ASD and I/DD

Autism Spectrum Disorder [ASD] and Intellectual/Developmental Disabilities [I/DD ] explored from the biological perspective of  multicellular organisms originating both evolutionary and embryologically from a unitary eukaryotic cell.  As a group ASD&I/DD are characterized by expressly divergent individuals who genetically however are not generally distinguishable from the summarily genome of human population.  The process of ecogenetic adaptations that cellular organisms select during a self-constructing process of incubation and growth will be explained along with the importance of divergent population to evolution of human species.  

We begin with Biometrical approach. Let us explore what is characteristic to autism from purely physiological perspective.  Both the population statistics and DSM diagnostics point to sensitivity and tolerance at varying levels – two very important qualities of an organism that are observable and measurable to certain degree. 

Let us first examine the aspect of sensitivity. It appears that autism correlates with heightened sensitivity to all the basic types of sensory stimuli – the minute dosages of chemical substances, the faint variations of pressure waves including sound, the various electro-magnetic radiations, including reportedly the variations of bio-aura that science is beginning to detect with very fine instrumentation, and it includes both the kinetic and electromagnetic fields.  

What is important to note is that this heightened sensitivity is not due to diverging physiology of some specific organs [there is no differentiation there] – but as it is naturally and evolutionary to be expected this heightened sensitivity is imbedded in every cell of the body.  Every tiny part of our bodies reacts to external pressure – every cell reacts to cold, heat, chemicals, sound and pressure waves, light and other electromagnetic waves, and any other universal force that surrounds us. When cells of the body adapt heightened sensitivity, the heightened sensitivity of each cell adds up in a multicellular organism to an abundance of warnings and an avalanche of information  generally resulting in heightened sensitivity of the overall organism, while the sensory organs do not exhibit any physical variation from the norm.  The heightened sensitivity of the organism originates and exists on a unicellular level! 

We should note at this point that this increased sensitivity would in a multicellular organisms translate into increased flows of information prompting it to evolve ways to handle it in order to survive. But first let us explore our cellular foundations. We are an eukaryotic organism, and we are made from eukaryotic cells, beginning [at conception] with a single eukaryotic cell which replicates itself according to it’s inherited knowledge to create other cells which in turn migrate and replicate in amazing coordination with each other to create most complex organism, such as we are.   The Eukaryotic cell in itself is the most complex single-cellular organism we have discovered so far. The path each individual multicellular organism takes to grow itself into a complex form follows the same path that evolution took to produce this complex organism from a single eukaryotic cell – step by step. Embryological development reenacts every mutation of the evolution that existed in the lineage of each specimen, and this process continues during the post-embryonic development.

As regards an eukaryotic cell – it is by degrees more complex than a bacterial cell and is believed to be a symbiotic organism evolving from a symbiosis of different molecules and organisms and surviving through complex symbiotic relationships with the outside world.  It is a self replicating cell that developed a method of sexual reproduction, which the higher organisms still continue to employ to this day – effectively the sexual reproduction [for most organisms] is a symbiosis of two parental [haploid] unicells into a diploid cell [zygote] which self-constructs itself into a new being of parentally expected species. Sometimes it is not what expected – a so called variation and we will examine this path as we go – but first let us visit some other important revelations about Eukaryotic cells.

Eukaryotes are believed to have been around on Earth for a few hundred million years, but they have also been found in outer space.  They proliferated into a variety of different forms, evolving to survive in all kinds of conditions;  single-cellular eukaryotes exist in extreme cold and heat conditions, they exist in extreme toxicity, pressure conditions, etc.  Basically they evolved abilities to survive almost anywhere and thrive in the harshest corners of Earth and God knows where else.  Through the millions of years of evolution and the extreme molecular and climatic changes that Earth undertook they have evolved the necessary adaptations developing the survival directed tolerance and adapting to both the extreme conditions, and the  competition and assault of other biological life including  their own species. The pecking of divergent is observed in many species – seemingly the evolution tests itself in a harsh way. And yet here we are! 

Why and when then the heightened sensitivity becomes important, and why cellular organisms migrate from the colonized zones of comfort [where they have already adapted] to the surrounding harsh environments?  This is the same question we may ask ourselves, and the answer would be the same – the same forces drive all of us.  We may say these are the fundamental drives of the evolution, but it is also logical – as the species proliferate, they become social and congregate; those on a periphery of social order are subject to a heightened exposure from the outside world – they need heightened sensitivity to detect the danger and they need higher tolerance to withstand the impact.

During the millennia of it’s existence eukaryotic cell learned and preserved many incredible traits of survival, which the multicellular organisms of their lineage may conditionally invoke and adapt. Reciprocally the adaptations that they make allow them to explore further and to evolve and refine their adaptations.  One of the most important qualities of cellular life is the ability to preserve Genetic knowledge. The mutations of the organism allowing it to adapt and evolve are saved in Genetic code; these mutations represent different genetic variants that can be invoked by the offspring organism as it self-constructs itself.   It is important however to understand the conceptual difference between the mutation and adaptation. Mutation is a new version of a gene or a new gene. It is a new variation that has survived and proliferated within species or became the new species –  mutation is a novel expression of gene’s DNA.  Adaptations on the other hand are the variants that organism already developed and saved in it’s DNA, and which the organism may choose to adapt in a process of self-construction – the variants which can be invoked by the cells of the organism depending on a universe of conditions.  

A choice of a particular adaptation [variant] by a gene of the developing [growing] organism however produces dependencies and often requires compatible adaptations in other genes –  these are the linkages which experimental science is beginning to observe [1, 2, 3, 4]. Experimental genetics is increasingly encountering Non-Mendelian adaptations and a variety of mechanisms for creation of gene variations – the early genetic view that random errors of genetic machinery are responsible for evolution is being slowly edged by experimental genetics, revealing it to be a facilitated process involving incredible ingenuity in gaining and retaining the genetic knowledge. 

The notion that evolution does not throw away genetic traits it has acquired in a process of survival is begging to come out, as well as the understanding that specific adaptations involve multiple genes an therefore involve linkages.  

For example the adaptations to high altitude by Himalayan Sherpas and other amazing adaptations exhibited by diverse populations are based in the adaptations invoked on a cellular level – the evolved cellular traits that were preserved by single-cellular DNA – but these cellular adaptations also necessitated and facilitated over time the regulatory mutations of other parts of the organism – preserving both the genetic variant and the linkages, and providing the offspring with the accumulated instrumental knowledge of survival passed to them in an encoded sequence of parental DNA.   

Before proceeding further let us summarize this important conjecture.  The genetic code represented by DNA of our cells contains all the variants of all the mutations in our lineage from the beginning as a single eukaryotic cell to what each of us is today. To accomplish this the evolution has developed sophisticated ways of data compression and referencing, the mechanisms for invocation of different variants [adaptations] as needed, as well as the facilitation of novel variations [link].

Let us now examine autism as a molecularly adapted state of ‘heightened  sensitivity’ by the cells of developing human organism.  This brings a number of important questions. What are the biological markers of heightened sensitivity?  At what stage of embryo development does it occur?  Are these adaptations replicated by the dividing cells?  What other mutations this adaptation is likely to produce evolutionary as a result in an evolving multicellular organism?

Each of these questions has been aggressively pursued by science producing both falsehoods and discoveries. The biological markers were specifically explored in pursuit of cellular abnormalities; none so far had been corroborated suggesting that heightened sensitivity of these cells is effectively due to a heightened state of alert by the cell rather than a permanent physiological adaptation.  Depending on the type of alert a cell  would invoke an adaptation that would counteract the expected impact. With heightened cellular sensitivity to low impact energies the organism has an early opportunity to develop coping defense mechanisms which eventually would translate into a heightened tolerance.  This is similar to how immune tolerance is developed via vaccinations –  the small dosages allow us to develop adaptations which are preserved and used when needed to repel a full blown viral attack.  Note that initially in early stages of development this would however appear as a low tolerance. What is very important for the developing organism is to learn a measured response and this is very much dependent on healthy and diverse environments.

From this perspective the heightened state of sensitivity in early stages of development effectively may benefit the organism by allowing early development of tolerance adaptations which subsequently would be honed by an increased exposure of this organism that results from life on periphery [which in the past was commonly a frontier].  We would speculate that during the incubation and a 1st year of life [prior to the extended neural growth associated with these variation] a human child with heightened state of cellular sensitivity would have a finer opportunity to develop adaptations to basic elements, and therefore a higher tolerance to environmental changes.  Evidently both the heightened sensitivity and high tolerance to extreme conditions have evolved in many diverse human populations, producing a variety of important lineages including autistic.

From this perspective, the attempts to identify biological autistic markers on a cellular level will continue to be inconclusive, because cells exhibit the state of response to stimuli which is transient. This correlates with observation and is logical since adaptation of ‘unicells’ to cold is expected to produce different cellular bio-markers than to heat, while at the same time being subject to a variety of other unaccounted conditions and irritants that would inadvertently  influence the result. 

Why some cells of a uniform population adapt high sensitivity is unknown but it seems to correlate with rapid environmental changes and appears to occur both in reactive and anticipatory manner.  The anticipatory behavior may be due to parental inference during meiotic recombination [creation of haploid seed], and during subsequent self-expression occurring in early stages of fetal development prior to a division into bodily parts which begin to replicate independently [by cloning and differentiation] while constructing different parts of the body.  In simple words – the adaptations in regard to cellular sensitivity and tolerance are decided early in the organisms life-cycle. 

To summarize – the state of heightened cellular sensitivity is anticipatory in nature and promotes the development of  higher tolerance to a variety of natural forces.  It is invoked at early stages of development. A human organism at some point of development makes choices in regard to increased flows of information – such as – avoidance, blockage, filtering, or processing.  We believe that there are lineages which attempted and adapted each of these possibilities and their combinations.  The Autistic lineage is one of them – and it is centered on the  ‘Processing’ choice.

This is analogous to Cybernetics. An increased amounts of information [sensory data] require an increased processing power [neural capacity] and the refined distributed approaches.  In case of autism this has translated to an extension of the prefrontal cortex development and some complex  synesthetic data sharing by different processing parts.

Since the embryological development is tightly packed, this development had to occur at the post-embryonic stages. And so the evolution has chosen a specific time during early childhood development to fit that in [somewhere between 1-2 years]. It is very likely that similar lineages exist in other species as well – since the incidence of heightened cellular sensitivity appears to be universal. It is also likely that other inferences may lead to the extended development of the prefrontal cortex.  Basically these are not hardcoded lineages [facilitated adaptation – Kirshner].  

The enlargement of the brain however and different synoptic neurology is expected to prompt a variety of adaptations [in neural plane], and may facilitate other adaptations and eventually mutation –  in some circumstances beneficial and in some circumstances detrimental.  It would be reasonable to expect that it would extend the timeframe of child’s bio-developmental process affecting the organism in many ways, as is observed.  

At this point let us emphasize the importance of soft genetic linkages . These are cleverly designed [by evolution] genetic inferences connecting various adaptations through protein influences [enzymes] produced by preceding adaptations while also subject to other proteins.  In an ‘autistic set‘ one would expect both soft and hard linkages – all timely exposed to the developing organism as it progresses –  allowing it to choose [epigenetically] as its biological clock unwinds.  Biologically autism is not a predisposition, it is not hardwired – but it may be looked at as an autistic lineage. Which brings us to Population Genetics.

Statistical models of population genetics suggest that significant proportion of humanity has already incorporated the traits required for autistic adaptation and are effectively the carriers. Carrier is somebody who carries genetic variants that can cause autism even if autism has not been enacted in this individual. This means that at least one of the parents must be a carrier, and it also means that the number of carriers is greater than the autism prevalence numbers. The twin studies suggest that the number of carriers is significantly higher than the number of individuals that have autism actively expressed. The statistics of autism prevalence is somewhere under 2%, with male to female ratio of 5 to 1, i.e. it is five times more common in males. Whatever the actual current percentage of carriers are among men and women – according to rules of probability, the percentage of carriers would remain stable when populations are significantly large and unrestricted breeding is permitted, which is precisely the state of the things today. The huge populations that are mobile and interbreeding would preserve the number of carriers, while expressed autism prevalence may fluctuate somewhat in stable environments due to external conditions. This is a simple consequence of large dynamic populations and the genetics of sexual reproduction in stable conditions.  

Theoretically under specific inducing conditions all the offspring of  autistic lineage may express themselves in an autistic fashion – by selecting a variety of autistic traits and adaptations, as each develops into an extremely sensitive mechanism with exceptionally robust physic, capable of withstanding cold and heat by a few degrees and for longer periods of time, as autistics often do; their brain larger and taking longer time to develop [compare chimpanzee to a human] – with maturation delayed, implying delayed bodily control, a delayed speech, and perhaps none at all [it’s been speculated that in some the sensitivity is so heightened that one can sensibly perceive the electromagnetic and other forces emanating from our brains, amplifying and interpreting these rather then our speech, and wondering what is wrong with us not communicating!]. 

We conclude by repeating a passage from “Autistic Grievance” – Why do we need them?  We need them because we are heading into trying times – extreme conditions on our earth and huge migrations of people which will continue until all the human variations have fused through interbreeding, so no a single trait, not a single gene, not a single adaptation would be lost, but all the acquired mutations would be preserved in a new Adam(s). We need autistics as we need them all, all the tribes of humanity. You need to be blind to develop echolocation, but we do; we as species need blind. We need deaf, and crippled, by birth or injury. We  need their genes, we need their adaptations now in our time, and even more in the times coming. And these times are already upon us, and the new Adam is emerging – perhaps among the outcasts, the most abused, and inadequate as the mainstream humanity still holds.  But humanity needs their genes, their adaptations, their sensory abilities, their perseverance, their abandonment, because it is in them who carry the genes honed in the harshest conditions, that we find sustenance in times of change. We would need them as the trying times are approaching fast. They come among us for a purpose. 

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