“Female Protective Effect” theory

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ASPartOfMe
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02 May 2019, 1:58 am

The female protective effect, explained

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One of autism’s most persistent puzzles is why four times as many boys are diagnosed with the condition as girls.

Diagnostic bias partly explains this ratio. A leading theory of autism, the ‘female protective effect,’ also offers a powerful explanation. The theory suggests that girls and women are biologically shielded from autism.

What are the origins of the female protective effect theory?
In the 1980s, Luke Tsai, then at the University of Michigan in Ann Arbor, found that autistic girls have more relatives with autism or certain language impairments, on average, than do boys with the condition1. This finding hints that girls need to inherit more factors related to autism than boys do to show traits of the condition. Several large studies since then have supported Tsai’s observation.

What evidence supports this theory?
The most compelling evidence for the theory comes from several large studies of families or twins. One study found that the younger siblings of autistic girls are more likely to also have the condition than are the younger siblings of autistic boys2. Other studies suggest that girls are more resistant to mutations linked to autism than boys are — that is, girls may carry the same mutations as autistic boys and yet not have the condition.

Some studies suggest that more mutations, or ‘hits,’ are required to trigger autism in girls than in boys. A 2011 study showed that autistic girls have more spontaneous DNA duplications or deletions, called copy number variations (CNVs), than autistic boys do3; another study confirmed the finding three years later4. This study also reported that autistic girls are three times as likely as boys to carry CNVs that include autism genes.

Some animal experiments also support the theory. Female mice with a deletion in the 16p11.2 chromosomal region, which is linked to autism, do not have the learning problems that males with the deletion do; they appear to compensate for the loss through a protein called ERK. Another team found that females in a different mouse strain that have the 16p11.2 deletion compensate behaviorally.

Is there evidence contradicting the female protective effect?

Yes, but not much.

If autistic girls carry more familial risk factors than autistic boys, the siblings of autistic girls should also be at a heightened risk for autism or autism traits. But some scientists have found the opposite.

A 2015 study found no association between the sex of autistic children and the extent of autism traits in their younger siblings5. However, a 2013 study showed that siblings of autistic girls have more autism traits than do siblings of autistic boys6. Overall, there is more support for the theory than against it.

Why is it important to study this effect?

Characterizing the factors that protect girls from autism could help researchers develop targeted treatments or lower the risks associated with the condition.

But pinning down a biological explanation for the female protective effect must come first. So far, all the evidence in support of the theory is indirect. Ideally, scientists would identify specific aspects of molecular pathways in girls that underlie their resistance to autism.

One team is studying sex differences in the brains of autistic individuals; another is searching the genomes of large numbers of girls for genetic variants that might explain the protective effect.


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Joe90
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02 May 2019, 5:32 am

I don't get it.


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naturalplastic
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02 May 2019, 4:07 pm

This implies that autistic traits are all coded for on the X chromosome. Like hemophelia.

Females get two X chromosomes, while males get an X and a Y.

The Y is short and stubby, and therefore only has a fraction of the genes that its partner, the X chromosome has.

So if the X has a bad recessive gene there maybe nothing on the Y to overpower it. So a male child would get the effect of the recessive gene. In contrast every gene on a female's X is countered by another gene on the other, same length X, chromosome. The odds being that the corresponding partner gene would be the common version of the gene that would dominate and override the bad recessive gene. A female would have to be dealt two copies of the rare gene to get the condition - which would be far more unlikely than just getting one copy. Ergo the condition would be much rarer in females (much like in hemophelia).



Barbibul
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02 May 2019, 4:16 pm

This theory has been developed by people who do not know much about autism, the reality is that autism expresses itself differently in girls.



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02 May 2019, 4:26 pm

^ If you had taken the time to process the article you would of seen this comment

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Autism manifests differently in girls than it does in boys.


I wouldn't trust anything Luke Y. Tsai said , have you seen his credentials

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Luke Y. Tsai, M.D., professor of psychiatry and professor of pediatrics and communicable diseases in the Medical School, and research scientist in the Institute for Human Adjustment, retired from active faculty status on August 31, 2008.

Dr. Tsai received his M.D. degree from Taipei Medical College, Taipei, Taiwan in 1970. He completed his psychiatric residency training at the Taipei City Psychiatric Center (1971-74), the College of Medicine and Dentistry of New Jersey (1974-75), and at the University of Iowa (1975-77), and subspecialty training in child psychiatry at the University of Iowa (1977-79). From 1979-88 he held faculty appointments at the University of Iowa and the University of Kansas. Dr. Tsai joined the University of Michigan faculty as associate professor of psychiatry in 1988. He received a joint appointment as associate professor of pediatrics and communicable diseases in 1989 and was promoted to professor in both disciplines in 1993. He was appointed research scientist in the University of Michigan Autism and Communication Disorders Center (UMACC) within the Institute for Human Adjustment in 2002.

Dr. Tsai has held key leadership positions in the Department of Psychiatry, including chief of the Child and Adolescent Service, director of the Child and Adolescent Psychiatry Fellowship Training Program and director of the Developmental Disorders Clinic. Within the UMACC, he helped initiate and participated in the very first clinical assessments. He has been a devoted mentor and supervisor for numerous faculty, staff, residents, and fellows. In 2002, he received the Department of Psychiatry's "Teacher of the Year" award, and in 2003, the Autism Society of Michigan awarded him its President's Award.

Dr. Tsai is the author of more than 80 articles, 7 books, and 38 book chapters, and has made hundreds of presentations around the world on the diagnosis and treatment of autism and related disorders. He has been recognized nationally and internationally for his contributions and has served as a crucial ambassador to Asian countries in the field of child psychiatry and autism.

The Regents now salute this distinguished faculty member for his dedicated service by naming Luke Y. Tsai professor emeritus of psychiatry, professor emeritus of pediatrics and communicable diseases, and research scientist emeritus.


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naturalplastic
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02 May 2019, 4:33 pm

The article is a bit seemingly contradictory: they admit that the screening process is skewed to finding autism in boys, and less good at finding the differently manifesting autism in girls. But then they go on with the assumption that autism really is less common in girls and go on to talk about how scientists need to find the biological differences for that innate difference.



Arganger
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02 May 2019, 4:43 pm

I only think this could be the case in some cases.
For instance, fragile x syndrome is a known genetic cause of autism in some people, and this is heritable in the same fashion being described, however if I look at my own family, females and males with autistic traits is rather even. And seeing as the tests are skewed to missing autistic girls and women, I doubt this is the case for so much as even half of autistic people.


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02 May 2019, 4:52 pm

naturalplastic wrote:
The article is a bit seemingly contradictory: they admit that the screening process is skewed to finding autism in boys, and less good at finding the differently manifesting autism in girls. But then they go on with the assumption that autism really is less common in girls and go on to talk about how scientists need to find the biological differences for that innate difference.


I'm not surprised to be honest , autism appears to be a very contradictory disorder ( possibly due to the autism umbrella getting bigger every year )


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Barbibul
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02 May 2019, 10:19 pm

Fragile X syndrome is not a cause of autism, Fragile X syndrome and autism are two different diseases.

Autism do not fit with an X chromosome (neither Y chromosome) linked genetic disorder, although autism is obviously genetic (there are many other chromosomes).

Autism diagnosis actual criterias are subjectives and do favor many more diagnosis among boys than among girls. Autistic girls do express their own autism differently than do boys.



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02 May 2019, 10:37 pm

Well, since we know that traditionally autism was diagnosed in girls mainly if they had a) very severe autistic traits/comorbids or/and b) low IQ, what the theory is saying is that the younger siblings of children with severe traits or low IQ are more at risk of having autism than the younger siblings of autistic children who run the gamut of the spectrum. Well, duh!

It has nothing to do with gender.

It still seems there are more boys than girls with autism, but in general boys tend to be more vulnerable to a lot of conditions.

A lot of the older theories on autism are absolute rubbish, and not really worth spending time on, considering that they are so gender skewed.


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03 May 2019, 4:29 am

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Fragile X syndrome and autism are two different diseases


Neither are diseases.

Both are different disorders/syndromes, but some autism traits can be present in those with Fragile-X. I know quite a lot about Fragile-X because I have a friend with it and she blogs about it. Like autistics, people with Fragile-X can be upset by loud noises, have difficulties making friends, lack eye contact, and young children with the condition are known to flap their hands.
Boys with Fragile-X are more affected than girls, as they tend to have lower IQs.


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Barbibul
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03 May 2019, 1:03 pm

Both are diseases, to consider autism as a simple syndrome or a disorder is a reductive vision of what autism is. Anyone who have an average level of knowledges about autism would understand it.



Arganger
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04 May 2019, 9:10 pm

Barbibul wrote:
Both are diseases, to consider autism as a simple syndrome or a disorder is a reductive vision of what autism is. Anyone who have an average level of knowledges about autism would understand it.


Neither are diseases at all.


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05 May 2019, 7:13 am

Arganger wrote:
Barbibul wrote:
Both are diseases, to consider autism as a simple syndrome or a disorder is a reductive vision of what autism is. Anyone who have an average level of knowledges about autism would understand it.


Neither are diseases at all.


Apparently it is. :roll:


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ASPartOfMe
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05 May 2019, 8:52 am

Depends how you define disease. On a purely medical definition yes, autism is a disease.
Disease - Merriam-Webster

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a condition of the living animal or plant body or of one of its parts that impairs normal functioning and is typically manifested by distinguishing signs and symptoms : SICKNESS, MALADY
infectious diseases
a rare genetic disease
heart disease


By the colloquial definition or how most understand the term no. It is not contagious, one does not catch it, you are born with it, it is primarily mental not physical in nature.
“Born that way”, primarily mental is why Autism experts call it a “developmental disorder”.


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05 May 2019, 9:20 am

Diseases are either contagious or can kill you, or both.


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