol.org/Protocol/Uhdrs.pdf). Second appointment—a week or more later, the person meets with the genetic counselor and has blood drawn for genetic testing and may also meet with the nurse practitioner. Third appointment—one month later, the patient and a support person meet with the genetic counselor to review the results of the blood test; if positive, they will arrange for a baseline cognitive evaluation with a neuropsychologist and draw up an individual treatment plan. When a family member is first diagnosed with HD, a social worker and a genetic counselor can be invaluable for helping the family to cope with the news of what lies ahead. The individual diagnosed with HD might undergo individual counseling with a mental health clinician (e.g., a licensed professional counselor, licensed clinical social worker, or marriage and family therapist); the caregiver might meet with an ongoing support group led by a mental health clinician. People with HD often have trouble processing what goes on in a support group, so individual counseling is more appropriate for them. Physicians, psychiatrists, and neuropsychologists will schedule checkups for UHDRSs, cognitive status, and other measures of functioning. The frequency will depend on the center and might be annual. Physical therapy is a crucial component of retaining mobility throughout the time that movement is possible. Occupational therapy can provide a means of coping with changing abilities to perform activities of daily living as well as assessing the ability to drive and be safe at home. A speech therapist can recommend assistive devices when communication begins to become a problem and, later, when swallowing becomes difficult. A dietician can counsel the patient on how to prevent and treat unwanted weight loss. Depending on the makeup of the care team, individual and family counseling might be provided by a social worker, a nurse, or a chaplain. Lay volunteers from patient advocacy organizations, such as the HDSA, can give referrals to support groups and other services. At the terminal stage of HD, the hospice care team can provide comfort and ease the pain for both the person with HD and the family. Throughout all stages of the disease, the combination of medical and supportive care management (ideally provided through an HD comprehensive care center) can go a long way toward easing the burden for people with HD and their families. Parkinson’s Disease PD involves both the person with the disease and usually the family, although not as dramatically as in HD. Many more centers provide medical treatment for PD, though they are less likely to offer a comprehensive team approach than is seen in treatment for HD. atL80953_03_c03.indd 91 12/3/13 3:22 PM Section 3.4 Treatment Approaches CHAPTER 3 Drug Therapies Because motor symptoms usually prompt the diagnosis of PD, they are usually the focus of initial medical treatment, even though the nonmotor symptoms may have been present for a decade or more before the motor symptoms arise. The standard drug treatment for PD motor symptoms is the combination of levodopa and carbidopa, which replaces the brain’s decreased dopamine production. Levodopa (also called L-dopa) is a molecule that is able to cross the “blood-brain barrier” and enter the brain, where it is used by nerve cells to make dopamine. Carbidopa slows the breakdown of dopamine, so the drug has a longer effect. Motor–drug effectiveness is measured by the combination of “on time,” during which the medication is effective, “off time,” when the drug wears off and symptoms return, and the presence of dyskinesia (involuntary movements; Fritsch et al., 2012). The levodopa/carbidopa combination is very effective for reducing bradykinesia (slowed-onset movement) and rigidity in early PD. However, it tends to lose effectiveness over time, as motor fluctuations (cycling between on and off times) and dyskinesia become more of a problem. One means of delaying some of the side effects of levodopa/carbidopa is to use lower doses more frequently. Although this approach can be effective, it leads to complex dosing schedules that may become difficult for the person with PD to follow as cognitive functioning declines. Other drugs may be added to reduce off time and prevent dyskinesia (Fox et al., 2011). No two people with PD will react exactly the same way to medication, so the patient and the clinician need to try different approaches until they find a satisfactory regimen. Although the nonmotor symptoms of PD can be more disturbing to the person with PD and to the family, little scientific evidence from randomized controlled trials shows which drugs work well for treating these symptoms. As with HD, clinicians use their own experience and judgment in prescribing treatment for nonmotor symptoms. The one exception is the use of rivastigmine for treating dementia because data show it is effective, albeit modestly. Data do support the use of the antidepressant pramipexole for depression commonly seen in PD and the use of clozapine for psychosis (delusions, hallucinations, or paranoia). However, most physicians would rather not prescribe clozapine, which requires weekly blood draws for complete blood counts, and give quetiapine instead. No other antipsychotic drugs are safe to use in people with PD. Deep-Brain Stimulation When it becomes clear that dyskinesia and motor fluctuations are becoming a major problem but the person still responds to levodopa/carbidopa, surgical treatment with deep-brain stimulation (DBS) becomes an option. This technique preserves brain tissue, unlike thalamotomy or other palliodotomy, which remove parts of the brain that cause uncontrolled movements. In DBS, electrodes are surgically implanted deep within the brain and a small electrical device is implanted in the chest beneath the collarbone. People in mid to late stages of PD may be candidates for DBS, but they must have normal cognition, have no other medical conditions, and understand the risks of brain surgery. DBS has been shown to reduce the amount of levodopa/carbidopa needed to maintain good motor function, particularly for tremor. However, it has little effect on freezing, posture, or balance (National Institute of Neurological Disorders and Stroke, 2013b); DBS of the subthalamic nucleus has been shown to improve a range of PD symptoms. Investigational Therapies Stem-cell therapy and gene therapy are two investigational approaches to stimulating the production of dopamine in PD. In stem-cell therapy, dopamine-producing neurons are derived from adult bone-marrow stem cells and implanted in the brain of a person with PD to replace lost dopamine-producing neurons in the brain. If the stem cells are taken from the patient, they atL80953_03_c03.indd 92 12/3/13 3:22 PM CHAPTER 3 Section 3.4 Treatment Approaches are called autologous stem cells. Several preliminary experiments have shown promise, but this technique is far from gaining approval for use in patients other than in clinical trials (Politis & Lindvall, 2012). Gene therapy uses viruses made harmless by removing the genes they need to reproduce. These vehicles can then deliver the genes to the affected areas of the brain, where they will produce enzymes to synthesize dopamine. Other treatment approaches deliver brain growth factors to support the health of dopamine-producing neurons and protect them from further damage. Trials are under way, but gene therapy is even farther from being available in the clinic than stem-cell therapy (Parkinson’s UK, 2012). Many researchers are investigating neuroprotective approa...
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