Comments on: Mitochondrial Disease and Autism: How common?

By: Marla

Marla — Sat, 06 Dec 2008 21:32:59 +0000

I think all children with Autism would benefit from mitochondrial and genetic testing. It is frustrating to me that it is so very expensive and most parents would not be able to afford the testing. It could reveal some very interesting answers about Autism. We have more mitochondrial testing to do and genetic testing.

By: Roger

Roger — Mon, 01 Dec 2008 22:23:22 +0000

As I have said here,I have finally gotten the diagnosis I deserve of atypical autism,but I have yet to find an answer for all of my other medical problems.I had thought for ages that I had a primary immune deficiency,but I was also able to get tested for every single one,and I didn’t have a one of them.Most of my tests for autoimmune disease have come back normal,with the exception of anti-RO/SSA antibodies.So mitochondrial disease is now a big consideration.

I do not have hypotonia,but I have a profound lack of muscle development in my upper body.

After my diagnosis,not only of autism,but of all four NVLDs,and assorted cognitive problems,was formalized,I went down the list of all of my medical problems,and plugged them into Google with “mitochondrial diesease”,and saw what I got.Recurring meningitis,children’s interstitial lung disease,and inflammatory bowel disease were all easy matches.Recurring shingles/herpes zoster,and carditis,which have been big problems for me in the past couple of years are there,but less so.Arthritis,which I have had continually since the age of ten,seems to be rare,if not unknown in MD.But what I found especially depressing was the lack of treatment options.

By: Emily

Emily — Sun, 30 Nov 2008 02:44:41 +0000

In other words, 24 of 25 children with mitochondrial disorders who were dx’d with autism had a distinctive suite of biochemical and other signs not generally found in autism? In other words, they had problems associated with mitochondrial disorders? In other words, our diagnostic approach to delineating autism uses an ax rather than a scalpel, turning “autism” into a catchall dx when no one feels like digging any deeper, delineating any more finely. Once upon a time, we thought any unusual behavioral manifestations were attributable to witchcraft or demon possession. Now, we just call it “autism.” Until we identify a biochemical profile to extract a “subset” of people who really have a mitochondrial disorder.

TH is notably hypotonic in his upper body but not so in his lower body. It’s his trunk and arms, primarily. He walked on time, just shy of 12 months. Crawled at 9.33 months, but he was also quite large, and anyway, that makes sense with his trunk deficits. Our middle son actually walked later, and our youngest didn’t walk until 14-15 months, didn’t crawl until 1o+months, and retained some infant reflexes past his second year.

By: Leanne

Leanne — Sat, 29 Nov 2008 23:18:15 +0000

My older (and NT) son didn’t walk till he was 15 months old. Patrick, however, terrorized us by running at 9 months old.

By: Kristina Chew, PhD

Kristina Chew, PhD — Sat, 29 Nov 2008 17:22:16 +0000

My sister walked at 18 months and I’ve told I did too (though I kind of wonder if I just asked a lot to get carried!).

By: Norah

Norah — Sat, 29 Nov 2008 14:13:01 +0000

I started walking much later than Charlie, and no one ever even blinked about it. I can’t imagine they didn’t notice all my delays with walking, sitting etc, but apparently it was no cause for any concern.

By: Navi

Navi — Sat, 29 Nov 2008 11:27:26 +0000

15 months isn’t actually considered late. When my 10 yr old was an infant the developmental material stated walking occured btw 13 and 15 months… Though I know of very few children without physical problems that walked that late, besides my son. As I’ve mentioned before, he regressed after walking… (he actually took a few steps at a time at 13 months but didn’t really walk until 15)