Categories
Neurodegenerative Disorders

An Impossible Choice -A Look at Huntington Disease

You notice your mother has been having harder time controlling her movements than usual. She has been more irritable and forgetful than usual, and has had jerky, uncontrolled movements on her arms and face. When you speak to her doctor, he diagnoses her with a specific disorder, one that is known for being highly heritable. He asks whether you would like to be tested to see if you too have the gene for this disorder. Not only do you have to grapple with the fact that your mother has this disease, but now you also need to consider the fact that you might also be carrying the mutation for this disease. Seems like a stressful situation? For family member’s with Huntington Disease, this is the situation that they find themselves in.

Huntington disease is a neurological disorder that causes motor difficulty, specifically involuntary jerking and twitching, as well as emotional and cognitive difficulties.  The disease is progressive, meaning that once the initial symptoms set in, they tend to become considerably worse over time. Typically, individuals with adult-onset Huntington disease live for 15 to 20 years after they begin to show symptoms.

What makes Huntington disease very unique is the fact that it is known to be highly heritable, with a well documented genetic mutation that has been known about since 1993. This mutation is an autosomal dominant trait, meaning that if a parent has this disease and passes the gene down to you, you would almost certainly develop the disease at some point during your lifetime.

Though a lot is known about the genetic causes of Huntington’s disease, unfortunately, the reasoning for why this mutation causes can be so devastating not as clear. This means that there is not a current cure for the disease, nor is there a way to slow down the progression of the disease. There are drugs that are available to help with symptom management, specifically mood stabilizers and muscle relaxers, but these can not minimize all of an individual’s suffering. There is a lot of research that is being done about Huntington’s disease. Hopefully, this research that will lead to a solution to cure or slow down the progression of the disease,  but as of right now, while there has been promising studies in other organisms, there are no drugs that are currently available for human subjects.

What would you do if you were in this position? Would you want to know if it is likely for you to develop the disorder and try to get treatment to manage your symptoms early? Doing this would allow you to make plans about your future, and plan for what you like to happen when you start developing this disease. Or, would you rather live in a state of ignorant bliss, and handle the disease whenever you begin to notice the symptoms? A positive test result can mean a lot of things emotionally, and also can impact your insurance and employment. Whether you would decide to take the test or not, the decision is not an easy one, and one that an individual should not take lightly. Since this is such a recent field, there is still a lot of confusion as to what the results of a genetic test like this could mean. Any type of genetic testing involves many ethical considerations, especially in regards to who can be allowed to view the results of the test.

 

Works Cited:

Huntington disease – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/huntington-disease#statistics

Huntington’s Disease. (n.d.). Retrieved from https://www.alz.org/alzheimers-dementia/what-is-dementia/types-of-dementia/huntington-s-disease

Huntington’s disease. (2018, May 16). Retrieved from https://www.mayoclinic.org/diseases-conditions/huntingtons-disease/diagnosis-treatment/drc-20356122

Learning About Huntington’s Disease. (n.d.). Retrieved from https://www.genome.gov/10001215/learning-about-huntingtons-disease/

 

Vonsattel, J. P., MD, & DiFiglia, M., PhD. (1998). Huntington Disease. Journal of Neuropathology and Experimental Neurology, 57(5), 369-384.

Categories
Neurodegenerative Disorders

Stem Cell Therapy: A Question of Ethics

Imagine you have been diagnosed with a disease, and you are told that there is no cure. There are treatments available to help with your symptoms, but they do not guarantee your quality of life, nor how much time you have left. Your doctor tells you that there are experimental treatments available, research studies you can participate in. The study mentioned in particular involves the use of embryonic stem cells.

Medicine is no stranger to the use of stem cells. A stem cell is defined as “a cell that has the ability to continuously divide and differentiate (develop) into various other kinds of cells [or] tissues” (Barker et al., 2013). In 1956, Dr. E. Donnall Thomas performed the first bone marrow transplant in Cooperstown New York. Bone marrow is a spongy tissue found in the center of bones, and it contains cells called haematopoietic (or blood-making) stem cells. Bone marrow is usually extracted from the lower spine using a needle. To obtain embryonic stem cells, however, scientists must harvest an embryo.

Scientists learned how to harvest stem cells from embryos in 1998, and while it was a major breakthrough, controversy also sparked as a result of it. Embryonic cells have a huge potential to help cure diseases and form treatments, but they could not be obtained without “destroying human embryos”. In 2006, scientists learned how to manipulate human cells to behave like stem cells. This breakthrough could have ended the controversy, but embryonic stem cells were still needed. The manipulated cells, called pluripotent cells, are compared to embryonic stem cells to determine how well they will work. Embryonic stem cells are also used as a control group in experiments. However, the other ethical issue present is that the manipulated cells  have the potential to turn into clones of the donor. Most countries have passed laws to prevent this from happening, but it remains an ethical issue.

We now know what makes embryonic stem cell therapy so controversial, but does the end justify the mean? Is it ethical to use embryonic stem cell therapy to help treat diseases that have no known cure? What if embryonic stem cells can be used to cure diseases that were otherwise incurable? In the case of neurodegenerative disorders, there are no known cures. Doctors treat symptoms to help improve the quality of life of those who have neurodegenerative disorders. But, could stem cell therapy help reverse the damage done by the disorders?

Stem cells have been used for the purpose of replacing and restoring cells lost through neurodegeneration in patients with Parkinson’s Disease, Multiple Sclerosis, Huntington’s Disease, Motor Neuron Disease, and others (Pen et al., 2016). Trials were designed to replace dopamine cells in patients suffering from Parkinson’s Disease; many younger participants benefited, but were not protected from disease progression (Pen et al., 2016). The common thread among various neurodegenerative disorders is the atypical protein formation and the induction of cell death  (Barker et al., 2013). Stem cells, whether they are pluripotent cells that have been synthesized in a lab or embryonic stem cells, can be grown and differentiated into a relevant cell type to replace cells lost in a disease process (Barker et al., 2013). Clinical trials are not abundant because pluripotent cells, which is seemingly the more ethical of the two, are still being refined (Barker et al., 2013). In addition to this, trials have not been conducted on humans because choosing who gets to participate poses another ethical dilemma (Barker et al., 2013). Factors such as age, disease type, duration of the disease, prognosis must all be considered when determining the subject pool for a study. Neurodegenerative disorders are not identical from person to person, thereby making the recruitment process of finding individuals whose diseases and situations resemble each others quite difficult.

Stem cell transplantation has been used in closely related fields, such as spinal cord injuries. For example, patients with complete spinal cord injuries were able to improve their neurological functions with the use of stem cells without severe adverse effects, and the damage done to the white matter tracts in the spinal cords were repaired (Barker et al., 2013). This lead to improvement in transmission of signals to and activity of the muscles in their legs. This change shows that the use of stem cells holds a new potential for treatments in the spectrum of neurological diseases (Barker et al., 2013). Scientists believe the same techniques can also be applied to  diseases such as Alzheimer’s Disease and Parkinson’s Disease, hopefully, reversing the damage done by the neurodegeneration. Stem cell use in the treatment of any disease will cause ethical questions to arise, it is no different when talking about its use in the treatment of neurodegenerative disorders. Stem cells have the potential to improve quality of life, decrease the progression of disease, and maybe even cure these disorders. However, we must ask ourselves, is it benefitting the greater good?

References

Australian Cancer Research Foundation. (2017, January 17). The first bone marrow transplantation in 1956 changed cancer treatment. Retrieved November 28, 2018, from https://home.cancerresearch/1956-the-first-successful-bone-marrow-transplantation/

Barker, R. A., & Beaufort, I. D. (2013). Scientific and ethical issues related to stem cell research and interventions in neurodegenerative disorders of the brain. Progress in Neurobiology,110. doi:10.1016/j.pneurobio.2013.04.003

Genetic Science Learning Center. (2014, July 10). The Stem Cell Debate: Is it Over? Retrieved November 28, 2018, from https://learn.genetics.utah.edu/content/stemcells/scissues/

Pen, A. E., & Jensen, U. B. (2016). Current status of treating neurodegenerative disease with induced pluripotent stem cells. Acta Neurologica Scandinavica,135(1). doi:10.1111/ane.12545

Categories
Neurodegenerative Disorders

Multiple Sclerosis: A Neurodegenerative Disease

Multiple Sclerosis, more commonly known as MS, is a disease in which the body’s immune system attacks the central nervous system. The central nervous system is composed of the brain, spinal cord, and optic nerves. In individuals with MS, the immune system causes inflammation in the central nervous system that damages the myelin sheath, the protective covering of nerve fibers (also known as axons), as well as the nerve fibers themselves. The axonal destruction unfortunately causes irreversible neurological damage, which is why Multiple Sclerosis is primarily considered a neurodegenerative disorder (Ciffeli et al., 2002). Myelin is a fatty substance that surrounds, insulates, and protects the axons. Therefore, when the myelin sheath is damaged or destroyed, the central nervous system’s ability to send and receive messages is altered or stopped completely. The resulting damaged areas then develop scar tissue, which is where the disease gets its name — multiple areas of scarring or multiple sclerosis (condition of hardening or scarring).

Multiple Sclerosis is still widely regarded as a disease of the white matter in the brain, but recent evidence shows that there may be significant involvement of gray matter too (Boraschi et al., 2002). Grey matter contains nerve cell bodies, dendrites, and axon terminals of neurons (Villines, 2018). The gray matter is where all the synapses are. A synapse is the intersection between two dendrites. White matter, on the other hand, is where axons connect different areas of gray matter. Impulses are carried from the cell body through the dendrites, into the synapse. There, the axon from the receiving cell will pick up the impulse. In this process, the job of white matter is to conduct, process, and send nerve signals up and down the spinal cord. Therefore, damage to the white matter of your brain or spinal cord can affect your ability to move, use your sensory faculties, or react appropriately to external stimuli. Some people with damaged white matter may also experience deficits in reflexive reactions (Villines, 2018).

The damage to various areas of the central nervous system produces a variety of neurological symptoms that vary based on severity. Common symptoms of MS may include fatigue, numbness or tingling, difficulty walking, spasticity, and cognitive dysfunction, while less common symptoms may include speech problems, swallowing and breathing problems, tremors, seizures, and hearing loss (National Multiple Sclerosis Foundation).

While the cause of multiple sclerosis is still unknown, scientists believe it is triggered by a combination of factors. Therefore, research is ongoing in the areas of immunology (the study of the immune system), epidemiology (the study of disease patterns in large groups of people), and genetics (understanding genes that may not be functioning correctly in people who develop MS). Infectious agents are also being studied to see if there is a correlation between infections and multiple sclerosis. While there is no single risk factor that has been identified, a variety of factors are believed to contribute to the overall risk of developing multiple sclerosis.

Among these “risk factors” are geographical location, insufficient levels of vitamin D , smoking history, and obesity. For example, multiple sclerosis is known to occur more frequently in individuals who live in areas further from the equator. Data also suggests that exposure to some environmental agents before puberty may predispose an individual to develop multiple sclerosis. In addition, growing evidence has shown that low vitamin D levels are a risk factor for developing multiple sclerosis. Sunlight is a natural source of vitamin D, and areas closer to the equator are exposed to greater amounts of sunlight year-round than people living closer to the north and south poles. Another risk factor is smoking. As with many other diseases, smoking increases the risk for developing multiple sclerosis, and also increases the progression of the disease. Fortunately, the evidence also suggests that quitting smoking is associated with reduced risk and a slower progression of the disease. Lastly, childhood and adolescent obesity, particularly in females, may increase one’s risk of developing multiple sclerosis later on in life.

Although multiple sclerosis is not an inherited disease, there is a genetic risk factor associated with it. The probability of developing multiple sclerosis increases if a first degree relative (mother, father, siblings, children) has the disease. In identical twins, if one twin has the disease, the other twins risk for developing MS is about one in four. Approximately 200 genes have also been identified as contributing a small amount to the overall risk of developing multiple sclerosis, but additional research needs to be done to better understand these factors that contribute to the development of this disease.

Multiple sclerosis is thought to affect more than 2.3 million people worldwide. While the disease is not contagious or directly inherited, epidemiologists have identified factors in the distribution of MS around the world that may eventually help determine what causes the disease (National Multiple Sclerosis Foundation). These factors include gender, genetics, age, geography and ethnic background. Most people are diagnosed between the ages of 20 and 50, and although MS can occur in young children it is more prevalent in older adults. MS is at least two to three times more common in women than in men, thereby suggesting that hormones may also play a significant role in determining an individual’s susceptibility to acquiring multiple sclerosis. Overall, MS is a debilitating neurodegenerative disease that renders an individual unable to go about their day to day activities without experiencing pain and other symptoms. While no cure currently exists, there are various treatment options that can be utilized to treat the symptoms of this disease and improve one’s quality of life.

References

Boraschi, D., & Penton-Rol, G. (2016). Immune rebalancing: The future of immunosuppression. Amsterdam: Elsevier/Academic Press.

Cifelli, A., Arridge, M., Jezzard, P., Esiri, M. M., Palace, J., & Matthews, P. M. (2002). Thalamic neurodegeneration in multiple sclerosis. Annals of Neurology,52(5), 650-653. doi:10.1002/ana.10326

National Multiple Sclerosis Society. (n.d.). What Is MS? Retrieved from https://www.nationalmssociety.org/What-is-MS  

Villines, Z. (2018, August 02). Gray Matter vs. White Matter in the Brain. Retrieved from https://www.spinalcord.com/blog/gray-matter-vs-white-matter-in-the-brain

 

Categories
Neurocognitive Disorders Neurodegenerative Disorders

Going Back to School: Adult Day Care

When someone says “daycare”, what is the image that pops into your head? Primary colors abound the alphabet on the walls, and the smell of crayons heavy in the air. And obviously, children running around playing, possibly with paint from arts and crafts on their shirt or remnants of snack time on their face, with a teacher or two trying to wrangle them all in. This is what a daycare center entails… or is it? While the term daycare might be commonly associated with young children who are being cared for while their parents are in work, there is another population that has been using daycare: elderly individuals with dementia.

Adult day care centers for individuals with dementia have become increasingly popular to help engage the growing number of individuals suffering from dementia and help alleviate the stress off of their caregivers. Currently, there are 50 million people with dementia around the world, and approximately 10 million new cases are being diagnosed every single year. With this massive population that is just growing, there need to be effective ways to help minimize the suffering that the individuals and their families face.  This is where adult day care center can come into play.

One particular center in Chula Vista, California that opened up earlier this year was designed to look like a town square from the 1950’s, a time when most of these patients were young. The town has 14 activity centers that appear to be storefronts, with anything you can think of it a town: vintage clothing stores, a gas station with a Thunderbird, dinner, movie theater and more. This specific center is trying to engage the participants by using what they call reminiscence therapy, trying to promote socialization by creating an environment where their memories are more easily recalled.

Though not every center uses such elaborate techniques, simpler applications of these principles are used in other centers. They try to engage these people by allowing them to socialize and participate in a variety of activities. Some of these activities could include outings, pet therapy, counseling and therapy, health services, behavior management, along with recreational activities like music and art.

Using the Montessori method, which is commonly used to teach social, cognitive and functional skills to children, has been found to be beneficial in this setting to engage individuals socially and with their environment. This can be extremely helpful in minimizing behavioral issues that are common among dementia patients, especially apathy and agitation.  Along with potentially helping behavioral and cognitive symptoms, these patients may also foster physical improvements. This population often is associated with degrees of frailty and fall risks. By being a part of a program like this, there may be improvements in gait, especially after longer participation.

With so many people suffering from dementia, be it a specific form such as Alzheimer’s or any other form, there will also inherently be an increase in the number of people that care for them. Currently, according to the Alzheimer’s Association,  16.1 million Americans provide unpaid care for people with Alzheimer’s or other dementias. Caring for someone with dementia can take an incredible toll on caregivers, one-third of who are 65 years old and older. The sandwich generation, as they are called, are responsible for not only caring for an aging family member but also a child under 18. These individuals make up approximately one-fourth of all caregivers. Could using an adult daycare service be beneficial to the caregivers, on top of being helpful for those with dementia?

The short answer: yes! Studies have shown that after only a three month period, caregivers who used an adult daycare service had significantly fewer feelings of overload and strain, as well as lower levels of depression and anger. The reasoning for this may be that having the adult daycare gives the caregiver more time to do other necessary tasks, allowing them to feel less stressed. It was also found that for caregivers with a family member that had their memory symptoms improve when using the adult daycare, there was a correlation with a reduction of overload, or feeling mental and emotionally drained.

By away giving a break to the caregiver and an avenue for socialization for someone with dementia, adult day care seems to be an amazing opportunity. Hopefully, this will become more accessible to a greater number of people, with increasing the number of locations worldwide and decreasing the cost or having this service be covered by more insurances. To find out more information about how to find an adult day care center near you, check out the Alzheimer’s Association’s resources!  

References:

Adult Day Centers. (n.d.). Retrieved from https://www.alz.org/help-support/caregiving/care-options/adult-day-centers

Dementia. (n.d.). Retrieved from http://www.who.int/news-room/fact-sheets/detail/dementia

Facts and Figures. (n.d.). Retrieved from https://www.alz.org/alzheimers-dementia/facts-figures

Hageman, P. A., & Thomas, V. S. (2002). Gait performance in dementia: The effects of a 6-week resistance training program in an adult day-care setting. International Journal of Geriatric Psychiatry, 17(4), 329-334. doi:10.1002/gps.597

Judge, K. S., Camp, C. J., & Orsulic-Jeras, S. (2000). Use of Montessori-based activities for clients with dementia in adult day care: Effects on engagement. American Journal of Alzheimers Disease, 15(1), 42-46. doi:10.1177/153331750001500105

Powell, R., & Pawlowski, A. (2018, April 10). Dementia day care looks like 1950s town to stimulate patients’ memories. Retrieved from https://www.today.com/health/dementia-day-care-looks-1950s-stimulate-patients-brains-t126727

Steven H. Zarit, Mary Ann Parris Stephens, Aloen Townsend, Rickey Greene; Stress Reduction for Family Caregivers: Effects of Adult Day Care Use, The Journals of Gerontology: Series B, Volume 53B, Issue 5, 1 September 1998, Pages S267–S277,

Zarit, S. H., Stephens, M. A., Townsend, A., & Greene, R. (1998). Stress Reduction for Family Caregivers: Effects of Adult Day Care Use. The Journals of Gerontology Series B: Psychological Sciences and Social Sciences, 53B(5). doi:10.1093/geronb/53b.5.s26

Categories
Neurodegenerative Disorders

You Are What You Eat: The Role of Nutrition in Neurodegenerative Disorders

In my elementary school cafeteria, there was a poster right at the front of the lunch line. It was a “Got Milk” poster. When I went to middle school and high school, I found the same poster in the same spot. I grew up learning how important it was to eat my vegetables, and spent days watching Rachel Ray teach parents how to “trick” their kids into eating brussels sprouts and broccoli.

Our mindsets have changed since the fast food craze of the 1950’s. More notably in the recent years, our culture is starting to shift away from McDonald’s and Burger King towards healthy grocery stores like Whole Foods and Trader Joe’s. If you walk into a grocery store in 2018, words like “vegan”, “non-GMO”, “organic”, “gluten-free”,”soy-free” and “dairy-free”are not uncommon, which wasn’t the case a mere 15 years ago. Today, the government has even launched a campaign promoting water over juices and soft drink. Why is all of this important? We are told eating healthy and exercising is good for us. But, is it so good that it can prevent and/or delay neurodegenerative disorders?

The brain is an organ, and as any other organ it needs nutrients to build and maintain its structure. It needs to function harmoniously and protect itself from premature aging and diseases. Neurological development can be compromised in the presence of dietary deficiencies. For example, iron misregulation and accumulation in the brain is a possible cause for neurodegenerative disorders (Ke, et al, 2003). The brain needs nearly all nutrients; but, too many of the wrong vitamins and minerals can be harmful as well. Diet and exercise together can reduce age-related cognitive decline and the risk of neurodegeneration (Ke, et al, 2003).

A study conducted in Spain formulated a link between diet, inflammation, and neurodegeneration. Inflammation is a the body’s natural response an injury, to defend against foreign invaders, and to repair damaged tissue. Essentially, the body uses inflammation to heal itself, and it is beneficial to us. Inflammation is supposed to last a few days: the process is not instant. But when it lasts longer than the required time to heal, it causes a state of chronic low-grade inflammation, which may trigger the development of several diseases and disorders  by activating the body’s immune response (Wärnberg et al, 2009).

For many years, the brain was regarded as an organ that was not susceptible to inflammation and immune responses. Now we know this is not true (Wärnberg et al, 2009).

Neuroimmunomodulation, the study of inflammation and the nervous system, is a rapidly expanding field of research (Wärnberg et al, 2009). Multiple Sclerosis, or M.S., is a neurodegenerative disease characterized by inflammation that damages the myelin sheath, the protective coating on nerve fibers (National Multiple Sclerosis Society, n.d.). Recently it has been suggested that inflammation also plays a role in Alzheimer’s disease, HIV-related dementia, and memory loss after traumatic brain injury because it involves a substantial loss of nerve cells (Wärnberg et al, 2009).

Wärnberg and his fellow researchers suggest that following a healthy diet has a “dual effect on both reducing inflammation and meliorating neurodegenerative disorders,” (Wärnberg et al, 2009). Foods like grapes, apples, berries, pomegranates, and green tea are rich in antioxidant compounds that have anti-inflammatory properties and other related health benefits. Green tea aids in boosting metabolism, and apples contain fiber which is good for digestive health. Although the number of studies describing a link between foods and inflammation is low, the available evidence indicates that consuming vegetables and fruits, an antioxidant rich diet or vitamins, fiber, and magnesium aid in reducing inflammation. Wärnberg mentions that dietary and lifestyle pattern as a whole is more important than focusing on consuming a single nutrient (2009).

Chronic low grade inflammation can also be related to obesity, even at early ages. Other unhealthy habits, such as the “Western Dietary Pattern”, smoking and drinking, can also be linked  to chronic low-grade inflammation (Wärnberg et al, 2009). The “Western Dietary Pattern” is characterized as being high in refined sugars, starches, saturated fats, trans-fat, and poor in natural antioxidants and fibers from fruits, vegetables, and whole grains. Processed food increases inflammation level in the body, leading to chronic low-grade inflammation. The ideal lifestyle that would satisfy all strategies to reduce inflammation in the body would be characterized by no tobacco use, moderate physical activity, and a high intake of fruits, vegetables, legumes, whole grains, olive oil, and fish.

The Mediterranean diet is mentioned by name and is associated with a lower risk of several forms of cancer, obesity, high cholesterol, high blood pressure, diabetes, heart disease, overall mortality, and reduced levels of inflammatory markers (Wärnberg et al, 2009). The U.S. News lists the Mediterranean Diet as number one in the “Best Diets Overall” category and scores it 4.1 out of 5 stars. There is no calorie counting involved in this diet. Simply put, it involves eating more fruits, vegetables, whole grains, beans, nuts, olive oil, herbs and spices, red wine, and eating fish or seafood at least twice a week (Mediterranean Diet, n.d.). It advises to consume poultry (chicken), eggs, cheese, and yogurt in moderation, while sweets and red meat should be saved for special occasions. Moderate exercise is also advised (Mediterranean Diet, n.d.). This diet is not necessary to reduce inflammation, but a lot of the “do eats” overlap with the list of foods that fit in the ideal diet to reduce inflammation.

Fast food made it convenient and inexpensive to eat, but it wreaks havoc on our bodies. It may be costly and more inconvenient to eat healthy, but it truly has its benefits. What you put in your mouth matters. Eating nutritious foods will keep your body in balance and reduce the risk for many diseases and disorders, premature aging, and add to your quality of life. Incorporating healthier foods into your existing lifestyle is an excellent way to start implementing change. Overall, eating a well-balanced diet and avoiding processed foods reduces the amount of chronic low-grade inflammation in the body, which can prevent or delay the onset of neurodegenerative disorders such as Multiple Sclerosis and Alzheimer’s disease.

References

Ke, Y., & Qian, Z. M. (2003). Iron misregulation in the brain: A primary cause of neurodegenerative disorders. The Lancet Neurology, 2(4), 246-253. doi:10.1016/s1474-4422(03)00353-3

Mediterranean Diet. (n.d.). Retrieved from https://health.usnews.com/best-diet/mediterranean-diet

National Multiple Sclerosis Society. (n.d.). Definition of MS. Retrieved from https://www.nationalmssociety.org/What-is-MS/Definition-of-MS 

Wärnberg, J., Gomez-Martinez, S., Romeo, J., Díaz, L., & Marcos, A. (2009). Nutrition, Inflammation, and Cognitive Function. Annals of the New York Academy of Sciences, 1153(1), 164-175. doi:10.1111/j.1749-6632.2008.03985.x

Categories
Neurodegenerative Disorders

Companion Animals and Alzheimer’s Disease

Alzheimer’s Disease (AD) is the fourth leading cause of death and the fifth leading cause of disability in the United States (Wilson, 2001). AD is a neurodegenerative disorder characterized by impairments in cognitive abilities including memory, language, judgement, and abstract reasoning (Wilson, 2001). Patients with AD constitute a large portion of the nursing home population (Wilson, 2001). The deterioration of the brain that characterizes AD results in numerous difficulties for both the individual suffering from the disease and the caregiver. As the brain deteriorates, the individual’s language abilities become increasingly impaired: this causes communication difficulties between persons with AD and their caregivers (Wilson, 2001). Typically, these disturbed communication patterns have a profound effect on the amount of time persons with AD spend interacting with others. As the communication impairments increase, the time spent interacting with caregivers and loved ones decreases, which is unfortunate because communication is a basic human need that maintains an individual’s contact with the environment while promoting a sense of security (Wilson, 2001). These communication impairments and cognitive impairments make it hard to understand information, thereby resulting in increased levels of stress and agitation for the persons with AD and their caregivers (Churchill, Safaoui, McCabe, & Baun, 1999).

Research studies have proved that using companion animals helps increase socialization and decrease agitation in persons with AD (Churchill et al., 1999). Caregivers can also experience reduced physiological stress by petting companion animals (Wilson, 2001). A study conducted in 1996 showed that having a companion animal reduced the psychological stress of caregivers caring for someone with a neurodegenerative disorder (Fritz, Hart, Farvar, & Kass 1996). Fritz and colleagues (1996) noticed that persons with Alzheimer’s Disease, who were attached to their companion animals, reported significantly fewer mood disorders than those who were not attached to their companion animals. However, they also noted that there was no significant difference in the rate of cognitive decline between those that were exposed to companion animals and those that were not, but there was a significant difference in feelings of agitation and aggression (Fritz et al., 1996). Companion animals have been used in healthcare settings to “reach” individuals who have reduced mental capacity, which hinders their ability to interact with others. Pets provide affection and companionship not contingent on cognitive or physical capacity (Fritz et al., 1996). In other words, pets don’t discriminate based on mental or physical capabilities. They offer  companionship and unconditional love.

A study conducted in 2002 in an Alzheimer’s special care unit set out to see what the effect of a “resident” dog would be on the patients. The behavior of the residents was noted one week prior to the dogs arrival and four weeks after the intervention. Results revealed that participants showed significantly fewer behavior problems during the four weeks spent with the dog (McCabe et al., 2002). The benefits of having companion animals around don’t stop there — in another study conducted by Purdue University, patients with AD improved their nutritional intake when they were around fish aquariums (Edwards et al., 2002). Nutritional intake increased when patients were exposed to the fish daily for two weeks, and continued to increase when exposed to the fish once a week for six weeks (Edwards et al., 2002). The participants in this study gained an average of 1.65 pounds and required less nutritional supplements (Edwards et. al. 2002).  

Lastly, companion animals help to decrease stress, anxiety, agitation, and anger levels in individuals. Whether it is a dog or a fish, having pets around has proven to be beneficial to health and has shown to help individuals with neurodegenerative disorders such as Alzheimer’s Disease. Overall, having a companion animal increases the quality of life for persons with AD and their caregivers by creating a less stressful atmosphere.

References

Churchill M., Safaoui J., McCabe B., Baun M. (1999). Using a therapy dog to alleviate the agitation and desocialization of people with Alzheimer’s Disease. Journal Psychosocial Nursing and Mental Health Services, 37(4) 16-22. doi: 10.3928/0279-3695-19990401-12

Edwards, N. E., & Beck, A. M. (2002). Animal-assisted therapy and nutrition in Alzheimer’s Disease. Western Journal of Nursing Research, 24(6), 697-712. doi:10.1177/019394502320555430

Fritz, C. L., Hart, L. A., Farver, T. B., & Kass, P. H. (1996). Companion Animals and the Psychological Health of Alzheimer Patients Caregivers. Psychological Reports, 78(2), 467-481. doi:10.2466/pr0.1996.78.2.467

Mccabe, B. W., Baun, M. M., Speich, D., & Agrawal, S. (2002). Resident Dog in the Alzheimer’s Special Care Unit. Western Journal of Nursing Research,24(6), 684-696. doi:10.1177/019394502320555421

Wilson, C. C. (2001). Companion Animals in Human Health. Thousand Oaks, CA: Sage.

Categories
Down Syndrome Neurodegenerative Disorders

The Link Between Dementia and Down Syndrome

Imagine what it would be like to start to losing the mosaic of memories that makes you who you are.  Imagine what it would be like to wake up in the morning to find out that familiarity escapes your mind’s grasp.  To look at the faces of your family members and loved ones and find nothing- not a spark of intimacy, not an inkling of that warm feeling in your heart that once was tied to memories of your moments with them.  Nothing.

Imagine not being able to remember the way to the restroom in the morning.  What would it be like to suddenly forget which toothbrush is yours? What would it be like to not remember the taste of your favorite meal or forgetting whether or not you’ve eaten that day? Imagine not being able to do the things you have always loved to do, whether it be swimming, photography, art, or something as simple as going up the stairs of your Aunt’s house.  Imagine getting lost on the way home after you go out on a walk, stranded and alone, not knowing your name or who you are. Those with Down Syndrome have a much higher chance to undergo these experiences in their lifetime. The average prevalence rate of Alzheimer’s dementia in people with Down Syndrome is around 15% that increases with age with signs of Alzheimer’s dementia showing over the age of 35 compared to the average early onset of Alzheimer’s dementia at the age of 40 or 50 (Mayo Clinic, 2018; Nieuwenhuis-Mark, 2009).

Research has found that those with Down Syndrome develop Alzheimer’s disease at an average age younger than the mean age for the general population. In a 20-year longitudinal study done by researchers McCarron and Colleagues, following 77 people with Down Syndrome 35 years and older from 1996 to 2015, it was found that 97.4% of those participants developed dementia at a mean age of 55 years old (McCarron et. al., 2017). The manifestation of psychological changes typical of Alzheimer’s disease occur in nearly all persons with Down Syndrome over the 40 years old (Tyler and Shank, 1996).

The symptoms of Alzheimer’s disease are often debilitating and its consequences can be devastating. Researchers William and Lai followed 96 persons with Down Syndrome and non-treatable dementia for 8 years and found that there are three phases of clinical deterioration in these patients. During the initial phases, individuals with high functioning Down Syndrome spoke less, had trouble with their memory, and had feelings of temporarily traveling through time.  Individuals with low functioning Down Syndrome showed: “apathy, inattention, and decreased social interactions” (Tyler and Shank, 1996). During the second phase of dementia, it was noted that those with Down Syndrome had a decline in daily activity performance, deteriorating work performance, and a shuffling gait (Tyler and Shank, 1996). During the second phase, 84% of persons with Down Syndrome also experience tonic-clonic seizures, which cause body stiffness and convulsions.  During the final phase of dementia, those with Down Syndrome stopped walking and lost voluntary control over their urination and defecation, and they passed away typically within 3 to 5 years of the onset of their dementia (Tyler and Shank, 1996). This is quicker than individuals without Down Syndrome, who have later ages of dementia onset and slower rates of deterioration (Tyler and Shank, 1996).

The importance of research is tantamount in the fields of medicine and psychology to diagnose, understand, and eventually treat such cases.  However, Down Syndrome is the least funded, yet most frequently occurring, chromosomal disorder by the National Institute of Health (Facts and FAQ, 2018). In 2010, Down Syndrome Research Funding took up only 0.0009% of the total NIH Budget of $30,860 million (Research for People, 2018).  It is astounding how little is paid to research for such a prevalent genetic disorder.

However, there is hope.  More research has been done on the association between dementia and Down Syndrome as well as the diagnoses and interventions.  There are now interventions to increase an individual with Down Syndrome’s quality of life and maximize their strengths to help them adjust to their changing abilities and needs and live more comfortably by reducing behavioral disturbances (Nieuwenhuis-Mark, 2009).  As quoted by Niewenhuis-Mark in their article, “the development of dementia of Alzheimer type is frequent but not inevitable, and some people with DS reach old age without clinical features of dementia” (Nieuwenhuis-Mark, 2009).  

Not everyone with Down Syndrome will develop Alzheimer’s dementia in old age, therefore research, understanding, and diagnosis is extremely crucial and time sensitive.  

References:

Facts and FAQ About Down Syndrome. (2018, August 17). Retrieved from https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/?gclid=EAIaIQobChMIiNfm6vi93QIVhB-GCh02KgO-EAAYASAAEgLdz_D_BwE

Mayo Clinic. (2018). Early-onset Alzheimer’s: When symptoms begin before age 65. [online] Available at: https://www.mayoclinic.org/diseases-conditions/alzheimers-disease/in-depth/alzheimers/art-20048356  [Accessed 22 Sep. 2018].

McCarron, M. m., McCallion, P., Reilly, E., Dunne, P., Carroll, R., & Mulryan, N. (2017). A prospective 20-year longitudinal follow-up of dementia in persons with Down syndrome. Journal Of Intellectual Disability Research, 61(9), 843-852. doi:10.1111/jir.12390

Research for People with Down Syndrome: National Institutes of Health Funding. (2018, March 28). Retrieved from https://www.globaldownsyndrome.org/research-for-people-with-down-syndrome-national-institutes-of-health-funding/

Nieuwenhuis-Mark, R. E. (2009). Diagnosing Alzheimer’s dementia in Down syndrome: Problems and possible solutions. Research in Developmental Disabilities,30(5), 827-838. doi:https://doi.org/10.1016/j.ridd.2009.01.010

Tyler, C. V., Jr., & Shank, J. C. (1996, June). Dementia and Down syndrome. Journal of Family Practice, 42(6), 619+. Retrieved from http://link.galegroup.com/apps/doc/A18448466/AONE?u=sunysb&sid=AONE&xid=05d53866

Categories
Neurodegenerative Disorders

The Role of Iron in Neurodegenerative Disorders

Watching a loved one slowly forget everything and everyone in their lives is a painful ordeal, which can be even more aggravating if there is no underlying cause. If a cause cannot be pinpointed, it becomes difficult to justify why such an instance of forgetfulness is occurring. Diseases do not discriminate; major influencers such as Stephen Hawking, Lou Gehrig, Michael J. Fox, Muhammad Ali, and Janet Reno have all suffered from neurodegenerative disorders. But, what is it that causes these disorders? Does it have to do with a person’s lifestyle or genetic predisposition? In actuality, scientists have recently found that the accumulation of iron and iron misregulation in the brain cause neuronal death, which in turn leads to neurodegenerative disorders (Qian, et al, 1998).

Our body needs iron to produce hemoglobin (Cole, 2014). Hemoglobin is the protein that helps red blood cells carry oxygen throughout the body. However, a lack of iron results in reduced levels of hemoglobin, which thereby reduces the amount of oxygen your body is actually absorbing. Being that iron is the most abundant trace metal in the brain, a problem may occur when the iron starts to accumulate and is misregulated.

Researchers have found that mutations in the genes that are supposed to regulate the iron content in the brain are what lead to the misregulation. These mutations can have genetic and non-genetic causes (Ke, et al, 2003). For example, neuroferritinopathy is a movement disorder caused by accumulation of iron in the basal ganglia. The basal ganglia is a group of neurons located deep within the cerebral hemispheres and are primarily involved in processing movement related information. They also process information related to emotions, motivations, and cognitive function. On the other hand, Friedreich’s ataxia is a genetic disease that causes progressive damage to the nervous system. Both of these diseases are associated with mutations in genes that encode proteins and are involved in iron metabolism (Zecca, et al, 2004).

Iron accumulation in the brain is thought to be normal as a person ages. However, high concentrations in certain areas such as the basal ganglia, have been linked to Alzheimer’s and Parkinson’s diseases, both of which are neurodegenerative disorders. In Alzheimer’s disease, iron accumulates in the brain without the age-relate increase in ferritin, which increases the risk of oxidative stress (Zecca, et al, 2004). Oxidative stress is harmful because it disrupts the normal functioning of the cell. Oxidative stress may damage the brain tissue therapy, worsening the progression of the disease or making an individual more susceptible to acquiring a new disease. It is also thought to increase plaque formation through its effects on protein processing. Parkinson’s disease is also associated with the accumulation of iron in the substantia nigra (Zecca, et al, 2004). The substantia nigra is a part of the basal ganglia, and produces the majority of the dopamine that originates in the brain. It is thought to play important roles in learning, drug addiction, emotion, and movement. This causes an increase in oxidative stress and protein aggregation, specifically of the alpha synuclei–the main component in Lewy bodies (Zecca, et al, 2004). Lewy bodies are abnormal aggregates of protein that develop in nerve cells, and are pathological  indicators of Parkinson’s disease.

Researchers believe that if we can understand the timing of iron mismanagement in relation to the loss of neurons in neurodegenerative disorders during aging that such observations can be used as a marker of disease progression. Also, it may assist in diagnosing these disorders before symptoms start to show. This information is also being used to develop new therapeutic strategies for the treatment of neurodegenerative disorders involving iron misregulation. Metal chelators have been used to try and reduce iron concentration in the brain, however there is no significant evidence of its clinical impact (Dusek, 2016). Iron removal therapy has been shown to slow down the progression of neurodegenerative disorders, and may even be able to prevent neurodegeneration. By preventing neurodegeneration, the goal of eradicating neurodegenerative disorders will be closer in reach.

References:

Cole, C., M.D. (2014, June 23). Why is Iron Important in My Diet?[PDF]. University of Michigan Health System.

Dusek, P., Schneider, S. A., & Aaseth, J. (2016, December). Iron chelation in the treatment of neurodegenerative diseases. Retrieved September 16, 2018, from https://www.ncbi.nlm.nih.gov/pubmed/27033472

Ke, Y., & Qian, Z. M. (2003). Iron misregulation in the brain: A primary cause of neurodegenerative disorders. The Lancet Neurology, 2(4), 246-253. doi:10.1016/s1474-4422(03)00353-3

Qian, Z. M., & Wang, Q. (1998). Expression of iron transport proteins and excessive iron accumulation in the brain in neurodegenerative disorders. Brain Research Reviews, 27(3), 257-267. doi:10.1016/s0165-0173(98)00012-5

Zecca, L., Youdim, M. B., Riederer, P., Connor, J. R., & Crichton, R. R. (2004). Iron, brain ageing and neurodegenerative disorders [Abstract]. Nature Reviews. Retrieved September 16, 2018, from https://www.nature.com/articles/nrn1537#references.