Aspies For Freedom

University of Utah researchers believe they know the general area where one gene that causes autism may lie. But they need the help of families with at least one member who has the behavioral disorder if they are to narrow the search further.
      Their study, published in Human Heredity online, is part of the Utah Autism Research Project, which uses, among other tools, Utah's vast genealogical resources, including the Utah Population Database containing computerized genealogies of 170,000 Utah families with 1.6 million individuals. Some of the information dates back to pioneer days.
      The researchers used DNA from thousands of genes to conclude that a region on chromosome 3 probably is home to a gene causing autism, said primary author Hilary Coon, research associate professor of psychiatry at the U.
      The scientists reached that conclusion by tracing variations in the DNA of a multi-generational Utah family that has an unusually high occurrence of autism. They looked at 31 members of the family, which is of Northern European descent and all descended from one couple. Seven of those members have autism or a related disorder.
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      Along the way, they also ruled out one candidate gene they thought would prove to be linked to autism, Coon said.
      Autism strikes young children and is marked by impaired ability to relate to others and to communicate. Repetitive behaviors are common.
      The research tends to confirm recent Finnish studies of families that also target the same region of chromosome 3, Coon said. That's good news, because it suggests the researchers are on the right track, she added.
      Autism is likely not the result of a single gene mutation; a number of genes may be implicated in versions of the disorder. It may also vary from family to family, which is why they want more research subjects, she said.
      If it proves out, there may be other genes on other chromosomes that can cause autism, as well.
      The technical part of the study involved use of a glass chip containing short segments of DNA with known gene sequence variations. The DNA strands of study subjects were       broken up and bonded to the DNA on the chip, allowing a very detailed look at gene sequence variations between the two. The chance of the same variants in a region of a chromosome being passed through several generations of a family to multiple affected members is slight, researchers said. Those kinds of identical blocks mark the chromosome region as a good place to look for a link to the disease.
      They hope to get volunteers from families with individual and multiple cases of autism. Participants would provide a blood sample (the DNA can be taken from saliva, Coon said, but that is more limited in how they could test it) and some clinical testing. "We try to make sure this is not too much of a burden," Coon said.
      They're interested in people with all types of autism.
http://deseretnews.com/dn/view/0,1249,635176714,00.html

Hmm... a page urging families of autistic children not to take them up on this might not be a bad idea.

I would not volunteer for such a study for this reason:   once the research finds the genetic links to autism, there is no way of knowing how that information will be used.  But asking people not to participate will not help much because eventually enough volunteers (or parents of those who are helpless) will be found.  

Efforts would be better spend on trying to convince people to accept those who are different than to destory or eliminate.  

Look at the record for Down's Syndrome and other genetic disorders that have prenatal tests.  Are there even statistics on how many babies are aborted due to the results of prenatal genetic tests?  How many prenatal tests actually lead to treatments.  I do not feel that I need treatment for my AS.  But I have met a few people who would consider abortion for an unborn who had autism.

"The chance of the same variants in a region of a chromosome being passed through several generations of a family to multiple affected members is slight, researchers said. Those kinds of identical blocks mark the chromosome region as a good place to look for a link to the disease."

This sentence above, the way it's written, doesn't really make sense. I'm pasting below the abstract to the publication, and when I go to work tomorrow I might be able to get a copy of it online. Basically, what I think they're looking for, is specific sequence variations in a region of chromosome 3 that are present in the genomes of people affected by autism and inherited from their ancestors. And they would hope to find that the people in the families without autism inherited sets of different variations.  They're using the DNA chips to measure the presence or absence of specific variations, I assume.

Edit--the libary I have access to doesn't subscribe to the relevant journal--I've emailed the author to try and get a copy of the paper.  I need to learn how these sorts of studies are done.

Paper abstract.

Evidence for Linkage on Chromosome 3q25-27 in a Large Autism Extended Pedigree.   Coon et al, Human Heredity (2006) Jan 2;60(4):220-226 [Epub ahead of print]

Though autism shows strong evidence for genetic etiology, specific genes have not yet been found. We tested for linkage in a candidate region on chromosome 3q25-27 first identified in Finnish autism families [1]. The peak in this previous study was at D3S3037 (183.9 cM). We tested this region in seven affected family members and 24 of their relatives from a single large extended Utah pedigree of Northern European ancestry. A total of 70 single nucleotide polymorphisms (SNPs) were analyzed from 165 to 204 cM. The maximum NPL-all nonparametric score using SimWalk2snp was 3.53 (empirical p val ue = 0.0003) at 185.2 cM (SNP rs1402229), close to the Finnish peak. A secondary analysis using MCLINK supported this result, with a maximum of 3.92 at 184.6 cM (SNP rs1362645). We tested for alterations in a candidate gene in this region, the fragile X autosomal homolog, FXR1. No variants likely to contribute to autism were found in the coding sequence, exon-intron boundaries, or the promoter region of this gene. Copyright © 2005 S. Karger AG, Basel.

Um, okay, the lead researcher emailed me the paper, which I just read.  I'm going to have to get somebody to explain to me all the statistical analyses that get used in these sorts of studies, but the basic point of the paper is that they have an extended family of six generations--based on a figure in the paper, the great great great parents had 5 kids, and each of these kids is an ancestor of an autistic person, either 1, 2 or 3 generations down. So they got DNA from 7 autistics and 24 living relatives (siblings, parents, grandparents, or great grandparents) and looked at a set of "markers", which are variations in the genome DNA sequence, across a stretch of chromosome 3 that another research group had identified as being significant for a group of Finnish families with a high incidence of autism (I need to look up that paper).  Anyway, what one looks for in this kind of a study is sequence variations from a narrower region of the chromosome that "segregate' with the "affecteds" with some significant degree of probability--and then you try and look more specifically at the genes in that region of the chromosome.  The authors did this for a gene that's kind of like fragile X--they sequenced parts of the gene from three of the seven autistics in the study group, but they didn't find any obvious sequence variations, from which they conclude that either the gene isn't involved in explaining autism, or that they didn't sequence enough of the gene to find any significant variations that might exist.  (Note: sequencing is a lot of work and expensive.)

So the basic bottom line is that this study somewhat replicates the earlier Finnish study, and there could be a significant sequence variation that is relevant to autism but no one knows yet what it is, and people will have to do a lot more targeted sequencing in a lot more autistics along with non-autistic "controls" to find it.

Are you all nuts?  Why do you automatically assume that finding the genetric link would be a BAD thing?  You talk about children who are aborted with down syndrome, but if they would be born to parents who couldn't handle it, it just MIGHT be merciful, far better than finding them abused ten years later.  However, I think you're just looking at the down side anyway.  Think of what a blood test might mean for early detection in infants.  Early detection of down syndrome opens up tons of doors for social services and therapy programs that GREATLY enhance the childs abilities.  Wouldn't it be wonderful if they could do the same for autistic kids, if some how they were able to detect it during infancy and start a therapy program that would help them be able to have better sensory input and emotional/social involvement?  Maybe for Aspie's it's not SUCH a big idea, but for severely autistic children, it could be a God sent....  instead of spending their entire lives unable to speak, to even reach out and tell their parents they love them, or even ask for a drink of water, they may be able to have a semi-functional life.  

Right now the tests they have for autism are "iffy" at best.  I have to WAIT for my son to miss developmental milestones for anyone to really DO anything.  We're just finally now getting into speech therapy, and the kids six-months younger than him at daycare are already using sentences.  I only WISH it was as simple as running a blood test, we've had far too many "wait and see" issues with him.  I remember when we had to get him tested for Cystic Fibrosis because he had a perpetual cough as an infant.  It only took two weeks and they were able to determine he didn't have it, but those were a SCAREY too weeks, I can't imagine if I was having to wait on THAT like I have to wait on this.  He's also at "high risk" for developing Neuroblastoma (a nervous system cancer), and for that as well there's nothing to do but "constant vigilance".  There are enough things in the world that medical science doesn't know, and can't do anything about.  Why would we want to stop them from developing a tool that might help us or our children?  

You all worry about what they "might" use such a thing for, but if we were afraid of everything that MIGHT happen we'd never make any advances.  Why not think of all the great things that MIGHT come from it?

Are you all nuts?

Judging from our other posts, do we sound nuts? We have a reason to think the way we do about this issue.

Why do you automatically assume that finding the genetric link would be a BAD thing?

It is already known that genes are the main area for causes of autism. That information alone is not bad, it is actually positive.
But when the exact genes are discovered it is how that information is used that is very worrying.

You talk about children who are aborted with down syndrome, but if they would be born to parents who couldn't handle it, it just MIGHT be merciful, far better than finding them abused ten years later.

You are an aspie, would you like to have been aborted? That is the future when the genes are found. It is very unlikely that they will do a test and say 'baby x will be autistic but wont be bullied and will be happy' and let them live and 'baby y will be bullied and abused and be depressed' so they should be aborted. 90% of downs babies that are detected are aborted. We have no reason to think that figure would not be the same for autistics.
Do you think no autistics should be born in case they get abused? Isnt it the abusers who are wrong? Shouldnt we then, in theory, make a genetic test for abusers and eradicate them?

However, I think you're just looking at the down side anyway. Think of what a blood test might mean for early detection in infants. Early detection of down syndrome opens up tons of doors for social services and therapy programs that GREATLY enhance the childs abilities. Wouldn't it be wonderful if they could do the same for autistic kids, if some how they were able to detect it during infancy and start a therapy program that would help them be able to have better sensory input and emotional/social involvement?

Early detection in infants could be good in some ways, very bad in others. If a parent is told the child is autistic, they usually fear the most extreme outcome, they could want to give the child up for adoption as does happen for some downs babies that were not detected in the womb. On the other hand, the parents may dread a bad outcome for the child and begin intensive and invasive therapies on the poor infant. Also, lets remember that if the test can be done in the womb, only 10% are likely to survive to birth anyway.

Maybe for Aspie's it's not SUCH a big idea, but for severely autistic children, it could be a God sent.... instead of spending their entire lives unable to speak, to even reach out and tell their parents they love them, or even ask for a drink of water, they may be able to have a semi-functional life.

If they had avoided being aborted, how would their brains be made different from having early detection? Some aspies start out severely autistic and develop. Its not a hard and fast rule that a babies/toddlers estimated state will remain the same.

Why would we want to stop them from developing a tool that might help us or our children?

For the reasons already mentioned. If you had been tested as a child and told you were on the autistic spectrum, you could have been told not to have children as you will pass it on. Then you wouldn't have your son.
They could bring back enforced sterilisation (as has been done in the past) to stop the genes being passed on at all.

You all worry about what they "might" use such a thing for, but if we were afraid of everything that MIGHT happen we'd never make any advances. Why not think of all the great things that MIGHT come from it?

Because many of us are already being told not to have kids and being pushed into abortions/having kids removed, is this going to help???

With all things, we can only take the evidence of similar examples, and hypothesise of other situations

Do bear in mind the the US government's 'success' at dealing with the developement of the vast majority of 'normal' kids (ie the abomination to the principles of education that is No Child Left Behind) before you state that since the US government is willing to spend money on a system means that the system is a Good Idea. Or even has scientific evidence pointing towards the fact it works.

...And you mean train them, like you train a puppydog to walk to heel and do tricks? And why are you assuming that 'severely' autistic people even want that sort of help. I'm against excessive training for dogs, and you want me to advocate training humans to think and act in a certain manner? I'll take 'teaching society tolerance of other behaviours', thanks.

You also seem to be confusing formal oral language skills and communication ability. I'm good friends with an individual with cerebal palsy who can't use oral formal language, but I wouldn't for a second think that she was incapable of expressing her feelings, emotions, desires and wants. Granted, some concepts are far easier using communication aids, but not-speaking and not-communicating are very different things.

Mmm. Lets think. "Life isn't as bad as it could be for us, though it is pretty attrocious", and the Exodus either leads to salvation or extinction (or not-extinction-but-worse-for-us) in this case. I'll take life as it is and a slower road to salvation.

LittleJaina, I gave the example of how many downs babies are aborted, I dont need to be psychic to do that.
There may not be autistic women with a gun at their head telling them not to have babies, that is not needed. Because some parents seek hysterectomies and sterilisation for their autistic daughters, adult women autistics have been declared mentally unfit and then given an abortion, and others are psychologically pushed into abortions.

That is happening now! And there isn't even a test to prove that their child will be autistic yet.

If you want to live in a fantasy land where you think that abortions, and tests are alays used ethically its up to you.
But I am sick of living in a world where autistic women are having their choices compromised, and some of us have to live in fear of being diagnosed because we risk losing our children.

How your genetic information could be used against you.

Well you have all had the arguement about reproductive rights but there is more rights that could be taken away.

An inexpensive and reliable method of determining genetic presence of autism would mean discrimination in employment, insurance coverage and other aspects of survival for people with autism.    That could mean that a young child could be given a test to determine if they had autism shortly after birth and then his/her parents would be forced into giving him/her treatments for autism or risk losing parental rights because refusing treatment would mean abuse.  The test results would forever determine if that child was eligible for education and employment of their choice.   Already personality testing for employment screening is widely used and prevents people with autism and other disorders from getting employment.      
Insurance coverage could be denied some with genetic disorders.  

It is all very airy fairy to believe that rights of autistics would not be abused because we (some western nations) have laws to prevent such discrimination.  Actually what laws exist do little to prevent discrimination, and they are not inforced.  There is often no mechanism to determine if discrimination is present.   There is not much help.  Laws and strategies to help those with autism lag far behind the technology.

I recently read an article about a genome mapping project taking place in Iceland.  Some people there had issues about how genetic information about their ancestors was being used.  Some Icelanders are opting out of the study.  One man said he did  not think that discrimination will be caused by genetic studies because after all "blacks in America are discriminated against even without genetic testing."  So people are not really thinking about the causes of discrimination or what tools can be used for discrimination.

Even if a person decides to opt out of testing if it is determined to be a right not to refuse but what good is it if all your relatives genetic information is readily available - your parents, siblings and other relations.    Your genetic predispositions and conditions could be mathematically calculated.

80-90% of Down syndrome babies killed in push for ‘human perfection’
Jan 27, 2006
By Jeff Robinson

Recent statistics show that as many as 80-90 percent of all babies found to have Down syndrome through pre-term testing are aborted, an alarming reality demonstrating contemporary culture’s fixation with human perfection and consumer choice, R. Albert Mohler Jr. said Jan. 22 on the “Coral Ridge Hour” television program.

The very fact that such pre-term testing is offered to expectant parents under the guise of “making informed choices” insinuates that they really only have only one choice to make: whether or not to abort
http://www.bpnews.net/bpnews.asp?ID=22533

Wikpedia says that a doctor testified that 90% are aborted -
http://en.wikipedia.org/wiki/Down's_syndrome


LittleJaina, the women you know who are choosing to abort their down's babies must be not telling you because of your views, because it IS happening all around the world.

You think its ok for female autistic children to be sterilised if their parents decide it, would YOU like to have been sterilised??? How hypocritical of you, you have a child, yet others have had their rights taken away.

Given that there is a taboo surrounding abortion, and even extremely vociferous objections, especially in the US (and I think you're from the US, right?), I doubt that many women having this experience would would talk openly and publicly about their experiences of aborting a foetus because of Down's Syndrome.

Of course you know about the women who've continued with a pregnancy affected by Down's Syndrome, because there's a child at the end of it, visual proof that the pregnancy was continued with.

But it's harder to prove a negative, it's harder to prove how many pregnancies were aborted on these grounds, because you don't see or hear the evidence of these terminations.  

And yes, the tests are done after the first trimester, but how do you know whether a pregnant woman who later says she had a miscarriage or a still birth hasn't in fact had an abortion?  Abortion is such an emotive subject, especially in the US, that I think very few women would publicly admit having an abortion.

Btw, littleJaina, it's really not necessary to SHOUT at people.

Tests for Down's syndrome are available during the first trimester.  Most women I know will not tell anyone except their husband they are pregnant until after these test results are given.

Here is some information I found:

"First trimester screening
From 11 to 14 weeks of pregnancy, a special ultrasound scan called a nuchal translucency (NT) test can be performed. This measures the fluid under the skin at the back of the baby's neck and can be used to determine your risk of having a baby with Down's syndrome.

There is also a blood test which you can have either in combination with the NT scan (the Combined Test) or on its own. The blood test measures:

- hCG (human chorionic gonadotrophin)
- PAPP-A (pregnancy associated plasma protein).

A woman who is carrying a baby with Down's syndrome will have abnormal levels of these two substances in her blood.

There is a lot of dispute about how good these tests are, but they do seem to be pretty accurate. The NT scan alone probably picks up about 75 per cent of babies with Down's syndrome, and the blood test alone, about 60 per cent. If you put the two tests together, the detection rate can be as high as 90 per cent. However, the accuracy of the NT scan depends on many factors, including how good the sonographer is and how good the scanner is that she's using.

Advantages of first trimester screening

• Good detection rates.

• You have time to think about what you want to do next if you are found to be at high risk for Down's. Your options include doing nothing or having a diagnostic test, such as CVS or amniocentesis, to tell you for certain if your baby has Down's.

• If you have a diagnostic test soon after your screening test, and you choose to end the pregnancy, you may be able to have a suction termination. This is less complicated than a medical termination (one that uses drugs to stimulate a mini-labour), and can only be used up to 12 or 14 weeks of pregnancy."

We will continue to put our views forward, we are not actually stopping any research, or stopping any information, we are giving OUR views on it because we are concerned of how such a test will be used.

We are here to discuss those views, its the point of this Genetic Issues forum.

I do not expect my views to stop  technology or stop genetic testing.    I am against discrimination.   By showing how prenatal tests are used for diagnosing the possibility to Down's syndrome, it shows that absolutely nothing is being done to change the world's attitudes and prejudices against those who are faced with mental and developmental challenges.  If one extrapolates the use of prenatal testing for AS if it becomes available from the trends happening with ones used for Down's syndrome, Autism will be the new Down's syndrome.   The testing has just become a tool of discrimination.

Some prenatal testing, if there is a treatment, has allowed such procedures as surgery to save the fetus.   If prenatal testing for autism could mean that parents would have access to special services immediately after the birth of their child if they wished that benefitted the child, fine.  But this is not happening.  People just have extreme prejudices against those with mental or developmental differences.