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Showing posts from January, 2018

Ambitious about Autism? All roads lead to Las Vegas

There are many odd things in the world of autism. One is ABA (Applied Behavioral Analysis), the gold standard therapy in North America, where it is seen as evidence-based.In the rest of the world there is very little ABA and that same �evidence� is not seen as conclusive. Raymond in Las Vegas with his �assistant� Charlie
In the US, Federal Government funded very early intensive intervention is available to anyone under three years old with an autism diagnosis. The �evidence� shows that such very early intervention can change the outcome.But why stop at three years old? What is magical about 36 months of age? After this age some people continue to get intensive intervention and some do not; it all depends where you live and who wants to pay. If the evidence is so strong that very early intervention is so effective, why do rich European countries leave it to far older than 36 months to even diagnose autism? Much does not add up in the world of autism. Personally, I am a fan of ABA as a teach…

Glass Syndrome / SATB2-associated syndrome � Osteoporosis and ER�

The world�s longest glass bridge is in China.

Today�s post is about Glass Syndrome / SATB2-associated syndrome, it occurs when something goes wrong with a gene called SATB2; there are several variants because different mutations in this gene are possible. Glass Syndrome / SATB2-associated syndrome is another of those single gene types of autism, so you can think of SATB2 as another autism gene.As we will see in today�s post SATB2 is involved in much more than autism and is very relevant to osteoporosis and some types of cancer.While autism caused by SATB2 is very rare, diseases in old age quite often involve the SATB2 gene being either over expressed or under expressed. As a result there is much more research on SATB2 than I expected.The current research into Glass Syndrome / SATB2-associated syndrome is mainly collecting data on those affected, rather than investigating therapies. There are some links later in this post, for those who are interested.The research into SATB2, unrelated t…

How much Histidine? Dermatitis and FLG mutations

Today�s post is not about autism, it is about allergy and atopic dermatitis in particular. Many people are affected by atopic dermatitis (AD), also known as eczema; it is particularly common in those with autism. Children who develop asthma have often first developed atopic dermatitis (AD). Atopic Dermatitis is another of those auto-immune conditions and the sooner you stabilize such conditions the better the prognosis.



Skin therapies from a company spun-off from Manchester University

Histidine A while back on this blog I was looking at the various amino acids and came across the observation that histidine, a precursor of histamine, appears to be a mast cell stabilizer. Mast cells are the ones that release histamine and IL-6 into your blood. Histamine then does on the trigger yet more IL-6 to be produced.IL-6 is a particularly troublesome pro-inflammatory cytokine. At first sight giving a precursor of histamine to people who want less histamine seems a crazy thing to do, but plenty of people…

A RORa Agonist for Autism?

Today�s post is again about RORa, which was suggested to be a nexus where different biological dysfunctions that lead to autism may converge. I think you can consider RORa like a dimmer switch on your lights, you need to adjust the brightness to give the effect you want.


Fine tuning RORa to tune autism gene expression
I recently came across some research where the scientist clearly has the same idea. He has been working on a synthetic RORa/? agonist for some years and has investigated its use as both a cancer therapy and an autism therapy. I have become rather interested in cancer therapies because there are so many overlaps between what can lead to cancer and what exists in autism. The big research money is of course in cancer research. Tumor suppressor genes/proteins like PTEN and p53 have been shown to be disturbed in autism, as is Bcl-2. The Bcl-2 family of proteins regulate cell death (apoptosis); some members induce cell death and other inhibit it; the balance is important. Generally…