NEWS mother carriers | Autism PDD

Does anyone really WANT an autistic child BEFORE they bear them? I mean, when you get pregant, did you say ' I WANT an autistic child?' I asked our support group this and every single person said NO OF COURSE NOT. 37 out of 37 said they wanted a neuro-typical child. But once they come, of course, we love them. If science ever advances to the point we find out in utero, autism will not be 'an epidemic ' anymore - as down syndrome births went down, so will it. THIS is what is sooooooooooooooooo sad!gosh, never wanted to be reprimanded here, excuse me please. i am NOT debating about Abortion! if you knew me you would realize how ridiculous it is to picture me debating, i have sooooooo many faults, but am like the epitome of meek and sweet :)Last summer a study was published claiming men over 40 were 6 times
more likely to have an autistic child. Now this study. I guess my child was
"doomed" since we were both over 40.

I have also read that 50% of autistic children can be traced to different
genetic mutations. Autism is just a phenotype with many different
genotypes. I think the science is still young and who knows were everything
will sort out in the future. I still think a lot of the children diagnosed with
autism today would not have diagnosed autistic 40 years ago. I know my
child would not have been.

Um, ya'll - I was talking about PRE-conception screening of the parents. No pregnancy involved here...just a chance for my NT son and his wife to get tested as carriers before they decide to start a family. This screening is done for sickle cell, Tay-Sachs, Cystic Firbrosis. If both parents are carriers, and they choose to adopt a baby, there is no harm done.

I was not suggesting that they would do an amnio or one of those little snippy things at 15 weeks that tell you if everything is okay with the baby. And even if they DID eventurally add this to the screenings available by amniocentesis, its not really any different than our current processes for other genetic problems. What people do with that info is none of our business. Maybe it can provide in utero treatment, like they do today for heart problems and spina bifida.

Really, it is unwise to get into an abortion debate! Nobody cares what others think of their stance on this topic, and it has nothing to do with properly parenting our autistic children.

Stop please, Autumn. This turn of conversation was NOT directed toward testing fetuses - it was to help newly marrieds with autistic siblings figure out what to do. Stop saying the A word. Thanks.

Sure life is tough! BUT I would never abort a child in utero becuase they were autistic!

autumn-

No offense, but you are not the person I thought to be posting about how sad it would be if autism was not an epidemic! You are always the one who grounds us on how difficult it is, and I think our sons are very similar. I totally agree with you- how sad not to have our kids. I also think that would be so difficult to decide. A good number of autistics live fulfilling lives.

Things just "read" differently than how they sound inside your own head. We just recently lost at least one really helpful member because it was perceived by readers that there was a debate about religion going on.

Person A said something well intentioned. X or Y took it out of context. D and E never bothered to clearly read A's original post, and thinking erroneously that their personal views were under attack, went on counter offensive. L&M&N had to weigh in, A cried foul, etc. Oh how the fur flew because of a series of misunderstandings. People quit the board over this!!

I just don't want people to perceive that you (and the responder) are starting to discuss abortion. No religion, no abortion, no politics. No offense to you personally, we just need to avoid certain topics. It was me who brought up preconception screening for our NT kids, so I thought it was my responsibility to short circuit something that came out of it.

No personal offense intended. Just no A word, please.

Oh!!!! I did not know there was a rule on this board that said as you quote above 'no religion no abortion no politics' - can you show me where to read that please so I know exactly what I CANNOT talk about???

http://www.sciencedaily.com/releases/2007/07/070724113757.ht m

News article saying mothers carry autism and pass mutation.

First problem I see is them saying 'age' is factor, when the moms I know with children with autism are 19-40!

Thanks for sharing the article.

Here's an abstract that gives a little more detail on the study. In my opinion, with only 118 patients with sporadic autism, this study gives us valuable further knowledge and new questions to ask, but does not in any way suggest that we older mothers should jump to the conclusion that it's somehow our fault.

"We tested the hypothesis that de novo copy number variation (CNV) is associated with autism spectrum disorders (ASDs). We performed comparative genomic hybridization (CGH) on the genomic DNA of patients and unaffected subjects to detect copy number variants not present in their respective parents. Candidate genomic regions were validated by higher-resolution CGH, paternity testing, cytogenetics, fluorescence in situ hybridization, and microsatellite genotyping. Confirmed de novo CNVs were significantly associated with autism (P = 0.0005). Such CNVs were identified in 12 out of 118 (10%) of patients with sporadic autism, in 2 out of 77 (3%) of patients with an affected first-degree relative, and in 2 out of 196 (1%) of controls. Most de novo CNVs were smaller than microscopic resolution. Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized."

Source: http://adsabs.harvard.edu/abs/2007Sci...316..445S

It doesn't fit the pattern in our family. I am far from being on the spectrum, and in fact, excelled at forensics and debate and other language-intensive endeavors. My dh, on the other hand, is probaly on the spectrum. Very much the computer nerd who uses language in a more unusual fashion.

I was 30 when I conceived ds, and dh was 28, and I don't really think either of those would be considered "old" either. Not young, but not old.

I was 19 when Payne was born...out goes the age theory, but like MiMom3 has said depression/anxiety as well as autoimmune dx are in our lineage BIG time. I think that those might play into this as well. DH and I were talking about when we noticed a change...Payne was always delayed, but we assumed it was his epilepsy and lack of playmates setting an example but the photo album doesn't lie...at 2 1/2 he regressed A LOT! There are things he was doing then that he still won't or can't do now. This is another form of Freud's theory. I'm not buying into it.

this seems pretty farfetched... look at how low those %'s are. the article makes it seem that the whole study was based on databases and not actual hands on testing... i'm not buying it.

I was 19 when I gave birth to my som-almost 20. Just another thing to blame moms for.

One thing I do wonder about is depression and anxiety running in families. It seems as though these might be linked to autism in some way. I just thought my dh and I were together a risky mix. So far, one out of three's not bad.

New Theory About Autism Roots

In work that may one day lead to earlier detection of children at risk of developing autism, a team of scientists has devised a genetic model for the enigmatic disorder. The two-tiered theory integrates families with one or more autistic children.

An estimated one in every 150 children born in the U.S. develops autism, according to the Centers for Disease Control and Prevention (CDC); it is four times more prevalent in boys than in girls. The condition is characterized by cognitive deficiencies and symptoms ranging from antisocial (not responding to one's name and / or avoiding eye contact) to obsessive, repetitive behavior. The most popular theory about its genesis is that there are flaws in several genes passed down through generations of a family that culminate to predispose a child to the disorder, especially if exposed to certain environmental factors such as toxic chemicals or a lack of oxygen at birth.

"People thought there was this uniform risk-if you have an autistic child, then there's some uniform, but fairly low, risk that you'll have another one," says Michael Wigler, a professor of genomics at Cold Spring Harbor Laboratory (CSHL) in Long Island, N.Y., and senior author of the new model described in Proceedings of the National Academy of Sciences USA. "None of the population geneticists, in my experience, had thought that there might be two classes of families: low risk and high risk."

Wigler's rethinking of autism's cause stems from an exhaustive analysis of risk based on a database of families with more than one autistic child. (The Autism Genetic Resource Exchange, or AGRE, manages the database.) The team determined that most cases of autism arise from novel, spontaneous mutations passed down from one or both parents, resulting in large gaps in a person's genome often encompassing several genes, which are then disrupted or inactivated. (This loss of genetic code-known as copy number variation-results in an offspring receiving only one of the standard two copies of a gene, which could cause an insufficient amount of protein to be produced by those genes.) In most instances, this mutation will result in an autistic child. However, in some cases-more likely in girls than boys-the recipient of this mutation will not produce any symptoms.

"When that child matures and becomes a parent, they have a 50 percent chance of transmitting … [their mutation] … to a child that might not be as lucky as they were, especially if … [its] … a boy," Wigler says. "So, they will be transmitting this with close to a 50 percent frequency-and that is the source of the high-risk families."

Wigler says that the team will continue to update its model as new figures are added to the AGRE database and try to gain new insight into the mechanism that gives girls greater resistance than boys. "To understand that [disparity] at a molecular or genetic level would be very important, because you could theoretically treat kids … you could detect something early and intervene," Wigler says. "I view it as the most important thing to understand."

Maja Bucan, an associate professor of genetics and gene variation at the University of Pennsylvania, says that the new autism model is a creative way to interpret the familial data. "It's important to come up with new theories and then just test them once we have more data," she explains. "I don't think we have enough data [yet] to say whether this theory is right or wrong."

According to Wigler, the new model "certainly changes the way you think about autism. The paradigm shift is … something can be genetic without being heritable. The field has ignored the contribution of spontaneous mutation for a whole range of things that matter a lot to society," which, he adds, includes schizophrenia and morbid childhood obesity.

By Nikhil Swaminathan

Scientific American
http://sciam.com

woodsman25
Senior Member

Posted: 26 July 2007 at 6:33am \| IP Logged

LeAnne C
Senior Member

Posted: 26 July 2007 at 7:32am \| IP Logged

This sounds like they are saying that in families with autistic (or engineer) backgrounds, the kids who grow to be mothers, and may appear to be NT, are the carriers as also might be fathers who probably show some signs of autism.

I find it interesting that they mention the neonatal stuff, too. Because our son had such a terrible infancy, we of course grasp at the whole preemie-hangover thing as what set him off. The coincidence of being 3 months premature AND having autism - completely unrelated - has astronomical odds. Its like winning the Powerball of rotten luck.

But I also know that I have a faulty blood clotting gene, making me overcoagulate & not absorb vitamins very well. My mom died of a blood clot that went to her heart following surgery, and her mother had blood clots in the legs. This is normally an undiagnosed condition...maybe for those women who have autism, or "engineeriness", in their families - they could test for this blood clotting gene (easy, cheap, you can do it today - no waiting on research).

These microscopic blood clots in the placenta cause the baby to still grow, but get just a smidge too little oxygen or nutrients. All ya gotta do in order to have an okey-dokey baby is take a daily low-dose aspirin and extra folic acid (in addition to your prenatals) during the pregnancy. Can you imagine if something THIS simple could cut the rate of autism down? Just like the "back to sleep" campaign cutting out SIDS significantly.

Interesting too that baldness and hemophylia are also carried by the mothers who don't outwardly show the symptoms.

Great post.

Edited by LeAnne C on 26 July 2007 at 7:34am

Well, over here everyone is young healthy and perfectly normal all the way back, no ASD spectrums as far back as we know, live till their 90s, fresh air, good foods, etc.

Just another theory

I have also heard the other side of this and that is if it can be detected in utero, people will abort their autistic babies like they do their down syndrome babies - thsi is sooooooooooooooooooo sad.

I think that classical autism is from different genes than like HFA or aspergers. My DH was just dx'd with aspergers. My son is the only child of mine that has ASD. Alot of "junk" is in my dh's family--language probs, learning probs, anxiety, depression, bipolar, ADHD, etc.

My family only has the anxiety portion (if you want to call "perfectionism" an anxiety thing), some OCD--but well hidden. In which we never knew about until later in life--thru us researching. No wonder that so far---3 of my 4 kids have some sort of anxiety disorder.

No, its not just another theory. Read it carefully. This is potentially AWESOME news, because if it can be clearly replicated by other studies, then eventually they can test everybody out there to see if they are carriers or not before people start conceiving. Like they can do for Cystic Fibrosis or Sickle Cell!!

Let me take a stab at explaining this theory in normal language.

The low risk families suddenly, for no reason, have a spontaneuous mutation in the gene pool. That's how they either get an austic child or a seemingly non-autistic child that is a carrier. So, everyone back to the cro magnon days in your family may have been genetically okay, but you still have an autistic baby...he got if from spontaneous mutation. This is how identical twins are born.

Other scenario - You and DH have 4 parents. Each of them has two parents. That makes 8 grandparents you and DH have. Each one had 2 parents. That makes 16 great grandparents you and DH had. But even if all 28 of these people, plus you two, seem "fine", just one could be a carrier and you'd never know it. And that would make you a high risk family. If you are a carrier, you have a 50-50 chance of each of your kids either being autistic or autism-carriers.

Since our kids ARE autistic, then THEY are high risk and their kids have a 50-50 shot of being autistic or carrying autism. Their NT siblings, however, may not be high risk. If your autistic child's genes experienced a spontaneous mutation as an embryo, then your NT kid has no more likely a chance of having autistic or carrier children than anybody else.

This study, if backed up, can lead to a pre conception screening so couples know whether they are carriers or not. This doesn't cure anything, but at least people could be better informed before becoming parents.

I live on Long Island where Cold Spring Harbor Laboratory is located. This is a VERY highly regarded place and it REALLY knows genetics. This is still a theory and they need to go a LONG way to prove this. My guess is that there will never be ONE source of autism. Some of the cases may be caused by this, others by other things. But it is certainly true that there is a ton of information that points to a genetic source. Statistically, there is not preponderance of autism among older moms, the way there is with Down Syndrome kids. That is where the theory and the reality don't seem to jive.

The more we learn about genetics, the more we can prevent autism, and not necessarily just through abortion. Plenty of people who are strongly against abortion use artificial insemination to get pregnant. Of course, there is a hot debate about what to do with the "extra" embryos. But that hasn't stopped infertile couples from inseminating eggs they don't want to use. The same can happen if they find the genetic marker for autism. The embryos with the autism marker can simply not be impregnated into the uterus. For those people who still don't like this procedure, there can be couples who get genetically tested and decide to adopt instead of bear children and risk having an autistic child. There are others who would have the child anyway but who would KNOW and therefore be able to get intervention from Day One, as Down Syndrome newborns now get. Or there may even be prenatal genetic therapies that could be created to "fix" the faulty genetic codes. Plus, no one who WANTS to have an autistic child would be forced to change that fetus in any way. That's what's great about our system in America -- we have so MANY personal, private choices we can make.