The Future Has…. Flags?

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Ask yourself for a moment, is tackle football really something the youth should be involved in? I know I probably sound like an old geezer tweeting vigorously about “the younger generation” when I say that, but seriously think about it for a moment. People talk about how the brain doesn’t stop developing until roughly the age of 25. Concussions are bad at any point in ones life, but before 25 when rapid cognitive development is occurring, large concussive impacts along with that development seem to be a recipe for disaster. Sure tackle football can teach great life lessons and foster lifelong relationships, but it can also leave those that play it in an altered mental state for the remainder of their lives. Ok, watch the video directly below and then we’ll talk again on the other side.

Video 1

So… did your opinion change? What is an age that you would feel comfortable allowing your own children to start tackle football, if at all?

Is flag football a safer alternative?

American Flag Football Leauge Ultimate Final in EaDo: July 2018 | 365 Houston

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Lets take a moment to look at some statistics before you judge flag football too harshly. Tackle football players age 6-14 sustained 15 times more head impacts than their flag football counterparts. Head impacts that were considered to be “hard hitting” occurred 25 times more frequently in tackle football than flag football. Essentially, in tackle football head impacts occurred far more frequently and with far greater force. These factors create more opportunity for concussions to occur in tackle football than in flag football. This inherently makes sense, it is the nature of flag football to mitigate collisions.

Ok, lets continue looking into the differences. Flag football players have a median of 8 head impacts per season while tackle football players experience a staggering 378 head impacts per season. These numbers alone should worry any parent who has a child involved in tackle football, think about that number for a second and consider the last time that you had a head impact let alone 378. I like football a lot, my brother and entire family played it, but I would be hesitant to put my future children in harms way. Even if the 378 head impacts are minor they can still compile on one another to create issues. My brother was a lineman in football, he would usually experience relatively few large hits but he would be hit nearly every play on the line for an entire game. The small hits he took throughout the game were so great in number that he sometimes had concussive like symptoms even though he never took a “big hit.” Look at the hit he delivers to the opponent in this play alone, this is not an anomaly is football, rather it is the norm. For reference he’s the big guy in blue in the middle that levels the orange player. Yes he delivered the hit in this situation to parts of the body other than the head, but there were plenty of times that the hits were in the direction of his head.

Video 2; via me

Youth football players can be as young as 5 years old. Think about that, if these same players get to play college ball they have played 13 years of football already. That means they’ve had 13 years to potentially suffer concussions. If they start at, oh lets say 10, then they have 8 years where they are compiling head impacts. Sure, kids will be kids and they will most likely receive injuries regardless of what we do to protect them, but allowing them to play tackle football is exacerbating the amount of those potential injuries.

The amount of head-to-head contact is directly responsible for the rates of concussions within youth athletes, eliminating that impact would alleviate the risk for concussions. As players get older they exert more force on one another and the subsequent rates of a concussion occurring increases. Because they exert more force on one another upon impact they are able to hurt one another in all new ways, not just via direct head-to-head impact. For example a player gets hit so hard that his head “whiplashes” and he gets a concussion. It is not longer the direct head contact that causes the injury but the force itself. The implementation of flag football as an alternative to highschool JV and Varsity football would help to alleviate the impacts on players brains. Sure, tackle football might be more fun to watch then flag football, that is all subjective and a personal opinion. However, one must ask the following; is risking player safety worth it when there seems to be an alternative. When players have a helmet on they feel invincible, the male football players in my school were completely indifferent to what they were doing to their bodies, in particular their brain. If tackle football removed equipment and still had contact it would essentially be rugby, which also has staggering rates of concussion due to high impact on the head. The implementation of flags allows for the alleviation of detrimental contact while still allowing for the beneficial nature of football (i.e. the life lessons, teamwork, and friendships that a sport creates).  Spearing rule for offense – Deep South Sports

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Historically speaking, money is football and football is contact. College football makes 4 billion dollars a year on only 65 of its teams, even more if you include the other hundreds of colleges involved in the many leagues. In the NFL, one franchise alone is worth 3.5 billion dollars on average. Tackle football certainly sells, and I’m actually not proposing we stop any of it. In fact I sit down every Sunday to watch the Vikings lose in spectacular fashion while simultaneously wishing I hadn’t. What I am proposing is that perhaps there needs to be some form of intervention that protects players before they join college teams. Players should be able to grasp and understand the negative side of football before their heads are at risk and they lose the capacity to do so. Eliminating years of potential concussion can benefit those that move on to future contact football, allowing them to start at an older age with a cleaner cognitive slate.

 

“Comparing Head Impacts in Youth Tackle and Flag Football.” Centers for Disease Control and Prevention. Centers for Disease Control and Prevention, May 19, 2021. https://www.cdc.gov/traumaticbraininjury/pubs/youth_football_head_impacts.html.

Jacobson, N. A., Buzas, D., & Morawa, L. G. (2013). Concussions from youth football: results from neiss hospitals over an 11-year time frame, 2002-2012. Orthopaedic Journal of Sports Medicine1(7), 2325967113517860–2325967113517860. https://doi.org/10.1177/2325967113517860

Concussions

What is a concussion?

Concussions are also known as mild traumatic brain injuries (TBI). Concussions are an injury to the brain that is caused by a blow or jolt to the head. They can also be caused by a blow to the body that causes the head to move/ shift quickly which in turn causes the brain to shift quickly inside the skull. Due to this shift, there is a disruption to normal brain functioning. The main point is that during the rapid shifting of the brain, neurons are injured due to them being stretched and can potentially be broken. Concussions are more likely to occur in females, as they have smaller, more breakable nerve fibers. 

What happens to the brain during a concussion (mild TBI)? 

  • Ionic flux 
      • Potassium going out, sodium going in → membrane permeability starts to have
        problems due to the mild TBI 
      • Membrane permeability becomes “leaky”: notice images to the right

     

     

  • Glutamate release → NMDA receptor 
      • Excess glutamate release means more glutamate binding to its receptors 

     

  • ATP usage increases via excess glycolysis 
    • Injuries to the neurons causes chemicals to leak in and out of the cells
    • When the membrane permeability is “leaky” → attempting to reestablish all the proper concentration gradients 
    • The chemical leaks destabilize the neurons away from their typical state → Large amounts of ATP are required in order to reestablish the proper concentrations gradients 
  • Energy crisis 
    • Mitochondria is stressed out and overworked due to dealing with all of the excess calcium so ATP is diminished 
      • ROS increases 
    • Diminished blood flow to this part of the brain due to energy crisis 
  • Proteasome activation
    • Calcium also increases proteasome activation → proteasomes help to break down proteins 
      • When cell in a stressed place, it begins the breakdown of things that should not be broken down to begin with
    • There is cytoskeletal damage 
    • Inflammation 
      • Upregulation of cytokines trying to fix some of the damage 
    • Axonal dysfunction

Symptoms of concussion:

  • Migraine
  • Decreased reaction time 
  • Slow cognition 
  • Memory impairment 
  • vulnerability to repeated injury 
  • Hippocampus and cerebral decrease 
  • Changes in protein degradation 
  • Chronic atrophy

Treatment options: 

  • Relative rest 
    • Physical rest; recommended for two days after concussion
    • Mental rest; recommended for two days after concussion 
  •  Complete rest 
    • It is important to note that complete rest (such as very low stimulation areas; dark room with little to no brain stimulation) is not recommended
  • Avoid physical activity
  • When returning to complete activity 
    • Add activities back into daily life routine gradually 
  • Medications
    • Tylenol is recommended during concussions for any pain relief necessary 
    • Ibuprofen and Advil are not advised as they do increase bleeding 

Sources: 

Giza, C. C., & Hovda, D. A. (2014). The New Neurometabolic Cascade of Concussion. Congress of Neurological Surgeons. 

Mayo Foundation for Medical Education and Research. (2020, February 22). Concussion. Mayo Clinic. Retrieved November 14, 2021, from https://www.mayoclinic.org/diseases-conditions/concussion/diagnosis-treatment/drc-203

Sandel , E. (Ed.). (n.d.). What happens to your brain when you get a concussion? Concussion Alliance. Retrieved November 14, 2021, from  https://www.concussionalliance.org/what-happens-to-your-brain

The ImPACT of Concussions

New Theories About Brain Concussions - PhysioFit Physical Therapy & Wellness

Figure 1: A mapping of general symptoms associated with concussions.

What is a concussion?

Put simply, a concussion is the result of a mild traumatic brain injury (mTBI). This is common when the brain bounces off of the inside of the skull because of a great force that is applied to the head in a short amount of time. Common examples come from collisions in sports like football and hockey as well as head injuries resulting from falling or car crashes. The cellular mechanics of these events are pictured below in Figure 2.

Figure 2: A map of what happens on a cellular level when the brain experiences a TBI.

To explain what is happening in Figure 2, it makes to try to follow a chronological timeline after injury. First, because of the injury, holes in the plasma membrane are going to develop. This leads to an ion flux because the axon is no longer to maintain an ion gradient between the inside and outside of the cell. Because of this, an energy crisis is going to occur for 2 main reasons: ion pumps and mitochondria dysfunction. Ion pumps are going to be overworked trying to maintain an ion gradient (which will be nearly impossible because of the holes in the plasma membrane due to the injury), which is important because these are ATP activated channels. So, a lot of energy is going to be used attempting this process. To further propagate this energy crisis, the cell becomes overwhelmed by calcium ions, which it will then deposit in the mitochondria for storage. If there is too much of this calcium deposition, the mitochondria will stop working. This effectively shuts down ATP production by the mitochondria. Instead, the cell must now use glycolysis to produce ATP, which is much less efficient. Overall these events lead to a stressed out cell.

ImPACT Testing - Physical Therapy Innovations - MA

Figure 3: Logo from the ImPACT testing website.

The importance of knowing recovery time

With neural damage as serious as mentioned above, it is very important for people to know when they have a concussion. Subsequent injury during a healing period from an initial mTBI can cause very serious brain damage and an associated longer recovery time. So what is there to test if someone has a concussion? Well one method is ImPACT testing. ImPACT testing is a way to test spatial memory and cognitive speed through a series of tests. It works because the user takes an initial baseline test when they aren’t experiencing a brain injury and then are tested against that baseline when there is a suspected brain injury. However, this method is subject to flawed results as the user could purposefully “tank” their first score so that they pass when they are experiencing a brain injury. The test itself is also subject to flaws. A user taking the test back to back might experience a very different score because of the nature of the test and the time component associate with it.

Magnetic Resonance Imaging (MRI)

Figure 4: Picture of an MRI commonly used in fMRI and BOLD signaling analysis.

What to use instead?

Because of the flaws of the ImPACT test, I propose focusing on an emerging practice of using functional nuclear magnetic resonance imaging (fMRI) to analyze blood-oxygen level dependent (BOLD) signaling in the brain. BOLD signaling analysis works because deoxyhemoglobin (deoxygenated blood) is paramagnetic, causing it to appear on fMRI scans. So, these BOLD signaling studies can show where deoxyhemoglobin is present in the brain, which can be reasonably associated with oxyhemoglobin (oxygenated blood) and its deposition of oxygen in certain regions of the brain. Areas of the brain undergoing rapid repair (such as those that have experienced a mTBI) will need this oxygen. So, by using BOLD signal studies, we could determine a general recovery time associated with a certain level of mTBI experienced. This method is still in development because the association between deoxyhemoglobin and oxyhemoglobin isn’t as simple as I described above and this method is quite expensive.

The future of concussion recovery

By showing the severity of concussions to brain health, it is clear that more needs to be known about how concussion recovery occurs. Having a simply way to measure the pace of recovery, such as using ImPACT testing or fMRI BOLD signal studies, would greatly help. Perhaps there are other methods being developed like fMRI BOLD signal studies that give a more molecularly detailed description of recovery.

Figure 5: Artstract by Trenton Vogt. This figure depicts (very rudimentarily) how spatial memory can be impacted by a concussion.

How are animal models used for Autism studies

Autism is currently one of the most common neurodegenerative diseases, characterized by impairment in communication, social interaction, repetitive behavior, amongst many others. There is no clear notion of the real cause of the disease, however, various animal models has shown various genetic and environmental factors that contribute the autistic symptoms.

Researchers identified involved genes through understanding disruption of the PI3K/Akt/mTOR pathway and possible factors that may have lead to that.

Animal models are a large component of these findings by using rodents such as mice and rats. A large group of people is still against the idea of using animal models for science, which why this blog will be identifying the importance of using animal models, the ethics involved and the important findings they contributed to the understanding of autism diagnosis and treatment.

What to know about animal models:

basic science research

Poor animal care is not good science. There are established US federal laws that the use of non-human animals in research show the efficacy of new treatments.

Models: genetically modified mouse models for ASD-associated genes, were used to learn different facets of ASD at onset, hereditary, therapy, behavior, diagnosis and pathological level.

Challenges: difficulty to generate a mouse model showing all those characteristics, and the differences between mice and humans’ genome.

Example of Animal model for ASD:

For behavior symptoms:

Requires presence of at least six symptoms: two qualitative measures of social impairment, one communication impairment, one symptom for restricted and repetitive impairment.

Social behavior:

Mouse is placed in a open field with an inanimate object and non-familiar mouse and the tendency and time spent with either is measured. The sniffing and following and physical contact with either is measured by video tracker to assess social deficits in autism.

Genetic mutations:

Tuberosis sclerosis:  caused by mutations in the downstream targets of the P13K/Akt/mTOR pathway in the TSC1 or TSC2 genes. It is characterized by seizures, high intellectual impairment similarly seen in autism.

 

 

Screen Use & Autism

Kids with autism are seen to spend more time on screens than neurotypical kids which results in lower physical activity. Screen use may be related to poor academic and development performance, sleep problems, obesity, social behavior deficits, and attention problems. The AAP (American Academy of Pediatrics) advises caregivers to not expose children under the age of 2 years to any electronic device. Kids between the ages of 2 and 5 years old can be exposed to screens for one hour a day before displaying developmental factors described previously. (1)

Watching television at the age of 12 months can increase the chances of developing autistic symptoms at 2 years old. Early exposure can increase a child’s chances of autistic behavior by 2%. However, caregivers can decrease the chances by 8.9% from daily one on one play. (2)

Screens act as a stimulant equivalent to caffeine, amphetamines, or cocaine for children. Autistic kids are more vulnerable to addiction and negative impacts compared to neurotypical kids. Factors that cause the vulnerability include:

    • Low melatonin and sleep disturbance
      • Screen time causes a disturbance in circadian rhythms by suppressing melatonin. Melatonin regulates hormones, the immune system, and inflammation.
    • Arousal regulation issues
      • Autistic kids experience overstimulation with increased stress response and emotional dysregulation. Screen use can heighten these symptoms.
    • Inflammation of the nervous system
      • The combination of increased stress suppressed melatonin, and sleep disturbances cause inflammation within the nervous system.
    • Decreases healthy frontal lobe development
      • Reduces the connection of white matter and gray matter in the frontal lobe. This affects verbal competence, aggression, and cognitive abilities.
    • Social and communication deficits
      • Autistic kids experience difficulties identifying social cues like reading body language, having low empathy, and having trouble communicating with others. Screen use inhibits the development of these skills. One study found that screen use and background screens can delay language development.
    • Prone to anxiety
      • Screen use is positively correlated with the risk of developing OCD, social anxiety, high arousal, and diminished coping methods. The amygdala can be seen to change functions when exposed to screens which cause serotonin synthesis abnormalities.
    • Sensory and motor integration
      • Kids with autism are prone to have tics that can worsen due to dopamine release from watching screens.
    • Psychiatric disorders
      • Autistic kids are at higher risk of developing ADHD, tics, anxiety, mood disorders, and psychosis. Screen use is seen to increase the display of such disorders. Individuals with psychosis “may experience hallucinations, paranoia, dissociation, and loss of reality-testing” while actively using screens. (3)

Increased screen time is correlated with melanopsin-expressing neurons and decreasing GABA neurotransmitters which cause autistic-like behavior and decreased cognitive and language development. One study found:

    • kids who were exposed to screen for less than 3 hours per day had language delays and a short attention span.
    • kids who were exposed to screens for more than 3 hours per day had language delay, short attention span, and hyperactivity
      • This shows that any duration of screen exposure produces negative effects on children.

The light projected from screens is detected by retinal ganglion cells (RGCs) which signal the thalamic nuclei and visual cortex for image visual function. Melanopsin is used for non-image visual function. It can be found in the suprachiasmatic nucleus (SCN), ventrolateral preoptic area (VLPO), and limbic regions to help balance sleep patterns, cognitive function, and mood.

Neurotransmitter deficiency such as dopamine, acetylcholine, gamma-aminobutyric acid (GABA), and 5-hydroxytryptamine (5-HT) may cause a spectrum of autism. (4)

Neurotypical Brain ~ Brain with Early Onset ~ Autistic Brain

The structure of an autistic brain can be seen to be different compared to a neurotypical brain such as:

    • An enlarged hippocampus
    • They will have a larger amygdala early in life then a smaller amygdala with age compared to a neurotypical brain
    • Smaller tissue in the cerebellum
    • An enlarged head and brain which will shrink prematurely (before mid-20’s)
    • Excess cerebrospinal fluid (5)

Screen use can worsen these factors due to the topics discussed throughout this blog. In conclusion, screen use can heavily negatively impact children with and without autism.

Resources:

  1. https://www.frontiersin.org/articles/10.3389/fpsyt.2021.619994/full
  2. https://www.medpagetoday.com/neurology/autism/86051
  3. https://www.psychologytoday.com/us/blog/mental-wealth/201612/autism-and-screen-time-special-brains-special-risks
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849631/
  5. https://www.spectrumnews.org/news/brain-structure-changes-in-autism-explained/

 

 

Conversation on Autism

Autism spectrum disorder is a controversial topic in many different facets of society. It’s cause and pathology are greatly debated and unexplained in scientific circles. Socially it is depicted in popular media but not inclusively. Amongst teachers and para professionals the role of Autistic students in the classroom is constantly questioned. As we continue to see more cases arise in the United States and the world we are forced to take a look inward and explore the possible cause of this surge and how we are to deal with it.

It is best to start by explaining a little of the science. There is an emerging theory involving a certain signaling pathway in the brain and it’s involvement in the disorder. The PI3K/AKT pathways is fundamental in cell growth and survival. It is activated by growth factors in the brain and controlled through a couple mechanisms.

One key upstream down regulator is a gene named PTEN. A mutation in PTEN would result in an overactive PI3K pathway. This leads to an uncontrolled growth of cells. Until recently this dysfunction had only been examined in cancer cases. However, in autism cases we are beginning to see a common trend. Most autism patients show rapid growth during development of certain areas of the brain. White matter begins to form which is a result of these rapidly growing brains not receiving appropriate signaling and nutrition to survive. This explains the decrease in brain size as patients age into adulthood. Mutations in PTEN and other genes/Mechanisms that may lead to this gene don’t have a specific origin. It can be inherited or developed. There are many examples of the disorder being inherited and developed.

The pathology of Autism Spectrum Disorder is a hot topic but there are plenty others more passionate. Patients with the disorder can be high or low functioning, with differing degrees of many symptoms. The most common of these being social awkwardness, repetitiveness, seizures, and slow learning. This brings a debate to the classroom, should they learn separately from the rest of the students depending on the severity of symptoms? Is social interaction more important than an opportune learning environment? Also how are autistic patients portrayed in movies? Why does it seem to only portray the high functioning very intelligent individuals and neglect all the others?

It is an observable fact that Autism cases are on the rise and have been for the past decade. There are many possible explanations for this sudden increase and instead of one correct explanation it seems to be a case of death by a thousand cuts. As awareness and knowledge of the disorder increases there is a more likely diagnosis, both accurate and over-diagnosis. There are also links to increased screen time in developing stages of children and an increased likelihood of developing ASD. Humans also have more exposure to factors that cause genetic mutations. All of these and many more may explain the rise in cases.

In summary, Autism is a complex disorder which has no defined origin. How people with the disorder are treated and displayed in society is very controversial. However, we all share the common goal of finding a solution and helping those who have ASD live the best life possible.

 

Can you Sleep After Getting a Concussion?

Often when an individual experiences some sort of head trauma and receives a concussion from it they are told not to sleep. However, is this a true thing that we should not do? This idea of not sleeping after a concussion is a myth. In specific occasions this is important though. During a severe concussion that results in medical attention a medical care provider may want you to stay awake so that they can monitor symptoms that may occur after the fact. Symptoms that are not able to be monitored during sleep include dilated pupils to even slipping into a coma and/or death.

What are some symptoms an individual may experience after a concussion?

Individuals who experienced a concussion may have difficulty falling asleep or staying asleep. This results in altered sleep patterns during recovery. Prolonged and/or persistent sleep disturbances can affect the quality of life and result in other symptoms like depression, anxiety, and apathy.

Individuals with a concussion who have indicated difficulty falling asleep or staying asleep take 3-4 times longer to recover from the concussion vs. those who don’t experience these issues falling asleep. This could be a result of the brain not having adequate time to heal while the individual is asleep.

What are the benefits of sleeping after a concussion?

Sleep is beneficial after a concussion (given the individual is not experiencing symptoms that require medical attention). Proper sleep during recovery heals and resorts electrochemical balances in the brain. So, what exactly is it healing?

A team of Switzerland researchers found that restless deep sleep resulted in a visibly reduced learning efficiency. When an individual is awake synapses in the brain facilitate the passing of electrical impulse from one neuron to another. But during sleep, the activity of these synapses goes back to normal. Without this restorative period, they stay excited at their peak activity for too long. This interferes with the brain’s neuroplasticity. Neuroplasticity enables the brain to learn new skills, change and adapt to its environment stimuli, and ultimately learn new things.

Sleep can also alleviate the severity of symptoms like headaches and improves neurocognitive processes. After seeing that sleep aids in neuroplasticity, it makes sense to think that while sleeping different neurotransmitters are moving around the brain working and healing damaged areas that need to be fixed.

Is there a treatment that aids in sleep disturbance?

A treatment that has been shown to help with this is melatonin.
Individuals who experience sleep disturbances experienced greater help falling asleep and staying asleep with the use of melatonin. An individual with a concussion related to non-sport related concussion is more likely to have sleep disturbances compared to individuals with a sport-related concussion. This comes from the idea that a sport-related concussion is more severe and that there may be other factors such as post-traumatic stress.
Sleep is important for recovery of a concussion, but an individual may experience disturbances related to falling asleep and/or staying asleep. Therefore, quality of life regarding mental health is just as important to monitor during recovery time.

Savant Syndrome: Prodigious Talent in Autism

Characteristics of Savant Syndrome

Individuals with savant syndrome are characterized by remarkable abilities in specific categories, such as music, memory, or art. Although, some form of brain dysfunction, such as autism, is seen as well in savants. The most interesting aspect of savant syndrome is that the skill found in these individuals often highly exceeds their intellectual or developmental functioning (Hughes et al., 2018). Savant syndrome is seen most often in those who fall on the autistic spectrum. Around 1 in 10 autistic individuals show savant skill, while 50% of savants have some level of autism. Level of savant skill also displays a spectrum:

  • Splinter skills are those that include obsession with, and memorization of, various things such as numbers or trivia.
  • Talented savants display more prominent skills, usually in a single area of expertise. Although, these are usually not as remarkable as some, but still remain remarkable in comparison to disability.
  • Prodigious savants are those with beyond exceptional skill, whose abilities would be extraordinary even in a neurotypical individual.

These skills are also most often narrowed down to a specific set of categories:

  • Music (primarily piano, composition and perfect pitch)
  • Art (drawing, painting, or sculpting)
  • Calendar Calculating (ability to name any day or date of any year)
  • Mathematics (lightning calculation)
  • Mechanical or Spatial Skill (construct complex models, measure precise distances without a ruler) (Treffert, 2009)
Stephen Wiltshire – an autistic savant with the ability to draw a landscape from memory after seeing it just once

Figure 1

Along with this, such skills are always accompanied by a remarkable memory. Exquisite memory of savants often lies within the confines of their respective skill, but is very profound (Treffert, 2009).

Do All Savants Have Autism?

Although it is widely thought that savant syndrome arises solely from autistic individuals, this is not the case. Savant skills may appear in neurotypical individuals at any stage in life following brain injury or disease (Treffert, 2009). Most commonly, savant skills tend to arise after brain damage to the left hemisphere. It was proposed by Treffert (1989) that the right hemisphere exhibits compensatory effects after left hemisphere damage. This compensation may then result in reliance on procedural memory and display of obsessive behavior seen in savants (Heaton and Wallace, 2004). There have been several reports throughout history of individuals experiencing bouts of brain trauma, only to wake with newfound ability:

  • 1923 – extraordinary musical abilities in a three-year-old following meningitis
  • 1978 – Orlando Serrell exhibits remarkable calendar calculations after severe concussion
  • 1980 – outstanding mechanical skills in nine-year-old boy following bullet to left brain
  • 2010 – Jason Padgett becomes renowned mathematician after severe concussion

‘Acquired’ savants (those with savant skill obtained later in life through trauma) are much rarer than those born with such skill. Although, it has shown to be possible through a series of cases (Treffert, 2014). One of the most famous cases of savant syndrome is that of Kim Peek, popularized through the movie Rain Man (1988). Kim Peek was born without a corpus callosum, primarily resulting in remarkable enhancement of memory.

Image of transcranial direct-current stimulation (tDCS)

Finding the Inner Savant

Due to the ability of savant syndrome to arise later in one’s life, it has been questioned whether or not a neurotypical individual may be able to unleash their “inner savant.” One method has been used to quiet activity in the left hemisphere using noninvasive brain stimulation. This is due to previous research that decrease of

Figure 2

activity in the left hemisphere, and therefore an overactive right hemisphere, may result in savant-like skill. Transcranial magnetic stimulation (TMS) utilizes a powerful magnet to disrupt neuronal function in a specific region. TMS has shown enhance several skills in human such as art and music. Transcranial direct-current stimulation (tDCS) places a cathode and anode over the left and right hemispheres, respectively. This decreases the firing rate in the left hemisphere, while increasing it in the right. This increase in right hemisphere activity enhanced savant-like abilities in humans (Snyder, 2012). In regard to signaling, It has been shown that upregulation of the PI3K-Akt/mTOR signaling pathway is found in autistic patients, which is likewise for autistic savants (Sharma and Mehan, 2021). Although, it is unlikely that this pathway is the signaling mechanism involved in the rise of savant skill itself. It is questioned whether or not one must be born with the ability for savant-level skill, or if it can simply be acquired through right brain stimulation and molecular manipulation. Beyond what we know about savant syndrome, the molecular underlying of their remarkable talent is still yet to be discovered.

References

Hughes, J.E.A., Ward, J., Gruffydd, E. et al. Savant syndrome has a distinct psychological profile in autism. Molecular Autism 9, 53 (2018). https://doi.org/10.1186/s13229-018-0237-1

Treffert D. A. (2009). The savant syndrome: an extraordinary condition. A synopsis: past, present, future. Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences364 (1522), 1351–1357. https://doi.org/10.1098/rstb.2008.0326

Treffort D.A. (2014). Accidental Genius. Scientific American, 311 (2).

Sharma A, Mehan S. Targeting PI3K-AKT/mTOR signaling in the prevention of autism. Neurochemistry International. 2021;147:105067. doi:10.1016/j.neuint.2021.105067

Snyder, A.W., Ellwood, S., Chi, R.P. (2012). SWITCHING ON CREATIVITY. Scientific American Mind, 23 (5).

What is Autism: Development, Symptoms, and Possible Treatments

What is Autism? 

  • Autism (ASD, Autism Spectrum Disorder) is a neurodevelopmental, lifelong condition, with a broad range of conditions characterized by challenges faced by an individual. There are many social skills, repetitive behaviors, speech and nonverbal communication involved with autism. However, each person with autism is unique and may have better or worse skills. 
  • An ASD diagnosis now includes other conditions that used to be diagnosed separately, such as Asperger syndrome and pervasive developmental disorder 
  • Autism begins to develop during pregnancy and goes through the first few years of a child’s life. If proper nutrition is not available to the mothers during pregnancy, there is an increased risk of having a child with autism. Some nutrients such as zinc, vitamin D, and omega-3 fatty acids have been linked to neuropsychological symptoms. Low zinc has been linked to learning and cognitive impairments, while low vitamin D has been linked to less aid with brain function and axonal connectivity. During the first few years of life, there is abnormal overgrowth in the cerebral, cerebellar, and limbic structures. The overgrowth happens in regions associated with cognition, social and emotional functions, as well as language functions. This overgrowth is then followed by an abnormally slow or stunted growth.

PI3K/ AKT-(PKB)/ mTOR pathway:

  • Overactive PI3k/Akt/mTOR pathway in autism. See image to the right for pathway. 
  • The dysfunctional PI3K/Akt/mTOR pathway is involved in many processes that are related to the autism spectrum disorder. These include apoptosis, the deficit in social interaction, repetitive behavior, and hyperexcitability.

Symptoms of Autism:

  • It is important to understand that many individuals with autism do not experience all of these symptoms, or experience ones that are not listed. Also, individuals with autism who do experience many symptoms do not experience them the same way as others with autism. 
  • Symptoms of autism may include: 
  • Lack of social communication and interactions 
    • Avoids or cannot maintain eye contact
    • Lack of play, especially social play 
    • Lack of communication with peers 
    • Uses few or no gestures 
    • Difficulty understanding own feelings and the feelings of others
  • Restricted or repetitive behaviors or interests 
    • May repeat words or phrases 
    • Uses toys the same way 
    • Focused more on the parts of the object, rather than the object as a whole 
    • Certain routines must be followed daily 
    • Can flap hands, rock body, etc 
  • Other possible characteristics of Autism
    • Delayed language, cognitive, and movement skills 
    • Hyperactive, impulsive 
    • Unusual eating and sleeping patterns 
    • Anxiety and excessive worry about situations

Possible Treatments of Autism: 

  • Autism has no cure, but there are therapies that may help manage symptoms and allow individuals to be “higher functioning”
  • Therapies to help individuals:
    • Occupational therapy 
    • Speech therapy 
    • Pivotal response treatment (PRT)
    • Relationship development intervention (RDI)
  • Comorbidities that require medical treatment, not only therapies: 
    • Epilepsy
    • Gastrointestinal problems
    • Sleep disturbances
    • Attention-deficit/hyperactivity disorder
    • Anxiety/ Depression
    • Obsessive-compulsive disorder

Works Cited: 

Autism Speaks Inc. (2021). Treatments for autism. Autism Speaks. Retrieved November 8, 2021, from https://www.autismspeaks.org/treatments-autism.

Centers for Disease Control and Prevention. (2021, March 29). Signs and symptoms of autism spectrum disorders. Centers for Disease Control and Prevention. Retrieved November 8, 2021, from https://www.cdc.gov/ncbddd/autism/signs.html. 

Sharma, A., & Mehan, S. (2021). Targeting PI3K-AKT/mTOR signaling in the prevention of autism. The Journal of Cellular and Molecular Neuroscience.

The development of autism

Introduction to autism:

The number of children diagnosed with autism in the United States continues to rise. Many studies are being done to understand what is causing autism. Autism is a neurodevelopmental disorder that impacts various parts of the brain: hippocampus, cerebellum, amygdala, and cerebral cortex. Distinguishing characteristics can include atypical neuronal synapse development, neuroinflammation, and oxidative stress to cause many symptoms associated with autism. The atypical development of the aforementioned brain regions and distinguishing characteristics can give rise to trouble communicating, difficulty with memory and cognition, reoccurring behaviors, over-excitation, difficulty to maintain concentration, and sensory/motor deficits.

Pathway of interest:

One pathway of interest to better study autism is the PI3K-AKT/mTOR signaling pathway. In the typical PI3K-AKT/mTOR pathway, as depicted in Figure 1, a ligand will bind to a RTK (receptor tyrosine kinase) to activate PI3K, which is a kinase to activate other molecules downstream. PI3K functions to aid in axonal guidance, making PI3K pivotal in making connections within the brain. PI3K will then aid in the activation of AKT, another kinase. AKT functions in growth and development. AKT then activates mTOR. mTOR is responsible for autophagy, clearance of damaged organelles in the cell, and protein synthesis to allow cells to grow.

Figure 1: The PI3K-AKT/mTOR pathway by Yang J, Nie J, Ma X, Wei Y, Peng Y, and Wei X.

Gene mutations and autism:

The abnormal development of the brain that contributes to autism can occur from multiple malfunctions in the PI3K-AKT/mTOR signaling pathway. One potential contributor to dysregulation in the PI3K-AKT/mTOR pathway is a mutation in the gene that encodes PTEN, an inhibitor of PI3K, functioning to aid in cognition and concentration. When there is a mutation, PTEN fails to inhibit PI3K, so the neuronal pathway is overactivated. Another gene mutation can be traced to TSC1/TSC2, which typically works to inhibit mTOR, and is responsible for communication and motor control. Another gene of interest is DDIT4, which is another inhibitor of mTOR. A failure to inhibit downstream mTOR reduces a neuron’s ability to do autophagy, further reducing essential processes needed for neuronal survival.

What causes autism?

Some studies have found that maternal lifestyle and health status during pregnancy significantly impacts the likelihood of having a child with autism.

Diabetes:

Mothers with Type I, Type II, and gestational diabetes diagnosed before 26 weeks increased the likelihood of having a child with autism. Women with diabetes also have hyperglycemia, which can cause oxidative stress in the placental tissue and transfer to the cord blood. The oxidative stress can increase the likelihood of chronic inflammation and epigenetics (changes in gene expression) to the fetus. Also, diabetes in pregnant women generally cause increased inflammation in the uterus to increase fetal brain inflammation. Inflammatory cytokines can bind to TLRs (toll-like receptors), which aid in stimulated the already over-activated PI3K-AKT/mTOR pathway.  Furthermore, women with gestational diabetes have atypical placentas that are larger due to autophagy being inhibited, this is also seen in the fetus as the mass of brains later in life are greater.

Nutrition:

Maternal nutrition is essential to support a developing fetus, which is why vitamin and mineral intake is being investigated as a possible factor in the development of autism. Some studies have closely examined vitamin D. Vitamin D upregulates PTEN expression and DDIT4 expression to reduce the overall stimulation of the PI3K-AKT/mTOR pathway that could be responsible for autism. Researchers found that mutations in PTEN can be traced back to maternal vitamin D intake to show that mothers correlate higher vitamin D intakes with lower rates of offspring diagnosed with autism. Other studies found that autistic children benefited from the intake of vitamin D to reduce some symptoms, but the benefits to the child are limited based on what is going wrong in the PI3K-AKT/mTOR pathway. Low intakes of zinc and folate through pregnancy have also been seen to increase the likelihood of having a child with autism.

So what?

Autism rates in the United States are increasing, but many researchers have not found a specific way to prevent or treat autism. Autism further increases the likelihood of developing neurodegenerative diseases, such as Alzheimer’s disease and Parkinson’s disease. More research is needed to understand what causes atypical neurodevelopment and how symptoms can be treated to improve the current and future quality of life for many people.

Sources

  1. https://www.scientificamerican.com/article/the-real-reasons-autism-rates-are-up-in-the-u-s/
  2. https://www.sciencedirect.com/science/article/abs/pii/S0197018621001133
  3. https://molecular-cancer.biomedcentral.com/articles/10.1186/s12943-019-0954-x
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134431/
  5. https://www.mdpi.com/2075-4655/5/2/13/htm
  6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659068/
  7. https://jamanetwork.com/journals/jama/article-abstract/2247143

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