New Theory About Autism Roots | Autism PDD
So, I have three DS's, on with ASD and one w/o (and one little baby). Does that mean that is unlikely that I have this sort of genetic condition? And, if that is the case, am I still looking at the stats that we fall in the 5-10% category or the 50% category?
Huh?
http://www.medicalnewstoday.com/articles/77811.php
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
I loved the article, since they cracked the human genome we have learned so much, and will continue to learn a ton!
Thankx for the great post!
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.
the girls risk of having an asd kid are. Hopefully there will be more
answers to all this down the line. I have no doubt the asd is genetically
predisposed, seems like more research should be able to crack this .I wonder that as well. I have two siblings, a younger brother (1 year younger than me) and a younger sister (29). My brother shows classic signs of HFA although un-diagnosed, my sister and I are NT. My two children (by birth) are a girl NT and Skylar is HFA/Severe ADHD. My brother and Skylar are the only males in my family that show any signs of it. Makes me wonder just how far back it really goes.
This is quite an interesting topic!!
I have 3 boys and 1 girl...
One is dx'd ASD...but he was a preemie and had lack of oxygen at birth...I have posted on other threads that my 9 yr old was/is "quirky" but never to the point that it held him back...he is very easily able to cope with his "quirks." He was full term...so if I'm reading this right, it could very well be that this is in our and our childrens genes, it just might be that Mason was a preemie and Logan wasn't that causes Mason's ASD vs Logan's NT?
I also have an autistic nephew which I have posted about a few times too...he too was a preemie...I don't think he had as many problems as Mason at birth, but still was 5 weeks early...I'm going to talk to my SIL more about this.
Are they saying that if this is true...Logan (or any of my children) might have a 50% of having an ASD child??? That's quite scary!
Well, it's the females that get the asberger on my dad's side,....... so far. I don't have any of the signs of it. Except I hate loud noise and I can hear viberations. I don't flip out or anything, I just get annoyed. My daughter and my son both have signs of asbergers/pdd. Apt in Sept. I don't know if one has anything to do with it, but it just occurred to me that ALL of the females on my mom's side have ADD.
just odd i guess...
Both I and dh have our issues..but truthfully I think everyone I have ever met has issues with something..some just have more than others:) I hate loud crowds and social situations with more than 5 people.. but love to create.~tons of anxiety..dh is rigid and ruled based..very literal thinking but loves order..we both despise chaos so we are perfect for each other:P
I find all of this so fascinating. I'm adopted and found my birth parents 10 years ago. Because my parents have a long litany of health issues and chronic conditions (migranes, diabetes, depression, anxiety) and coupled with the fact the my brother (adopted too but from different birth parents) was on the spectrum, I asked a ton of questions of my birth parents about family health history, probably more so than a typical person would ask of their parents. My husband's family is all local and we've probed there too.
What I've found is this:
- Dh and and I don't have an ASD trait between us. We're both as NT as can be (extroverted, wide variety of interests, very social).
- I have 2 half-sisters through my birth mother. Both my birth mother and sisters are very NT, no traits at all. My sisters both have 4 kids between them. I have one nephew who talked late, shows some traits, and has an IEP for pragmatic speech. Other than that one nephew, with minor ASD traits but not enough for a dx, there isn't anything. No autoimmune issues, depression, anxiety, allergies, etc.
- I am my birth father's only biological child and he has some apsie traits, but never dx'd (and is very successful, CEO of 2 companies). He too has never had mental health issues, though he has developed some odd food allergies in the last few years.
- On my husband's side, he has 3 sisters with 3 kids each. Shyness runs in the family, but everyone seems to grow out of it by middle school. My MIL and FIL have no ASD traits, and neither do any of my husband's siblings. However, one of dh's sisters has a child with mild OCD and another with low seratonin. Both of those kids are on meds and doing really well.
- Interestingly enough, if you look at our mass of parents and siblings, dh and I are the only ones in each of our families that went into technical fields. We both started our careers as software engineers within IT. However, given that neither of us fit the profile of typical engineers, it's easy to see how we both wound up in management LOL.
I think that ASD has to have a genetic component, but looking at my family it must be quite recessive!
Emerald - yes, it is scary, but it does sound like your kids might have a 50-50 chance of either having an autistic child or a carrier child. Your nephew is the kicker. Maybe.
There is a chance that your son experienced either a spontaneous mutation - that would mean that your NT kids do NOT have high risk! There's also another chance that the preemie hangover caused the autism - again, your NT kids would not be high risk parents.
But because you also have a nephew with autism, that MIGHT infer that somebody in your family history was/is a carrier. That makes you more likely to be a carrier, plus your sibling (the parent of your nephew), and your NT kids to be carriers too.
I cannot WAIT for some sort of genetic screening test! I know Cole's kids will be high risk, but maybe Jack's won't be.
When we got Cole's diagnosis, do you know I actually grieved for my unborn grandchildren? It made me think that Cole and Jack may elect to adopt instead of conceive, and I didn't want them to feel sadness over this. Idiotic of me, but emotions are like that.
[QUOTE=LeAnne C]When we got Cole's diagnosis, do you know I actually grieved for my unborn grandchildren? It made me think that Cole and Jack may elect to adopt instead of conceive, and I didn't want them to feel sadness over this. Idiotic of me, but emotions are like that.
[/QUOTE]
LeAnne, as an adoptive Mom who had a BRIEF bout of infertility, I can tell you, it is a real grief, but at the same time, clearly not the worst to recover from!
An advantage to adoption is that one has NO preconceived notions or expectations of the child ... which I am fully enjoying!
... I am glad T has experienced adoption and hoping (and hoped even before her dx!), that she too will choose to adopt if she wants children.
Linda - we waited 11 years after marriage to even try having kids because my career was going great, we loved traveling, just being together, other stuff.
Before marriage, we talked about waiting and fully realized that it could jeopardize our fertility. Our attitude was, "well, if we can't have one, we'll just go get one!" - neither of us thought biology was all that important compared to love. This attitude stunned a lot of people (they were SO kind to share their horror!).
Until you have been childless by choice for over a decade, you wouldn't believe the uninvited caustic remarks about popping out a kid! Anyway, hearing this crud for years made me realize that most people do pine for a biological child. And if my boys were going to be like most people, it made me sad to know they WOULD be sad...some 30 years down the road.
Hopefully, they'll just be awesome like DH and me! And you!
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