Autism Street

A local 12 News reporter here in Phoenix, apparently announced the discovery of a genetic cause for autism on Thursday.

“Doctor Dietrich Stephan analyzed these genechips carrying DNA of children with Epilepsy and Autism on these machines and discovered a genetic cause for both.” 

You can read the entire online 12 News article here. (Warning: may contain eugenics)

In reading the actual study that apparently inspired this news - it says no such thing, and it’s specific to a seizure disorder, within the Amish.

Was this responsible journalism? I think it difficult to conclude that it’s not misleading, given that the study was of genetically isolated population and itself essentially concluded, without reference to autism:

“It remains to be seen whether mutations affecting CASPR2 or its associated proteins will be identified as causes of symptomatic childhood-onset epilepsy outside of the Old Order Amish community.”  

Let’s look just a little bit closer at this study of nine Old Order Amish children with cortical dysplasia focal epilepsy (CDFE), in which six of the nine were diagnosed with PDD or autism, and all nine were diagnosed with mental retardation.

From the introductory summary:

“Intractable focal seizures began in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation developed in all children. Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2.

And from the end of the discussion:

“However, the clinical and etiologic heterogeneity among the many reported patients with symptomatic focal epilepsy precludes meaningful comparisons, and the electroencephalographic, radiologic, and neurodevelopmental features of the CDFE phenotype were nonspecific.”

I certainly don’t want to say that such research may not be a scientific achievment (especially when looking at some of the newer laboratory methodology). Such research could provide some real understanding - especially to the Amish in this case. Will understanding of the genetics involved with CDFE among the Amish lead to understanding of autism in general? Maybe. Here’s T-Gen’s press release about the study, which says:

All affected children had relatively normal development until the onset of frequent intractable seizures in early childhood. Thereafter, they developed language regression and additional features of autism, possibly implicating this gene as a cause of autism in the general population. 

Has a genetic cause of autism in general been discovered? Not according to the study.

Two things are certain: There are at least six Amish persons diagnosed with [edit: by DSM-IV criteria for, see Michelle Dawson's comments] autism, and the local news here in Phoenix, overstated the facts when they generally claimed a genetic cause for both Epilepsy and Autism has been discovered, without mentioning the Amish in their article.

In Kathleen’s Neurodiversity blog entry ”An Exchange Of Views“, she documents correspondence with Dr. Richard Deth (I understand it’s pronounced, “Deeth”), about his potential involvement with the Autism Omnibus Proceeding as an expert witness.

Dr. Deth’s second-to-last sentence caught my attention:

“However, I would like to make a virtual wager that within the next 18-24 months scientific evidence will make the thimerosal-autism link a near certainty.”

I wonder what Dr. Deth’s take would be on the ethics of the chelation research that is currently underway at the Southwest College of Naturopathic Medicine.

Note: this research protocol was “nixed” by the IRB of Arizona State University, according to Dr. Sandy Newmark.

It’s pretty clear that Dr. Deth acknowledges that today’s available scientific evidence does not make the Thimerosal-autism link a “near certainty”, since he speculates that this will happen in the next 18-24 months. Speculating that it will happen, cleary implies that this has not happened yet, in his opinion. If the available scientific evidence is not “near certain” today, would he view the SCNM chelation research ethical?

Let’s review the minimum scientific ethics that should have been required by an IRB, prior to approval for research with human subjects.

Forget any safety concerns (that might or might not have in the absence of existing long-term studies about the safety of DMSA chelation therapy for autistic children). Forget about any conditions of informed consent that may or may not have been met. Forget about the requirements for appropriate medical supervision that may or may not be in place.

From Sanford Newmark, MD’s website: “Dr. Newmark is personally experienced in the areas of nutrition, nutritional and botanical supplements, general pediatric medicine and mind-body medicine”.

Forget about the use of a mail-order lab, its associated potenitally artificial reference ranges, the non-standard methodolgy, and associated lack of normative studies for the provocation and collection methods in use. Forget about the inadequacy of appropriate control group matching, or lack of measurement and tracking of effects of other therapies or interventions.

Let’s stick just to the ethics of the basic science shall we?

Step 1. Scientifically establish mercury-autism link.

Step 2. Scientifically establish actual mercury toxicity of people with autism

Notes: Step 2. also requires that the toxicology methodolgy be proven and supported by normative studies. The term “scientifically establish” means through the process of real peer-review and publication. Repeatability and subsequent scientific verifiability of results is required. Publication in special-interest journals that are not indexed by a source such as PubMed (where an IRB should require reference to correlative research) doesn’t count.

With the presence of both 1 and 2, move on to 3.

3. Conduct reasearch about how reduce/correct mercury toxicity, and document effects on human research subjects.

Here’s a little ethics quiz for Dr. Deth

Assume that you really think (not believe) that conclusive scientific evidence of a Thimerosal-autism link is soon to be published, or is even inevitable. When will chelation research as an “autism treatment” with human subjects be scientifically ethical?

A. It’s ethical now
B. Not yet, but within 18-24 months
C. Only after both steps 1 and 2 have been completed
D. It will never be scientifically ethical

Please choose the best answer.

Do not miss the analysis by Prometheus of Photon In The Darkness about the statistical probabilities of receiving false positive results (even without provocation) by employing lighter reference ranges for certain heavy metals - a practice apparently common among the Mail Order Labs.

You can read his post “Mercurial Laboratories” here.

If you missed my post on how DDI is being used in Phoenix for determination of toxicity prior to chelation (by maybe, but not necessarily appropriate physicians and potentially by a non-medical person) within a so-called ‘research’ study, reading the post by Prometheus first (what results are expected) might shed some serious light on the potentially ill-conceived nature of the Southwest College of Naturopathic Medicine’s so-called study (how those results are being used).

I frequently read the commentary by James Randi over at the James Randi Educational Foundation. As many of his readers are aware, Mr. Randi recently underwent heart surgery and has had guest authors writing his weekly investigations into reality.

Last week’s commentary was written by the Author of “The Skeptic’s Dictionary”, Robert Todd Carroll. Why is this interesting to me? Because he writes about the latest ruse by Dr. Adrew Weil, an Arizona physician/entrepreneur. 

Andrew Weil, the guru of “integrative” medicine (a fancy word for integrating quackery into conventional medicine), was recently featured in a large newspaper ad for Macy’s line of Plantidote™ Mega-Mushroom Facial creams. We’re asked to “discover his latest skincare wonder,” which consists of blended mushrooms and other goodies such as ginger, turmeric, and holy basil. Here is what Weil has to say about holy basil:

Holy Basil Batman, this is gonna be good. Not really, because Weil simply goes on to describe that the available science is only relevant to animals so far, and then he goes on to offer not much more than suggestions, mights, and maybes. Mr. Carroll’s commentary on such medicinal advice is relevant and doesn’t miss the financial implications for Dr. Weil.

Since we can’t be certain holy basil will be useful as an antioxidant, it ought to go into our facial cream. That makes sense.

For $60, you can get 1.7 oz. of Plantidote™ Mega-Mushroom Face Cream which, according to Dr. Weil, “can help skin stay calm.” So, if your skin keeps jumping up and down, this might be just the product for you.

And after a look at why Dr. Weil probably chose some particular mushrooms in this facial cream, Carroll points out what looks like a fairly clear reason for Dr. Weil to be involved with bringing such a wonderful medicinal benefit to Macy’s customers.

Lest you think that Weil is in this for the money, consider this: he donates all of his after-tax profits from the sale of these products to himself! Yes, he proudly announces that all the after-tax profits go to the Weil Foundation, established to integrate quackery with 21st century medicine. What a guy!

Why the hell am I writing about this on an autism blog? Ducks and Birds.

The good doctor Weil is the very physician who so highly recommends Dr. Sandy Newmark (apparently his educational progeny from the U of A’s Program in Integrative Medicine). Dr. Newmark is the MD/Pediatrician who describes himself as “personally experienced in the areas of nutrition, nutritional and botanical supplements, general pediatric medicine and mind-body medicine”. He is the ”apparently not experienced in toxicolgy or real pediatric mercury poisoning”, “apparently not a developmental pediatrician”, who is responsible for the health and safety of some of the children participating in the Southwest College of Naturopathic Medicine’s chelation study here in Arizona. It’s a small world isn’t it?

Speaking of small worlds, I had a brief e-mail exchange with Robert Todd Carroll about this subject. As it turns out, he’s also commented on the forthcoming UCLA of Davis study (it’s spelled correctly, follow the link) about Thimerosal and dendritic cells of mice over at the Skeptic’s Dictionary website.

By the way, Mr. Carroll also cites Interverbal’s recent work in reviewing the Geiers claims about California autism trends. The Geiers paper (apparently not peer-reviewed and available on Pubmed) has been pretty well discredited by so many other bloggers that I don’t want to try to make a comprehensive list, so I’ll list three others that immediately come to mind:

Autism - Natural Variation, Bartholomew Cubbins, and Orac.

It is a small world indeed.

I’ve imported the posts and comments from the Blogspot Autism Street.

It’s going to take me a while to go back and adjust formatting on many of them, but I do plan to do just that, 1 at a time working back.  There are many conversations where the imported formatting can make it difficult to determine who is doing the speaking, but that is easily corrected. I’m just going to need a week or so to go through them all. In the meantime, the blogspot Autism Street is not going away.

What does it mean to have a child “diagnosed” with autism?

I like to use what I’ll call, “The Baseball Analogy”.

Now I am most definitely not a sports fan, I just don’t get sports. Don’t get me wrong, I thoroughly enjoy participation - I grew up in southern California with “Surf P.E.” at a local break every other morning. But as for watching sports, following sports scores, reading a sports page, etc., I just don’t get it.

I like to think I know enough about baseball from my little league days, to describe this as I intend. For me, the early recognition of the characteristics of autism was a pretty simple process of denial. My wife persisted, and after a lot of persuasion, we took our son for a visit to a local reputable child psychologist (after a wait of several months for an appointment). I was not prepared for the conclusions presented in that visit.

In the world of baseball, it’s what you’d call a Curveball.

Although I had no knowledge of this at the time, the Dr. we saw apparently has some sort of reputation in the community as a “Doom and Gloom” doctor. I don’t think that at all, in fact I found our doctor’s manner quite factual, unwilling to allow for speculation, and essentially “by the book” when it came to documentation, DSM criteria, other attributes, scoring of tests, and professional integrity.

I see it plausible that any parent could have heard the following diagnosis of our son in two very different ways. Note: This only applies to human parents (subject to emotion, expectation, and social filters). My comments do not apply to robots or aliens.

The ball curves one way…

The Doctor

Your son is autistic. He isn’t interested in any communication with us.
He is consistently spinning things, and you will see additional things like hand flapping.

Us

What does this mean, if it turns out that has autism?

The Doctor 

He is different, you may feel like you’ll want to give him back. There is mental retardation. It will mean difficulty in school.

Us

Oh No! (with some unavoidable tears of fear and uncertainty)
What does this mean for our son as he grows older, what will his life be like?

The Doctor

I can’t answer that, but you’ll know.

Us

Okay, what can we expect with autism?

The Doctor 

I can only tell you: Autistics don’t marry. Autistics don’t smoke. Autistics live with parents or a caregiver for life. Autistics can communicate, although communication is not easy.

The ball curves the other way… 

The Doctor

Your son definitely shows many of the signs of that would indicate autism as the most likely appropriate diagnosis. He isn’t appearing interested in us or any communication from us. He is consistently spinning things, and you may, or may not eventually see additional things like hand flapping.

Us

What does this mean, if it turns out that he does have autism?

The Doctor

It simply means that he has several traits that most people will view as different. But he is lovable, you’ll never want to give him back will you?
There is possibility of mild mental retardation. It will mean needing to be open to addressing potential difficulties in school on his behalf, and helping him when he needs it.

Us

Oh no! (with some unavoidable tears of fear and uncertainty)
What does this mean for our son he grows older, what will his life be like?

The Doctor

You, know, I just can’t answer that, because I don’t know. But you will know. When he gets there, you’ll know, he’ll do a good job of letting you know, you won’t have to wonder.

Okay, what can we expect with autism? 

The Doctor

I can only tell you a little about what I do know, based on information we have today. People with autism typically don’t marry. People with autism typically don’t smoke. People with autism often live with parents or a caregiver for most of their life. People with autism can be happy. People with autism can communicate, although communication is not always easy to accomplish in a way that you’ll want. It will just depend on him.

Back to the baseball. 

Regardless of which way anyone else might see (or hear) this kind of diagnosis for the first time, it was curveball to us. I’m not intending to criticize anyone who would see this conversation one way or the other. We are all human and all different. There is no right and wrong in how you first hear this. It ain’t winning the lottery to many, but that doesn’t mean it is a sentence to a life of misery by any means either.

It is a curveball - period.

Many curveballs become homeruns.
The ball is already on the way, all that matters now is what the hitter does.

In my lame analogy (I’m sorry sports just aren’t my thing) I’d actually expand to suggest that life in general, and especially life with autism in the family, can seem a non-stop barage of curveballs.

Learning which ones not to swing at, is important too - letting the pitches that aren’t strikes, float on by, counts.

Read up on alternative medicine, treatment scams, and quackery - be skeptical. Understand meltdowns and stims before you swing (figuratively) at them. Skip enough of the crappy pitches and you will walk and take a base (helping others on base too).

Base hits count.

Celebrate small successes, encourage happiness, foster learning and appropriate proportion of fun. Speak out on behalf all children, especially if they’re your own.

Sometimes bunting works too.

I’m not sure how that fits into my anaolgy though.

Batter Up!

Welcome to the new Autism Street blog. The old one will remain up at Blogspot as long as they’ll allow it, so don’t worry about linked articles, etc.

I’d been wanting to move for some time. It’s not that Blogspot wasn’t great, but my new host means some great new features - like Wordpress. Wordpress offers some flexibility that just wasn’t available on the old blog; inline comment preview, categories, and incredibly easy link management.

Now that my move is complete, I’m looking forward to sitting down and reading Estee’s The Economy Of Pity.