Genetic Signature for Autism Found!! !

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ruveyn
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08 Aug 2013, 7:22 pm

benh72 wrote:
I couldn't believe my eyes when the ticker tape announced this story on one of the morning news programs as I was having breakfast.
I've copy and pasted below, but I'm sure there will be lots of other stories and info on this soon.
Within years it may be possible to screen for Autism with a simple blood test!


http://www.news.com.au/technology/sci-t ... 6693188756


That is going to require a lot of work to verify. All they have right now is a possible maybe.

ruveyn



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08 Aug 2013, 9:27 pm

Jumping ahead, there is already a Downs Syndrome blood test for pregnant mothers that avoids the need for amniocentesis of the developing baby in utero.

I envisage the same type of maternal blood test may be possible for autism which paves the way for mothers to abort their pre-autistic fetus much like they do with Downs.



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09 Aug 2013, 8:46 am

About the abortion thing. It would probably happen in some cases. Particularly in India where they already do a lot of abortions for gender selection.

But culture plays a role in ensuring that it would be extremely rare in other places, too.

The 4 out of 5 babies aborted idea is pure fantasy.

I took my wife and me some time to conceive a child. Then we found that we were having twins. Because of a number of risk factors, they recommended amniocentesis. If you think this is a bad idea, I can only assume you have not researched anencephaly or related issues.

In any case, we had plenty of time to think about what we would do if there was bad news.

I can tell you that only if the results had pointed to something severe, like anencephaly, would we have considered abortion. This is personal anecdote, and therefore not any kind of useful data, but I don't think it's unreasonable to assume that other parents would have similar feelings.

If they had told us, "Mr. And Mrs. Adamantium, there's a good chance the children will have autism, much as you do yourself, Mr. Adamantium." There is exactly zero chance that we would have considered aborting.

Increasingly sophisticated genetic knowledge and technique will inevitably bring eugenics back as a topic in general consideration, but mass abortion is an Improbable fantasy.



Jayray
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09 Aug 2013, 8:51 am

Don't think they will manage to find out what genes are involved and how they are working together.

But if they do find out .... what will they propose to do with that knowledge?



Adamantium
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09 Aug 2013, 9:11 am

Did you read the story?

This is exactly what they have done. Until we get more detail, further speculation is probably not productive, but identifying the genes, networks of genes and the expression in development is what they claim to have done with this research.



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09 Aug 2013, 9:28 am

Adamantium wrote:
About the abortion thing. It would probably happen in some cases. Particularly in India where they already do a lot of abortions for gender selection.

But culture plays a role in ensuring that it would be extremely rare in other places, too.

The 4 out of 5 babies aborted idea is pure fantasy.

I took my wife and me some time to conceive a child. Then we found that we were having twins. Because of a number of risk factors, they recommended amniocentesis. If you think this is a bad idea, I can only assume you have not researched anencephaly or related issues.

In any case, we had plenty of time to think about what we would do if there was bad news.

I can tell you that only if the results had pointed to something severe, like anencephaly, would we have considered abortion. This is personal anecdote, and therefore not any kind of useful data, but I don't think it's unreasonable to assume that other parents would have similar feelings.

If they had told us, "Mr. And Mrs. Adamantium, there's a good chance the children will have autism, much as you do yourself, Mr. Adamantium." There is exactly zero chance that we would have considered aborting.

Increasingly sophisticated genetic knowledge and technique will inevitably bring eugenics back as a topic in general consideration, but mass abortion is an Improbable fantasy.


I absolutely agree with your reasoned predictions. Given the knowledge, some people will abort. Others will not because they have drawn the line on where to abort in different places, much like you and your wife. I strongly suspect that length of time to conception will be a factor too. If it took a long time to concieve that probably weights the decision away from abortion except in very dire circumstances like anencephaly. Then there are people who would not abort regardless, generally for religious reasons. Thus was Trig Palin born, the son of (U.S.) conservative politician Sarah Palin who did not abort him (possibly against medical advice) although amnio showed he had Downs Syndrome.

In order to predict what would happen if pregnant women become able to selectively abort autistic babies, looking at Down Syndrome births is probably the best thing to do. What happened with there would likely be the same.

Quote:
The weighted mean termination rate was 67% (range: 61%–93%) among seven population-based studies, 85% (range: 60%–90%) among nine hospital-based studies, and 50% (range: 0%–100%) among eight anomaly-based studies. Evidence suggests that termination rates have decreased in recent years. Termination rates also varied with maternal age, gestational age, and maternal race/ethnicity.
This systematic review presents the largest synthesis of United States data on termination rates following a prenatal diagnosis of Down syndrome. Evidence suggests that termination rates are lower than noted in a previous review that was based on less contemporary studies and had an international focus. Heterogeneity across studies suggests that a summary termination rate may not be applicable to the entire US population.


The above quote is from the blog of a religious American. The figures for Downs abortions is more than half, but certainly not the apocalyptic percentage that many are worrying about if this became available for autism. It is important that she is religious. Religion is what prevents many people from aborting regardless of test results (although many would not consent to the test in the first place).


http://www.patheos.com/blogs/thinplaces ... mplicated/
^^^^full article



Jayray
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09 Aug 2013, 9:36 am

Yes, I read the story.

In 13 March 2012 issue the Nature pub a story about a blood test to detect ASD done in Sweden



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09 Aug 2013, 9:58 am

cyberdad wrote:
Jumping ahead, there is already a Downs Syndrome blood test for pregnant mothers that avoids the need for amniocentesis of the developing baby in utero. I envisage the same type of maternal blood test may be possible for autism which paves the way for mothers to abort their pre-autistic fetus much like they do with Downs.

Since it's only a woman's "Freedom of Choice" involved here, what is the problem?



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09 Aug 2013, 10:31 am

I'm against genetic testing of all types. I also think that married couples should be required to fill out a questionnaire in order to qualify for a parenting license. Questions asking if they could handle bearing and accepting offspring with various disabilities into their biological families.


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09 Aug 2013, 10:32 am

Fnord wrote:
The Conspiracy Theorists must really be salivating over this one!

"ONOES! OMG! there gonna bort teh most briliunt mindz and innepndint thinkerz cuz their all awtistik!! !!"

:lol:

Come to think of it ... what's to prevent a conspiracy of Autistic doctors from preferentially aborting most neurotypical fetuses in an effort to create a master race of people who are more concerned with scientific advancement than with who wins on American Idol?

:chin: Hmm ... we'd need to ramp up the propaganda effort ...


You know, I would absolutely laugh my ass off at this if I had not had a genetic counselor try to persuade my to abort Abby (at 24+ weeks) when I, foolishly, answered honestly about Asperger's running in my family and me having it.

This was a viable fetus with no visible "defects"; to abort her at that point would have been not only silly but ILLLEGAL and STILL this numb c**t did not merely suggest the possibility but actually PRESSURED me to KILL MY CHILD. I was only at the damn diagnostic clinic in the first place because I was concerned about prenatal hypertension and perinatal stroke due to me being on Prozac through the pregnancy, and my regular OB had told me they could check the baby's blood pressure through hi-def ultrasound.

I would very much like to take my gorgeous, so-far MORE than typically-developing 14-month-old back there and wave her in the b***h's face.

I do not like abortion at all, but I am staunchly pro-choice because I do not believe it is my right to force my moral standing down someone else's throat. But-- When educated people in positions of authority PRESSURE a woman to make a certain choice, is that really free personal choice?? Doesn't seem that way to me.


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BuyerBeware
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09 Aug 2013, 10:46 am

In other thoughts, though I got a really awesome high-def picture of Abby sucking her thumb in my belly (and a really happy mother-in-law when I told her she could have the pic)...

...I also got a damned crotch-doctor try to argue me into going back on the risperidone (for no reason other than my diagnosis-- I was laying on the damn ultrasound table smiling and socializing at the time) and telling me I must be lying when I said I didn't need help finding the right bus to get home as I had driven myself to the clinic and needed to stop by the meat market on my way back to the in-laws anyway...

...and I NEVER DID get answers to whether Abby's blood pressure was within a safe range (until. of course, she was born, did not have a stroke, and had her vitals checked every few hours according to SOP).

So-- Yes, I worry.

Even at a termination rate of 40 to 50 percent, services and societal exposure to (and therefore societal tolerance of) individuals with a given disability goes through the floor. It will, I fear, return to the state it was in a few decades ago-- where only the very wealthy had access to any kind of services at all (and those services were restrictive and/or unreviewed-- not that there's not already enough quackery in autism "treatment"). Those who were not wealthy tended to keep "tetched" family members locked in attics, basements, closets, and bedrooms-- even if they loved them and treated them, otherwise, quite well-- both for the individual's safety and to avoid "staining" the family in the eyes of the community.

I realize that the "slippery slope" is a logical fallacy; however, I also realize that human beings aren't logical. You have to use some other kind of reasoning when assessing probable human behavior. And I do think it would be a fairly short trip from a 40 or 50 percent termination rate to such widespread lack of support and/or acceptance that any choice other than abortion would be unthinkable, and from there to mandatory testing and termination.

When I was a child, there were 2 or 3 kids with Downs in almost every school (there were, in my podunk junior-senior high school with less than 500 kids in six grades, two-- Lacey and Albert-- as well as Jodie with severe PDD-NOS, Joanie with spina bifida and some form of developmental delay, and Mindy with spastic bilateral quadriplegia-- and for the record, Lacey and Jodie could understand what Mindy was trying to say a lot better than we could, and often had to help students and staff figure it out; the SMART ones learned to listen to the "special eddies").

Their pics were with everyone else's, in alpabetical order with age-mates, in the yearbook. They sat with us at assemblies, they sang and danced with us in performances, they did art and music and gym classes with us. They had "buddies" who were, along with the aides, responsible for helping them cope. They had friendships with "normal" kids-- Lacey had Daddy for an early-intervention tutor as a small child and liked to talk to me because she knew I was his daughter. Jodie and I walked around the track together in Phys Ed; we talked about her sister's new baby and her baby doll (who "did" everything her neice did) and our pets at home. Albert liked me because he loved softball and I hated it, and ALWAYS let him cut in front of me in the batting lineup. Joanie and I didn't have much in common-- her family was wealthy, she was into clothes and NT teenager stuff and her friends were the popular girls-- but we smiled at each other in the hallways and she knew she could count on me to hold doors for her if her aide wasn't there to help her fight with her crutches, her backpack, and the crowd. I saw Lacey at the fair last year-- she gave me and my kids hugs.

I have not seen ANY in any of the schools my kids have attended-- not in the yearbook, not at assemblies, not at performances, not in the halls, not in the classrooms, and not on the playground. Are they so well-therapied that they are now seamlessly integrated and indistinguishable from typical kids?? Are they in completely segregated special-needs programs?? Or are they not there??

As to early intervention...

Sounds great in theory. Maybe those kids ARE now so seamlessly integrated that I can't see them though they are right under my nose; Jodie anyway didn't look in any way different from the rest of us (other than dressing like an 8-year-old at 17).

But-- what does "early intervention" mean?? Does it mean teaching kids (and parents) coping strategies so everyone can be happier and more functional?? Or does it mean teaching kids that they're broken and parents that they are just not qualified to deal with the child they have been given and should stick to cooking meals and wiping butts and leave the RAISING to "trained experts"????

'Cause Hubby and I pretty much got that treatment from the psychologist who diagnosed our son...

...with EXTREMELY MILD ADHD.

I can only imagine the scene we would have had if it had been something "worse."


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Last edited by BuyerBeware on 09 Aug 2013, 11:22 am, edited 1 time in total.

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09 Aug 2013, 11:05 am

CockneyRebel wrote:
I also think that married couples should be required to fill out a questionnaire in order to qualify for a parenting license. Questions asking if they could handle bearing and accepting offspring with various disabilities into their biological families.
So if they fail this questionnaire and don't get their license, what then - enforced sterilisation? You would have them barred somehow from having and raising children or if they go ahead and produce a child "illegally", you'd have it taken away from them? Isn't this all just another form of abortion? 8O


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09 Aug 2013, 11:10 am

There would be a decline in the population.


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09 Aug 2013, 11:29 am

I'm not saying that this test is inherently a bad thing, or that it ought to be scuttled, or that it's the end of the world.

I AM saying that there are all kinds of possibilites, some good and some so horrible that I do not care to contemplate them any farther at this time.

I AM saying that people in general need to start talking about this stuff-- with EVERYONE'S voice taken into account-- and figure out how we are going to use what we are able to know (and also how we are NOT going to allow it to be used, considering that genetic testing could also be used in an adult population for everything from authenticating diagnosis to better targeting and customizing treatment to forced sterilization to euthanasia to creating caste systems of ubermenschen and untermenschen to resurrecting the death camps).

Because as things stand now, it could be used in a lot of those ways. About the only one of those things I would rule out in America at this time are the death camps-- and please note the phrase "at this time."

And my experience suggests that the majority of the uses would not be the positive ones.


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09 Aug 2013, 1:52 pm

Doesn't sound credible to me. If I read the article correctly (and the information the author provides is accurate), the researchers "scanned the brains and analysed the blood of more than 600 babies and toddlers aged from 12 months to four years."

If we assume a (generous) prevalence of 1 in 100 or 1 in 50, they would have found 6-12 autistic babies/toddlers in that group of 600. That's a very small sample.

What did they compare it against? Surely they would need to compare the brain scans and blood of those 6-12 with brain scans and blood of traditionally diagnosed bona fide autistics. Hasn't happened, as far as I can tell.

They can't even be sure if the 6-12 really are autistic, as hardly anyone gets traditionally diagnosed at this early age. So it will take years before traditional diagnoses can verify whether those babies/toddlers identified as autistic are really the ones that are. And if such a verification (or falsification) were to take place it would have to involve all 600 babies/toddlers that were screened in this study to exclude the possibility that some of those now excluded as non-autistic are later found to be autistic by traditional diagnosis.

I could probably think of more, but you get the point.



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09 Aug 2013, 3:10 pm

Probably best to wait until publication of the actual research before speculating on its validity.

The lead researcher appears to be a credible figure. It seems at least possible that he did not design a stupidly flawed study.

Why not wait to see the results before reaching a conclusion based on nothing more than journalism?