There are a few serious disconnects between the science of genetics and the application of that science to medicine, and it’s putting millions of people at risk of exposure to unnecessary medical interventions, including life-long exposure to psychotropic medicines. These exposures are starting at an increasingly young age.
First, I will outline the signs that a “genetic disorder” is not genetic:
(1) The variation in the human genome involves “common variants”. Common genetic variation, whether it be in the form of SNPs, or mitochondrial variation, non-synonymous substitutions or, or insertion/deletions, are ancient, pre-dating not only the development of psychiatry, but pre-dating the development of Western Medicine – and Western Civilization itself. These genetic variants nearly all pre-date the invention of the airplane, cars, houses, and roads.
Examples include common variations in the MTHFR gene, and the 12 SNP loci identified in a study of ADHD that reports the “first” evidence of genetic variation linked to that condition.
While the traits associated with the “disorder” are “heritable”, that is only because those traits are heritable in the human population. It is important to note that it is the specific genetic variation that is associated with the “condition” that is ancient – not just the highly conserved functionally important parts of the genome, and some coverage of that study has confused these two entities.
(2) No grandparents have the condition – and many parents of people with the condition do not have it.
Autism is found in a startling 1 in 56 Americans – with rates as high as 1 in 25 boys. These children’s grandparents certainly do not have the tell-tale signs of not talking, hand-flapping, toe-walking, lack of eye contact, and difficulty in navigating socially. In the 1980s and 1990s, parents of the newly diagnosed children not only never heard of “autism” – many did not even ever hear of any child with the same set of symptoms that their children were exhibiting. Most autism-related genetic variation also involves common variation, although much of the variation is de novo (i.e., unique to the child) representing mutations, perhaps from environmental toxins that the parents – or, in the cases of mothers’ DNA, the grandmother – was exposed to.
(3) The genetic variation explains too little of the traits in question.
The common understanding of “genetic” traits – such as eye color – is that they show very specific reproducibility in appearance from generation to generation, even when they are are influenced by multiple loci. This high-fidelity transmission can occur in discrete traits that occur in categories, or in traits that are continuous traits with variations on a theme, within narrow bounds. At the population level, eye color is determined by numerous loci, leading to variations within categories, but the inheritance is very clearly discrete.
Heritability studies in autism only explain around 50% of the inheritance of the phenotypes (traits) that lead to autism. This estimate is done at the population level, not at the individual level – a parent of a child with autism is not 50% autistic. The 12 new loci discovered in ADHD only explain 74% of the trait – meaning that environmental factors have a large influence in determining whether the occurrence of the traits occurs in an individual or not. In autism, the largest studies point to a lot of room for environmental factors. The right types of studies that look at both genetics and environmental exposures in the same individuals have not been conducted in ASD nor in ADHD. If they did, we would know the significance of the interaction term between environmental exposures and genetics.
So there are times when a “genetic” condition cannot be labeled “genetic”. Here are some reasons why a “genetic condition” might not even be the right “condition” to be concerned with.
Source %G %E %missing
Hallmayer 38(h2) 58 4
Sandin 46 54 0
Colvert 56 30 8
Table from “The Environmental and Genetic Causes of Autism” reviewing %Genetic, %Environment(%E) and %Unexplained (missing) from genetic studies of autism.
(1) The “condition” itself is a sequela of one or more true underlying conditions.
If a person has no problem with specific environmental exposure, but then develops a condition as a result of another condition, they may be confused with having a condition they would not otherwise have. This is a type of co-morbidity, and if the symptoms of the actual underlying, sometimes hidden condition are lessened, the indirect resulting condition may become alleviated. An example is encephalopathy leading to autism involving the exposure of the brain to toxins from food and gut bacteria due to conditions with lesions in the intestine. The intestinal epithelium layer is the largest surface area by which we interact with our environment. Dignoses of ASD can result with neither the parents – nor the doctors – aware that the issue is chronic exposures to toxins leading to brain inflammation.
(2) The risk of the outcome of an environmental exposure is heritable, not the condition, and the severity of the condition is driven by environment.
If a condition comes and goes with changes to exposures to specific environmental triggers, the sensitivity is the primary condition, not the symptoms. An example would be food allergies that lead to altered mental states, or to simple rashes resulting from food or chemical exposures. These sensitivities are often not genetic – the parents may or may not have certain similar sensitivities – and they often involve immunological responses with a component of autoimmunity. Another example would be seasonable allergies and asthma. Remove the trigger, the sensitivity remains, but the root cause is an autoimmunological response made possible by prior exposure to allontigens in the presence of a substance that over-activated the immune system, such as aluminum hydroxide in vaccines.
(3) The”genetic condition” can be modified by changes in diet, restrictions to food triggers, removal of toxins, or other seemingly unrelated improvements.
Studies have now shown long-term benefits from correcting the gut microbiota in autism, leading to a 50% reduction in the severity of ASD symptoms via fecal microbiota transpant (FMT). Not only are the improvements apparently permanent, they also appear to help every child. As the moms have been saying for years: Heal the Gut, Heal the Mind.
The risk of psychosis from ADHD psychotropic medicines is estimated to be 1 in 660. In my book, “Cures vs. Profits”, I have a chapter on ADHD entitled “Overdiagnosis of ADHD: It’s their mind, not yours” and also a chapter on FMT. Clearly the improvements made by FMT are historic, and every parent of a child with ASD would do well to read as much you can about FMT. I’ll end this article with a list of links to articles on the ASD studies as a start toward what will hopefully be a better future for kids with ASD and their families.
I wonder if FMT might have permanent benefit for ADHD as well?
Related links:
https://www.nature.com/articles/s41598-019-42183-0
https://www.sciencedaily.com/releases/2019/04/190409093725.htm
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264285/
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All true and valid. However, I think it’s also important to acknowledge that what may not be a genetic disorder can still be valid as a heritable condition or trait that makes one more susceptible to a given disorder — just as a narrowed drain is not a clog but does legitimately make that drain more likely to clog than others.
MTHFR is a good example of that. Those with multiple “negative” MTHFR SNPs do appear — scientifically — to be more susceptible to certain conditions related to “clogging,” as it were, of the methylation cycle. So something like liver damage from acetaminophen or dangerous toxicity from nitrous oxide is more probable, and it seems (from the limited evidence available, given the limited study) that vaccine injury may be, as well.
It’s important to recognize that the genetic makeup is a legitimate predisposition/factor in the equation, while also recognizing that the genetic makeup did not cause the end condition (such as autism).
The question of genetic risk is incontrovertible. The condition itself, however, is not inheritable when environmental factors play such a large role. For such conditions, epigenetic disposition and heritable risk alone are “genetic”.
My autism spectrum disorder was diagnosed in my thirties. I would have had an Asperger’s diagnosis previously. My father’s was never diagnosed, not his father’s.
The “epidemic” is due to shifting criteria, better medical care, increased awareness and financial implications of diagnosis.
Published in 2017
https://www.ncbi.nlm.nih.gov/pubmed/28589495
Diagnostic Substitution for Intellectual Disability: A Flawed Explanation for the Rise in Autism.
Nevison CD, Blaxill M
Time trends in autism spectrum disorder (ASD) and intellectual disability (ID) prevalence from the United States Individuals with Disabilities Education Act data were computed from 2000 to 2011 for each state and each age from 6 to 17. These trends did not support the hypothesis that diagnostic substitution for ID can explain the ASD rise over recent decades, although the hypothesis appeared more plausible when the data were aggregated across all states and ages. Nationwide ID prevalence declined steeply over the last two decades, but the decline was driven mainly by ~15 states accounting for only one-fourth of the U.S. school population. More commonly, including in the most populous states, ID prevalence stayed relatively constant while ASD prevalence rose sharply.
Published in 2018
https://link.springer.com/article/10.1007/s10803-018-3670-2
California Autism Prevalence Trends from 1931 to 2014 and Comparison to National ASD Data from IDEA and ADDM
Time trends in U.S. autism prevalence from three ongoing datasets [Individuals with Disabilities Education Act, Autism and Developmental Disabilities Monitoring Network, and California Department of Developmental Services (CDDS)] are calculated using two different methods: (1) constant-age tracking of 8 year-olds and (2) age-resolved snapshots. The data are consistent across methods in showing a strong upward trend over time. The prevalence of autism in the CDDS dataset, the longest of the three data records, increased from 0.001% in the cohort born in 1931 to 1.2% among 5 year-olds born in 2012. This increase began around ~ 1940 at a rate that has gradually accelerated over time, including notable change points around birth years 1980, 1990 and, most recently, 2007.
Why do you brush aside my anecdote yet exhort those of unfortunates whose children presented soon after vaccination, rather than before?
anyway
https://www.ncbi.nlm.nih.gov/pubmed/?term=26198689
While recent studies suggest a converging role for genetic factors towards risk for nosologically distinct disorders including autism, intellectual disability (ID), and epilepsy, current estimates of autism prevalence fail to take into account the impact of comorbidity of these disorders on autism diagnosis. We aimed to assess the effect of comorbidity on the diagnosis and prevalence of autism by analyzing 11 years (2000-2010) of special education enrollment data on approximately 6.2 million children per year. We found a 331% increase in the prevalence of autism from 2000 to 2010 within special education, potentially due to a diagnostic recategorization from frequently comorbid features such as ID. The decrease in ID prevalence equaled an average of 64.2% of the increase of autism prevalence for children aged 3-18 years. The proportion of ID cases potentially undergoing recategorization to autism was higher (P = 0.007) among older children (75%) than younger children (48%). Some US states showed significant negative correlations between the prevalence of autism compared to that of ID while others did not, suggesting state-specific health policy to be a major factor in categorizing autism. Further, a high frequency of autistic features was observed when individuals with classically defined genetic syndromes were evaluated for autism using standardized instruments. Our results suggest that current ascertainment practices are based on a single facet of autism-specific clinical features and do not consider associated comorbidities that may confound diagnosis. Longitudinal studies with detailed phenotyping and deep molecular genetic analyses are necessary to completely understand the cause of this complex disorder.
Nevison’s novel, unpublished, unvalidated method lacks even face validy.