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Mitochondrial Dysfunction

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Yesterday I took my 20-month-old son to see his pediatrician. He has ASD, some pretty significant motor planning problems, and a bit of central hypotonia. In the course of our conversation, she mentioned that some of his symptoms could possibly be explained by a mitochondrial dysfunction and that we should consider having him tested. When I got home, I went looking for more information, and I'm confused and concerned by what I've been reading. It seems that mitochondrial diseases, as a group, are considered to be extremely serious and progressive. I did find at least one site that suggested mitochondrial problems implicated in ASD may be relatively more mild and static in nature. Is this possibly true? In fact some sites use the words "disease" and

"dysfunction" interchangeably, while others make a definite distinction. I've heard that regressions caused by infections or other biological stressers in persons with mitochondrial disease can last as long as the interfering condition or can be permanent. In my son's case, he has never regressed or lost any skills; he has exhibited motor problems and ASD symptoms basically since he was born, and he is physically very healthy. Now, though, I'm going to have this nagging fear that we're one virus away from losing all of the wonderful progress we've made. Can anyone tell me more about this?

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Hi Carmen,

I'm sure that experts will chime in, but in the meanwhile, do not panic. Yes, for ASD children, when they have mito dysfunction it means that it is milder and it doesn't mean that they will regress. We had the same concern when my daughter was diagnosed as potential mito complex 1 dysfunction...

My guess is that only the most severe cases of mito diseases had been evaluated/understood. Most of the testing is so new and there is such little data that in many cases we do not even know what it means or how to solve it (and we are in that boat). But the advantage is that some of the bigger names in mito are here, in Georgia. We went to Dr. Kendall (in Alpharetta). She's been really nice and she was the one that told us that my daughter has potentially mito complex 1. But for now, we do not exactly know what to do with that information. There is a mito set of medicines that you can give your child, but these issues are cutting edge and not well understood yet.

But for now, you don't need to think that your son will regress. My daughter is 10 years old and the only time when she regressed was when a pediatric neurologist gave her Depakote to "see if it helped". Thank God, we didn't keep it for long. But she has slowly and steady improved...

To: autism-georgia Sent: Thursday, October 13, 2011 10:08 AMSubject: Mitochondrial Dysfunction

Yesterday I took my 20-month-old son to see his pediatrician. He has ASD, some pretty significant motor planning problems, and a bit of central hypotonia. In the course of our conversation, she mentioned that some of his symptoms could possibly be explained by a mitochondrial dysfunction and that we should consider having him tested. When I got home, I went looking for more information, and I'm confused and concerned by what I've been reading. It seems that mitochondrial diseases, as a group, are considered to be extremely serious and progressive. I did find at least one site that suggested mitochondrial problems implicated in ASD may be relatively more mild and static in nature. Is this possibly true? In fact some sites use the words "disease" and "dysfunction" interchangeably, while others make a definite distinction.

I've heard that regressions caused by infections or other biological stressers in persons with mitochondrial disease can last as long as the interfering condition or can be permanent. In my son's case, he has never regressed or lost any skills; he has exhibited motor problems and ASD symptoms basically since he was born, and he is physically very healthy. Now, though, I'm going to have this nagging fear that we're one virus away from losing all of the wonderful progress we've made. Can anyone tell me more about this?

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