Our Immune Systems and Autism Spectrum Disorder

Often when we think about our immune system we think of it helping us survive and fight off disease, but rarely, unless it affects us directly, do we think of our immune system harming us. When this happens, it is called an autoimmune disease. This is when a person’s immune system has a response against self-antigens involving T-cells, B-cells, or autoantibodies, all of which are specialized immune cells in our bodies.
This immune response can cause systematic injury or attack a specific organ system, resulting in diseases such as rheumatoid arthritis, lupus, or inflammatory bowel arthritis. I wouldn’t be surprised if a lot of people had no idea that these are autoimmune diseases.
These autoimmune diseases are more prevalent than we might think, though. According to the Centers for Disease Control and Prevention, autoimmune diseases are the third most common category of disease behind heart disease and cancer, affecting about 8% of our population (22 million people), maybe many more in a minor capacity. More than 75% of these people are women.
Because of this, it is extremely important that researchers have linked autoimmune diseases and immune dysfunction to Autism Spectrum Disorder (ASD). Research has shown since the 1950s that autoantibodies produced by a pregnant woman with an autoimmune disease can harm the neurodevelopment of the embryo. More recently, though, this hindrance of neurodevelopment has been shown to cause ASD.
The autoantibodies mentioned above are specialized antibodies (proteins that are produced by the cells of the immune system to identify and neutralize pathogens) that are directed against the individual’s own cells. The production of these autoantibodies is the cause of many autoimmune diseases, and the fact that they attack the individual’s own cells is what causes many of the symptoms associated with the disease. In the case of ASD specific autoantibodies, anti-brain autoantibodies, are thought to cause ASD because they attack proteins and cells in the brain of the developing embryo. They have been shown to attack proteins such as lactate dehydrogenase A (LDH-A) and B (LDH-B), stress-induced phosphoprotein 1 (STIP1), guanine deaminase, collapsin response mediator proteins 1 (CRMP1) and 2 (CRMP2), Y-box binding protein 1, and others (Figure 1), all of which have important roles in neurodevelopment.
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A study published in 2009 studied the prevalence of ASD in 700,000 children born in Denmark, finding that type 1 diabetes, rheumatoid arthritis, and celiac disease (all of which are autoimmune diseases) correspond to increase risk of ASD. Another study showed that maternal autoimmune diseases were linked to a 34% increase in risk for developing ASD.
The antigens recognized by maternal autoantigens are significant because several of the targets of the autoantigens are critical for normal brain development, specifically processes essential for neuronal migration and neural network formation. The studies that show links between maternal autoantibodies and ASD were performed in humans, so the mechanism of how these autoantibodies cause ASD is still not completely understood. Animal models are currently being studied intensely to hopefully discover the etiology of ASD in relation to immune dysfunction.
Murine and primate models have been used to study the clinical significance of maternal autoantibodies to show that they are not just correlative. To do so, primate mothers were injected with IgG, an autoantibody, and their offspring were studied. Social behaviors in these offspring were different than normal primates and stereotypical of patients with ASD. Similar studies were carried out in mice and the findings were similar to those found in the primate studies ().
Other research groups have also linked the presence of anti-brain autoantibodies to other behavioral disorders such as schizophrenia, Tourette syndrome, and obsessive compulsive disorder. Unlike the autoantibodies found in the brains of individuals with these diseases, the autoantibodies found in the brains of patients with ASD have been shown to preferentially bind to fetal targets instead of adult targets, which could be the reason that they hinder neurodevelopment in the way that they do.
There is still much unknown about autoantibodies, but researchers hope that by discovering the mechanism by which autoantibodies hinder neurodevelopment they will be able to implement therapeutic interventions that could prevent ASD and other neurodevelopmental or psychiatric disorders.

Autism at a Glance: Two Factors Increasing Risk of Autism

According to our article,” Environmental Factors in Autism”, their definition states Autism as neurodevelopmental disorders characterized by impairments in communication and social behavior, and by repetitive behaviors.
There are so many factors out in today’s society that are possibly the reason why we are seeing more and more autism cases today. Autism usually appears in the first three years of a child’s life by certain signs like no big smiles or other warm expressions by six months or like no words being spoken by 16 months.
In this blog, I want to talk about two factors that may be causing higher chances of having a child with autism—maternal diabetes and toxins.
First, let’s talk about maternal diabetes. According to our sources in our article, if a mother is pregnant and has diabetes, her child has a two-fold increases risk of obtaining Autism. Current research has proven links between obesity in the mother and her having higher chances of giving birth to a child with autism. However, other metabolic conditions like hypertension or diabetes really only showed trends for the risk of autism.
Secondly, toxins threaten developing fetuses which can cause birth defects. Two main agents are on scientists lists and they are called valproic acid and thalidomide. Valproic acid, when administered in utero, delays and lifelong deficits in motor performance, social behavior, and anxiety. For thalidomide, it regulates cytokine levels and macrophage inflammatory function. It was first used as an antiemetic in the 1950s but was found to cause birth defects shortly after. Finally, one study found that women who were early in pregnancy and were in close range to organochlorine pesticides which were sprayed on fields, had several more times likely of giving birth to a child with autism. These are all toxins that are shown to increase chances of birth defects and possibly cause autism but as of current research now, the concordance rate isn’t 100% and therefore, suggests genetics must play some role for a toxin to act as a trigger.
Science has shown that genetics play a role in autism spectrum disorders, but it also has revealed that genetics cannot fully account for all ASD cases, and thus that’s were many factors come into play like maternal diabetes and exposed toxins.
 

Genetic Mutations and Pica in Autism

Autism is a very complex disorder that has a wide spectrum of severity. Some of the broader symptoms used to diagnose autism, per The National Institute of Mental Health, are:

  • Ongoing social problems that include difficulty communicating and interacting with others
  • Repetitive behaviors as well as limited interests or activities
  • Symptoms that typically are recognized in the first two years of life
  • Symptoms that hurt the individual’s ability to function socially, at school or work, or other areas of life

Individuals with autism can also suffer from a variety of physical ailments, such as difficulty sleeping and digestive trouble.

Pica in Autism

Due to the physical and mental effects of autism, some individuals eat objects with no nutritional value, such as dirt, which is a disorder called pica. Pica is prevalent among individuals with autism, although there are no concrete numbers about the percentage of autistic individuals with pica.
There are a variety of theories as to why pica is so prevalent in individuals with autism. One thought is that, especially in cases of severe mental deficit, the individuals have difficulty discerning edible objects from inedible ones. Another theory is that individuals are lacking certain vitamins and minerals because they cannot tolerate some foods or because their bodies are unable to properly absorb nutrients from their food, which is why they would eat mineral-rich things like dirt.

Zinc Deficiency in Autism

Many individuals with autism have a deficiency in zinc, but it has a very complicated role in autism. Some studies attribute zinc deficiency to the development of autism while others cite it as a result of improper diet in individuals with autism.
Zinc could lead to autism because it is a key mineral for growth and development as well as immune function, so deficiency could lead to improper development, leading to autism. It could be a result of autism because of the gastrointestinal distress discussed earlier. Scientists have also found a genetic mutation that could contribute to zinc deficiency, and, therefore, to autism.

Mutations in ATP7B Gene

There is a gene called ATP7B that, when it is faulty in both copies of the gene, leads to Wilson’s disease, which is a disease of copper toxicity. When only one of the copies of the gene is mutated, there is less significant pathology, but it is hypothesized that copper overload of babies in utero could inhibit brain development and lead to autism.
The ATP7B gene codes for a channel that moves copper in and out of cells, and when it isn’t working right, copper can’t leave the cells. Copper and zinc compete for binding spots in the cell, so when there is excess of copper, it binds all of the spots and leaves zinc just floating in the cell.
The cell sees the zinc as being in excess, because it is not bound to anything, and excretes it. This leads to loss of zinc, which leads to the zinc deficiency that could cause improper development of the brain, which could lead to autism.
This zinc deficiency would not only be present in utero, but throughout the individual’s life. This genetic mutation, coupled with gastrointestinal difficulty and/or an inability to discern edible objects from inedible ones, could contribute to the prevalence of pica in autism.
 
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Autism: A Classroom Perspective

If a kid doesn’t participate in class, they get a bad grade.  If they act out or are disrespectful, they get sent to the principal’s office.
There is typically a pretty fine line between right and wrong, and they should know better right?
In my opinion, teachers have one of the most difficult jobs these days.  They put in long hours, although they’re not paid by the hour; more often than not they take their work home with them; it is both physically and emotionally draining maintaining energy and keeping a group of students’ focus, let alone getting them excited about a subject; not to mention, teachers have to appease parents, students, administration…sounds like a whole ton of fun.
Now, on top of all of that more and more students are being diagnosed with learning problems, behavioral problems, etc. And teachers are expected to know about these and be sensitive to them, when in many cases they don’t even know much about them.
Such is the case with autism.
According to a study done in 2010, the U.S. Centers for Disease Control and Prevention (CDC) estimated that ASD prevalence was 1 in 68 among children age 8 years.
Now, I’m not a school teacher, but I have been a camp counselor, dance instructor, and Sunday school teacher and have worked with kids with both learning and behavioral problems.
Let me say this: it is nearly impossible give each student individual attention, while still being able to accomplish a lesson – and that’s when a teacher doesn’t have a student with a learning or behavioral problem.
Autism is now officially referred to as autism spectrum disorder (ASD). Which means, much as it sounds, that its level of severity ranges – on a rather broad – spectrum. Some individuals can remain high functioning, where other’s may be severely impaired.
Regardless of its severity, science has made one thing very clear. ASD is a disorder. Whether as a result of environmental or genetic factors or both (jury’s still out on that one), distinct brain abnormalities can be observed in the brains of individuals with autism. Decreased signal transduction, improper synapse formation and decreased plasticity can lead to a slew of problems, hence the wide array of symptoms and levels of functioning seen in ASD.
Yet all too often we fail to remember this. We view people as weird, or socially awkward. They’re being disrespectful, they’re acting out to get attention. We think they’ll “grow out of it.”  We attribute it to bad parenting or lack of social interaction and we think that a little tough love will fix everything. And when it doesn’t; when we finally turn to medicine to see if maybe it was more than we thought, we are overwrought with guilt. We feel so ashamed to have wasted so much time blaming them for something they had no control over all along.
This is something that happens in our school systems as well and it is detrimental to the education of these young children with autism.
In fact, it wasn’t until 1992 that schools began to include autism as a special education classification. However, even now, schools either don’t have the funding, or the mindset to support this.
Whether the result of teachers, administration, or lack of funding, students with autism are not getting the education or accommodations they need.
To be honest, I’m not a fan of the term accommodations. It sounds like an entitlement given to undeserving individuals, but here that is definitely not the case.
Student’s with autism DO need special accommodations. This is a fact, and it is also a fact that their needs are rarely being met. Many students with ASD can’t focus properly. They are easily distracted and may need isolation for a test or quiz to be able to focus. On top of that, many individuals with ASD are anxious in social settings, which can also contribute to poor performance when forced to work in such conditions.
But it’s more than letting a student take a test in another room. Student’s with ASD throw tantrums; they need to be somewhere they can do this without interrupting class and also without fear of repercussion for something that is out of their control. Student’s with ASD also may have difficulties confronting or interacting with others, resulting from their social anxiety. This means any accommodations they may need, they can’t or won’t even ask for. And in many cases, there is no one else to speak for them.
It is becoming an increasing demand that schools have a special environment for individuals with ASD, as well as instructors specifically trained to work with them and help them reach their goals. This would not only be beneficial for these students, but for the other students in the school as well as the other teachers.
That being said, it is also important for these individual students with ASD to remain as part of the school and not be isolated. Social encounters are highly beneficial for individuals with ASD.
How can we manage this? In many cases, it is a problem of funding. However, in a situation as critical as this, I find it difficult to believe that there are not less important issues that funds could be diverted away from. If it is the case of administration or teacher resistance, they must be educated and from then on held accountable for their actions on behalf of such students.
It’s time we stop labeling individuals as weird or awkward. Tough love may have worked on the kid who was shooting spitballs in the lunchroom, but not here. We need to start identifying the problem and working to solve it, rather that denying its existence or expecting it to just “go away.”

Searching for Answers About Autism

Autism Spectrum Disorder (ASD) is something I have grappled with trying to understand for much of my life. I think I grew up with the idea that autism was a consistent disorder between everyone with the diagnosis–that they all have severe issues functioning independently and learning in school. In high school, someone I had worked with in a theatre production shared that they had autism about 2 months after I had known him–I would have never thought this was the case.
This friend had a milder diagnosis of ASD called Asperger’s, and this is when I learned that Autism did not manifest the same in all people.
This realization became an extra challenge when I started researching the biochemical and environmental factors that cause the development of autism. In one paper by Andreas Grabrucker, titled “Environmental Factors in Autism,” he identified eight risk factors that impact neurological functioning leading to the development of autism.

  1. Prenatal viral infection–Maternal infection, autoimmune disease, and/or allergy could change the immunity of the fetal brain and the fetal immune system
  2. Zinc deficiency–Maternal or early development zinc deficiency might give an explanation of gene/environment interaction
  3. Abnormal melatonin synthesis–Melatonin regulates the circadian rhythm, is an antioxidant, is involved in the immune response, and regulates synaptic plasticity
  4. Maternal diabetes–Diabetes in the mother during pregnancy increases autism risk by 200%
  5. Prenatal and perinatal stress–Prenatal stress activates the HPA axis resulting in abnormalities in postnatal immune function
  6. Toxins–Certain pesticides may contribute to autism as well as psychiatric drugs taken by the mother during pregnancy
  7. Parental age–Advanced maternal age might contribute through increased pregnancy complications and maternal autoimmunity
  8. Postnatal risk factors–Gastrointestinal or immune system abnormalities, allergies, and exposure of children to drugs, infection, certain foods or heavy metals have been proposed a s risk factor for autism

There is a strong role of the placenta,  in regards to what passes from mother to fetus that may lead to development of autism. Here are some examples of substances that can pass through the placenta during pregnancy.
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If all of these explanations weren’t complicated enough on their own, Grabucker describes many of these risk factors being related to each other, and an interconnected model of risk factors is proposed with zinc deficiency and immune system abnormalities placed in the center.
To eloquently provide a hypothesis that incorporates how all of these factors work together would be extremely helpful reducing rates of autism.
Here are some 2016 facts from the Centers for Disease Control and Prevention about current autism rates in the U.S.:

  • 1 in 68 children have ASD
  • Boys are 4.5 more likely to have ASD diagnosis than girls
  • Until recently, rates have risen since the 1960s
  • Rates have are unchanged from 2 years ago

As researchers continue to try to prevent the development of autism, it is important for our entire society to think about how to best care for individuals and families affected by autism.
Starting in the 1970s, federal guidelines supported the inclusion of children with special needs into mainstream schooling, mandating that these students be placed in the least restrictive environment for their education. Eileen Bailey, a health guide for Health Central, outlines the benefits and disadvantages of mainstreaming students with ASD.
Benefits:

  • Prepares students for life outside of school–learning how to interact with different types of people
  • Early inclusion may help increase IQ scores of ASD students
  • Neurotypical students provide an example of appropriate social behavior for ASD students

Disadvantages:

  • Teachers don’t have training or time to tend to needs of ASD students
  • ASD students may require nontraditional classroom instruction
  • May subject ASD students to be bullied

The juxtaposition of these benefits and disadvantages illustrates the ambiguity of mainstreaming ASD students in classrooms.
All in all, as I continue to seek answers in my study of autism, I seem to end up with additional questions and a more complex idea of it all. From the many interconnected risk factors for its development, to the uncertain societal solutions for supporting individuals with autism.

My Experience as a Special Education Aid – Dealing With Autism in Kids

Back in my home town in Montana I have had the pleasure of working as an aid alongside some of the staff in my old school’s special education department. Over the past three year’s I have helped as an aid with these children after I had gotten done with classes for the semester and the majority of these children I worked with had autism. I had never worked with special needs kids before, so at the beginning of this experience I was definitely nervous.
I have been doing this because I enjoy the challenge of working with these children. I feel as if I am truly a part of helping people’s education as I work with and have watched these children progress over the past few years.
Now, the way you have to work with these children really varies from child to child, and as such every child needs to be cared for differently. Most of these children are very set in their ways and behaviors though. They have strict schedules that they all follow and any deviation from that schedule usually results in increased difficult behaviors.
It can be very strange for the outside observer watching in. For example, one of the children the first year I aided had a lot of peculiar qualities. The first time I saw him walk around and meow like a cat I asked one of the special ed. teachers if I should intervene. They told me right away that while I might feel like kids should have to act a certain way, sometimes intervening with these children just wouldn’t work. This is just their normal behavior and sometimes it needed to be accepted. The children in the classroom I were in were generally cased as the more moderate to severe children on the spectrum, and the high functioning ones that can follow normal rules are normally integrated into the regular classrooms.
Obviously this outward behavior was not always tolerate, and sometimes if he refused to transition to the next activity planned for him we would have to take away one of his “fun” activities for the day, which was never very fun because he didn’t always agree with doing that. Some of the children sometimes even had “meltdown” experiences with inconsolable crying and tantruming. The major problem with these were that we weren’t always sure what caused them and it made it hard to prevent the situations from happening again in the future.
There were a many other difficulties I experienced with working with these children. Many of the children I worked with had underdeveloped language skills that is a common problem among autistic children, preferred to be alone instead of interacting with the other children and had other difficulties in expressing needs and emotions. This made it particularly harder to interpret the individual needs of these children, but all the more rewarding when the hard work you put into these individuals in reflected in better behaviors.
Overall my experiences as a special education aid have been very beneficial for my own growth as a person. I have learned to work with kids, and especially special needs kids, at a much more helpful level than I ever thought I would be able to. If you ever find yourself in the situation where you can work with children’s in the special need’s department, I suggest you try it even if you think you might not enjoy it, it is truly a rewarding experience.

A Window Into the Physiological Condition of an Autistic Brain

By way of definition, Autism is a neurodevelopmental disorder characterized by impairments in communication and social behavior, and by repetitive behaviors. Recent research has shone a light on the fact that while genetic factors are largely responsible for the occurrence of autism, specific environmental factors might act as risk factors triggering the development of autism in some instances. Thus, the confluence of environmental triggers and autism related genes is currently an area of keen research interest. As highlighted by Ashwood et. al. in a 2006 paper, for successful development of the central nervous system  to occur, a functional or normal balance of the immune response is paramount. Ergo, the brains of Autistic patients are characterized by structural and signaling synaptic deficiencies as well as a dysregulation of neuronal survival and growth factors named neurotrophins, all of which seem to be tied to a common thread of Zn 2+ and Immune system abnormalities, among other pertinent but less significant environmental factors.
A few of the environmental factors that trigger the mutation or expression of mutant autism related genes, affect Zn 2+ homeostasis, and proper immune system function include maternal diabetes, heavy metal poisoning, prenatal stress, parental age, malnutrition, psychiatric drugs, toxins, and melatonin deficiency. Regarding immune system abnormalities, a cytokine imbalance is characteristic in the CSF of autistic individuals, and could be the starting point of the inflammatory state, leading to the disruption of trophic factors and increased apoptotic signaling in the cytoarchitecture in the CNS. Consequently, neurodevelopmental arrest or slowed down growth occurs. In the case of the cytokine IL-6, an associated increased expression of proteins called metallothioneins (MTs) that cause Zinc sequestration has been noted. Its worth noting that Zinc is a necessary co-factor for the proper activity of a vast amount of enzymes and proteins. Furthermore, both Zn 2+ deficiency and IL-6 have been shown to cause a reduction in the activity of Insulin-like Growth Factor 1 (IGF-1), a substrate for the IGF-1 receptor that is a component of the PI3K-Akt and Erk- pathways. The former modulates neuronal growth as well as dendritic and axonal maturation and the latter, the expression of neurotrophins imperative for proper neurodevelopment.
While deciphering all the interconnections involved in the physiological state of autism might seem like trying to pick needles out of a haystack, the best that you the reader can do is to avoid the environmental stressors that trigger the expression of autism related genes. For instance, plan on having your children at a younger age to avoid autoimmunity issues, ensure that you are not over or malnourished, ladies avoid taking psychotic medications when pregnant and manage your Zn 2+ and blood sugar levels when pregnant. Special mention to researches working to elucidate the pathophysiology of autism and highlight possible treatment targets, I implore you the reader to support research efforts in this regard.

Are We Too Stressed?

Autism Spectrum Disorder has been rising in the United States (an increase of 40% since 2000 according to the CDC) since Dr. Kanner discovered it in 1943. This is rise doesn’t have a certain contribution however due to its ever changing standards that qualify someone in the spectrum.
In majority, Autism is mainly caused by genetic factors that can predestine a child to impaired social and communication behaviors but maybe even heightened intelligence. However, in a paper published in 2013 that looked at environmental factors associated with Autism, stress seemed to stick out like a sore thumb.
How can stress cause a neurological disorder? The paper talks a lot about how prenatal stress can influence the development of the baby and even cause changes that previously would not have been a factor. They still think that genetics is the leading cause but that stress may play a role in increasing the risk.
An important system in the body is the HPA axis or hypothalamic-pituitary-adrenal axis that is responsible for the neuroendocrine adaptation component of the stress response. The stressor signals to the hypothalamus to start a cascade of hormones to be processed until a certain blood concentration of cortisol this protection is seemingly achieved and the cortisol exerts negative feedback to the hypothalamus.hpa-axis-stress-response
One study looked at autistic children versus typical children cortisol circadian rhythm. They found that both groups showed expected circadian variation with higher cortisol concentration in morning than in the evening samples. The children with autism, but not typical children, showed a more variable circadian rhythm as well as statistically significant elevations in cortisol following exposure to a novel, nonsocial stimulus.
The HPA axis can also modulate the immune system in response to a stressor, with high levels of cortisol resulting in a suppression of immune and inflammatory reactions. This helps to protect the organism from a lethal over activation of the immune system, and minimizes tissue damage from inflammation.
With repeated exposure to stressors the HPA axis can become sensitized and no longer function correctly under stressed conditions causing dys-regulation of the immune system at a critical time in development.
Stress is a mainstay in our society nowadays, with economics being its pusher. Taking time to relax while pregnant should be kept in mind, since many implications of stress are now being realized.

The Science Behind the Ice Bucket Challenge

Anyone who has social media has probably heard of the ice bucket challenge. Many of you might have participated in this whacky challenge. But who actually knows how this got started? Do you know what the challenge is raising awareness for?
The ice bucket challenge was designed to raise awareness for amyotrophic lateral sclerosis (ALS). If someone was nominated for this challenge they were supposed to dump a bucket of freezing water over their head, or they could make a donation instead. The goal was to raise awareness and money for further research on this disease.
ALS is a debilitating disease that will destroy the motor neurons, which will lead to complete loss of muscle control in later stages. Eventually, this disease will be fatal for those who have it. The money from this challenge has helped to try and find a way to stop the onset and progression of ALS.
The Neurochemistry
ALS is a neurodegenerative disorder that affects a person’s ability to control muscle movement. Neurons throughout the body are controlled by the brain, and tell the rest of the body when to move. When these motor neurons are destroyed the person will lose all ability to control the muscles in their body, which will lead to death.
Research in the Journal of Neuroscience Letters, by Bozzo and colleagues, details some of the problems that can lead to ALS. The two main factors discussed throughout this article were mitochondrial damage and oxidative stress.
There is a RNA binding protein, called TDP43, that is largely affected by oxidative stress. This protein will form protein aggregates within cells under oxidative stress. These aggregates cannot be broken down if the mitochondria are not functioning properly. These aggregates hinder the cells ability to function normally.
The neurochemistry behind ALS is very complex, and it is still being studied. There are numerous connections that still need to be made to establish a concrete pathway that could cause this disease. In science, there is never an easy explanation to the pathology of a disease.
New discoveries
There are familial and sporadic cases of ALS. Familial cases are inherited genes that are associated with ALS. Sporadic cases are characterized by random mutations, and it can affect anyone.
According to the ALS association, the money that was raised from the ice bucket challenge helped scientists identify a new gene associated with the disease. The NEK1 gene was identified, and found to be one of the most common genetic components associated with ALS.
This gene was identified by almost 100 scientists that are part of Project MinE. Project MinE is doing genetic testing with thousands of individuals with ALS across the world. They are comparing these genomes to those of healthy individuals to identify genes associated with ALS.
The ice bucket challenge raised so much money that the ALS association was able to contribute one million dollars to Project MinE. This monetary contribution was a big reason that this new gene was identified.
New finding are important because they can be targeted for new drugs. There is currently no cure for this disease. There are only medications to slow down the progression of ALS. Developing new drugs to help people who suffer from this disease is a top priority for many researchers today.

ALS

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease is a neurodegenerative brain disease. It has multiple causes, such as various mutations, and concussions and head trauma may also play a role. In over 90% of cases of ALS the cause is unknown. Only about 5-10% of cases of ALS are inherited from a person’s parents.
There is no cure for ALS. The average life expectancy for somebody with ALS is about 2-5 years. There is one medication, Riluzole that can extend some people’s lives for about 2-3 months. There are some forms of ALS that take significantly longer, but most people diagnosed with ALS sadly do not have long to live.
ALS usually starts with subtle muscle weakness. It can also start with shaking, tripping, or speech problems. However, in most cases it starts with muscle weakness in the arms and legs. Over time the muscle weakness worsens, leading to difficulty swallowing, walking, and even breathing. As ALS progresses patients must use wheelchairs, be unable to speak, and eventually need assistance breathing. Most people with ALS die because of respiratory failure.
ALS is difficult to diagnose. The symptoms of many other diseases can easily be mistaken for ALS. Patients undergoing the process of diagnosis usually get two or three opinions as well as a variety of tests to determine it is in fact ALS and not another disorder.
Most treatments for ALS are focused on improving a patient’s immediate quality of life. Treatments include: physical therapy, speech therapy, nutritional support, and eventually end of life care, sometimes including mechanical respiration.
There are a lot of ethical issues with treating ALS. Since patients do not lose brain function, physician assisted suicide is often brought up. There is also the cost of treatment. Riluzole, the only FDA approved medication for ALS is over $1000 a month. ALS is already a horrible disease. The financial and emotional burdens that falls on family members only make everything worse.
ALS is a tragic disease. It is important that people know about it so that people with ALS can access the support and care that they need. Some awareness efforts, most notably the ice bucket challenge, have been successful. Still, there is work to do to do to research and treat ALS.

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