Prenatal Screening Tests for Autism

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http://www.smh.com.au/national/health/prenatal-autism-test-may-deliver-ethical-questions-20120827-24wok.html

It is interesting that two similar studies, one in Australia discussed above, and another in the US funded by the National Institute Health were announced September 27 and 29th, of last year, as linked below.

http://www.ucdmc.ucdavis.edu/mindinstitute/research/earli/index.html

http://childhealthresearch.org.au/our-research/projects-index/p/pregnancy-investigation-of-siblings-and-mothers-of-children-with-autism-%28prism%29.aspx


The results will not start coming in until 2015, and after, for these two current longitudinal studies. Levels of hormones may be the highest predictor as prenatal testosterone and verbal delays in males have already been linked by Whitehouse and other Australian researchers in another study linked here:

http://www.medpagetoday.com/Pediatrics/GeneralPediatrics/30890

As Whitehouse relates his concern that some might use the potential findings of this current research that may lead to a prenatal screening test for selective abortion, there was also recent research from a huge study linked below, that suggests that stress events experienced in the prenatal environment that has been associated with higher levels of prenatal testosterone, were not significantly associated with ASD's, which counters Samuel Baron Cohen's theory of the Extreme Male Brain and Autism.

http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0038893


But, so far, Whitehouse's recent research linked above on the actual levels of prenatal testosterone provide a potential indication that this factor could be associated with male individuals on the spectrum with verbal delays. The referenced research, linked above from the current Australian and US research, could provide a distinction among those in this identified subgroup of individuals with verbal delays on the spectrum.

And finally, there is a fairly recently developed (CMA) Chromosomal Microarray prenatal test done through amniocentesis that is currently being used in high risk pregnancies, that detects genetic anomalies associated with about 150 different associated disorders. It detects genetic anomalies associated with fragile X syndrome, that is a causal factor identified in 2 to 6 percent of ASD's, as well as a gene deletion that is associated as a causal factor in 1 percent of the cases of Autism.

A potential concern is that the gene deletion/duplication has been identified in a group of individuals studied with ASD's at rates as high as 20%, but there is also the potential that people without any symptoms of Autism, have the same gene deletion/duplication. It is important that professionals explain this distinction to their patients.

The causal association of 1 percent is the same for schizophrenia and autism associated with the gene deletion/duplication.

Details at this link:

http://sfari.org/news-and-opinion/news/2012/more-sensitive-prenatal-tests-detect-autism-linked-variants

i had never heard the fragile x chromisone assosiated with schizophrenia.
i dont know if it matters whether a prenatal for autism is developed because your either against abortion or your not.prenatal testing is just a tool people can use to make that decision but its the decision that ultimately relevent.should we ban cars to prevent deaths by car accident.

to quote a much over used cliche:

prenatal tests dont kill disabled babies,doctors with small vacuum cleaners do

The gene deletion/duplication associated with Autism and Schizophrenia, that I was referring to is another genetic factor that is separate from the genetic anomaly associated with Fragile X Syndrome. However, it is also possible that some individuals with fragile X syndrome may also have that separate gene deletion/duplication discussed in the article.

ok your always way above my head,i dont doubt you.

also rick santorum spoke against disabled abortion at the RNC tonight and a woman running for governor in delaware spoke about her autistic son who just graduated from college even though the curebees said he would never have efective communication

Two decades, ago before research progressed to provide enhanced adaptive communication technologies to provide the potentials that exist today, the potential to adapt for success in college wasn't the same as it is now. And, it is often that individuals with all types of medical/health conditions exceed the expectations of those that provide a prognosis of their conditions, even without the adaptations provided by modern research and technology.

A definitive cure for all autism spectrum disorders is understood by all reputable advocacy organizations and research scientists as highly unlikely per the current state of scientific knowledge that exists on autism spectrum disorders. The modern definition for the phrase a search for a cure for autism, is equivalent to the complex research that continues that is intended to improve the potentials associated with the lives of those across the spectrum as well as for those in the future that may find themselves on the spectrum.

It would be just as well to leave the word cure out of it, for some, as it provides a continued source of confusion, and discontent, for some. I think Autism Speaks might be able to do that at some point in the future, but I don't ever expect mainstream media sources to avoid the use of the emotional charged hope, that that the term cure brings to the discussion for many in the general public, as well as for many in the broader autism community.

http://www.foxnews.com/scitech/2012/08/28/prenatal-whole-gene-sequencing-raises-thorny-ethical-questions/

Per the link above there is a much larger issue brewing in the world of prenatal testing, as the prenatal whole-gene-sequencing test looms, as an almost certain eventuality. While it won't provide any more conclusive results that what is already genetically understood about autism spectrum disorders, the ramifications from everything from heart disease, to stature of size, can potentially be assigned risk factors, in a decision for selective abortion, as well as many ethical concerns associated with this eventual optional whole genome prenatal test that will be accomplished through a blood test instead of invasive procedures required with the CMA prenatal test, identified in the topic post.

[youtube]http://www.youtube.com/watch?v=ZppWok6SX88[/youtube]

TheSunAlsoRises

I'm of the opinion, that while this perhaps is a goal for some through the ideology of modern liberal eugenics that one sees as a natural process in the animal kingdom, modern culture provides a type of negative eugenics that is both beyond conscious control as well as not fully understood per the fuller ramification of the scope of the issue.

While it's often reported that individuals on the spectrum are the canaries in the coal mine, per the larger scope of the issue, I think it is children, in general, who are more often the canaries in the coal mine as they present clues of the impact of the cultural activities of the generation preceding them.

The statistics of close to 25% of teenagers ages 12 to 17, bordering on or diagnosed with type two diabetes lends at least one clue well beyond the overall cultural impact of autism spectrum disorders, at around 1 percent of the population. But, those two factors are at least in part associated with each other as well.

The image of gattaca one sees in culture is a plastic one with implants, steroids, orthodontics, and all the enhancements toward the goal of cosmetic perfection. And, I don't think that selective abortion will ever result in anything close to effective liberal eugenics population wide, as birth control, in general, provides one the opportunity not to reproduce at all, to focus on the survival and success of the individual.

And now there is also virtual gattaca on social networking sites, where people can choose to never age, always look happy, and continuously enjoy vacations, forever in a cyberworld, as long as there is a back-up source hooked to some type of power grid.

In a world where perfection can be a virtual goal, I have a feeling that a $1000 whole genome prenatal test that will provide exposure of potential imperfections, not only in a child but in prospective parents as well, is not going to be a very popular option, unless there is evidence of a high risk pregnancy, not even if some were forced to take the test for free and look at the results.

I think it is a horrible thing, but it presages a future where you can order a child through an agency who will provide you with a child with all the right details, down to eye and hair color. No more redheaded children! Imagine a world where you don't have to deal with the inconvenient details of having a child that is not 100% perfect. Want a child who lets you sleep through the night as a newborn? Just check the right option box on the order form. No more pesky diversity either as it will all be weeded out before birth and all children will grow up happy and alike and genetically predisposed to accept whatever programming the corporate state wishes to give them. Thus, no more crime or annoying independent thought either. It will truly be a dystopia worth of the best writings of Aldous Huxley. In the end, we will have groups like "Eugenics Speaks" to thank for this perfect society with no autism, no creativity and no one to complain about it.

[/sarcasm]

While part of this, although noted as sarcasm, might eventually be a goal, it would be an impossible effect to achieve with autism spectrum disorders unless one also had complete control over the environment, as environmental factors alone could be the causal factors associated with epigenetic/developmental changes resulting in some cases of Autism Spectrum Disorders. Recent research in a much larger twins study than was accomplished in the past, already provides evidence of the strong influence of environment.

Humans do not have and will never have the ability to completely control environmental factors, as humans are not capable of understanding all the factors involved or the synergistic effect of multiple environmental factors.

While one might be able to order up a blue eyed red haired child, there is little potential of avoiding the possibility of a child that may end up with an autism spectrum diagnosis, as it is clearly not a disorder determined by genetics alone.

The only significant potential of this would be with a non-organic child, which might be desired by some because people can and do get attached to inanimate objects, if technology can provide this product. Or, unless society no longer decides to diagnosis individuals with autism spectrum disorders or if for whatever reason the human species ceases to exist. And even if that happens autistic like traits will continue to exist among other social animals that survive a hypothetical human extinction event.

Cultural programming is alive and well, increasingly effective as time goes on, and gaining a mind of it's own, beyond direct human control. And very likely, at least in part, a significant factor that leads to an actual diagnosis for some individuals on the spectrum, particularly as such, considering that an autism spectrum diagnosis is itself a cultural construct.

And already, also in part, providing the potential of a reduction of human creativity during the course of one lifetime, among other virtues like patience and tranquility, and even the lifeblood of a healthy society, human empathy.

If the programming could be clearly measured by intent or receipt, there might be a place to securely place one's foot on the brakes.

the point i was trying to make is that to those who endlessly whine about how all the world wants to do is cure autism,that there are people who see the good in autism

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One scenario:

With technology of this nature, everyone will not have access; it will be privy only to those who can afford it(most likely the wealthy and the privilege). Man is always looking for an edge and IF technology of this nature can provide it to his offspring and himself; he will use IT.

Now, what the general population will have access to, will be very limited services or none at all, as usual. They will be faith birthers (no genetic engineering done) primarily by circumstances and not by choice.

Another scenario:

Autists who are 'passing' are already taking precautions as IF they already have been genetically engineered. The preparation done to 'fit' in society while NOT as drastic and extreme does have stark similarities. The whole ideal THAT a person has to be something other than himself or herself based on society's total reliance on science to predict the human condition resonates throughout the movie.

TheSunAlsoRises

Thanks, I share that observation.

I agree that a limited number of people will use the technology when it is available.

However, I suspect that the result may be that those same individuals have even less children as a result of seeing the results, as is already the case for those of privilege and wealth that choose to have children later in life, to afford the opportunity for career success.

The "faith birthers", overall, will likely have more children, that are more likely to reproduce, as well as having a better opportunity to reproduce at an earlier age, with a lower potential of natural mutations that happen later in life in the reproductive process.

The genetic engineering aspect, while a likely eventuality is still far off in the future.

As one born in the 60's I can identify with the requirement to adapt to the social norm, however the social norm is becoming more of one associated with autistic like behaviors, as the requirements are longer nearly what they used to be in face to face interaction, in day to day communication.

So, while it is likely that more people in the general population have fewer face to face interaction skills as a result of not practicing them as much from a young age, those with the genetic/developmental predisposition toward these difficulties have less opportunity to adapt as well.

How much of what we see as diagnosed autism spectrum disorders, particularly those diagnosed at a later age, where the presence of the symptoms are not required from childhood, per current diagnostic criteria associated with some ASD's, as it relates to the factors associated with the changing social requirements, has not been provided much research attention, as the lion share of research continues to be directed at Autism Spectrum Disorder, as a neurodevelopmental disorder identified from early childhood.

The DSM5 if actually used by the diagnosing professional per the new guidelines that exist, effectively cure many Autism Spectrum Disorders, that currently have been diagnosed.

In 1994 when an editorial mistake in the DSMIV allowed one of the triad of impairment categories for a diagnosis was sufficient to gain a PDD-NOS diagnosis, a similar impact was felt, as there were potentially people diagnosed without any social-communication difficulties, who were only observed as having Restrictive Repetitive Stereotypical behaviors.

When the DSMIVTR revision came out in the year 2000, and the requirement for 2 out 3 of the triad of impairments was re-instituted, those diagnosed with 1 of 3 per previous 1994 required criteria were effectively cured as having what they were previously misdiagnosed with. With the requirement of 3 out 3 of the triad impairments in the DSM5, those with 2 out 3 of the triad requirements currently diagnosed are effectively cured of an ASD, and potentially re-diagnosed with Social Communication Disorder, or another potential disorder.

The DSM organization alone has almost complete control in the US, as far as what is identified as ASD's and who is or isn't identified with ASD's, even when they make editorial mistakes.

The DSM organization has the power to provide the definitive cures for what they own the copyright to, the diagnosis of autism spectrum disorders, in the US.

I suspect the 1 in 38 overall scanned number of ASD's in South Korea among school children, was significantly associated with technology and adaptation to human to machine social interface instead of face to face interface, as South Korea leads the world in human to machine interface, and technology, in general.

An actual professional diagnosis of an Autism Spectrum disorder in South Korea is still reported as an overall stigma in that society that is avoided. However, in effect, human to machine social interface is becoming the norm there, as it is in Japan. The same social stigmas associated with diagnosis of psychiatric related disorders exists in Japan; the difference is no scans for ASD prevalence, but the clues are even greater in Japan than the US, as to what the future may hold, in other Western Developed countries, as it has become a country that has moved so far out of the realm of face to face interaction, that close to half the young population has no desire for human to human sexual relationships, a society of more aggressive women and passive males spending more time on self-grooming skills along with time spent with machine social interface.

The analogy to the behavioral sink experiment in 1968 in a study of overcrowded conditions on the behavior of rats, also known as the "beautiful ones", in regard to male rats that became more passive spending their days grooming themselves maintaining a more youthful appearance, while the females became more aggressive, is eerily similar to what is happening in Japan, in a new virtual sense that is not a factor that can be studied in animal behavior. That is part of the problem, in studying it in human beings, as there is not a short cut in preliminary research to study the behavior in animals, as they do not participate in machine social interface.

http://en.wikipedia.org/wiki/John_B._Calhoun



http://www.foxnews.com/world/2012/05/11/lack-babies-could-mean-extinction-japanese-people



While this issue isn't as evident in the US, the frequency of teen sexual relations as well as teen pregnancy has been dropping for the last couple of decades, particularly in the last decade.

Overpopulation has been something that humans have adapted to quite well as long as the resources were plentiful, but the machine human social interface provides an alternate approximated avenue to fulfill the need for contact with others, that does not require the same skills that have been required, up until the last few decades.

While Birth control and Abortion provide the potential for liberal Eugenics, as well as the advancement of prenatal testing, it appears that the factor of human machine social interface, is another factor that is not well understood that influences the overall phenomenon.

Japan has a real problem as diaper sales for adults are exceeding those for children. Birth control and abortion has provided an answer for population control, but it appears there are other factors that are serious issues, as a modern society must have a younger healthy generation to continue a successful society. If it was not for immigration in the US, this problem would be a much larger issue, and while the idea of immigration is a hated one in some European countries, those that seek greener pastures, and continue to reproduce are the ones left standing at the end of the game.

Thirty years ago, the thought of human beings in an entire country losing interest in sex with other human beings, was not in the realm of possibility in my mind. Cultural evolution is becoming much more powerful than human evolution. And the DSM5 expanding definitions of disorders, appears to be a reflection of this, as human beings are living in a world that they are not physically adapted to per the slow process of classic evolution. An interesting phenomenon where the bottom line is still focused on those that can adapt and have success in reproduction.

However, those that do not reproduce can contribute greatly to those that do gain reproductive success, as long as a balance is maintained, that appears has been at least temporarily lost in Japan, and warrants serious research, as there is only old classic rat experiments and speculation at this point as to why it is happening.

And speaking of the rat experiment, cannibalistic behavior was also noted in the article, which also brings some interesting analogies to the recent "global", "zombie apocalypse" phenomenon.

As always, change is interesting, mixed in with primate behavior and culture.

Your replies are always detailed and informative. I appreciate them. Thank you.

Interesting. The focus has been on genetics, brain development, environmental causes outside socialization, and biology. I think in 'developed countries' investigation into a cultural shift, adaptation to human machine social interface, warrants studying especially IF ASDs are diagnosed far less in undeveloped countries.

IF you think about IT, a large extended industrial and manufacturing family, had enough people around to engage a child or adult in scheduled systematic work and play. In other words, what we today term as ABA therapy(hours of language, social, communication, and behavioral therapy) was occurring in a naturalistic setting as a function of culture.

Something to ponder further....

TheSunAlsoRises

I didn't speak until I was 4, and wonder if I would have made the effort If I had a TV before the age of 7, as TV soon after that became an integral, but limited part of my reality, as well as a medium that was still very limited in scope of what was portrayed, censored in a deliberate way to provide a positive diluted message of reality for the audience.

The first violent movie I ever saw was the movie Jaws at about the age of 16, I can remember the disorientation I felt coming out of that movie. And "I dream of Jeannie", was as about as much skin as one could view on TV, as a younger child.

I can remember the "Planet of the Apes", at about age 9, and my first personal questions about reality and existence. But, sex and gore, was not something I was exposed to until age 16.

I don't think I would have ever spent years in childhood with neighborhood kids outdoors or walking the beaches as a teen and young adulthood, completely fulfilled for just being alive and part of nature by myself or with several neighborhood friends, if there were an option of broadband high speed internet access, a 50 inch high definition TV with a thousand channels, with images changing like fireworks on average every second.

I'm glad I did not have the option of trading the beach with video-games and online pornography, as I seriously doubt I could have felt the same nuance of bliss I found in nature, along with the ability to appreciate the complexity of the natural stimulation provided by a sunny day, a breeze, mesmerizing sound of waves, and the feel of the ocean water as home.

I think that is what it means to be human, and I was able to continue this experience working with the public for almost two decades, in a place where people wanted to be, as that experience of the balance of nature could still be found in other human beings.

I found the ability to adapt to connect with hundreds of people a day, but rising further in an organization, becoming a slave to a computer screen all day every day for 5 years, took something from me, that I have not been able to regain. I remember going back to that beach, no longer being able to feel the nuance of nature, that I once felt.

What I wonder though, do children born today, ever have an opportunity to feel a similar bliss and tranquility just for being alive.

I have a 17 year old cat that spent most of his life outdoors, and has recently been invited indoors, that slept awhile inside, but soon even though frail, chose outdoors lying in the grass in a moonlit night over a comfortable couch and climate control. Another cat who never experienced the outdoors, only moves when it is time to eat, and is terrified of being outdoors.

The outside cat is still part of something that I lost along time ago, that my Aunt who recently passed away visibly experienced well into her 90's. One could see it in the twinkle of her eyes that no longer had good vision, as she sat outside on her porch.

I'm glad I had the opportunity to be an "outside cat" during my youth, as well as having no choice but to personally interact with thousands of people during my working career. But, I can't imagine doing that now, or enjoying it.

The human machine interface provides an extreme amount of stimulation in many different avenues, but, perhaps cannot replace the nuance of what has been understood as the human experience for over a million years, where every leaf and blade of grass generates both emotion and meaning. And, even delight in one quartz grain of sand that one finds between their toes after a day at the beach.

And finally, where is the point of reference, if all one has known is machine human interface during the course of their life. At age 3, before I could talk, living on the river, looking across the river, at the treeline, I felt like I had been here forever, completely at ease with my surroundings; I had no inner voice at that point to describe it, just a full sensory experience of existence, that I had already indirectly experienced through millions of years, as there was never a clear break of the chain of events from me and my ancestors and before that point that resulted in my existence.

I can't help but to wonder if that human machine social interface interrupts those chain of events, producing a novel type of human being, that has never existed before, with no clear understanding or perception of the context of where they are.

I am one hundred percent sure I was born on the right planet, but that planet is no longer effectively the same, as I no longer have the ability to perceive it in the same way.

For me the adaptation was a struggle but a rewarding one. But, I feel almost sure that if I was born today, I would have ended up without the ability to adapt at a very young age, not necessarily because of people, but at least in part, because of the human machine social interface, provided now, that did not exist then.

I can remember wishing for a machine that would answer all my questions in life; but looking back I'm glad I had no choice but to rely upon imagination with no clear answers for decades.

The ability to feel the nuance of magic in life, is taken away, in part, when one learns there is no Santa Claus, at least when I was growing up, and naivety protects one from the full extent of reality and anxiety, that is provided now as hyper-reality, something I did not fully experience, until I saw the movie Jaws.

The effect to those with a similar neurology that I was born with, I think, potentially results in "Autistic burnout" in one's teens or twenties instead of one's forties or later. At least, from some of the stories that I have read here. In that sense there are some likely on the spectrum that play a role as the canaries in the coal mine.

The good news is that when one is young, before they find themselves in the workplace and slave behind a screen, there is a simple option, turn it off, but it doesn't appear to be a realistic option, once one has been indoctrinated and adapted to a way of life centered around a human machine social interface.

The tools that human beings use become a cognitive extension of their being, a recent finding in science, but common sense. Part of why people take such good care of their cars, and are willing to spend so much time virtually connected to devices that can provide so much stimulation 24/7 365 days a year. They are incredible tools that have become a cognitive extension of the reality of human existence. I have to admit I have enjoyed them, but am glad I was introduced incrementally instead of served a full portion, shortly after birth. I suppose those that continue to adapt to what is will continue to adapt.