Escape From Reality: A Brief Introduction into Autism and its Impact on Society

“Escape From Reality”

A brief introduction into autism and its impact on society

-by Dominic Vita (Co-Founder/Producer of Biolitics)

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It has been nearly 75 years since Leo Kanner first reported on the condition we now know as autism in a case study of 11 children1. He described the condition as differing “markedly and uniquely from anything reported” meriting a “detailed consideration of its fascinating peculiarities.” In the short time since Kanner’s initial observations the prevalence of individuals on the autism spectrum has not just increased, but exploded and continues to rise. According to the Center for Disease Control, the number of children falling within the spectrum has increased in 2000 from 1 in 150 to 1 in 68 in 20102. If you think about it for a moment that means in almost any public setting it’s likely there will be an autistic individual. Furthermore, the economic cost is estimated at a staggering $60.9 billion3. It goes without saying that autism and related disorders should not only be the focus of researchers and physicians, but also brought to the attention of the general public. It is this individual’s hope that by the end of this article you will have both a greater understanding the disease and the importance of combating it with full force. (Image credit goes to Dominic Vita)

 

Autism, the word brings to mind children struggling to exist in common society. However, the word was not always thought of in this way. Its first association with the disease was made by Kanner in his initial publication Autistic Disturbances of Effective Contact. The disorder was originally thought to arise via children attempting to escape their reality of a distant mother. Although environmental factors have been proposed as a possible cause, we now understand that negligence is not the reason.

 

But whunnamedat exactly is autism, what causes it, and more still why has it become so increasingly prevalent among children? To answer these questions it’s important to first understand that autism is not simply a single disease, but a multitude of disorders with similar, yet varying degrees of impairment. It is more appropriate to think of it as a spectrum, with affected individuals falling somewhere within it. Indeed in the medical and scientific communities it is known as autism spectrum disorders, or ASD for short. Children with the disease share core symptoms including difficulty with social interaction and communication, cognitive impairments and intellectual disabilities, as well as repetitive patterns of behavior2. Those affected present delays in development and often are diagnosed as a result of not meeting certain developmental milestone.

 

What of the causes then? It may seem surprising that several decades of research and study have not yet produced a cure, but one must remember that autism is a spectrum. As a scientist who studies a form of autism (fragile x syndrome), I can attest for the daunting task of unraveling the mechanisms that manifest the disease. As a result of numerous forms of autism, several schools of thought have arisen producing mountains of data supporting different ideas. However, vaccines have not been shown to induce Autism4. Genetics, one the other hand, is a common theme and one in which I myself subscribe to. Tuberous sclerosis complex (TSC) and fragile x syndrome, for example, both arise from genetic abnormalities5. Removal of certain genes such as that encoding fragile x mental retardation protein (FMRP) lead to a host of dramatic cellular and molecular complications6. Such downstream effects are believed to lead to improper circuit formation in the developing brain6. A study by Tessier and Broadie in 20087 revealed that genetic removal of FMRP leads to inappropriate neural development. TCS, on the other hand, involves mutations in other genes5. In just these two forms we already begin to see just how varied the genetic causes can be, and this becomes even more complex as we investigate genetic abnormalities in other types5. Despite the numerous genes that have been identified in this disorder, ASD secondary to genetic abnormalities actually make up the minority of the disease8.

 

The immune system has also been implicated in ASD. Maternal infection during pregnancy has been proposed to increase the risk of the disease. A study by Altadottir et al (2010)9 revealed that mothers admitted to hospitals with viral or bacteria infections during pregnancy were associated with autism diagnosis in their children. Autoimmunity, the body’s immune system attacking itself, is yet another probable cause. The recent case study analysis by Chen et al (2016)10 uncovered that mothers who developed an autoimmune disorder during pregnancy increased the risk of children born with autism. Such variation in causes continues to complicate our understanding and impedes the holy grail of finding a definitive treatment. And yet, the list of possibilities continues.

 

Further down the rabbit hole, we reveal even more ways in which autism can arise. Our microbiota, or the resident bacteria and other microorganisms living within you, can affect your neural development11. We all have within us what scientists like to refer to as the “gut-brain axis.” That’s right; those little buggies inside your intestines can affect your brain, immune system, and even gene expression. The trifecta of all that has been discussed thus far. In 2013 Hsiao et al12 showed in a mouse model of autism there existed a disruption in the typical microflaura in combination with an impaired gastro intestinal barrier, which the authors suggest could lead to ASD symptoms. Such changes in your microbial communities were suggested to be the result of infection during pregnancy. And the list can go on, discussing various other genes and environmental factors.

 

Clearly numerous initial causes of the disorder are evident, yet how can such vastly different components all lead to the same disorder? Should we even be lumping all these into the same category? Or is divide and conquer a better strategy? As a result, the quest for the answers has begun to change shape. It is my personal belief, as well as others6, that a shared downstream effect must exist within the spectrum. A specific defect in how our neurons are communicating with one another, a miscommunication that brings about the unusual behaviors we see. But that is for another article, when we can dive deeper into the unknown.

 

Let us return then, to the beginning of our discussion, the increasing prevalence of ASD. Why is this occurring? Pop culture might try and tell you it’s due to gluten, vaccines, or even fluoride in drinking water. These are unlikely to be the case, but why then? In short, we don’t truly know. It is debated even amongst researchers and physicians alike. It’s not clear if the rise we perceive is real, or if it is the result of a greater understanding of the disease and our ability to recognize it. With evidence supporting both notions the debate can get quite heated8. Although we are not aware yet of the truth behind this apparent increase in reported ASD, one thing is certain autism is very real. With 1 in 68 children being diagnosed growing up to become 1 in 68 adults, the need to figure out this disorder has never been more necessary.

 

Works Cited

  1. Kanner, L. Autistic Disturbances of Affective Contact. Pathology (1943) p 217-250.
  2. Baio, J. Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years – Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2010. Surveillance Summaries (2014) 63:SS02;1-21.
  3. Lavelle, TA. Weinstein, MC. Newhouse, JP. Munir, K. Kuhlthau, KA. Prosser, LA. Economic Burden of Childhood Autism Spectrum Disorders. Pediatrics (2014) 133:3.
  4. Gadad, BS. Li, W. Yazdani, U. Grady, S. Johnson. T. Hammond, J. et al. Administration of Thimerosal-Containing Vaccines to Infant Rhesus Macaques does not Result in Autism-Like Behavior or Neuropathology. PNAS (2015) 112:40; 12498-12503.
  5. Zafeiriou DI, Ververi A, Dafoulis V, Kalyva E, Vargiami E. Autism Spectrum Disorders: The Quest for Genetic Syndromes. Am J Med Genet Part B (2013) 162B:327–366.
  6. Doll, C. and Broadie, K. Imapired Activity-Dependent Neural Circuit Assembly and Refinement in Autism Spectrum Disorder Genetic Models. Front Cell Neurosci (2014) 7: 8-30.
  7. Tessier, CR . and Broadie, K. Drosophila Fragile X Mental Retardation Protein Developmentally Regulates Activity-Dependent Axon Pruning. Development (2008) 135(8):1547-57.
  8. Matelski, L. Van de Water, J. Risk Factors in Autism: Thinking Outside the Brain. Journal of Autoimmunity (2015).
  9. Altadottir, HO. Thorsen, P. Ostergaard, L. Schendel, DE. Lemcke, S. Abdallah, M. Parner, ET. Maternal Infection Requiring Hospitalization During Pregnancy and Autism Spectrum Disorders. Journal of Autism and Developmental Disorders (2010) 40(12):1423-30.
  10. Chen, SW. Zhong, XS. Jiang, LN, Zheng, XY. Xiong, YQ. Ma, SJ. et al. Maternal Atuoimmune Diseases and the Risk of Autism Spectrum Disorders in Offspring: A Systematic Review and Meta-Analysis. Brain Res. (2016) 296:61-69.
  11. Mangiola, F. Ianiro, G. Franceschi, F. Fagiuoli, S. Gasbarrini, G. Gasbarrini, A. Gut Microbiota and Mood Disorders. World J, Gastroenterol. (2016) 22(1):361-368.
  12. Hsiao, EY. McBride, SW. Hsien, S. Sharon, G. Hyde, RE. et al. Microbiota Modulate Behavior and Physiological Abnormalities Associated with Neurodevelopmental Disorders. Cell (2013) 155(7):1451-63.

 

 

 

 

 

 

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