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About research and science - Re: Major Stress During Pregnancy Linked To Aut

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I think we should not jump to any conclusion with this research, let

alone apply results of scientific studies to our individual cases. I

closely follow the scientific literature related to Autism Spectrum

Disorders. So, please allow me to summarize how I see the current

state of the science. I know most of you already know this, and I

apologize for the lengthy posting.

The evidence indicates that ASD (Autism Spectrum Disorders) have

multiple origins - genetic, developmental and environmental - and

expressions, that the genetic component seems to involve several

combinations of a potentially large number of genes (which would

explain part of the large variability in its expressions), and that

there seems to be an important immunological (body immune defense

system) component, both in uterus and after birth. It is also clear

that people with ASD have several centers in the brain that do not

function as in non-ASD individuals.

About the genes: In some cases it is due to first time spontaneous

mutations - a change in a gene or group of genes that was not passed

by father or mother, and that happened most likely randomly in the

first weeks of gestation (there are many of these random (unexplained)

mutations happening all the time, most of which have no consequences

at all). Other cases show a clear familial pattern - like in my family

- but there seems to be several genes involved. There is no clear

transmission pattern in these familial cases. That is, it could be

mother-to-son, father-to-daughter, father-to-son, skip a generation,

and so on. At least four genes have been clearly identified but most

believe it may involve many more, because not all people that show

these four genes present an ASD. In summary... ASD has a clear genetic

component, but the jury is still out about how many, which, and in

what combinations. Now... why is this info important to us and our

children? Not because we want to have a perfect society without

autistic people (we wouldn't have light, telegraphs, beautiful

symphonies, wonderful art, etc, if it weren't for them), but because

in the NEAR future there may be ways to detect it as early as possible

an start appropriate interventions, and also because in a few more

years there may be some type of genetic or immunological therapy to

prevent or reverse the damage in uterus.

About the immunological (body defenses) issues: There seems to be some

issues in both the mother and the child. Mothers of children with ASD

may produce an immunoglobulin (IG) (a chemical that the body uses to

defend from infections or external agents) that may affect the fetus.

Please notice the double 'may'. All women produce IGs all the time,

including during pregnancy... why in 'some' they seem to affect 'some'

of the fetuses is not known. Stress? Perhaps, but unlikely as the only

or even main explanation. It is probably a combination of a

susceptible fetus (a fetus whose biology makes her/him react in a

certain way - and some maternal conditions. Now what relevance it has

for us? Same as the genes... if the susceptibility runs in our

families, one day when all these issues are better clarified we may be

able to prevent it or intervene as early as possible. But it is

definitely not to assign any guilt.

Let me rumble a little about this here, because this is exactly my

field of professional experience. Scientific studies are done with

samples of populations, never with all individuals affected by a

problem. Therefore, their finding may or may not apply to everybody.

In addition, all these studies mean is that their results indicate a

" probability " ... it may happen in certain cases. Now, when I am

affected by a problem it is hard to think that my probability was

different to 100%. But it is different to 100%. Given the same

circumstances, in my case it may have happened, but in many others it

did not. Scientific studies should always be understood in terms of

probability... under similar circumstances a number of people may have

it and others may not.

Now, about the much talked 'environmental' issues affecting ASD. I

really believe that making vaccines the culprit is the easiest, yet

least likely and most dangerous explanation. However, what is becoming

apparent is that people with ASD have some 'metabolic' abnormalities.

" Metabolic " refers to the way the body processes the chemical

compounds that may enter the body through food, medicines, air, and

even the skin. When these compounds (proteins, sugars, minerals, etc.)

enter the body, they may get processed, used and eliminated, or they

may get processed and stored, or they may get stored without

processing, and some may or may not get eliminated. There is also the

issue of " speed " at which the processing and elimination happen.

People with ASD seem to have difficulties clearing off some of those

chemicals. This may not only be the case of the pregnant mother and

the fetus herself/himself, but the child or adult. So, food or

medicines or other stuff that should pose no problem to many people,

may affect those with ASD. Please note that I am again using the word

" may " . Same thing... scientific studies... probability... may happen

to some, but not necessarily to everyone.

Also, difficulties with other environmental factors may be present in

some people with ASD... most have sensory problems (sound, light,

temperatures, textures, etc), for example, and those environmental

factors may affect them more than they would affect others.

Finally, let me mention one very important thing that may have an

great meaning for us. Research in the last 10 years has shown that

humans have a system in the brain that allow us to mirror the behavior

of others and try it ourselves. That system seems to be a big part of

the problem in ASD. It's called " mirror neuron system " . Apparently,

children with ASD can't use this system to its full potential. That

seems to explain why they choose repetitive actions and themes... if

it was hard to learn... why not learn as much about it instead of

going through the trouble of learning many other things. The good

news, though, is that this mirror neuron system is not absent in our

children... it's just inactive to a certain degree... and that means

that it can be activated. That seems to be the explanation for the

effect of Applied behavioral analysis and similar techniques, and

there are several researchers experimenting with other type of

exercises, video games, neurofeedback, etc. In the next 5 years we are

going to see a good number of very interesting techniques that help

our children fully activate their mirror neuron system. We should keep

a closed eye on these new developments.

I know we all know most of these stuff very well from our own

experience and all of this is unnecessary... And I apologize for the

lengthy and boring message (if you made it all the way here

reading!!!)... I just feel we need to understand that our children's

Asperger's Syndrome is by no means our fault, and it is instead the

coincidence of very many biological factors. We just happened to be

the lucky ones... and I mean LUCKY... I am sure that despite all the

difficulties we go through, we will not avoid having the same children

we have if given the opportunity. Our son is a joy... we're very proud

of the great person he is turning into... and he has definitely helped

us become more sensible and better individuals, beside many other

great things he's brought to our lives.

Hope you all have a great day. Hugs. F

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