Guest guest Posted February 26, 2008 Report Share Posted February 26, 2008 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 Quote Link to comment Share on other sites More sharing options...
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