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Autism Spectrum Disorder (ASD)

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This article would be my 4th rendition in my cognitive impairment series. This particular topic is largely inspired by my own personal experiences with autistic patients when interning under consultant pediatrician, Dr kenneth lyen. 

 

From that thought provoking experience, I came to realize that even though i've heard the word “autism” more times than I can count in conversations, next to nothing about the actual biology of the disorder, what are its main symptoms or its different subtypes. Hence to to quell this intellectual curiosity, I have decided to write this article detailing everything I have researched and learnt so far about autism.

Autism background

Autism refers to a broad range of conditions characterized by challenges with social skills, repetitive behaviors, speech and non-verabl communication.

Biologically, it’s a neurodevelopmental disorder which affects the information processing in the brain and how nerve cells and their synapses connect and organize. 

It’s also important to understand that autism is not a singular disease with set parameters for symptoms and treatments. Personally, I think there is a need to disillusion the public about autism from the societal stereotype of a screaming uncontrollable kid, which I too was guilty of having prior to doing this research. In actuality, there are many subtypes of autism which cumulatively form the Autism Spectrum Disorder (ASD) which is the blanket term referring to all types of autistic disorders.

In this essay, I will only be going through the top 3 most common forms of autism in incremental severity.

Asperger's Syndrome (level 1 spectrum disorder)

This is perhaps the mildest form of autism which does not directly impact the cognitive intelligence of the individual in question. In fact they can be quite brilliant individuals who excel in abstract field such as mathematics or science. And actually while writing this section, I just found out that elon musk, you know richest man in the world, also has asperger's!

A child with Asperger’s will actually have an above average IQ, strong verbal skills for their age but will experience challenges in social communications and interactions with peers of the same age group. 

[signs and symptoms]:

  • Inflexibility in thought and behavior. The child will have difficulty interpreting non-literal language and sarcasm like “break a leg”

  • Challenges in switching between activities

  • Executive functioning problem

  • Flat monotone speech, inability to express feelings through speech and adjust pitch based on the environment. This manifests as bad social awareness.

  • Difficulty interacting with peers despite ability to hold a conversation with adults.

Pervasive development disorder

Its a mild type of autism that presents challenges for a child's social and language development. 

[common characteristics]:

  • Imparied social development and communication faculties

  • ‘Repetitive behavior:

    • Stereotyped behavior: hand flapping, head rolling and body rocking

    • Compulsive behavior: OCD-like attributes

    • Sameness: Resistance to change of all sorts such as moving furniture around or changes in daily routine

    • Self-injury: OCD behavior like skin picking or head banging.

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Kanner’s Syndrome (Severe autism)

This is the so-called stereotyped form of autism which most people would imagine. The child or individual in question will have all the symptoms of classical autism but to an extreme degree.

[signs and symptoms]:

  • Lack of emotional attachment to others

  • Communication and interaction challenges

  • Uncontrolled speech

  • Obsession with handling objects

  • A high degree of rote memory and visual spatial skills but major difficulties learning in other areas.

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So having established some knowledge of the variety in autism spectrum disorders, let us now take a look into their causes which will hopefully allow us to understand this disorder better.

As per my previous write-ups, I will be approaching this from a neural and genetic perspective to provide a more holistic understanding of the biology of autism. For completeness, I will also include an additional approach addressing the environmental risk factors which may increase the chances of a person developing ASD

Biology of autism

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Neuroanatomical explanation

As one might guess, ASD is a polygenic developmental neurobiologic disorder with multi-organ system involvement. It's a disorder of connectivity between the left and right brains, hence problems arise from processes that places high demand on information integration and coordination of multiple neural systems. There was also abnormal enlargement of certain regions of the brain like the amygdala and hippocampus. Studies using functional MRI (fMRI) have shown abnormalities in  brain regions associated with language, working memory and social cognition where the subjects in question displayed localized over-connectivity but inter-regional under connectivity.  Hence this may serve to explain why there are certain cognitive functions such as visual spatial awareness which ASD individuals have a better handle over other things like communication or executive function which often requires multiple areas of the brain to work concurrently.

Genetic explanation

Though it is unclear the specific genes which cause autism, there is strong evidence to suggest a genetic linkage of autism. Similar to OCD, Twin studies showed that 90% of the differences between autistic and non-autisitic individuals are due to genetic factors. In a study on monozygotic and dizygotic twins, monozygotic twins i.e. identical twins, showed 60% concordance for ASD while its 0% for dizygotic , non-identical, twins. 

Furthemore, family studies conducted showed that an individual predisposed risk to developing ASD is proportionate to the % of their genome which is shared with a relative with ASD. Hence similar to OCD, it can be reasonably concluded that ASD also has a genetic correlation and heritability. 

 

Environmental factors

  • Advanced age at time of conceptions (find out how much risk is increased)

  • Prenatal exposure to pollutants and radiation

  • Maternal obesity, diabetes and immune system disorders

  • Extreme prematurity and or low birth weight

  • Birth difficulty leading to periods of oxygen deprivation to the baby 

 

Having said that, let me also just quickly set the record straight that VACCINES DO NOT CAUSE AUTISM. There is no evidenced based research or scientifically legitimate studies which have backed the theory that vaccines cause autism.

Treatments of ASD

I'm fairly certain that if there ever had been a bonafide cure for autism, it would be all over the news. However, with most mental disorders, there is little that can be done to “cure” autism. However, this does not mean that those with autism cannot lead meaningful and fulfilling lives, in fact, there are several treatments for the symptoms of autism which will allow autisitc individuals to lead relatively normal lives.

The first would be behavioral and speech therapy to develop their social skills to facilitate their integration into society. Medications can also be prescribed to individuals to manage certain symptoms of autism such as ADHD. Though only in its early stages of development, Deep brain stimulation (DBS) is currently being researched for its effectiveness against severe forms of autism.

Theory of compensation

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Having covered most of the bases for autism, let us take a more detailed look into one specific form of autism which has caught my attention. Savant’s syndrome, or as I would like to call it, the “genius disorder”. 

Taking inspiration from the movies “a beautiful mind” detailing the life of nobel laureate John Nash and “X + Y” , I have noticed that a significant portion of mainstream media portray “geniuses” or those with exceptional talents to be lacking in social awareness or introverted. 

 

This plays off what's known as the theory of compensation (TOC) which states how individuals would either consciously or unconsciously, compensate and “cover up” their weaknesses by excellence in another department. A good analogy would be sight and hearing. It's often been said that a person who was born blind has a more acute sense of hearing as a means to compensate for the loss of one of their senses. The same would apply for cognitive faculties. More often than not, “child prodigies” or “gifted” individuals have been portrayed in movies or shows as exhibiting mild forms of autism.

Savant’s Syndrome is a rare condition which dictates that someone who has significant mental disabilities will demonstrate certain other abilities far in excess of average such as rapid calculation, artistic ability or musical inclination. 

 

Referencing an article written by Dr Kenneth Lyen on “maps of singapore” he wrote of a autistic british artist called Stephen Wiltshire who, after just one helicopter ride over singapore, was able to draw the panorama of Singapore’s seafront skyline from memory. 

 

So who knows, perhaps we are looking at this the wrong way. Societal stereotypes and cultural expectations have painted mental disorders as a disease which needs to be treated. But I can't help but wonder if we are simply being overly critical about ASD. In fact, research has found that there was a higher incidence rate of autism in children with highly intelligent parents. So who knows? Perhaps autism is simply a form a biological intelligence inherited from parents.

Empathizing Systemizing (ES) Theory

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Falling down the rabbit whole of researching ASD. I came to question if ASD differentiates based on gender. And to my surprise, it does, with ASD being more prevalent in males and females. 

ES theory suggests that differences in empathic and systematic thinking may be cause for the divergence in ASD incidence between males and females. When scaled, females were found to score higher on short forms of empathy and sensory perception quotients while males scored higher on the systemizing quotient. This indicates a neutral sexual dimorphism which is representative of the generalize stereotyped way of thinking in males and female. Males being more systematic and methodical while females being more receptive and compassionate. Incidentally, based on the “extreme male brain theory”, autistic people exhibited a shift towards a more masculinized brain, scoring higher on the systemizing quotient. Hence this puts forth the conjecture that ASD is a masculine disposition where one's way of thinking becomes too skewarded towards the masculine side of systemizing whilst lacking in the femine side empathizing. So why is that? Why are male brains more system oriented while female brains more empathetic oriented?

 

Well, from an evolutionary standpoint, this neutral dimorphism may have been beneficial for our ancestors. A brain that is better at systemized thinking in males may improve their hunting skills or tool making etc while a brain better at empathetic thinking in females may improve their ability to care for their children.

An Empathetic view of autism

Shifting gears, I would like to take the time in this last section of this article to address the impacts of raising an autistic child as well as public perception or reactions to autism. As mentioned in the beginning of this article, when imagining a child with autism, the majority of us, myself included, will default to the imagery of a screaming uncontrollable child. However this public perception may end up being distressing for parents of a child with autism or another other mental disorder. There is a certain stigma which floats around people's conversations when talking about mental disorders, almost making it seem like an infectious disease. However, after writing this article and actually learning about the different forms of autism and other mental disorders, I have come to realize that people with autism are no less "human" then the rest of us. Though the methods which they use to convey their thoughts and emotions may be considered non-standard from a societal standpoint, their thoughts and emotions are inherently no less human then the rest of ours. So the next time you hear a child throwing a fit or screaming, take a step back to consider the emotions of the child as well as the parent or caregiver involved. While it's normal for one to react by staring, this can cause the parents to feel even more embarrassed. Respect and understanding from people towards individuals with special needs children go a long way.

References

  1. Autism spectrum disorder: Complexity and types. Butlr Health. (n.d.). Retrieved February 18, 2022, from https://www.butlrhealth.com/blog/autism-spectrum-disorder-complexity-and-types

  2. Autism: Empathizing-systemizing cognitive styles. Best Practice Autism. (n.d.). Retrieved February 18, 2022, from https://bestpracticeautism.blogspot.com/2020/12/empathizing-systemizing-e-s-theory-in.html

  3. Guardian News and Media. (2020, October 19). 'at 47, I discovered I am autistic – suddenly so many things made sense'. The Guardian. Retrieved February 18, 2022, from https://www.theguardian.com/lifeandstyle/2020/oct/20/at-47-i-discovered-i-am-autistic-suddenly-so-many-things-made-sense

  4. Mayo Foundation for Medical Education and Research. (2018, January 6). Autism spectrum disorder. Mayo Clinic. Retrieved February 18, 2022, from https://www.mayoclinic.org/diseases-conditions/autism-spectrum-disorder/symptoms-causes/syc-20352928

  5. Melinda. (2022, February 8). Autism spectrum disorders. HelpGuide.org. Retrieved February 18, 2022, from https://www.helpguide.org/articles/autism-learning-disabilities/autism-spectrum-disorders.htm#:~:text=The%20three%20most%20common%20forms,in%20their%20severity%20and%20impact.

  6. Personal history of autism. website. (n.d.). Retrieved February 18, 2022, from https://kenlyen.wixsite.com/website/personal-history-of-autism

  7. Rudy, L. J. (2022, February 12). Discover why PDD-NOS disappeared from the Diagnostic manual. Verywell Health. Retrieved February 18, 2022, from https://www.verywellhealth.com/what-is-pddnos-260587

  8. Savant syndrome: SSM Health Treffert Center. SSM Health Treffert Center | SSM Health. (n.d.). Retrieved February 18, 2022, from https://www.ssmhealth.com/treffert-center/conditions-treatments/savant-syndrome

  9. State, M. W., & Šestan, N. (2012, September 14). Neuroscience. the emerging biology of Autism Spectrum Disorders. Science (New York, N.Y.). Retrieved February 18, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3657753/

  10. What are the 5 types of autism? Integrity Inc. (2021, March 9). Retrieved February 18, 2022, from https://www.integrityinc.org/what-are-the-5-types-of-autism/

  11. What is autism? Autism Speaks. (n.d.). Retrieved February 18, 2022, from https://www.autismspeaks.org/what-autism

  12. Wikimedia Foundation. (2022, February 12). Autism. Wikipedia. Retrieved February 18, 2022, from https://en.wikipedia.org/wiki/Autism#Characteristics

  13. Wikimedia Foundation. (2022, February 16). Autism spectrum. Wikipedia. Retrieved February 18, 2022, from https://en.wikipedia.org/wiki/Autism_spectrum

  14. YouTube. (2019, February 18). What is autism (part 1)? | written by autistic person. YouTube. Retrieved February 18, 2022, from https://www.youtube.com/watch?v=JPO-uOPK5RI

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