Interesting article about genetics and Autism

[beachcomber]

http://ca.news.yahoo.com/s/capress/1..._boys_genetics

[heatherdeg]

If I'm following that correctly, it would seem that the genetic predisposition comes from the mother's side.

In our case, that makes TOTAL, TOTAL sense because my father and his entire immediate family is absolutely, without question somewhere in the spectrum. There have been plenty of adjectives used to describe them over their lifetimes but at the end of the day, it turns out to be different dx's in the spectrum.

BUT, dh was suspected of mild Asperger's. Never dx'd, but something's "off". So who knows...

[Linda on the move]

no, not interseting.

My DD is on the spectrum. On reading about autism and girls, it is suspected that many girls who are higher functioning, have PDD-NOS, or Asperger's go undiagnosed.

The very first sentence about how 4 times as many boys than girls have autism may not even be correct. Four times as many are diagnosed, but girls are more likely to be missed because they tend to act differently, more likely to shut down rather than act out.

I'm pretty sure that if my DH were evaluted, he would score a little on the spectrum, but I'm the opposite of ASD: outgoing, very clued in socially, etc.

[AnalogWife]

In our case, I believe it. My DH didn't know who Temple Grandin was until we watched the movie for the first time this week. He howled at the Refrigerator Mom theory because he knows DS has been nothing but cuddled and coddled and BF'd and co-slept starting the day he was born, but when the dev pedi who gave us the dx told us that there is believed to be a genetic component, all signs have pointed to me. We both believe (me especially) that I have ASD characteristics, and if there's anyplace I got them, it was from my somewhat stoic mother. But I also wonder if the 3 rhogam shots I got didn't have something to do with DS's dx.

[beachcomber]

Linda, I agree that it's really frustrating that so many girls go undiagnosed. It took us years to get a Dx for my DD (almost 5) who is PPD-NOS. A thoroughly frustrating experience. So much valuable time wasted! But on the bright side, some good research into girls and ASD is being done and things are looking up for girls with autism. I'm particularly interested in the research you speak to that demonstrates how girls display ASD very differently than boys do. More of that kind of research, please!

I posted this article because I know many here have sons with ASD. I wanted to share with them. After all, we're all in this together.

[Kristine233]

Its interesting, but I don't know if I agree with it or think it holds much weight. The fact that they haven't even done the same research on Autistic girls totally makes their finds non-valid IMO. I do think Autism is genetic, but I don't think this is it. Just because girls are less likely to be diagnosed with Autism doesn't mean there are less of them. I have Asperger's and my Son has Autism (or Asperger's depending on who does the eval, lol) and that would mean I received 2 genes with the missing part. While I can see it in my mom's family, its just not there in my dad's.

And this part ticked me off:

"It's another one in the list and I think it will be one of the most common ones, so parents will be able to have their children tested," he said. "Particularly if they have a son affected, it will be important for them to know if it's caused by a mutation at or around PTCHD1."

"And if it is, they'll know that future (male) children would be at risk."

"There are lots of women in the population," added Scherer, "who are carrying this (genetic variation) that are predisposed to having boys with autism."

Scary stuff right there. Of course its spun so that people can be "more prepared" but you know it will go in the direction of terminating pregnancies that test positive for Autism related genes. Not to mention putting the blame right back on mom.

[nyveronica]

Being the mother of a Fragile X boy, I found this article fascinating and I'd love to read the whole abstract of the study.

A side note on genetics: We (mothers) pass and X along to our daughters as well as our sons. Boys are more affected, more readily diagnosed with x chromosome mutations because they only have one X to work from. Girls are trickier because they get two X's (one from each parent) and work from the good and bad X's.

[beachcomber]

Yup, nyveronica. You make good points. The anomaly was found on the X chromosome which means that boys are going to be the ones to display the anomaly. Girls will likely only carry it because of the doubling up of the X in girls. Research is definitely biased towards boys in Autism and that's totally unfortunate. But progress is being made. I believe that there are many MANY causes - the brain is a very complicated thing.

[heatherdeg]

Originally Posted by Kristine233

I have Asperger's and my Son has Autism (or Asperger's depending on who does the eval, lol) and that would mean I received 2 genes with the missing part. While I can see it in my mom's family, its just not there in my dad's.

I'm not understanding your point. It didn't say you needed two affected X genes. I'm in the same boat: dad's family--totally. Mom's family--absolutely not. And entirely possible that I have some flavor of Asperger's (never dx'd, but there was a TON of other issues that were being focused on during until I was an adult--so WAY easy to overlook if you could possibly imagine. Sheer hell)

But someone makes the point below that boys may be showing the anomaly more strongly because they only have one X gene to work from.

Originally Posted by Kristine233

Scary stuff right there. Of course its spun so that people can be "more prepared" but you know it will go in the direction of terminating pregnancies that test positive for Autism related genes. Not to mention putting the blame right back on mom.

I absolutely see your point and agree--and think it's horrifying and disgusting. BUT... I don't feel that we shouldn't have the information available to people as a means of fixing what is a cultural issue. A chunk of our culture doesn't respect life before birth. We can't NOT give them information that may exacerbate that decision because we think it's gross--no?

I happen to be someone that wouldn't terminate for Down's, etc. but I ABSOLUTELY want to know before that child is born so that I can prepare myself, prepare my family and research all the things that I'm so NOT going to be able to deal with when my child arrives if I'm 1) dealing with a newborn in general; and 2) blindsided by a child with serious issues and trying to see straight. Let me work all of that out before my child arrives so that I can get a handle, get whatever will make life easier for us, get informed so that I can advocate for whatever s/he may need, etc.

Just because there are people who would terminate over stuff like this, there are plenty of people in my boat, too.

[Linda on the move]

never mind

[nyveronica]

That's the thing with genetics (and specifically genetic disorders). Only one gene needs to be affected for there to be a presentation of symptoms.

Moms aren't to "blame" for passing along X chromosome disorders to their sons, it just "Is". Try not to take it that way.

[Linda on the move]

Originally Posted by nyveronica

Moms aren't to "blame" for passing along X chromosome disorders to their sons, it just "Is". Try not to take it that way.

moms aren't the only one passing along the gene, and sons aren't the only ones with autism.

The theory only works if you pretend that girls like my daughter don't exist.

If it were passed half that time by moms and half the time by dads, you'd still find a lot of families where son's got the gene from mom. It just doesn't prove anything.

[nyveronica]

Not at all what I'm saying. Genetics is a lot like math. The information is absolute when it can be pinned to a gene.

Girls with X chromosome disorders can get them from their mother or father. Boys have to get them from their mother.

I completely and totally understand that girls are affected with Autism spectrum disorders and I also understand that they are often missed and harder to diagnose (which is profoundly frustrating).

Genetics isn't a theory.

[AnalogWife]

Originally Posted by nyveronica

Moms aren't to "blame" for passing along X chromosome disorders to their sons, it just "Is". Try not to take it that way.

[heatherdeg]

Originally Posted by nyveronica

Not at all what I'm saying. Genetics is a lot like math. The information is absolute when it can be pinned to a gene.

Girls with X chromosome disorders can get them from their mother or father. Boys have to get them from their mother.

I completely and totally understand that girls are affected with Autism spectrum disorders and I also understand that they are often missed and harder to diagnose (which is profoundly frustrating).

Genetics isn't a theory.

I agree with this, but that wasn't exactly what I was saying. I actually, in seeing my 2yo daughter and how she functions, TOTALLY see how and why girls can be missed and I cannot in a million years imagine the frustration because it was frustrating enough with my son. So I'm not saying that there's no issue with girls.

Likewise, I wasn't saying that mom is to "blame".

But I was more wondering about an earlier post from nyveronica:

A side note on genetics: We (mothers) pass and X along to our daughters as well as our sons. Boys are more affected, more readily diagnosed with x chromosome mutations because they only have one X to work from. Girls are trickier because they get two X's (one from each parent) and work from the good and bad X's.

Not because I'm concerned about my daughter (she's adopted from the state and I have no parental health history on her, but she's developing leaps and bounds differently than my son in a more NT way), but because I think this is something that really needs to be explored and understood.

I think if we could do that, perhaps we could implement screening that would help advocate for services for children that can be shown to be affected through physical evidence when the "specialists" won't listen. In that respect, it would be a huge help to girls who are being overlooked.

[beachcomber]

Originally Posted by Linda on the move

moms aren't the only one passing along the gene, and sons aren't the only ones with autism.

The theory only works if you pretend that girls like my daughter don't exist.

If it were passed half that time by moms and half the time by dads, you'd still find a lot of families where son's got the gene from mom. It just doesn't prove anything.

M'kay. The article states that this genetic discovery only accounts for about 1% of cases of autism. That it's not a determining factor in what causes autism, but that it contributes to research. From a [b]research standpoint[/i] it's significant. From a practical standpoint, it's not really all that significant. We're talking 1% of the male population of autistic people. That's a pretty small number that it accounts for - or may account for.

[beachcomber]

Originally Posted by heatherdeg

I think if we could do that, perhaps we could implement screening that would help advocate for services for children that can be shown to be affected through physical evidence when the "specialists" won't listen. In that respect, it would be a huge help to girls who are being overlooked.

As the mom of a girl with PDD-NOS (or poss. Asperger's) I totally agree. It could help get girls care and therapies way sooner and in much greater numbers. That alone makes the path of genetic research worthwhile.

[nicky85]

I don't mean to butt in here (especially because my son has spina bifida and not autism), but I kind of relate to the whole genetics thing. Research seems to indicate some genetic links to spina bifida, but nothing like a specific gene. My husband and I have been told we have about a 2-3% chance of having another spina bifida baby. Genes seem to play a role, but it's certainly not like muscular dystrophy, hemophilia, xeroderma pigmentosum, or cystic fibrosis where it's directly X-linked and every pregnancy has 1 in 4 chance of producing a baby with the disorder. (Which we are grateful for =) )

There is a little controversy about my son's actual date of conception and I think he was conceived when I wasn't taking a multivitamin and had a very low folate diet. I remember reading that some research has indicated that low folate levels can make it so that certain genes that control spinal development don't "turn on". Maybe this is similar to autism? Certain environmental factors activate or deactivate certain genes? The human body, mind and genetics are very complex. I believe that there are several factors at play with autism.

[momtoalexsarah]

I find this article interesting - both for the genetic link and also the location of the deletion. If you read the article, the deletion is on the 22nd chromason, 11th segment - P side. A deletion at 22.11on the Q side causes Velocardiofacial syndrome - what my DD has. And I would be willing to bet that my son has the deletion on the P side - causeing Aspergers.
And as for the X link and girls with autism - you could still have this deletion be the cause - just BOTH X chomosones would have to be affected - so one from each parent.

[heatherdeg]

Originally Posted by momtoalexsarah

I find this article interesting - both for the genetic link and also the location of the deletion. If you read the article, the deletion is on the 22nd chromason, 11th segment - P side. A deletion at 22.11on the Q side causes Velocardiofacial syndrome - what my DD has. And I would be willing to bet that my son has the deletion on the P side - causeing Aspergers.
And as for the X link and girls with autism - you could still have this deletion be the cause - just BOTH X chomosones would have to be affected - so one from each parent.

See? Now that's just crazy!!! I wonder if anyone else is making that connection...

I'm also now REALLY sorry that I didn't do the genetic testing ordered by ds's neuro when he was 18mo.