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Sloping Gaining Slip? New Research Uncovers Genetic Identifier, Common Physical Traits for Autism; May Allow Clinicians to Determine Risk for Babies Still In Utero

Slippery slopeManaging Editor's Note: We brought you a post last month describing one possible outcome of genetics tests for autism and a request to slow down the Autism CARES bill until critical details are reviewed.  Please HELP Restrict Autism CARES bill from Funding Abortion Research :

A press release sent out on July 3rd talks about the genetics of children diagnosed with autism, constipation, GI issues and sleep disturbance - which sounds like many of our vaccine injured children, doesn't it?  Perhaps the genetics is about which kids are susceptible to vaccine injury that results in autism, constipation and sleep disturbances?  This is a slipperty slope. A topic fraught with controversy. And worth considering and discussing. 

SEATTLE, July 3, 2014 /PRNewswire/ -- A researcher at Seattle Children's Hospital and Research Institute has found a genetic identifier for autism that includes physical features that may eventually allow clinicians to identify babies who are at risk for autism before they are born. This is the first time a genetic mutation has been linked to autism.

Dr. Raphael Bernier, clinical director of Seattle Children's Autism Center and Associate Professor at the University of Washington, who led the research in collaboration with 13 institutions worldwide, has discovered a mutation of the CHD8 gene that, in addition to significantly increasing a child's risk of developing a specific subtype of autism, also causes several physical traits and symptoms that are unique to children with the same subtype of autism.

The physical traits – subtle facial features, such as larger heads and prominent foreheads – are features that, combined with confirmation of a CHD8 gene mutation, could allow clinicians to screen babies still in utero for a higher risk of developing autism, much like clinicians now screen for physical and genetic indicators of disorders like Down's Syndrome.

"This is a big leap forward in our insight into the causes of autism," said Bernier, who led the study published today in the scientific journal Cell. "It's possible we may be able to look at features in utero and determine a higher risk of autism, possibly even early detection."

Read more:


Autism mom

Here's another study on toxic effects pharmaceuticals can have on the mitochondria by Dr. Bruce Cohen.

Dev Disabil Res Rev. 2010 Jun;16(2):189-99. doi: 10.1002/ddrr.106.

"Pharmacologic effects on mitochondrial function."
Cohen BH.


"The vast majority of energy necessary for cellular function is produced in mitochondria. Free-radical production and apoptosis are other critical mitochondrial functions. The complex structure, electrochemical properties of the inner mitochondrial membrane (IMM), and genetic control from both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) are some of the unique features that explain why the mitochondria are vulnerable to environmental injury. Because of similarity to bacterial translational machinery, mtDNA translation is likewise vulnerable to inhibition by some antibiotics. The mechanism of mtDNA replication, which is required for normal mitochondrial maintenance and duplication, is inhibited by a relatively new class of drugs used to treat AIDS. The electrochemical gradient maintained by the IMM is vulnerable to many drugs that are weak organic acids at physiological pH, resulting in excessive free-radical generation and uncoupling of oxidative phosphorylation. Many of these drugs can cause clinical injury in otherwise healthy people, but there are also examples where particular gene mutations may predispose to increased drug toxicity. The spectrum of drug-induced mitochondrial dysfunction extends across many drug classes. It is hoped that preclinical pharmacogenetic and functional studies of mitochondrial toxicity, along with personalized genomic medicine, will improve both our understanding of mitochondrial drug toxicity and patient safety."

Autism mom

For Joy and Bendetta, Here is an interesting study on mitochondria as a target of toxicants. It mentions pharamceuticals having a toxic effect.

Toxicol Sci. 2013 Jul;134(1):1-17. doi: 10.1093/toxsci/kft102. Epub 2013 Apr 29.

Mitochondria as a target of environmental toxicants.
Meyer JN1, Leung MC, Rooney JP, Sendoel A, Hengartner MO, Kisby GE, Bess AS.


"Enormous strides have recently been made in our understanding of the biology and pathobiology of mitochondria. Many diseases have been identified as caused by mitochondrial dysfunction, and many pharmaceuticals have been identified as previously unrecognized mitochondrial toxicants. A much smaller but growing literature indicates that mitochondria are also targeted by environmental pollutants. We briefly review the importance of mitochondrial function and maintenance for health based on the genetics of mitochondrial diseases and the toxicities resulting from pharmaceutical exposure. We then discuss how the principles of mitochondrial vulnerability illustrated by those fields might apply to environmental contaminants, with particular attention to factors that may modulate vulnerability including genetic differences, epigenetic interactions, tissue characteristics, and developmental stage. Finally, we review the literature related to environmental mitochondrial toxicants, with a particular focus on those toxicants that target mitochondrial DNA. We conclude that the fields of environmental toxicology and environmental health should focus more strongly on mitochondria. "

autism mom

Could be. Maybe they are trying to stimulate blood flow. I think whatever the sensations is that they are feeling in their brains that head banging and pressing must help relieve it. I think maybe their head and jaw area are tingling sort of like when your foot falls asleep. The kids maybe experiencing a similar sensation. If only my son could tell me.

Joy B

autism mom, my own observations have been similar w the little boy I know and care for - upside down on the couch as soon as he could figure it out, and he also pressed his chin on things(my hand if it was close). We did however notice his head swell, the coronal line(skull line running from side to side) felt like a step for many months. He did head-bang but in a subtle and gentle way, up against a window just barely tapping it.

He has always enjoyed being hung upside down and swung around. I wonder if these motions and positions are sort of 'adrenalizing' the mito temporarily, giving them an unnatural boost. And this is what feels good to these kids, the temporary mito function.

autism mom


I wonder if head enlargement and head banging has to with brain swelling. My son did not head bang and I did not see my son's head size increase but he would turn upside down on the couch and press his head in to the seat cushions as if to relieve pain. He would also shake his head from side to side and press my hand into his chin. Maybe his chin felt numb or tingled. He also twirled. I don't know but in hind sight I think these were symptoms of a neuro (mito) problem.

My neighbors son who was also on the Spectrum (gee, what a cooincidence) was a side gazer. Vision problems another symptom of mito problem. It just all adds up.

It amazes me that more $$$$ isn't put into autism/ mito research-- Autism Speaks and SFARI chase elusive autism genes in nuclear DNA but avoid mito-autism research. Has the IACC even discussed mito? The cynical side to me thinks that they know the answer already.


autism mom:

Thanks for the information.

My husband at age 35 was dignosed after two reactions to vaccines with acquired mitochondria myopathy on the Complex I and III


Then of course there is the fishy language that was used by the vaccine compensation court. that there was a mild existing mitochondria disease that was made worse by the vaccines - a sort of quote by then Fox News reporter Alisyn Lane Camerota

It will be interesting to us both to see how this plays out

Joy B

Well said autism mom.

What I want to know is when these kids' heads starting becoming abnormally large.

Not in utero of course. 'So we can screen in utero'. They are just talking in circles and hoping to convince the majority that this is what 'science' is. So far it's working.

autism mom

yes, epigenetic:

genetics (mtDNA) + environmental triggers = autism.

Experts say mitochondria are vulnerable to environmental insults (viruses and toxins). So what I think is happening is that our kids are more vulnerable in that they have inherited imperfections in a high number of their mitochondria (mtDNA). Normally these kids would be healthy and able to function. Introduce vaccines. The vaccines are toxic to the mitochondria triggering the onset of a mitochondrial dysfunction. The result: autistic regression.

Mito dysfunction/ autism symptoms:

head banging
loss of language
motor problems
GI issues
developmental delay
vision problems
sensory disturbance

The greater number mitochondria that carry mtDNA imperfections in a child, the greater the regression and the severity of autism. Vaccine again trigger the onset of the mitochondrial dysfunction in this subset of kids.

Mitochondria, supply cellular energy to all organs in the body including the brain. When mitochondria dysfunction it's like multiple fuses blew but you cannot replace the fuse. System wide failure.

So yes, epigenetic. but our kids would have been fine without the trigger(s). That is key.

A good resource on autism and mitochondria dysfunction is the web site.

The relationship between autism and Mito:



The Mitochondrial is not stable?
It gets lessions in them as they age?

Sounds like the environment -- it worked like it should for a while -

They get us with this stuff because it sort of runs in families.

Sort of but does not really work like the classical Mendelian's genetic passing down the genes.

Environments and environmental damage is passed down making it appear genetic. I think the new name that has been used for a while now is epigentics.


Appreciate your thoughts on this Benedetta. I agree that the immune system is being primed by vaccines resulting in over reaction to environmental stimulants, food etc. that would explain why peanut allergies have soared among children.

Because mitochondrial disease symptoms (Sensory disturbance, seizures, moto problems and dev. delay) overlap with autism, I'm just not ready to let go of mitochondria dysfunction theory on autism. Perhaps both are happening (immune overreaction combined with a mito dysfunction). Regardless, they really did a number of our kids with all these vaccines.

This article came out yesterday.

Mutations Pervade Mitochondrial DNA
Pathogenic mutations in mitochondrial DNA are common in healthy people, according to a new study.

By Jyoti Madhusoodanan | July 7, 2014

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EUREKALERT, ODRA NOELMutations in one or more copies of mitochondrial DNA, known as heteroplasmies, are likely to be much more common in healthy people than previously anticipated. Approximately 90 percent of healthy participants in the 1000 Genomes Project harbored at least one heteroplasmy, and 20 percent bore mitochondrial genome mutations implicated in diseases, according to the results of a study published today (July 7) in PNAS.

“It’s been known for a long time that lesions in mitochondrial DNA become more prevalent with age,” said metabolic disease specialist Neal Sondheimer of the Children’s Hospital of Philadelphia who was not involved with the work. This study “offers the intriguing possibility that maybe everybody has a little bit of something wrong with their mitochondrial DNA and that might play a role in aging.”

Because a single cell can contain hundreds to thousands of mitochondria, it also carries multiple copies—and, sometimes, variants—of these maternally inherited genomes. Pathogenic mutations can co-exist with healthy mitochondrial DNA (mtDNA) within a cell or group of cells; clinical signs of disease only occur when the frequency of mutations crosses a threshold, which typically ranges from 60 to 85 percent of mitochondria.

More than 500 point mutations in mtDNA have been implicated in various diseases so far. Previous studies, which had only examined a control region or subsets of mitochondrial DNA, suggested approximately 25 to 65 percent of people harbored heteroplasmy.

The new study, led by Zhenglong Gu of Cornell University, examined nearly 85 percent of the mitochondrial genome in 1,085 healthy participants, drawn from 14 different populations, and detected mutations at frequencies as low as 1 percent. The team identified a total of 4,342 heteroplasmies, 301 of which have been linked to disease. One in five participants carried at least one such pathogenic mutation, according to Gu.

This is the “first study to have used such deep sequencing on so many positions and in this many people, so it’s sort of hit a trifecta,” said Sondheimer.

Severe mtDNA mutations can cause certain myopathies, epilepsy, and other diseases, while less pathogenic variants have been implicated in complex conditions such as type 2 diabetes, aging, and cancer.

Although these results suggest pathogenic mtDNA mutations are more prevalent than previously thought, the low frequency at which they occur is unlikely to have a negative impact on health. However, if the mutations increase in frequency in some fraction of cells as they divide, they could provide a likely source of mitochondrial dysfunction, according to the authors.

“The problem is that mitochondrial DNA isn’t stable, so there’s nothing to say that a 1 percent load of mutation won’t blossom into a different level later,” Sondheimer told The Scientist. Even though a low-frequency mutation “isn’t pathogenic in and of itself, it’s harder to develop a mutation later if you don’t have one, compared to when you start with some level of mutation,” he said. This is especially important when considering the formation of oocytes, which creates a “bottleneck” in which only a few mitochondria from maternal cells are parsed into daughter cells. The process can change the disease-causing potential of a heteroplasmy from one generation to the next, according to Sondheimer.

This difference in mutation frequency between oocytes can mean patients with severe mitochondrial diseases have siblings who carry the disease-causing heteroplasmy, but remain healthy because of its lower frequency. “It is still unknown whether [these] low loads of pathogenic mutations, which are common in siblings, contribute to later-onset phenotypes like neurodegeneration, cancer or aging,” said Sondheimer.

In future studies, Gu and his colleagues plan to study heteroplasmy in single cells and in samples from various tissues, which might have different heteroplasmies than the samples in the 1000 Genomes Project. “It’s possible that right now our estimates might not reflect the real situation in humans,” Gu told The Scientist.

The larger question, according to Gu, is to understand “whether these cells die or [proliferate and] cause degenerative diseases.” Understanding how the frequency of heteroplasmy changes over the course of a person’s life could help manage disease progression or aging, he said.

The mitochondrial genome could be “of ultimate important in aging-related disease,” said Gu. “Hopefully our research will generate more interest.”

K. Ye et al., “Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals,” PNAS, doi:10.1073/pnas.1403521111, 2014.


And if anyone can stomach it -- or interested -- here is Eric Browns "Microbiota and Vaccines"

Blunt instrument


In this NIH human microbiome meeting they had Eric Brown a grad student present the information gathered by a Dr. Finlay in Canada --
He did not come and I can see why -- their subject was titled "Vaccines and Microbes"

He begins by putting down those that say vaccines don't work -- if ever a man skirted around -- and had to go canty and carfully --

and still he ended up saying vaccines were a blunt instrument--

in other words - though he did not say it a vaccine not only is priming the immune system to fight against pathogens --but probably what ever keeps the Candida yeast stuff in check.

He also said toward the middle end -- we all know vaccine and autism is used a lot together -- you could see when he said it - he was holding his breath--

But then he went on to say that maybe the could put these vaccine = antigens on Lactobacillus and give us oral vaccines -- which opens up right away to me -increasing the danger of priming the immune system to attack a very good bacteria so not only can we no longer eat peanut butter, eggs, soy, milk, gluten -or anything that has MSG in it but - we can add to that list pickles, buttermilk and yogurt yeap more to the growing list.

But it is not our mitochondria - it is something interferring with the process.


So they are poisoning perfectly healthy kids. I question though why some organizations are pushing genetic research in autism so strongly. Both Autism Speaks researchers and SFARI are heavily invested in genetics. Why? I also notice an increase in reporting on children born with rare genetic conditions, pushing IVF and third party DNA donations where a third party donates their mitochondrial DNA that is inserted into an embryo to prevent inherited disease.

"Designer babies are only for the Wealthy" - Yahoo News



I am sorry I forgot to put address you, I was responding below to your comment on what they might find in the mitochondria of our babies.


The NIH conference on the human microbiome Huttenhower is talking about how they were taking m RNA and proteins organizing them to distingish what speices of microbes they were and putting them in a data base -- they are now up to 5 million types of microbes. And as my eyes crossed

He made a brief ststement -- and had it up on the screen too == just a simple sentence
Candida interfered the Complex I on the mitchondria.

That was all he said on the matter and then dove right back into DNA sequencing and proteins and m RNAs.

It don't look like your golden baby has anything wrong with it, except a Candida overgrowth.

The told us in school that Candida was there to help us keep the rest of the microbes crowded out.

I got a Candida infection -- the first one I ever had in my 20s - right after a DPT shot.

This is after years of growing up with constant home made cinnamon rolls - with no problem.

Anita Donnelly

I think it's worse than this: by encouraging pregnant women to get the mercury-filled flu shot twice during pregnancy they identify which babies might embarrass them by reacting to vaccines later by clearing them out of the gene pool now. The problem is reacting to a heavy metal is not a trait that normally needs to be weeded out of the gene pool (not that any should be). But what's terrifying is that weeding out these babies would benefit corporate greed. It is truly frightening and evil. Instead why not say "these fetuses react poorly to toxins --just be careful " as they do with PKU babies who can't have aspartame etc.

Ann Benson

Yes, every child born or unborn has a possibility of becoming autistic, especially if they have large heads and prominent foreheads. Whatever are we to do?

I have a solution. Let's not vaccinate any children and let's feed them organic, non GMO food. Never give your child formula with GMO soy and don't let them drink fluoride water. Let's experiment and see what happens.

Jeannette Bishop

If I interpret the table correctly 12 of the cases concerned had de novo mutations. The most benefit from these studies linking mutations to autism seems to be the demonstration that many with autism or possibly their parents have been exposed to something genotoxic. Identifying and preventing such exposures to protect the genetic integrity of the race would be the paramount focus in a society governed by sanity, I would think.


Really! This is so pathetic: 15 out of 6,176 children have a particular gene issue. Uh, don't be fooled. Anyone who knows anything about genetics knows that you are going to find at least 15 out of 6,176 people to have the same gene mutation on all kinds of mutations. Unfortunately, most don't know this, and fall for it. I'll bet researchers look at this study and go, "Wow, I can get research money for this type of research, which is easy to do. Let's get going."

"The study, titled "Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development," followed 6,176 children with autism spectrum disorder for nine months. Researchers found that 15 had a CHD8 mutation and that all of those cases had similar characteristics in appearance as well as issues with sleep disturbance and gastrointestinal problems including constipation.

Read more:"


I dont think doctors will ever recommend genetics screening for parents worried about vaccinating. In fact I think they already know there is a sensitive subset of kids (based on family history of disease) yet they refuse to prescreen these kids. Sadly, I think our kids are being sacrificed for the greater good which explains why they are so interested in collecting autism families genetic information. Our kids have what they deem as "weak genes" and they dont want those weak genes passed on. Eliminating weak genes from the gene pool makes for a more fit, less disease prone population you see.

My ultrasounds were normal and the nurse said "this baby is golden" to the doctor during the ultrasound. After my son regressed at age 2, I took him to a neurologist who recommended a genetics test called a chromosomal microarray. They found nothing unusual. So why did he regress into autism??

I believe part of the answer lies in our kids mitochondrial DNA and that there are hidden defects in the mtDNA that can be triggered by environmental stressors (vaccines). In fact UC Davis researchers recently confirmed that many of our kids have an underlying mitochondrial dysfunction. I ran into resisitent from the neurologist to get him to test my so for mito problem but he refused.

NEWS | May 8, 2014
Study confirms mitochondrial deficits in children with autism


It has been stated that 90% of Down's Syndrome cases end in abortion.

With the bs of 300 to 1000 genes "suspected of causing" Autism, they will soon be able to say "yup, looks like Autism" to anyone who walks into a clinic and takes a genetic test.

That will be the only "magic gene therapy" that they will come up with.


Why shouldn't we have a test to determine if our child is at risk for autism? They have it for for other disabilities such as down syndrome. Maybe the purpose could be not about aborting these children but saving them by not vaccinating. Many anti-vaccine groups tell you not to vaccinate if your childs head has rapid growth in the ultrasound and during head circumference tests. My son had both and I welcome any tests that might forewarn people not to vaccinate.


from the article: "This is a big leap forward in our insight into the causes of autism," said Bernier, who led the study published today in the scientific journal Cell. "It's possible we may be able to look at features in utero and determine a higher risk of autism, possibly even early detection."

- if the above statement isn't a red flag I don't know what is.

Over the several years, geneticists have been busy collecting DNA from autism families and that information is being stored in a huge database for future use. According to Autism Speaks, this genetic information could be made available to researchers globally to access via the Cloud to conduct research.

A few years ago, I was approached by someone in the genetics division at Boston Children Hospital and asked to have my family participate in the Autism Genome Project. Blood samples would be taken from, my husband, me and my son. I was told the genetics test results would not be shared with us nor could BCH guarantee who would have access to my families genetic information or how it would be used in the future. On hearing this, my thought was? So what exactly does my family gain for participating? NOTHING. other than some altruistic feeling of contributing to the so called greater good of mankind (translation: help us clean the gene pool). Supposedly that should inspire me to participate. Nope. No. No thanks.

The other thing that bothered me is who would have access and how will my families genetic information be used. I would have no control over that. In fact corporations around the world could profit from my families genetic information and use it to screen out (abort) at risk babies. Again. Nope, no. no thanks.

"Autism Speaks & Google Harness ‘Cloud’ for Genomic Breakthroughs"


I keep saying that genetic screening for autism will never come to fruition and here is further proof:

The study, titled "Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development," followed 6,176 children with autism spectrum disorder for nine months. Researchers found that 15 had a CHD8 mutation and that all of those cases had similar characteristics in appearance as well as issues with sleep disturbance and gastrointestinal problems including constipation.

So of 6,176 autistic kids, only 15 had this gene mutation? That's a incredible, measly .2%. These researches have been going at it so long, spending billions of research dollars only to detect countless genetic factors that are often extremely weakly tied to autism. This ridiculous situation should serve as absolute proof that autism is not a genetic condition. Finding genetic traits for aborting autistics, at this point, appears to be merely wishful thinking.

Jenny Allan

Oh dear!! Dr. Raphael Bernier's research is stated to have identified a gene which is associated with -" physical traits – subtle facial features, such as larger heads and prominent foreheads".

My family's 'Wakefield Babe' has neither of these features, nor have I encountered any other 'large headed' autistic children, other than those whose(perfectly normal)parents also had large heads.

The message is clear. Potential parents with large heads and/or prominent foreheads beware. You might be pressurised into aborting your unborn children.


Scary shit indeed! Obviously the focus here is on early identification for no other reason than to abort. What a sick world we live in. Very sad.

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