Genetics and autism: One of the better reviews to date. Video link.

[Neonatal RRT]

This was posted on YouTube in December, 2021

It helps explain:
1. The complex genetic interplay increases the risks of autism
2. How "autism" is really a "catch all" for a large group of individuals with rather broad genetic phenotypes. It explains the phenomenon of why one autistic individual may present quite differently than another, despite the common traits that identify them both as autistic.
3. The differences between male and female autistics, and why sometimes females are being misdiagnosed.

There is a short, but important Q&A at the end. I believe @Magna and others expressed the concern about this idea of genetic counseling and eugenics if an embryo or fetus has been identified as having "all the genetic markers" for autism. I think his answer would be quite relieving to those who have this concern.

 

[Gerald Wilgus]

This is excellent. Thank you. While it was only mentioned in one sentence, I would like to know more about the genetic switches associated with autism. Many such control elements are pleitropic, having multiple phenotypic effects. I cut my teeth studying a control element in phage lambda and found that the recognition occurs at the promotor with action being exerted downstream. Plus, what is important is that a lot of evolution occurs through changes to such pleitropic switches.

 

[Neonatal RRT]

This is excellent. Thank you. While it was only mentioned in one sentence, I would like to know more about the genetic switches associated with autism. Many such control elements are pleitropic, having multiple phenotypic effects. I cut my teeth studying a control element in phage lambda and found that the recognition occurs at the promotor with action being exerted downstream. Plus, what is important is that a lot of evolution occurs through changes to such pleitropic switches.

What I thought was interesting, but also confirms the observation that autism appears to be on the rise,...the apparent rise of "de novo" mutations: "A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo variant, new mutation, and new variant." May be associated with the changes in our society towards higher educational achievement in women (a surprisingly strong association) and later childbirth (the age of the father),...but also the rise of obesity within the population, and phytoestrogens in our foods (estrogens, insulin, hypothyroidism),...and a rise in other epigenetic "triggers" in our world today that are statistically different than say, 40 years ago.

Furthermore, I found the slide where they separated out the polygenic (complete genetic make up), the familial (parents), and the de novo contributions and how each was contributing towards a different onset and trajectory of autistic symptomatology up until 40+ years of age. What?!! That is potentially useful, but stunning information for me.

 

[Atrapa Almas]

Well, what an interesting study told in such ugly way. Some thougths:

Of course autism is on the rise, autist people are not killed nowadays so they can have children. And we are including "less severe cases" as autists, when we were just excentric people some years ago.

The term "risk" is ugly by itself, but when combined with "getting more educated" is totally out of place. Take care with the risk of having a more educated population!

Parents, please, be responsible: Do not study and have children as soon as you can, before you are ready emotionally or finantially, to have more healthy uneducated NT childs who can use the technology created by the educated autists risky ones...

Wow...

About the scientific part, I see to much variation, too many gennes, too many correlations... for just a small human population sample. My very first un-informed resction would be "we need 100 times more samples".

And I also dont buy that the less "severe" cases are due to recent mutations. Families with engineers who are sons of engineers who are sons of mechanics are so so so common.

And as Temple Grandin explains in her books, many of the autists brain circuits seems to be in between other animals and NT humans. To me (personal oppinion) functional autists are the original homo sapiens, being NT the ones who evolved into zerg humans to create modern zerg society. Funtional autists work quite well in a tribal setting.

On the other hand we have non functional autists who are on the rise because they are not being killed nowadays, those cases may be due to those modern mutations and family combinations.

Well, just my 2 cents. I still have lots to learn on the topic. Thanks for sharing.

 

[Gerald Wilgus]

Well, what an interesting study told in such ugly way. Some thougths:

Of course autism is on the rise, autist people are not killed nowadays so they can have children. And we are including "less severe cases" as autists, when we were just excentric people some years ago.

The term "risk" is ugly by itself, but when combined with "getting more educated" is totally out of place. Take care with the risk of having a more educated population!

Parents, please, be responsible: Do not study and have children as soon as you can, before you are ready emotionally or finantially, to have more healthy uneducated NT childs who can use the technology created by the educated autists risky ones...

Wow...

About the scientific part, I see to much variation, too many gennes, too many correlations... for just a small human population sample. My very first un-informed resction would be "we need 100 times more samples".

And I also dont buy that the less "severe" cases are due to recent mutations. Families with engineers who are sons of engineers who are sons of mechanics are so so so common.

And as Temple Grandin explains in her books, many of the autists brain circuits seems to be in between other animals and NT humans. To me (personal oppinion) functional autists are the original homo sapiens, being NT the ones who evolved into zerg humans to create modern zerg society. Funtional autists work quite well in a tribal setting.

On the other hand we have non functional autists who are on the rise because they are not being killed nowadays, those cases may be due to those modern mutations and family combinations.

Well, just my 2 cents. I still have lots to learn on the topic. Thanks for sharing.

I think you are misinterpreting several things. Your idea of risk connoting some type of value is off base when it was used as shorthand for statistical significance. Also, your commentary about sample size is off. The discussion centered around effect size. The statistical design of experiments for that is far different in controlling power. Effect size usually connotes factorial designs, which measure effect size by manipulating all independent variables at once, allowing you to bootstrap the power of the analysis. I found the significance of the correlations to be very compelling.

 

[Atrapa Almas]

I think you are misinterpreting several things. Your idea of risk connoting some type of value is off base when it was used as shorthand for statistical significance. Also, your commentary about sample size is off. The discussion centered around effect size. The statistical design of experiments for that is far different in controlling power. Effect size usually connotes factorial designs, which measure effect size by manipulating all independent variables at once, allowing you to bootstrap the power of the analysis. I found the significance of the correlations to be very compelling.

Risk is used for some undesired effect. Like the risk of a machine failing, the risk of death, the risk of having an accident...

When we talk about lotery, we dont use risk. We dont say I just bought lotery to have a risk of winning. Or I am going to call that girl so I have the risk of going out with her to the cinema... For desired effects we use chances or posibilities.

I wont enter to discuse if the sample is big enougth or not, my perception is that it is not. I would also bet that it is byased (like not including enougth black people, or enougth fully functional people, or enougth poor people...) But as my experience is with machines, I may be wrong.

For a machine with a fail mode very clear, like bearings as an example, a sample of 1000 bearings fails is good enougth to get a basic idea of what is happening. And even in those cases the samples tend to be biased and dont work that well when used on different machines that use the same bearings.

If we were to try to understand the fails on a refinery, that can fail in thousands of different ways, we could not take just 1000 refinery fails. If we did that, we could get 10 samples for some common fails modes and cero samples of uncommon ones. We could need million of samples of refinery fails, to be more or less confident about catching the more common fail modes.

But we are not trying to understand a refinery, which is quite simple. We are trying to understand autism, based on genetics, epigenetis, enviroment, culture, sex, education, age of the parents,...(insert non considered variables here)... which was an illness just some years ago, was a vacine side effect some others years ago, and that is still not considered a neurodivergence but a disorder...

I may be wrong, I have not enougth understanding of the study and of medics stadistics in general, but I would take that study as preliminar knowledge.

 

[Gerald Wilgus]

Risk in research stats is expressed as alpha and beta. alpha risk is calling something false when it is in fact true and beta risk is calling something true when it is in fact true. Sample size controls power, or beta risk. However, in the discussion, risk is used to denote significance of the the independent variables to result in the phenotype at a level of confidence, which, in science, is usually at 95% confidence, meaning that 95% of the time the variables will result in an effect. There are no moral or ethical value attached to such risk.

Alas, developmental genetics is not machine like, especially with pleitropic control elements involved. Plus, when one is sampling a genome, that is not a sample size of 1 but a sample size of about 25,000 genes.

 

[Atrapa Almas]

So if I search "risk of being gifted" and "risk of being autists" I will find that they are used in similar neutral ways at academic studies, because risk is just the way the talk about probabilities?

Mmm .... Ok. Lets see. I open Google Academic and type:

A) Risk Autism: https://scholar.google.ro/scholar?hl=ro&as_sdt=0,5&q=risk+autism&btnG=

B) Risk Gifted:

https://scholar.google.ro/scholar?hl=ro&as_sdt=0%2C5&q=risk+gifted&btnG=

Strange, there is a clear use of "risk of being autistic" but on gifted people the use ir more like "Gifted people at risk".

Now, If I look for the difference between risk and probability, I get this:

Difference between Risk and Probability | Risk vs Probability

Risk is essentially the level of possibility that an action or activity will lead to lead to a loss or to an undesired outcome. The risk may even pay off and not lead to a loss, it may lead to a gain. A probability, on the other hand, is a measure or estimation of how likely is it that an event...

www.differencebetween.info

The NT correct way of behaving should be to just trust you, to show you that I am in your group and I support you.

As we are both autistics, I will just say that I accept the possibility of being wrong without being sure that I am wrong.

 

[Greatshield17]

This was posted on YouTube in December, 2021

It helps explain:
1. The complex genetic interplay increases the risks of autism
2. How "autism" is really a "catch all" for a large group of individuals with rather broad genetic phenotypes. It explains the phenomenon of why one autistic individual may present quite differently than another, despite the common traits that identify them both as autistic.
3. The differences between male and female autistics, and why sometimes females are being misdiagnosed.

There is a short, but important Q&A at the end. I believe @Magna and others expressed the concern about this idea of genetic counseling and eugenics if an embryo or fetus has been identified as having "all the genetic markers" for autism. I think his answer would be quite relieving to those who have this concern.

Thanks, we need more information like this to combat Autism-deniers and Autism-haters who want to maintain the narrative that Autism evil, the product of modern toxins, etc.

I do agree with @Atrapa Almas critique of using vilifying language like "risk" and the like; although best way to combat this is not necessarily to debate it but simply be fruitful and multiply which, please God! I'm hoping to do soon.

 

[Neonatal RRT]

@Atrapa Almas I just want to further explain medical terminology,...as I think context and usage are very important here,...which I think you may be misinterpreting a bit,...and perhaps going down a line of thinking that really wasn't intended.

Not too long ago, on another thread we had to clarify the medical terminology around "mental illness",...as in to say, "If one is not mentally healthy, one has mental illness." and is a "catch all" from anything from a mild depressive state to a full on psychotic break,...and everything in between. It is super general.

So when we are speaking of "genetic risk", it too is general terminology to refer to "how likely". Don't get to "haired up" about it. LOL! Seriously. I am aware how some people can get quite concerned about this idea of cures and eugenics,...I am too,...but don't take it down that path when within medical terminology, we talk about "risk".

Take care.

 

[Atrapa Almas]

@Atrapa Almas I just want to further explain medical terminology,...as I think context and usage are very important here,...which I think you may be misinterpreting a bit,...and perhaps going down a line of thinking that really wasn't intended.

Not too long ago, on another thread we had to clarify the medical terminology around "mental illness",...as in to say, "If one is not mentally healthy, one has mental illness." and is a "catch all" from anything from a mild depressive state to a full on psychotic break,...and everything in between. It is super general.

So when we are speaking of "genetic risk", it too is general terminology to refer to "how likely". Don't get to "haired up" about it. LOL! Seriously. I am aware how some people can get quite concerned about this idea of cures and eugenics,...I am too,...but don't take it down that path when within medical terminology, we talk about "risk".

Take care.

I think its medical way of naming things the one that must adapt to the rest of scientific way of naming things.

I understand that medicine started studing ill people as maintenance science started studing non functional machinery. So risk is widely used in both disciplines.

But nowadays medicine, psicology, genetics are moving from studing ill populations to study mankind in general, and so their language should move too. Risk has a very clear meaning. Risk = Probability of ocurrence * Consecuence. Its not a neutral word.

Medics do not decide by themselves word meanings or definitions. By using the proper language they will start looking "patiens" as "clients", "disorders" as "conditions", etc.

Medicine, biology, psicology and the like are starting to become serious sciences. They still cant match the precise use of language physics, chemistry or maths have. But that is the way.

If we, who are the ones afected by this bad use of scientific language dont act now to change it, it will remain the same for the next generations of autists (and other divergences).

Just imagine a pregnant couple who go visit their doctor. The man is white, the woman is black. So now the doctor tells the woman that the RISK of having a black child is 75%.

Would that way of speaking be accepted by the parents? I bet the doctor would be in problems if they speak that way.

How about the RISK of being muslim if the father is Christian and the mother is Muslim? How does it sound?

Now how about an autist men and an NT woman. Why do we allow the RISK word to be used with us?

I do think (and its the main spanish autism comunity way of thinking) that we must get rid of the missuse of risk. I accept that you think differently and respect your point of view on the matter. I also thank that you took the time to explain me why you do think that way.

 

[Neonatal RRT]

I think its medical way of naming things the one that must adapt to the rest of scientific way of naming things.

I understand that medicine started studing ill people as maintenance science started studing non functional machinery. So risk is widely used in both disciplines.

But nowadays medicine, psicology, genetics are moving from studing ill populations to study mankind in general, and so their language should move too. Risk has a very clear meaning. Risk = Probability of ocurrence * Consecuence. Its not a neutral word.

Medics do not decide by themselves word meanings or definitions. By using the proper language they will start looking "patiens" as "clients", "disorders" as "conditions", etc.

Medicine, biology, psicology and the like are starting to become serious sciences. They still cant match the precise use of language physics, chemistry or maths have. But that is the way.

If we, who are the ones afected by this bad use of scientific language dont act now to change it, it will remain the same for the next generations of autists (and other divergences).

Just imagine a pregnant couple who go visit their doctor. The man is white, the woman is black. So now the doctor tells the woman that the RISK of having a black child is 75%.

Would that way of speaking be accepted by the parents? I bet the doctor would be in problems if they speak that way.

How about the RISK of being muslim if the father is Christian and the mother is Muslim? How does it sound?

Now how about an autist men and an NT woman. Why do we allow the RISK word to be used with us?

I do think (and its the main spanish autism comunity way of thinking) that we must get rid of the missuse of risk. I accept that you think differently and respect your point of view on the matter. I also thank that you took the time to explain me why you do think that way.

Ok,...so I am understanding this from your perspective. However,...having been part of these conversations with parents with the physician,...we do have to do some prenatal discussions with parents if the baby is "at risk" for a premature delivery. When we are speaking to scared parents,...we do have some empathy and humanity,...we don't use THAT sort of language with them. I think the way you described your concerns is clearly an example why we would NOT use that sort of language.

Now, referring back to the language used by the PhD in the video I posted. When we assess "genetic risk", it means "likelihood", but even so,...within the context of autism, there is this concept of "genetic loading", but does not necessarily mean one IS going to have an ASD, or WILL present with symptomatology, either clinical or subclinically. Females, in this context, will need a significant more "genetic loading" in order to present with an ASD, than a male, for example. The geneticist was very clear that when they council parents,...knowing this,...that they would never suggest any sort of prenatal intervention,...especially, as they noted, that in certain cases, the child with the ASD is likely the one in the family that ends up with the highest level of academic achievement.

Referring back to the "strong association" of autism in highly-educated women,...you have to read between the lines here. A highly-educated woman, statistically speaking, will have her children later in life,...but more importantly, the father is likely of a similar age,..."older". "Old sperm" is probably the more likely culprit behind autism than the woman's age or education level, per se. Certainly, there was significant evidence to show that "very young" fathers was a risk factor for a particular genetic phenotype of autism,...and "older" fathers was a risk factor for a different set of autism phenotypes,...very interesting. So, the advice here, for those 30 and 40-something mothers,...get it "on" with the 22 yr old pool boy,...not your "old man". LOL!

I also appreciate the concerns with "language",...it is truly specific to who is using it and in what context. If one is reading the words and not understanding it, it can lead to some misinterpretations, misunderstandings, and "trigger" someone in an emotional way,...because we are not understanding the perspective.