2.05.2013

More autism findings (if you're into this kind of thing)

I mentioned before that I oscillate between autism burnout and reading everything autism-related trying to piece the puzzle together. I was in the autism burnout stage for the past two months or so, but a new study pulled me out and into the research stage again. Of course while researching online it is very easy to get sidetracked onto different tangents, so my research binge actually brought three different and interesting studies to my attention. Perhaps others might find some interest in them too.

Study 1 "gut bacteria"

Why is relevant to me: Sophie always had a delicate digestive system. Her regression was spearheaded by a massive gastointestinal illness which consisted of diarrhea and vomiting for 2 weeks. We had put her on the gluten and casein free diet and noticed almost immediate improvement. She has been on it for almost a year, and we have since eliminated corn and soy too, along with dyes, artificial flavourings, etc. I was always interested in the gluten theory of "leaky gut" and malabsorption of nutrients, but was wary of jumping to conclusions (being the skeptic that I am). Prior to the diet change Sophie lost a ton weight and just looked ill. She also sweated profusely and her sweat had a very unpleasant odour. That instantly disappeared when we removed gluten from her diet. I don't think that gluten intolerance caused her autism. I do think that a lot of autistic children display symptoms of metabolic disorders combined with other physical symptoms and Sophie seems to be one of them.

While the topic of digestive problems being associated with autism isn't new per se, this study actually did find a link between a malabsorbed fatty acid and neurological damage. It also uncovered a compound called carnitine which was lacking in a lot of the subjects tested. Considering Sophie's regression and physical improvement on the diet I do think its a relevant finding. Of course they still haven't come up with a specific treatment plan to reverse the damage, but I think they're on the right track. I was always wondering if there was some special fatty acid metabolism deficiency that was causing her problems and damage to her brain (not because I'm a biology genius, but because I watched "Lorenzo's Oil" when I was a teenager).

Also, this project is part of a collaborative effort which is, as far as I know, the first large-scale study that involves researchers from several vastly different disciplines (behavioural neurobiology, genetics, epilepsy, neurotransmitter systems, toxicology, sex hormones, diet, metabolism, immunology and microbiology) combining their efforts and trying to look at the "big picture" of autism together. I will be following their efforts with much interest.

Study 2 "autism, hypo pigmentation and vitamin d"

Sophie's "dark side"

Why it's relevant to me: Sophie has a very unique form of albinism which no doctor was able to tell me much about. Basically she is lacking pigment on the left side of her head, causing half her hair to be very light blond, and also her left eyebrow and set of eyelashes (the rest of her hair is brown). Her skin is porcelain, and her eyes a pale blue, which is not typical in our family. All our other children have dark brown eyes and a slightly darker complexion. I did some research when she was born, more out of curiosity than anything else. Of course we thought she was beautiful, and so unique. I vaguely recalled reading somewhere that white streaks could signal rare genetic conditions but didn't find it applying to Sophie.

Note the difference in eyelash and eyebrow colour

 

This study makes some connections with lack of vitamin D and autism, which I have also read before. But in this context, combined with the hypo-pigmentation, it really struck a chord with me. The questions the study raised- would the albino child be autistic because of vitamin D deficiency in utero, or was he deprived of vitamin D (as sunshine) because of his larger vulnerability, as perceived by his parents (I know I did shield Sophie from the sun more than my other babies in her first year). They also raise some questions on genetic predisposition to albinism, Autism and the role vitamin D plays in both.

So I added vitamin D on top of the multivitamin she is already taking and bought an omega 3 supplement. She has been on probiotics for a long time. I am also looking into either a carnosine supplement , which apparently works well for lots of autistic kids, vs carnitine, the compound that was mentioned in the metabolic study but want to do more research first.

Study 3 "the shutdown"

Why it's relevant to me: This is really something. When Sophie is faced with a new situation, specifically when she feels there is some expectation of her (an assessment, a doctor's appointment), she literally falls asleep within 5 minutes. I wrote about this before, thinking it's a "Sophie thing". Doctors were baffled, the developmental paediatrician referred us to a neurologist, she had the sleep study... Apparently nobody ever heard of something like this.

Well, I stumbled onto this article while doing some mindless blog hopping and read this;

A shutdown is a particular sequence of behavior which we observed in a child diagnosed as high-functioning within the autistic spectrum. In academic settings when pressured by an adult to perform tasks that were difficult, she became unresponsive, sleepy, immobile, and limp to the touch for several minutes, and then fell asleep in a chair for as briefly as 10 min. and up to 2 hours. These shutdown (SD) states were always triggered by social stress of a certain kind and they became more severe and frequent over a period of about a year.

It describes Sophie perfectly. The article lists many different types of shutdowns (the above is termed "full shutdown"), including speech, language, visual, motor, etc. There are testimonials from autistic people describing how they feel during a shutdown and how they cope. The article also poses a theory that regression might just be a long term shutdown, same as loss of specific skills. It is definitely a very fascinating read, and a topic I will look into more.

And there you have it. The most relevant findings from my studies over the last week. There is so much discrepancy in the autism community, so many avenues of therapy which seem almost mutually exclusive. But I am not much of a joiner and don't enjoy exclusive clubs. We are still early on in our journey and don't want to prematurely close any doors. Recently a friend told me that she read that autism being a spectrum, there is also a spectrum of interventions that work and just because one works on one child it does not mean it would work on an other. For example, some kids might respond to 40 hours of ABA a week. I don't think that Sophie would at this time. Or maybe never. Some kids might present more with the "autism as a whole body disorder" series of symptoms. I think Sophie is one of them. She is just so unique among our children, and not just because of autism. But I guess the main reason I keep researching is that I don't want to give up. I don't want to have regrets down the road of "maybe we should have tried this or that." Wherever this journey takes us, I want to be able to look back and say "we did all that we could".

 

 

7 comments:

  1. This was fascinating to read, and I love the way you write about it---not as "This is what will cure your kid (or even my kid)" but "This is some information that seems relevant to our situation, and it might help others, too" That is wonderful, and rare in blogs!

    It seems somewhere far back in my mind I remember reading something about a connection between autism and being lighter skinned than the family background would suggest. Sophie's condition sounds pretty unique, but that is an interesting connection. Janey is very blond and blue eyed---I have blue eyes but I was never that blond, and my husband is Italian with dark hair and eyes. William, my older son once thought to be on the spectrum, is also quite light, and he has areas on his back of skin without pigment---I forget the name of this, but they check for it with a special light!

    Thanks as always for your blog.

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    1. Aww Suzanne I know better than saying "this will cure your kid", lol. If I knew what would, I'd have cured mine by now!
      However, I do have a nerdy, needing answers side and I'm telling everyone I think there is more to autism than meets the eye. I don't claim to know what exactly, but I do find actual scientific research into the subject fascinating (not pseudoscience, I have no patience for that). Its probably the same aspect of my personality that loves documentaries, history and psychology- I like to understand everything, and not just skimming the surface, knowing EVERYTHING. So you see how autism just drives me nuts, lol.
      Thanks for reading, it's nice knowing I'm not just talking to myself.

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  2. Wonderful! I love it. I wish more parents were more open to expanding treatment options. Well said.

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  3. Sounds like we are in a similar place on our journey. I can very much relate to the back and forth between absorbing myself in autism information & being completely burnt out on it. I was so overwhelmed after the diagnosis I just had books & information sit around me for ages before I could look at it. I can't tell you the number of nights I have stayed up until the wee hours of the morning googling one thing after the other hopping from subject to new subject. I think the bottom line is we just don't know, and that different kids are affected in different ways, so I think it's perfectly natural for some parents to want to learn more about it & try things that make sense for their situation.

    We went to a new DP today so a lot of these things came up in conversation - I was actually impressed how well the poor Dr dealt with my long list of questions. As for the gut bacteria, I'm not sure if you've ever heard of the Body Ecology Diet or the GAPs (gut & psychology syndrome) but those are two you may find interesting to read about. We are getting ready to all do the BED. My husband's half sister has her son on the GAPs (he has a rare chromosome deletion and a somewhat severe case from what I understand) and she feels it has helped his gastrointestinal issues quite a bit (she didn't put him on it to "cure" him as I think most of us know full well there are no "cures" (for now)! We are going to do the BED for a while & we'll see. It's a candida diet that resets your gut & immune system (candida & immune issues run in my family). I just about fell out of my chair today when the DP suggested that based on her years of experience & research she thinks it's tied to immune issues (mind you she is a conventional Dr no natural anything). This in some strange way made me feel like I was not crazy to think that could be the cause for some people. I'm sure I'll blog about my experience with the diet so we'll see how it goes. We dabbled in GFCF but quite honestly did an awful job at it and it was during one of our "burnout" phases so we ended up stopping. I will let you know how the BED goes once we've done it for a reasonable amount of time and I'd be interested in hearing more about how GFCF is going.

    As for the vitamin D and such- I have had problems several times before I got pregnant being deficient in vitamin D (a lot of people are) and our daughter is very pale with light eyes & hair. So she takes extra vit D (as well as omega 3 & probiotics). I don't know about anyone else but the probiotics REALLY help her, a constipated kid who can't speak is not a fun time. Her pediatrician told me that she has a patient who is close to 20 - an Indian woman who has classic autism. The Dr said she had the lowest vit D level she had ever seen in a person. I've never heard of carnosine, I will be researching that next!

    As for the shutdown, our daughter does a variation of that. She doesn't fall asleep but she covers her eyes with the back of her hands or forms her hands in the shape of the letter O and puts them over her eyes and stops making noise the moment she seems stressed about something she interprets we are "making" her do. She'll do this when we want her to do something I KNOW she knows how to do but doesn't seem to be able to at that time like using a spoon.

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  4. O-M-G

    It's official, my comments are the most ridiculously long comments ever. I was just denied to publish my comment because it was TOO LONG! Okay I really need to just start blogging my thoughts instead of commenting them:). Here's the end of my comment haha

    As for the therapies I agree 100%. We feel a little more in control after our visit today about what our next step will be. There's a lot out there and a lot of people who will intensely tell you that this is the ONLY therapy that will help your child thrive, on the opposite side there are people who will tell you none of it works and anyone who tries are chasing the impossible. I kindly disagree with both. Every child is different and so is every parent. We just don't know what the answers are but what we do know is what we think is best for us and our child. Anyone who makes someone feel uncomfortable for trying a therapy or not trying a therapy is just plain out of line in my opinion! That's why I'm glad I found all of you on here. We all have different ways/thoughts, but we are all respectful that what we each believe or we each do or do not want to try is our own choice!

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  5. The connections with lack of vitamin D and autism is really true, that's what I believe in. This is because when my friend's daughter who has this problem was once recommended with vitamin d supplement by their family doctor. Surprisingly, a lot of improvement is seen with the child after taking it for a couple of years. I guess this is really true. I've seen it myself.

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  6. That definitely has some connection related to the autism and it was really good and interesting to read about it. Hope to see more on the same topic soon.

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