Having an autistic child is not the end of the world--far from it. It is my hope that through this blog, at least a handful of people will get to understand that. My child is amazing, she brings us tremendous joy. We have good days & bad days, but we CHOOSE to focus on the good. Our belief is that by loving our daughter, giving her the most comfortable environment we can, and by most of all accepting her differences, she will continue to blossom--in her OWN way.


Mito-Autism Study

PhotobucketOkay, I'm a couple of days late on this, but seeing as I've written quite a bit on mito, figured I must add it to the list. I've included the parts which I feel have been overlooked by many who have jumped on this study, declaring that MANY autistic children MUST have mito.

Again, the whole fuzzy math thing--read each word and realize when the statistic of 74% and 78% are concluded, that is among 41 children who were SUSPECTED of having mitochondrial disease. These were not just a random sampling of autistic children. These were children who more than likely had other health issues, along with abnormal lab results (which led them to Shoffner and these further studies).

Mitochondrial Dysfunction May Play a Role in Autism Spectrum Disorders Etiology

The statistics many are reading and running with:

Here at the American Academy of Neurology 60th Annual Meeting, a retrospective analysis of 41 children with ASD who were being evaluated for suspected mitochondrial disease showed that 32 (78%) had defects in skeletal muscle oxidative phosphorylation (OXPHOS) enzyme function and 29 of 39 (74%) harbored abnormalities in the OXPHOS proteins.

Again, I can't state it enough: this is NOT a random sample of autistic individuals. These are children who were already suspected of having a mitochondrial disorder.


"Obviously, autism is not a single condition but a true spectrum of disorders. There are many ways in which the genes can go awry, and our hope is that this study will open the door to a greater understanding of at least 1 subset of this patient population with metabolic and enzymologist changes," he said.
I'm curious to see if Dr. Shoffner feels that such changes in genes comes from the parents, or via vaccines, environmental toxins, etc. as Dr. Poling & Kirby promote. His point of autism being "a true spectrum of disorders," and that this is only "1 subset" of patients, would lead one to believe he is not ruling out genetic factors (ala Jenny, who seems to feel there are zero genetic causes for autism). So, again, for the anti-vax group, this is not a definitive finding in their favor. Not by a long shot.

However, he added, further research in unselected populations of autistic patients is needed to confirm these findings.


Lisa Jo Rudy makes some great points on the significance, if any, of this study.


Caroline Rodgers said...

You make an excellent point regarding the high percentage of autistic children with mito being drawn from a group already suspected of having mito problems.

However, whatever percentage of autistic children have mitochondrial issues, it is important to find out what is causing them when genetic factors are apparently not involved. One possibility that deserves more attention is the role that prenatal ultrasound may play in causing mitochondrial damage. A 30-year-old study found that ultrasound could cause "irreversible" damage to mitochondria. To find out more about this subject, check out Section 6, "Effects of Ultrasound on Biological Systems," at www.inchem.org/documents/ehc/ehc/ehc22.htm.

S.L. said...

Thank you, Caroline for that study. I will review it further this evening. Of course, the first thing that ran though my mind was that my first pregnancy was considered high-risk. I received more ultrasounds than anyone I know, literally once a month, and then every 2 weeks in the last trimester (along with weekly non-stress tests in the last 6 weeks). My first daughter does not have autism or any of the developmental delays as my second. My second pregnancy, I had one Level II sonogram, and then about 3 regular ultrasounds for the entire pregnancy.

Thanks again for that link.

Anonymous said...

We have had several rounds of mito testing done. So far all negative. We are considering going back for more this Spring.

I don't see any harm in people having their children tested if they have problems. I think more kids should be genetically tested as well. I think it would help answer some qestions and lead people away from vaccines and other odd things as being the cause.

S.L. said...

Marla: I agree. Apparently, our experience was quite different from most (perhaps given our daughter had signs of delays & other issues from very early on--less than 6 mos of age). We went through all that genetic testing, and then mito testing. After all those negatives (& months of hearing "autistic features" et al), we then received the autism dx.

I'm a huge proponent of ruling out genetic disorders, even mito (if a child's medical history warrants it). It's the fact that so many children with no signs of mito will be subjected to testing (my main concern being the biopsies), mostly because of their lawyer's suggestion. That's what drives me nuts!

From reading your blog, I see why you'd be looking into mito. The CVS and other issues, can sometimes occur with mito. Feel free to email me (stopthinkautismATgmailDOTcom), if you decide to get further testing. I can give you some doctors' names & more information, if you like.

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