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.
|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".