Autism Spectrum Disorder - Causes and Possible Cures

[Lucas88]

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition which may include social interaction challenges, communication difficulties, information-processing abnormalities, hypersensitivity and sensory overload, a propensity for fatigue, and repetitive behaviors.

Furthermore, ASD has been reported to share some level of comorbidity with ADHD, with studies suggesting that anywhere from 30% to 80% of individuals with ASD also exhibit ADHD symptoms such as inattention, hyperactivity and impulsivity (in fact, these two disorders seem to be related in terms of their etiology), as well as a significant degree of overlap with OCD as evidenced by the prevalence of obsessive thoughts and compulsions in ASD.

Less known is the fact that many individuals affected by ASD (as much as 80%) also have poorer-than-average coordination. Some even exhibit some degree of dysprosody (abnormalities in pitch, intonation, rhythm or timing of speech, often displaying a flat, monotonous or robotic tone) as part of their communication difficulties.

Most people today are familiar with the clinical profile of ASD but few people know anything about the condition's causes. In recent years there has been a significant amount of research into the etiology of ASD. As of 2024, the probable causes are the following:

1. Genetic mutations

As of 2024, over a hundred genetic mutations have been identified in association with ASD. These include both inherited gene variants and de novo mutations (new mutations not found in parents).

Some of the most prominent genetic mutations that contribute to the development of ASD include:

SHANK3, which encodes a protein involved in synaptic function and neuronal communication.

CHD8, responsible for chromatin remodelling and therefore transcription and gene expression regulation during brain development. Mutations of this gene have also been linked to macrocephaly, distinct facial features and gastrointestinal problems.

SYNGAP1, responsible for synaptic plasticity, neuron signalling and cognitive function. Mutations of this gene can lead to intellectual disability and epilepsy.

FMR1, responsible for neuronal development and synaptic function. Mutations of this gene can lead to Fragile X Syndrome as well as the cognitive and behavioral challenges found in ASD.

PTEN, responsible for regulation of synaptic growth. Mutations of this gene can lead to overgrowth of neural connections and macrocephaly.

UBE3A, responsible for protein regulation. Mutations of this gene are linked to Angelman Syndrome and can lead to dysregulation of synaptic function.

SCN2A, which encodes for a sodium channel involved in the electrical signalling of neurons. Mutations of this gene are linked to epilepsy and can lead to altered neuronal excitability.

The presence of the mutated variants of these genes as well as many others can result in disruption of normal synaptic function and neuronal communication and give rise to the abnormal cognitive and behavioral characteristics of ASD.


2. Environmental pollutants

Recent research has linked exposure to various heavy metals, endocrine disruptors, pesticides and air pollution to the development of ASD. This isn't very surprising given the progressive toxification of our living environment since the latter half of the 20th century.

Heavy metals

A meta-analysis study by Rossignol et al. (2018) and published in "Molecular Autism" suggested a relationship between heavy metal exposure (e.g., mercury) and an increased risk of ASD, especially during prenatal life and early childhood.

It is thought that heavy metal exposure may induce oxidative stress, disrupt cellular function, damage neurons and even alter gene expression (see epigenetic modifications).

Endocrine disruptors

A research study by Miodovnik et al. (2016) and published in "Environmental Health Perspectives" found a relationship between certain phthalates and an increased risk of ASD.

A Chinese study by Wang et al. (2019) "Maternal and Umbilical Cord Blood Bisphenol-A Concentrations and Early Childhood Autism Spectrum Disorder in Shanghai, China" found a relationship between BPA levels in umbilical cord blood and an increased risk of ASD.

Likewise, Tian et al. (2020) "Association of Bisphenol A Exposure with Autism Spectrum Disorder in Chinese Children" found a relationship between urinary BPA levels and ASD, with higher BPA levels associated with increased severity of ASD symptoms including social impairment, communication difficulties and repetitive behaviors.

It is now clear that endocrine disruptors such as phthalates and Bisphenol A may disrupt hormonal pathways and lead to alterations in brain structure and function, resulting in ASD phenotypes.

Pesticides

A research study by Roberts et al. (2014) and published in "Environmental Health Perspectives" found that children born to mothers who lived near fields treated with pesticides had a higher incidence of ASD.

Pesticides may disrupt the endocrine system, interfere with neurotransmitters and induce oxidative stress.

Air pollution

A research study by Volk et al. (2013) and published in "Environmental Health Perspectives" found that exposure to traffic-related air pollution during prenatal life and the first year was associated with an increased risk of autism.

Air pollutants such as particulate matter (PM), nitrogen dioxide (NO2) and polycyclic aromatic hydrocarbons (PAHs) may induce oxidative stress and brain inflammation during development.


3. Epigenetic modifications

Epigenetics refers to the modification of chemical markers (e.g., methyl, histones, etc.) that activate or deactivate gene expression without any alteration to the underlying DNA sequence. Such modifications of chemical markers are brought about by environmental factors such as exposure to chemicals.

DNA methylation

A research study by Gregory et al. (2014) and published in "Molecular Psychiatry" found abnormal DNA methylation patterns in the oxytoxin receptor gene (OXTR) in the brain tissues of individuals with ASD.

Changes in DNA methylation may effect the expression of genes responsible for brain development and synaptic plasticity, thus altering neural pathways that are fundamental for social interaction, communication and cognitive function.

It is possible that the epigenetic modifications associated with ASD such as abnormal DNA methylation patterns may be caused by some of the environmental pollutants included in the previous section.


4. Gut-brain axis dysfunction

The most recent research suggests that in some cases the cause of autism may ultimately lie in dysfunction of the gut-brain axis—the bidirectional communication between the gastrointestinal tract and the central nervous system.

A research study by Wu et al. (2019) and published in "Cell" found altered gut microbial composition in children with ASD, particularly a reduction of beneficial bacteria such as Bifidobacterium.

This dysbiosis may lead to the disruption of microbial metabolites crucial for brain development and function.

A meta-analysis study by Vojdani et al. (2019) and published in "Nutritional Neuroscience" reported evidence of increased intestinal permeability (i.e., leaky gut) in individuals with ASD.

Increased intestinal permeability may allow the passage of microbial products, toxins and inflammatory molecules into the bloodstream, which may in turn trigger systemic immune response and neuroinflammation, thus affecting brain function and behavior and resulting in ASD phenotypes.


Conclusion

ASD seems to be caused by a combination of genetic mutations (inherited or de novo), environmental pollutants, epigenetic modifications, and gut-brain axis dysfunction.

The etiology of ASD may be heterogeneous—some cases may be due to serious genetic mutations while others may be caused by intoxication from environmental pollutants and gut-brain axis dysfunction.


Treatments and cures

In light of these identifiable causes, what might be the best treatments and cures for ASD in the future?

For serious genetic mutations, CRISPR gene editing may be necessary to correct the genetic mutations associated with ASD (there have already been successful instances of this in gene editing experiments with mice).

For epigenetic modifications (e.g., abnormal DNA methylation patterns), pharmacological intervention in the form of new classes of drugs that modify certain parts of the epigenome may be useful.

For gut-brain axis dysfunction, targeting the gut microbiota with dietary changes, probiotics and fecal microbiota transplantation (FMT) may serve as a therapeutic treatment.

How do you see the future of ASD treatments and cures?

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@Lucas88

I'm no expert in the matter but, from what I observed, the number of ASD children I'm seeing in the past few years is absolutely staggering.

Back when I was a teenager and in college, I remember only knowing about one case, the brother of one of my college friends. He was a pretty severe case.

Fast forward to today and I see ASD everywhere. My cousin has 3 kids, one of them ASD. My wife's cousin has a daughter with mild ASD. Her cousin, from mother's side, is a more severe case.

Again on my wife's side, she has uncles in the US, one of them a prominent neurosurgeon, based near LA. His daughter is also autistic.

Either we postulate that our DNA is deteriorating faster then we thought, or we realize that the our environment is contributing to a much, much larger extent.

Like you just wrote, it's in the metals and other toxic materials that enter our bodies through the food chain, or by inhalation. The effect of EM radiation from our mobile phones and WiFi spots, more recently the 5G nanocell antennas (the number of which is bound to grow exponentially), has never been assessed honestly. There are trillions of dollars in the telecoms industry.

As a society, we are definitely bound to self-destruct. Maybe that's part of the globalist agenda. In the near future, only multi millionaires and billionaire will be able to afford the kind of lifestyle that will not make them sick and dead within a few decades.

[Lucas88]

Either we postulate that our DNA is deteriorating faster then we thought, or we realize that the our environment is contributing to a much, much larger extent.

The evidence at this point shows that both of these things are happening.

Genome analysis studies from the mid 2010s have found that individuals with ASD tend to exhibit more de novo mutations (new mutations that are not inherited from parents) compared to their non-ASD siblings.

For example, a study by Sanders et al., "Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci" (2015), analyzed whole-genome sequencing data from 2,500 families with ASD children and found a higher number of de novo mutations in individuals affected by ASD, especially in genes involved in synaptic function, neuronal development and chromatin regulation.

The findings of this genome analysis study, as well as others like it, provide strong evidence for the role of de novo mutations in the etiology of ASD.

But then one must ask: What is the cause of all these recent de novo mutations that are contributing to the autism epidemic?

Researchers have suggested advanced parental age (mutations in sex cells become more frequent the older the parents are), and environmental factors such as prenatal exposure to toxins and mutagens.

So we are back to the problem of widespread environmental pollutants as a major factor of ASD, for which the evidence continues to mount.