Friday, 19 July 2013

Is It Really #Autism?

This post has been brewing for quite awhile, but with all of the hoopla over vaccines, the "causes" of autism and possible other conditions with a similar presentation to autism I feel like it's a good time to share this.

So here's the thing about autism- there is no absolute test for it, right?  The diagnosis is made by assessment of behaviors, deficits, communication problems.  Parents are urged to complete the M-CHAT which is a comprehensive list of questions about their child at specific ages, and if red flags are there, further assessment is completed by a developmental pediatrician.  Having your child assessed by the school system is not adequate.  They can give your child a disability "label", but this should not be confused with a diagnosis. 

Because there is not a blood test that gives you a definitive diagnosis, people at times question if a child "really has autism".  The bottom line is, if they meet the diagnostic criteria, they have autism.  Could "autistic" behaviors be caused by something else? Good question.  Right now, we treat the behaviors, not the cause- or at least the medical community at large does.  And some children respond to alternative treatments, some do not.  Some parents have seen their children regress into autism, and others have seen the issues all along.

Why is this?  Is it possible that maybe not all cases of what is diagnosed as autism are autism at all?  I think that this is a very real possibility.  I also think that the idea that autism could be an autoimmune disease or at least be regulated by a similar mechanism, makes a lot of medical sense.  So many people with autism have other autoimmune problems, either themselves, or within their families.

I know that we, as a family, have a history of crohn's disease, rheumatoid, autism, and other chronic autoimmune bowel conditions as well.  I cannot tell you how many other families we know fit this pattern.  This is one possible way to understand the huge increase in autism in recent years- what other disorders have increased?  Crohns, rheumatoid, fibromyalgia, diabetes, celiac, lupus.  These are all autoimmune disorders right?  It also goes back to the idea that there is no such thing as a genetic epidemic.

"With the rapid increase in autoimmune diseases, it clearly suggests that environmental factors are at play due to the significant increase in these diseases. Genes do not change in such a short period of time."

So if autism might be an autoimmune problem, it makes me wonder, are there other autoimmune disorders that cause symptoms of autism.  For instance....celiac    Is this why the gluten/casein free diet is life changing for some kids with autism and not others?  Could there be underlying celiac disease?
The latest statistics say that 1 in 91 children have a diagnosis of autism. At the same time, it is now estimated that 1 in 100 individuals has celiac disease. Both of these conditions have paralleled each other in their increasing diagnosis over the years and recently, parents have been making the link, putting their children on gluten/casein free diets. However, what is behind the association between gluten and autism? Is there a link? Several studies say there is.
An association has been observed between children who have gastrointestinal symptoms and a family history of autoimmune disease as well as language regression (Valicenti-McDermott, McVicar, Cohen, Weshil, Shinnar, 2008). The study included 100 children with autism spectrum disorder. According to their parents, those with language regression more frequently suffered from abnormal stool patterns (40% versus 12%) and 24% of the children with language regression had an increased family history of celiac disease or IBD while none of the children without language regression did.
A smaller study of only 21 patients with autism found that 9 of the participants had an increased intestinal permeability compared to the control group (D’Eufemia, Celli, Finocchiaro, Pacifico, Viozzi, Zaccagnini, 1996). The study does not mention celiac disease, but it is important to note that it is a well known cause of increased intestinal permeability.
We are fairly certain that yes, a link between celiac disease and autism is there. But has it been shown that a gluten free diet might help ease the symptoms of autism? A 5-year-old boy diagnosed with severe autism and suffering from gastrointestinal symptoms was placed on a gluten free diet and given nutritional supplements in a clinical study (Genuis, Bouchard, 2010). Not only did his GI symptoms quickly resolve themselves, but his symptoms of autism also progressively subsided.

And now a little more to make your head spin....

Untreated celiac disease may be associated with hyperhomocysteinemia caused by a combination of vitamin deficiencies and variants in the MTHFR gene. Abnormalities do not consistently improve with gluten-free diet.  The abnormal findings could result from vitamin deficiencies or variant MTHFR status. Possible clinical implications for patients with celiac disease and hyperhomocysteinemia are reviewed.

Huh, so these people with celiac only improved when folic acid was added to the gluten free diet- and this was due to MTHFR variants.

I just don't know what I think about this yet.  What I do know is that based on some of the genetic issues I have read about with regard to autism, this seems to start tying a lot of things together, at least for me. 

If you recall from past posts, MTHFR mutations have also been suspected as a possible cause of autism.  My son's both have them.  This is confirmed.  (
This is why I hold fast to the idea that the medical community is as of yet clueless about what is causing autism.  There are leads like these out feels to me like people are either ignoring or discounting them.  Oh, and look at this....nothing definitively said, but it is something to think about.

I know many will disagree with me on all of this- but this is not even my opinion so much as me reading data that is readily available.  From reputable sources.  And this is just one of many theories.  That being said, I can see the logic.  Can you? The biochemist and nurse in me just can't let this go.


  1. My son was diagnosed Moderate to severe autism, he also suffers from eczema, allergies(epi-pen worthy), constant diarrhea and now we think he may be having seizures.
    I have noticed that children with autism also have a lot of other illnesses. Usually.

    1. does seem that way- and mostly autoimmune type stuff (allergies, eczema). sounds like you have your hands full over there...

    2. It has been a journey, he may only be 2 but we have has some long doctors appointments. I am very happy we got some of his allergies figured out. His skin still has some patches but at least he is not covered from head to toe anymore.

  2. I've wondered the same thing so many times. My Sophie was always a complicated case with regression, severe digestive issues (which drastically improved after gf/cf diet). We fumbled along and put her on supplements which further helped. And now almost a year since her diagnosis a "routine" MRI revealed that she has a rare brain malformation, may or may not have autism and may or may not have a rare genetic disorder. Of course no one seems to be in a big rush to find out what's what (we are waiting to be seen by specialists).
    I've often thought of the movie "Lorenzo's oil" where the parents figure out what is making their son ill. It feels like this sometimes no? I wonder if Sophie is lacking some enzymes or not digesting a fatty acid or something. She was so sick before her regression. I wish we didn't have to feel so alone in trying to help our kids.
    I'm done now :) sorry about the novel. Sophie reminds me a lot of your Nate, I read your blog regularly.

    1. I read your blog too :-)- you're right over there ----> on my blog list. Feel free to vent anytime. I was just talking to a new autism mom friend earlier, and I asked that scary question- are you guys using any supplements. The flood gates opened for both of us. It's amazing what we do. Hope you guys are holding up ok!