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billiscool
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02 Mar 2014, 3:27 pm

http://www.usatoday.com/story/news/nati ... s/5862747/


some stuff:''There are about seven males with mild autism for every female, though the gender gap is much smaller at the more severe end of the spectrum.'''

''This finding, in a study of more than 16,000 people, confirms that autism is not simply being missed in females – it is actually occurring less often''



Waterfalls
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02 Mar 2014, 3:40 pm

I didn't see the study. They say it confirms autism isn't being missed in females, but I'd like to know how they've shown this.



ASPartOfMe
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02 Mar 2014, 3:51 pm

Somehow the link is working for a few minutes then I get an error message. Go to the USA Today website and search for Autism

The problem with the study is not the study itself but that females are often not diagnosed or misdiagnosed so the genetic "glitch" may be causing autism but the researchers are not recognizing it. If this study causes the misdiagnosis or non diagnoses of females to become worse then it already is, it will be tragic.


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Last edited by ASPartOfMe on 02 Mar 2014, 4:07 pm, edited 2 times in total.

daydreamer84
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02 Mar 2014, 4:05 pm

This is from an article that explains the study in more depth:

"It turns out that girls tend not to develop autism when only mild genetic abnormalities exist, the researchers said. But when they are diagnosed with the disorder, they are more likely to have more extreme genetic mutations than boys who show the same symptoms.

"Girls tolerate neurodevelopmental mutations more than boys do. This is really what the study shows," said study author Sebastien Jacquemont, an assistant professor of genetic medicine at the University Hospital of Lausanne, in Switzerland.

"To push a girl over the threshold for autism or any of these neurodevelopmental disorders, it takes more of these mutations," Jacquemont added. "It's about resilience to genetic insult
." FROMlink

I'm going to look for the original study in my university library online and try to post a link.

Very interesting. I guess I resulted from a large number of genetic glitches. :lol:



Waterfalls
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02 Mar 2014, 4:10 pm

Thank you got the second link. It's frustrating, I found link

http://www.elsevier.com/connect/study-r ... n-in-males

says the original article in Cell is freely available until May, but doesn't let me in. Says still in press.

In any event, I'm still curious how the authors addressed the issue of whether females are being missed, assuming that's the case.



BirdInFlight
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02 Mar 2014, 4:29 pm

I too would be interested to know what makes them think what they think regarding missed diagnoses in girls.

Because, if a girl is one of the "missed" -- nobody knows about her to include her in studies, do they? Multiply that by all the girls and women missed.

Hence the study and the conclusion is inherently flawed.

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02 Mar 2014, 4:40 pm

BirdInFlight wrote:
I too would be interested to know what makes them think what they think regarding missed diagnoses in girls.

I might have not written well what I meant to say. At the time I wrote it I had no knowledge of how they decided who was diagnosed because I had not seen the second link.

BirdInFlight wrote:
Because, if a girl is one of the "missed" -- nobody knows about her to include her in studies, do they? Multiply that by all the girls and women missed.

Hence the study and the conclusion is inherently flawed.

.


That is exactly what I was trying to say.


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Last edited by ASPartOfMe on 02 Mar 2014, 4:44 pm, edited 1 time in total.

daydreamer84
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02 Mar 2014, 4:43 pm

I can't find a full-text of the original study. I have to get some other things done now and will try again later. The Cell Press website is giving me trouble too.

They're just saying they've found a potential molecular genetics explanation for why more boys get ASD than girls which is that girls with the same symptoms of boys show more genetic insults showing that it takes more mutations to cause ASD in girls than in boys. So, if a boy had a few of these CNVs he might get autism whereas a girl with those few cNVs wouldn't develop autism. The girl would need more CNVs to develop the same condition. Therefore there is a biological difference between boys and girls with autism that can explain the difference in diagnostic rates to a certain extent. I don't think it refutes the fact that there could also be a social cause and girls missed in diagnosis. It just gives some evidence for there being a biological difference. I can't comment on the methodology of the study because I can't find the bloody thing!



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02 Mar 2014, 5:20 pm

The trouble with saying that girls need more mutations to look like boys with regard to autistic traits is that the environment impacts the expression of those traits. I do not see how for example one can say that girls, who are talked to more as infants than boys, would look the same as boys in there communication, with or without autism. It isn't IMO accurate. Girls and boys are different AND are raised differently.

This turns the premise on which we base early intervention upside down. Which may be reasonable, but I don't believe is what's going on here. We intervene early because we think it should make a difference. Which means a girl who is raised with an emphasis on communication carrying the same genetics for autism should look more communicative. Because she's had more teaching how.



daydreamer84
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02 Mar 2014, 5:53 pm

Waterfalls wrote:
The trouble with saying that girls need more mutations to look like boys with regard to autistic traits is that the environment impacts the expression of those traits. I do not see how for example one can say that girls, who are talked to more as infants than boys, would look the same as boys in there communication, with or without autism. It isn't IMO accurate. Girls and boys are different AND are raised differently.

This turns the premise on which we base early intervention upside down. Which may be reasonable, but I don't believe is what's going on here. We intervene early because we think it should make a difference. Which means a girl who is raised with an emphasis on communication carrying the same genetics for autism should look more communicative. Because she's had more teaching how.


They take boys and girls with the same symptoms (same expressed traits or phenotype) and find that girls with those traits have more genetic mutations or more extensive genetic alteration than boys with those same traits.

They're looking at Copy Number Variations and Sequence Number Variations. CNVs are structural variations(deletions or duplications, for example). This is not the same as epigenetics where genes can be turned on or off by environmental influences. This is a difference in the structure of the DNA of girls vs boys with the same expression of autism. LINK



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02 Mar 2014, 5:58 pm

I can't access the link unfortunately. We could go on indefinitely wondering, will be interesting to see the full article if it's available. Then we will know.



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02 Mar 2014, 6:02 pm

Okay here's another one which explains the difference between structural variation like CNVs and epigenetics. WIKILINK

Yes, it will be interesting to see the full study and critique it.



btbnnyr
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02 Mar 2014, 7:07 pm

Here's is the section on gender diagnosis:

Quote:
In addition to investigating biological theories, in-
cluding differences in genetic liability for NDs,
35,36
researchers have investigated the ‘‘social bias’’ hypothesis
related to gender stereotypes in the diagnosis of ND or
ASD,
33
e.g., for equal severity of autistic traits, boys were
more likely to receive an ASD diagnosis than girls in the
ALSPAC cohort.
37
Although our study did not investigate
this hypothesis, the excess of maternally inherited CNVs
and SNVs speaks against it. This inheritance bias is again
in favor of sex-differential liability to mutation, resulting
in lower adaptive skills in males and thus leading to lower
parenting and household-management skills.
The excess rate of maternal inheritance was reproducible across the
different cohorts (ISCA and Signature Genomics) and rea-
sons for ascertainment (ND and autism), and the increase
in maternal inheritance between large and small CNVs
(OR
z
1.4) was similar to the gender bias observed in pro-
bands ascertained for NDs. NDs and parenting skills might
thus represent two opposite ascertainment criteria (which
enrich for and against ND symptoms, respectively), result-
ing in an equally increased burden in females. This also
highlights the important contribution of inherited auto-
somal variants in ND, even in the case of the SSC, which
has actively ascertained against multiplex families.


I copied and pasted without reading the article.


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03 Mar 2014, 4:58 am

billiscool wrote:
http://www.usatoday.com/story/news/nation/2014/02/27/autism-girls-versus-boys/5862747/


some stuff:''There are about seven males with mild autism for every female, though the gender gap is much smaller at the more severe end of the spectrum.'''

''This finding, in a study of more than 16,000 people, confirms that autism is not simply being missed in females – it is actually occurring less often''


I strongly suspect that being socialized as female simply mitigates the negative effects of high functioning autism. if MAAB individuals were treated the same way FAAB individuals are treated, I suspect similar results would be seen.


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daydreamer84
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03 Mar 2014, 11:19 am

^^^
Being treated differently wouldn't cause structural changes to a person's genome such as copy number variations (CNVs). Structural variation in genetics just doesn't work that way.
*Some genes can be turned on and off by environmental influences (mostly pre-natal) but that is not structural and is completely different from what they're discussing in the study.

Girls and boys being treated differently or autism being thought of as a boys disorder may contribute to a higher rate of diagnosis in boys than girls but this study shows that there are also some biological differences between boys vs girls with autism that probably accounts for at-least some of the differential rate of diagnosis.