Is the Age of the Father a Risk Factor For Autism?

A recent article published in The Washington Post, as well as a related article published on the Nature

website (and in the journal Nature) both discuss a recent study which has found the older a father is, the greater chance they will pass on genetic mutations to their children.  This means as the father ages, there is an increased risk for certain types of mutations, and as such an increased risk for conditions such as schizophrenia and autism.

The study itself is interesting, and it seems to confirm what others have said about de novo mutations in the past, but it is hardly conclusive and nobody should be proclaiming anyone has found the cause for autism.  This is but one more piece of the puzzle, but it is nice to see scientists and researchers continuing to search for the root cause(s) - and making progress.  

This new research coupled with previous research pertaining to the weight of the mother during pregnancy, and other studies which show a strong genetic component may not be a smoking gun per se, but they are helping to shine light on the root cause.

The question remains - will antivaxxers start to acknowledge the science that continues to show these many genetic factors contribute to conditions such as autism, or will they once again ignore the studies since they don't align with their views?  Will they again try to claim vaccines are the biggest factor leading to autism even though they have no studies showing such a link?  Will they start trying to back-peddle and claim that vaccines in adults are causing genetic mutations which are then passed on to children?

The reality is, we don't have to guess because organizations like Age of Autism have already gone out of their way to minimize the study as they attempt to place blame upon environmental factors rather than genetics.  In Robert Krakow's article entitled, Paternal Age Study Implicates Environment Not Genes, Krakow immediately switches to defense as he claims "there exists no explanation how de novo mutations relate to autism" within the study.  Krakow might be right, but that is because that subject has been discussed elsewhere - it is not included within this particular study.  It is background data that wasn't central to what the study is about, and Krakow is merely using this as a smokescreen.

So is the absence of background scientific data enough to claim the study suggests environmental factors are the true cause rather than genetics?  According to Krakow... yes - as he writes: "rather than showing that autism or schizophrenia may be primarily genetic, the paper supports the argument that the significant operative variables are environmental".

Putting aside the fact that Krakow seems to have reached conclusions that the authors of the study did not, this is one of the problems that exists when you present science to those with predetermined viewpoints.  People like Krakow aren't about to let the science guide them, but rather they engage in confirmation bias and selective reporting because they are convinced vaccines are the one and only true cause to autism and as such everything else needs to be ignored.

Granted Krakow isn't a scientist, nor is he a researcher, nor is he even a journalist.  Krakow is actually a lawyer who just happens to specialize "in the representation of individuals injured by exposure to vaccines".  Thus it stands to reason why Krakow would prefer that science not suggest that genetics are to blame for autism... because that would make it much more difficult for vaccine lawyers like Krakow to win their cases and it would be a direct hit to their incomes.  

Antivaxxers are always quick to pull out the "big pharma profit" gambit when they are presented with something they disagree with, but it sort of makes you wonder why they seem to feel lawyers who profit from "vaccine injury" cases can be considered to be unbiased when it comes to reporting the facts surrounding scientific studies.  There doesn't appear to be any financial incentive for the authors of this study to suggest de novo mutations are the contributing factor, yet there is a clear financial incentive for vaccine lawyers like Krakow to deny it.  Who should we consider to be unbiased here?

Whether you agree or disagree with the conclusions of the study is one thing, but for those who are honestly interested in finding the root cause(s) of autism they owe it to themselves to look at every study from an unbiased perspective.  This doesn't mean they automatically need to agree with the authors nor do they need to accept every conclusion at face value, but they also should not rush out to attach the study unless they have science and facts that show the study's conclusions to be in error.  In this case, it seems antivaxxers are much more interested in circling their wagons to protect their views than they are in learning... and I find that incredibly disappointing.

Full Washinton Post article here:  Children of older fathers may be more at risk of autism, other disorders

Full Nature Article here: Fathers bequeath more mutations as they age

The actual study on Pubmed:  Rate of de novo mutations and the importance of father's age to disease risk.

Autism Linked to Inherited Gene Mutations

Per a recent ABC News article, "[...] many scientists agree that the growing autism numbers may in part be attributed to certain genetic mutations that are most likely inherited from the father, according to the combined findings of three studies published Wednesday in the journal Nature.

The studies are the largest to date to use whole-exome sequencing, which decodes the protein in both children and their parents, an arguably more precise method of detecting genetic mutations in multiple genes that may be associated with autism.

The findings from one of the studies supports mounting evidence suggesting that the older the father, the higher the chance the child may develop some form of autism.

In another study, researchers who compared siblings with and without autism found that the sibling with autism had two different mutations of the gene SCN2A.

Genetic mutations found in the child with autism that were not found in either parent are likely not associated with autism, one of the studies concluded."

The full ABC News article can be found here:  Autism Linked to Inherited Gene Mutations, Particularly From Dad

A similar New York Times article referencing the same studies can be found here:  Scientists Link Gene Mutation to Autism Risk

And the studies can be found here (note registration is required to read some of the full studies):

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Patterns and rates of exonic de novo mutations in autism spectrum disorders


Please don't misunderstand these studies, the articles, or my comments.  This data does not prove a root cause of autism and there is much, much more work to be done.  However these studies do show us a link, and finding more and more of these links coupled with determining other risk factors can lead us to the true cause somewhere down the road. 

Studies like this are crucial if we wish to find the true root cause of autism, however you aren't about to hear many antivaxxers talking about them because any discussion which surrounds genetic risk factors reduces the chances that their vaccination fears are justified.  The reality is we see more and more autism research coming out almost on a weekly basis, and to date none of it has ever shown a link between vaccines and autism.

Perhaps it is time some of these antivaxxers such as Lowell Hubbs started to pay attention to this research and modify their hypothesis.  Rest assured I don't suspect that will happen, but the more data and research that we have on the subject, the more foolish these antivaxxers look.  I can only assume it gets tiring for them to keep developing new and clever excuses to explain away the mountains of evidence which fly in the face of their "vaccines cause autism" unsupportable theories, but true to form you can expect them to slide the goalposts yet again as they try to spin this in their favor.

Antivaxxers are nothing if not consistently misleading and flat-out dishonest.

Even More Evidence to Suggest Autism is Genetic

Back in July I wrote a post that pointed to a few studies which suggested Autism is primarily caused by a genetic component but also to a smaller degree can be brought on my environmental factors.  In one of those studies the environmental factor examined was usage of antidepressants, which were found to have an effect if a women took them during pregnancy.

It seems that the subject of Autism is a hot topic right now, because I have just reviewed several additional studies on the subject all of which show a strong genetic component to Autism as well.  These studies were all published in the journal Neuron on June 9th, 2011.

The first study is entitled "Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders".

The second study is entitled "Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism".

The third study is entitled "Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses".

These studies were all performed in collaboration with the Simmons Simplex Collection (SSC) which is a core project and resource of the Simons Foundation Autism Research Initiative (SFARI).  SFARI is a private organization involved in multiple aspects of Autism research and contains a Scientific Advisory Board which is filled with prestigious doctors and scientists from Universities such as Columbia, MIT, Duke, and Harvard.  Obviously if you wish to know more about them I urge you to review their website, but I mention it here because vaccine conspiracy theorists tend to ignore any data that has any connection to the CDC, FDA, WHO, or any other government agency, thus I thought it fitting to mention who SFARI is to ensure it is clear they are not just another rubber-stamping government agency.

The bottom line is these are reputable peer-reviewed scientific studies which point to a strong genetic link to Autism.  I realize that the concept of peer-reviewed science is often difficult for a vaccine conspiracy theorist like Lowell Hubbs to understand, but the bottom line is these are three different studies all of which have been published in a very reputable journal, and as much as Mr. Hubbs may like to pretend Neuron is somehow biased or is nothing more than a shill for "big pharma" or the vaccine industry, I'm afraid that isn't the case.

I suppose Mr. Hubbs will simply discredit these studies by suggesting all of the authors and members of Neuron's editorial board are biased or that they have been paid off etc, but when you consider there are over 100 experts on the editorial board, and several dozen authors not to mention the scientific editors, managing editors, reviewing editors as well as various directors and manages involved... well that seems like quite the conspiracy theory to suggest that all of these people are somehow in on the little shell game.

So what do these studies tell us?  Well according to John Timmer over at ARS Technica, the two studies that examined CNVs (copy number variations) "...found slightly different numbers, but the same general trend: new CNVs (deletions or duplications that are not present in either parent) are much more common in autistic children than they are in their unaffected siblings. One study found that they showed up 3.4 times more often; the other showed 3.9 times. In either case, there were many more changes in the dose of genes among autistic individuals. Moreover, most of these changes are rare, showing up in only one or a few individuals. This low frequency implies that, with a larger population, even rarer CNVs would be uncovered. The statistics are such that the authors estimate that there may be several hundred potential sites in the genome that could be linked to autism."

Timmer goes on to explain that the third study focuses upon what these CVNs do which primarily surrounds the formation of synapses etc in the brain.  This helps understand what the effects of Autism actually are and could potentially lead to additional research to counteract those effects down the road.

Now it needs to be stated that these studies are not suggesting Autism is always caused by a genetic component, and they even go on to state that there can be environmental influences.  However it is clear that as more and more research is performed, it seems the common conclusion is the genetic component which means those that tend to blame vaccines for Autism (such as our very own Lowell Hubbs along with the long discredited Andrew Wakefield as well as pseudo-celebrity Jenny McCarthy) are looking more and more like the fools they are each and every time a new study is released.

So how many peer-reviewed studies have been published thus far which have been able to even so much as identify a link between vaccines and autism?  Once again... the answer remains zero. 

Science wins.  Vaccine conspiracy theorists lose.  Again.