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

A psych student tries to explain PTEN and TSC1/2 mutations

Autism symptoms

Artstract by Alex Braun
Artstract by Alex Braun

Autism spectrum disorder is a developmental disability that can cause significant social, communication and behavioral challenges. The learning, thinking, and problem-solving abilities of people with ASD can range from gifted to severely challenged. Some people with ASD need a lot of help in their daily lives while others need less or no help at all. People with ASD might repeat certain behaviors and might not want change in their daily activities. Many people with ASD also have different ways of learning, paying attention, or reacting to things. (CDC et al., 2021). This all comes from the spectrum aspect of ASD; there is such a wide variety of different types of autism. ASD is caused by genetic and environmental influences, but I will be focusing more on the genetic mutations causing ASD, specifically, in the PI3K-AKT/mTOR pathway.

 

PTEN’s role in the mTOR pathway

 

PTEN is a lipid and protein phosphatase that regulates cell growth and survival. In PTENS role as a lipid phosphatase, PTEN catalyzes the removal of the 3-phosphate from PIP3, generating PIP2 and directly antagonizing the activity of the class I PI3K. This process leads to multiple cell functions including, growth, survival, gene transcription, protein translation, cytoskeletal organization, and membrane trafficking (Skelton et al., 2019).

PTEN gene mutation

Neuronal PTEN signaling at the soma and synapse.

The PTEN protein is part of a signaling network that contains multiple ASD-associated gene products and represents a potentially common etiological mechanism for ASD and related neurodevelopmental disorders. PTEN acts as a lipid phosphatase which inhibits AKT activation by immediately inhibiting PI3K activity (Skelton et al., 2019). Mutation in PTEN causes mTORC1 hyperactivation (Sharma et al., 2021). This upregulation is associated with axonal dysregulation, megalocephaly, alteration of neuron size, protein synthesis, cerebral cell proliferation, and neuronal circuit connectivity between different brain regions.

 

TSC1/2 gene mutation

 

TSC1 dimerizing the signaling of mTOR

TSC is an autosomal dominant hamartomatosis with multisystem involvement in the body. TSC proteins play an important role in transmitting signals from a wide range of cell pathways that inhibit the mTORC1. mTORC1 was identified as long-term neurotransmission that regulates memory and incorporates signals from multiple neural surface receptor sites. This leads to increased mTORC1 activity due to loss of TSC1 and TSC2. This increased activity appears to be what leads to autism (Sharma et al., 2021). TSC is caused by a mutation in the TSC1 or TSC2 gene (Guo et al., 2012). TSC is a high-risk co-morbid disorder of autism spectrum disorder where the mutation of TSC1 or TSC2 dimerizes the signaling of mTOR with a negative effect (Sharma et al., 2021).

 

 

 

Works Cited

Centers for Disease Control and Prevention. (2020, March 25). What is autism spectrum disorder? Centers for Disease Control and Prevention. Retrieved from https://www.cdc.gov/ncbddd/autism/facts.html.

 

Guo, X., Tu, W.-J., & Shi, X.-D. (2012, September). Tuberous sclerosis complex in autism. Iranian journal of pediatrics. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3564100/.

 

Sharma, A., & Mehan, S. (2021). Targeting PI3K-AKT/mtor signaling in the prevention of autism. Neurochemistry International, 147, 105067. https://doi.org/10.1016/j.neuint.2021.105067

 

Skelton, P. D., Stan, R. V., & Luikart, B. W. (2019). The role of PTEN in Neurodevelopment. Molecular Neuropsychiatry, 5(1), 60–71. https://doi.org/10.1159/000504782

ASD causes sensory processing dysfunction

The Basics 

Figure 1

Autism spectrum disorder (ASD) is a developmental disorder that causes slight to significant social, communication, and behavioral challenges. Individuals with ASD are just like you and I but they have troubles interacting and communicating with others, behaving in accordance with social norms, and learning information and skills. There is no medical test to diagnose ASD, instead the doctor must look at the individual’s behavior and development. ASD can be detected 18 months or younger and by age 2 an autism diagnosis is very reliable for a child.

Treatment

There is no cure for ASD, but early intervention treatment services can improve a child’s development and aid them in leading a successful life. These services include, physical therapy, speech therapy, education to help the child learn life skills, and more. Some ASD individuals may be prescribed a medication to treat symptoms common to the diagnosis such as aggression, hyperactivity, anxiety, attention problems, and attention problems.

Causes

The causes of ASD are not well cataloged, however, researchers believe there are likely many causes for ASD. An example of a possible biological factor is the mother taking the prescription drugs valproic acid or thalidomide. Genetic factors include having a sibling with ASD, chromosomal conditions, or genetic defects in certain genes, and children born to older parents are at a greater risk for having ASD.

Those Affected

Figure 2: https://www.autismspeaks.org/press-release/cdc-estimate-autism-prevalence-increases-nearly-10-percent-1-54-children-us

ASD occurs in all racial, ethnic, and socioeconomic groups. Males are four times more likely to have autism compared to females. In 2020, the CDC reported that approximately 1 in 54 children in the U.S. were diagnosed with ASD as seen in figure 2. Most children are diagnosed after the age of four. 31% of children with ASD have an intellectual disability, characterized has an IQ of less than 70. There is not one type of autism, but many.

Sensory Processing in ASD

Many children with ASD have trouble sensory processing.

Studies

Previous research has showed that 45-95% of  ASD individuals have atypical sensory processing including aversions to taste, smell, colors, sound, and/or texture. Parents and clinicians of ASD children frequently report the child being overly selective in their eating patterns. A study conducted at the Journal of Autism and Developmental Disorders, expanded on the food sensitivity of ASD children. Their data found that 66%  of ASD diagnosed children were atypical based on their oral sensory oversensitivity scores. They concluded that children with ASD are more likely than typically developing children to score in the atypical range for both oral sensory sensitivity and oral sensory oversensitivity.

Another study with researchers Crane, Goddard, and Pring, used the Adult/Adolescent Sensory profile to assess sensory processing in a sample of ASD individuals. The results showed 94.4% of the ASD sample reported extreme levels of sensory processing on at least one sensory quadrant of the assessment.

Why? 

There is no definite reason to why persons diagnosed with ASD have sensory processing dysfunctions, but it increasingly clear that it is a key symptom of the disorder. However, research is actively searching the answer.

Figure 2: An arstract by Alison Amundson depicting a brain in dire need for the inhibitory signals produced by GABA as it is being bombarded by environmental stimuli.

GABA

GABA is the main inhibitory neurotransmitter in the human brain and plays a key role in touch. Studies have found that children with ASD show reduced levels of GABA, specifically in the sensorimotor areas of the brain. Lower GABA levels were associate with less “filtering” of touch information during the study. Thus, decreased GABA levels could be connected to the impaired tactile processing of ASD children. Another study found that self-reported hypersensitivity correlated with reduced GABA levels in brain areas processing touch. This information gives evidence that the neurotransmitter GABA may play a role in the processing dysfunction of ASD.

Importance

Figure 4

While, we may not be certain on the cause of Autism Spectrum Disorder we can be certain that this disorder warrants a lot of empathy. In the featured image, you see a bear at a table with all the receptors of his senses: photo, mechano, thermo, noci, chemo, and auditory. However, you cannot even see the table because of the amount of things these receptors are recognizing. This is what the brain of an ASD individual may look like when their senses are overloaded and they do not have the capabilities to shut any off. If this were you, you would probably showcase some of the behaviors typical of ASD, like rocking, spinning, irritability, anxiety, fear, etc. A typically developing individual will have a table like Figure 3, with receptors being calm and orderly. Be grateful if your table looks like this and be empathetic to those with a little more caos.

References:

https://reflectionsofabear.com/2015/09/14/warning-warning-sensory-overload/

10.1002/aur.1691

https://doi.org/10.1177/1362361309103794

http://10.1007/s10803-017-3340-9

https://www.autismspeaks.org/press-release/cdc-estimate-autism-prevalence-increases-nearly-10-percent-1-54-children-us

Neurobiological Characteristics of Autism Spectrum Disorder

     Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by neurobiological abnormalities, impaired social skills, repetitive behaviors, and difficulty empathizing with the feelings of others. There is no definitive neurobiological difference that is an indication of ASD, but many areas of the brain have been identified to contribute to the symptoms of ASD.

 

Cerebral Cortex

     Those with ASD tend to have an overgrowth in the cerebral cortex. This increased volume has effects on the geometry of the brain. All structures in the brain can be affected by an enlarged cerebral cortex because they will have to move to accommodate for the increased volume. Those with ASD can have abnormalities in the folding patterns of the cortical area. Studies have found that the gyri of the frontal cortex in children and adolescents with ASD are significantly enlarged.  The frontal cortex is responsible for managing attention, understanding the feelings of other people, speech and language production, and forming one’s personality. Abnormalities in the frontal cortex associated provide one explanation for the symptoms that are characteristics of ASD.

 

Cerebellum

The cerebellum of those with ASD has a reduced number of Purkinje cells. Post mortem studies of autistic brains also show an increase in glial cells, reductions of cerebellar nuclei and overall mass, as well as an active inflammatory process within the cerebellum. The decreased number of nuclei within the cerebellum leads to abnormal connectivity with other key areas of the brain. Cognitive deficits, difficulty planning, and impaired working memory are observed in subjects with developmental decreases in the volume of their cerebellum. This video provides interesting information regarding the loss of Purkinje cells and cognitive impairments that are characteristic of ASD. 

The cerebellum is also important for fine motor movements, coordination, and balance. Infants with ASD develop basic motor skills later in life than a neurotypical child. Those with ASD often have repetitive hand movements, impaired gait, and slow manual dexterity. The loss of Purkinje cells is one cause of the motor deficits associated with ASD. The cerebellum sends signals to the prefrontal cortex and cortical motor regions; a loss of cells in the cerebellum leads to a loss of connectivity, signal transduction, and activation in key brain regions. 

 

Hippocampus

Those with ASD tend to have a larger hippocampus than those who are neurotypical. A study found that young male children with ASD had a 9% larger hippocampal mass compared to the control subjects. Researchers hypothesized this is due to an increased density of interneurons. Although this hippocampus is typically enlarged in those with ASD, another study found that there is a loss of GABAergic neurons in this area. En2 is a gene linked with ASD and mice with this gene knocked out display typical behaviors associated with ASD. Researchers hypothesized that mice with a double En2 (En2-/-) knockout would have defective GABAergic innervation in the hippocampus. 

Results from this study support the researchers’ hypothesis. Mice with the En2-/- phenotype had a reduced number of GABAergic mRNA markers in the hippocampus and cerebral cortex. Abnormalities of the GABAergic neurons within the hippocampus can lead to an unbalanced excitation/inhibition ratio. Loss of these neurons has been shown to lead to impaired maturation of the cerebral and visual cortex. Dysfunction in one area of the brain is rarely isolated to just that area: the brain is the communication center of the body and any deviation from a homeostatic environment can lead to impairments throughout the entirety of the brain.

Inherited Genetics Regarding Autism

What is Autism?

Autism is a developmental disability typically affecting communication and social interaction. Symptoms are usually apparent in the first three years of life. Autism is considered a “spectrum disorder.” This means its symptoms vary from person to person and ranges from mild to severe. There is no given set of characteristics that applies to all individuals with autism. It affects a person’s brain function in differing ways and at varying degrees. Thus, each individual affected with autism is unique in his or her own way. There is no single cause associated with autism; however, research indicates biological or neurological differences in the brain. It is five times more prevalent in males than in females but is not limited to any race, ethnicity, or socio-economic background.

Diagnostic and Statistical Manual of Mental Disorders V Classification of Autism

According to the DSM 5, the term Autism Spectrum Disorders (ASD) is a single umbrella term that encompasses the following subtypes:
-Autism,
-Asperger’s Syndrome (ASP),
-Childhood Disintegrative Disorder(CDD)
-Pervasive Developmental Disorder-Not otherwise specified (PDD-NOS)

It also emphasizes that individuals with ASD must possess symptoms from early childhood even though they may not become apparent until later in life. These diagnostic labels are based on the commonalities and the distinctiveness of the symptoms in each type of ASD. The defining symptom of ASD is substantial deficit in the area of social relations and communication. Asperger’s Syndrome is mostly considered to be a mild form of ASD, and it’s considered to be at the high functioning end of the spectrum. PDD-NOS is commonly used for those individuals that do not fully meet the criteria for ASD or Asperger’s Syndrome. CDD differs from autism in its occurrence as it develops in children with normal development that later start regressing. The ease with which an autistic child learns to socialize depends greatly on his or her communication skills. Parents, teachers, siblings as well as peers play a very important role in fostering life skills required for developing social skills.

Learning with Autism

Teaching social skills one-on-one may not be very effective unless interactions are linked with normal peers. Thus, a natural learning environment plays a pivotal role in nurturing social development in children with autism. At school, they should be encouraged to interact with other students mostly during recess, lunch time, or during special activities such as sports, arts, or drama/music. At home, parents and siblings can work together to provide an autistic child with opportunities for positive social interactions.

What Causes Autism

Though there are many different factors that could contribute to autism such as environment, problems during development, and illnesses females may experience during gestation, genetics is going to be mostly focused on here.

Mothers who contain gene variants of ASD are more likely to pass this onto their children. Females are less likely to present signs of ASD and to be a carrier of it. They can carry the same genetic risk factors without the signs of it but if they were to have a male child then that individual is more likely to be diagnosed with ASD after birth. The gene that is most commonly known to cause autism or autism spectrum disorder is fragile X syndromeAll males carry an X and a Y chromosome, and receive the X from their mothers. Females carry two X chromosomes, receiving one from each parent. Hence girls can inherit fragile X from either parent, while boys inherit it only from their mothers. Females are protected from fragile X syndrome to a degree because they have two X chromosomes. Because one of their X chromosomes is most likely to be normal, the effect of the abnormal one is less pronounced, and they usually have milder problems than males, with only 30 percent having intellectual disability and the rest having emotional or learning problems.

 

 

Spam prevention powered by Akismet