Sunday, July 31, 2005

Somewhere Over the Rainbow - The Search for an Autism Cure

To a humble biologist, like myself, the idea of "a cure for autism" is as simplistic as "a cure for cancer." This isn't because I think that either autism or cancer are necessarily "incurable", it's just that both ideas demonstrate a serious lack of knowledge.

The "cure" part isn't the problem - it's the "a" part.

You see, like cancer, autism is not a single disorder. Genetic studies point to several disorders, with linkages on several different chromosomes. Even a casual reading of case histories and parental anecdotes shows an amazing range of severity, types of disabilities, progression, and accompanying signs and symptoms.

If I wrote up ten or twelve case histories of autism today and tried to conclude that they were all suffering from the same disorder, I would be laughed at. Yet there are people - the autism-mercury cabal foremost among them - that insist ("demand" would be more like it) that autism is a single disorder.

Think about cancer. If we were to lump all cancers together, we would have the same sort of mess that is currently seen in autism. There would be no consistent presentation, no consistent progression of the disease and there would certainly be no treatment that would work on all (or even most) "cancer".

Yet, in a startling parallel, there are people in the world who claim to have found a cause for all cancer and even a cure for all cancer. Like the people who have found the cause for all autism and its cure, they are all - at the very least - terribly mistaken.

So, before we all run off like headless chickens looking for an autism cure, perhaps we ought to spend at least a few minutes making sure we know what autism is. After all, except for the autism-mercury experts, nobody knows what causes autism.

That's right, we don't know what the pathology in autism is. We don't even know, for sure, what part of the brain is involved (we are pretty confident that it is a brain disorder, rather than, say, a liver problem). There are those who feel that it is probably a disorder of the amygdala, but nobody has found any consistent abnormalities in the amygdala of autistic people. In fact, no physical abnormality - genetic, biochemical, radiological or other - has been consistently found in all autistic people.

This, of course, is just more evidence that autism is not a single disorder. To extend the cancer analogy, that would be like trying to find a consistent biopsy in all cancer patients - doing, for example, a lung biopsy in everyone. It would come as no surprise to us that a lung biopsy would fail to show cancer in someone with basal cell carcinoma, just as a skin biopsy would be highly unlikely to reveal lung cancer. So why is it that otherwise intelligent people can't see the reason there is no consistent pathology in autism?

And since we aren't even sure if we're dealing with a single disorder (except that some of us, myself included, are very sure that we aren't), it would seem extremely foolish to start looking for causes and treatments. Going back to the cancer analogy, looking at UV exposure as a cause for all cancers would fail to show a relationship, since pancreatic, lung, liver and kidney cancer are not correlated wth UV exposure - and would miss the cancers that are UV-caused, like basal cell and melanoma because of the "background" of non-UV-related cancers.

Likewise, treatments that might help a sub-set of cancers would not show any benefit when tested against all cancers because of the large number of non-responding cancers included in the subject mix. So too, a treatment that might be effective for a certain sub-type of autism will have its benefits "drowned out" by all the other disorders that don't respond to it.

In the final analysis, it does little good - and probably a good deal of harm - to go chasing off after various hypothetical causes and cures of autism at this point. First, we need to find out what the abnormalities (that's right, plural) in autism are and then sort the patients into their proper diagnostic groups. Otherwise, we're going down the rabbit hole after the "cure for all autism", which - like chasing the pot of gold at the end of the rainbow - is very engaging but never profitable.



Anonymous Anonymous said...

I agree that there is no consensus about what autism is. I disagree with almost everything else.

But I'm open to correction, so I would like to see evidence (versus anecdotes) that there are *no* consistent findings anywhere in autism science. Then I could inform the cognitive scientists I work for that they're bonkers.

Credible scientists working in autism accept that there are two kinds of autism (primary and secondary). A recent study from G. Dawson's group (no relation) takes apart the myth of "early onset" vs "regressive" autism. If you are proposing multiple "autisms", please tell me what they are (you helpfully supplied some kinds of cancer).

Many autistic people (in case you've overlooked this) are very tired of having our differences compared to cancer, and it being implied or assumed that we and the entire world would be better off if autism, like cancer, were cured or prevented. We aren't impressed with the assumption that we want to be non-autistic ("non-cancerous"), and the further assumption that this would be an improvement.

We don't need "treatment" to become less autistic (you would compare to "less cancerous") or not autistic at all ("in remission"? "recovered"?). We need different kinds of assistance and support from the kinds of assistance and support non-autistic people receive as a matter of right. That doesn't amount to "treatment" for autism any more than sending non-autistic kids to schools designed for their needs and getting them help when they have difficulty is "treatment" for non-autism.

Though it would help if someone defined what "effective" means when it comes to autism "treatment", and to supply some science to back up this definition.

But (going back to where I started) I'm sure I could be wrong about the multiple "autisms" (which I realize is a popular view), so could you show me where you acquired your certainty that there are no consistent findings in any area of autism science?

31 July, 2005 18:26  
Anonymous Anonymous said...

I am a researcher in the area of Chronic Fatigue and Immune Dysfunction Syndrome (CFIDS)also known in England as ME, with fybromyalgia as an additional component. Perhaps because research into this syndrome is at its relatively early stages, and it's currently termed a "syndrome" rather than a disease, it's generall accepted that there are most likely numerous manifestations of the illness, with hopefully numerous "cures" and treatments to come, so this would be an area where your thesis also holds.

31 July, 2005 22:50  
Blogger Zaira said...

that is so remarkable.

31 July, 2005 23:30  
Blogger Kev said...

Michelle I think you've found implications that simply don't exist in this post.

Nowhere did I see Prometheus claim there are no consistent findings. I heard him refer to autism being 'not a single disorder' (in other words, a 'spectrum'). You also make mention of regressive/early onset autism - which Prometheus doesn't. At all.

As to his reference to Cancer, most times when we run across this phrase I agree with you that its used in a totally improper and insulting way but in this instance I don't see any evidence of Prometheus using it in any way except as an example of something else that shares a common root but uncommon manifestation.

01 August, 2005 05:06  
Anonymous Anonymous said...

Hi Kev,

I supplied Prometheus with one genuine division in autism (primary/secondary) and one which is not ("early onset"/"regressive") in order to ask him what his divisions are. Please tell me why it was wrong for me to do that. I thought it was fair of me to ask, because he is writing about what kind of abnormality/disorder/pathology I actually have, and also because this has implications for experimental science, in which I'm sort of involved.

Autism and AS are differentiated in work I'm involved in, mostly because of matching issues, but I don't think this is what Prometheus means (if it is, he didn't say so). He does not mention a "spectrum" with respect to autism or cancer. He does not acknowledge a "common root" for autism, instead saying there is no evidence for this.

Comparing autism to a universally dreaded and unwanted disease known frequently to be fatal if left untreated is neither useful nor accurate. Autism is not a pathology which befalls an otherwise normal person.

Science premised on autistic people being normal people with X abnormalities has not been parsimonious, and has often been misleading. The cancer comparison presumes that autistic people are suffering from a disease process disrupting what would otherwise be normal functioning.

Prometheus also equates cancer treatment with autism treatment. This is why I asked him about what "effective" means, re autism treatment.

I expect you can tell me why all this is wrong on my part, and I hope you will.

As for the lack of consistent findings, Prometheus wrote: "In fact, no physical abnormality - genetic, biochemical, radiological or other - has been consistently found in all autistic people."

"Other" should cover behaviour (which is pretty physical), and many cognitive studies are only behavioural (they measure performance in a task, RTs, etc), and functional imaging studies usually have a behavioural component (there is a task).

But I agreed that I could be wrong about this in my first message, and asked Prometheus for evidence that I in fact am wrong. Maybe you (Kev) can tell me why this is wrong also.

01 August, 2005 07:47  
Blogger Kev said...

No I can't tell you you're wrong in any of those instances Michelle - you know far more science than me both generally and as regards to autism. All I'm saying is that I didn't take the implications from the post that you did.

Whilst I personally read nothing intentionally or unintentionally negative to autism, you obviously did. Thats your perogative. I just wanted to say that I think the implications you saw aren't, in my opinion only, there.

01 August, 2005 08:11  
Blogger Prometheus said...

To: Michelle Dawson

I am not your enemy nor am I working against your "side." I feel that the people who are parading around with their purported "cures" and "causes" of autism are bringing more heat than light to the situation. And I feel that the heated rhetoric - primarily by people who don't know what the hell they are talking about - is harming the very people they claim to be helping. In other words - I generally agree with your position.

I think if you look at the posting dispassionately, you will see that I was not comparing the disorder of autism to cancer - which would be a ridiculous comparison. Rather, I was comparing the current status of autism diagnosis, causation and therapy to the obviously untenable idea of all cancers having a single diagnostic criterion, causation and therapy.

I was very clear that the comparison to cancer was an analogy - a way to make my point more readily apparent by comparing it to something that people are more familiar with. I understand that there are people (Lenny Schafer, JB Handley, and others come readily to mind) who do see autism as equivalent to cancer - I do not.

As for all autism having a "common root" - or, as I would have put it, a final common pathway - that is certainly a possibility. It may be so, but there is - so far as I know - no data to support that. There is also no data to refute it, so we are left to speculate.

So far as I have been able to discover, the diagnosis and classification of autism is based on purely behavioral information. In this way, it is no different from most mental disorders. And there has been a long history and tradition of studying mental disorders through observation of behaviors as well as behavioral performance in a variety of formalized testing situations. The problem with using behaviors for diagnosis or even to follow treatment is that behaviors - even in protozoa - are influenced by a myriad of factors.

You challenge me to show that there is not a consistent physical abnormality in autism. I would challenge you to show me that there is one. Just one physical abnormality that is seen in all autistic people. I am only aware of behavioral anomalies that are seen in autism - and I would be willing to wager that even those are not all that consistent without using a broad definition.

I know from my limited experience in ethology (animal behavior studies) that even well-trained experts can unconsciously "fudge" ambiguous behaviors into fitting a certain classification - no doubt this goes doubly for a more behaviorally complex animal such as homo sapiens. This is why behaviors are not (in biology, at least) considered to be physical data. The manifestations of behavior may be physical, but their identification, classification and interpretation are not.

And, as I understand it, "autistic" behaviors are seen in "typical" people, as well - although perhaps not with the persistence, intensity and frequency seen in those diagnosed "autistic". This would make it extremely difficult to put an unambiguous "border" between "typical" and "autistic" behaviors.

If we are to operate under the assumption that autism is a disorder rather than a variation, then there is - according to current medical rubric - a pathology somewhere. If there is no consistent pathology, then either autism is simply a variant (which is harder to argue in the more severe cases) or it is more than one disorder. It is also conceivable that "autism" contains both people with a disorder and people with a variation from "typical".

I would also like to say that I generally mean what I say and say what I mean. If you seem to see a hidden message, it is probably something from your side of the exchange. My whole purpose in posting this blog is to avoid having to use hidden messages and other such subterfuge.


01 August, 2005 08:41  
Anonymous Anonymous said...

Hi Kev,

What I objected to was inaccuracy, the kind of inaccuracy which has not, in my experience (and the experience of many autistics) been benign. At all.

I'm used to working in a context where it was noticed some time ago that autism is not a disease, much less an entity which can be usefully compared to cancer. I've even legally opposed the position that autism is a disease, or can be compared to diseases like cancer. I've been told sometimes that there was support for this position, though maybe I'm mistaken.

Sometimes I forget that the context I work in is very distant from the world at large, in which I'm considered diseased, and if I object to being so characterized, then I'm told I have gotten things mixed up, and I'm told that this characterization is not negative at all.

01 August, 2005 09:07  
Anonymous Anonymous said...

Hi Prometheus,

I'm not concerned with enemies or sides, but with accuracy and respect, and science and ethics, and consequences.

If you had compared homosexuality to cancer, I hope you would have had more than one solitary polite objection. Even if your analogy were somehow at some level rhetorically/abstractly defensible, it is regardless very likely to be misleading and harmful in the real world. The strategy of using cancer to teach the public about what autism really is has not been good for autistics.

I could make an analogy between you and Boyd Haley. You have both compared autism to a dreaded, fatal disease, and you have both justified this by saying "it's only an analogy", and by claiming that if someone is offended, the problem is her inadequate comprehension of the situation. But I recognize, as I'm sure you do, how entirely unfair, misleading, and reprehensible it would be for me to compare you to Dr Haley. People hearing my analogy would be at high risk of acquiring strong false notions about who you are, based on their knowledge of Dr Haley (a rather public person) and their ignorance of you.

Re diagnosis, autism has standardized quantified diagnostic instruments (ADOS, ADI-R). Many research groups also use extensive cognitive testing. I can't argue in a paragraph all the issues related to diagnosis. But diagnosis can be precise enough to (in the group I work in) sort autism out from the 750 possible named neurodevelopmental disorders (many of which look sort of like autism), as well as occasional brain lesions (etc). Failing to note an anomaly can have very serious consequences beyond confounding your experiment, which means you have to know what autism is not.

Re consistent results, now that researchers are cranking out better-designed studies, there are consistent findings re brain volume in autism (yes, we have big heads, and big brains). There are changes over time, but the effect continues from somewhere before 18 months onwards into adulthood. And older autistics (over 15) have greatly increased volume of grey and especially white matter in our fusiform gyri (Schultz, 2005). Connectivity is atypical (studies led by Just, Koshino, Castelli).

In something I wrote for a Senate committee, I provided a list of some findings from the science (in this case, in cognition). Here it is (it was recently read out loud with my permission by someone else at a conference in the UK; reading it out loud to the Senators was an interesting experience):

Empirically documented autistic strengths include: enhanced visual search abilities; enhanced visual discrimination; superior ability in disembedding figures; enhanced auditory pitch memory, pitch labeling and pitch disembedding; superior speed of processing; superior performance in detecting and responding to visual social and non-social cues; faster sentence comprehension; superior performance in detecting changes in pitch; enhanced memory of semantic and visual stimuli with less susceptibility to false memories; superior pitch discrimination and categorization; superior accuracy in graphic cued recall; superior phonological processing; superiority in maintaining shape constancy; faster grammatical computation; superior numerical estimation; enhanced perception of static first-order visual stimuli; superior recognition of faces with a one-feature prime; and superior individual feature processing.

Not all of those are replicated, but many of them have been. You can find the references and context here . This also raises the question of who has the pathology, in all the areas where autistics show enhanced performance.

Re "autistic" behaviours in non-autistics, and more about the validity of autism as an entity, see part 10 of this . If you want a valid analogy, read part 5 then part 6.

Last piece of suggested reading, a short informal article, from one of the best experimental psychologists in the US, which might address a few more of your concerns

01 August, 2005 17:35  
Blogger Kev said...

I understand where you're coming from Michelle. I'm not suggesting you're diseased or that you've gotten anything mixed up. Or maybe those things are simply implications about what I was saying I took from your last comment to me?

The point is that whilst we all talk on the web we interact in a imperfect medium for communication. Sometimes meanings are unclear and sometimes things we use to illustrate our meanings come out less clearly than we'd hoped also. This isn't about comparing autism to cancer on a 'disease' level, its about (as far as I could see it) using one concept of 'many from one' to illustrate another.

01 August, 2005 21:05  
Anonymous Anonymous said...

Hi Kev,

See the message just before yours, that I wrote to Prometheus.

You objected to my pointing out that comparing autism with cancer is inaccurate, misleading, and harmful (never mind tedious). You objected to my response to Prometheus characterizing autism (which is more central and essential to me then femaleness) as a disease or diseases from which people (myself included) are suffering, etc. I was responding to your objections.

You have no problem with what Prometheus wrote. I was responding to that also.

If I had more time, I would would list a few of the recent Canadian autism=cancer statements, including from trial and appeal judges, a Senator (quoting someone else, in the Senate), the Ontario Human Rights Commission, Autism Society Canada (both testifying in the Senate, and in a national newspaper), Autism Society British Columbia, FEAT BC, the New Democratic Party of Ontario, etc) and ask you which were okay and which were not.

01 August, 2005 23:17  
Blogger Kev said...

I didn't object to anything Michelle. What I did was say I disagreed with the implication you took from it and then went on to say that when we operate across on an imperfect method of communication that misunderstandings occur on all sides.

"...I would would list a few of the recent Canadian autism=cancer statements, including from trial and appeal judges, a Senator (quoting someone else, in the Senate), the Ontario Human Rights Commission, Autism Society Canada (both testifying in the Senate, and in a national newspaper), Autism Society British Columbia, FEAT BC, the New Democratic Party of Ontario, etc) and ask you which were okay and which were not."

All of which would be fine and dandy if Prometheus had said 'autism=cancer' but he didn't. I'm sorry you took that implication away from what he wrote but your interpretation is not one I share.

02 August, 2005 01:45  
Anonymous Anonymous said...

Hi Kev,

Autism=cancer is the same kind of shorthand as Kathleen Seidel's use of autism=poisoning, a shorthand that is not confined to statements exactly identical to "autism=poisoning".

Every time I've objected to an autism=cancer statement, I've been informed that I'm not bright enough to understand what really is being said.

So my point was that you could use the same argument you are using here (defending Prometheus) to defend all the other autism=cancer statements. That is, after all, what everyone else has done.

But this isn't about rhetoric, or semantics, or even about whether I'm too thick to know what's good for me. It's about consequences. The consequences of the widespread acceptance of the autism=cancer equation and its presence in our jurisprudence (under our highest law) have been spectacular, and they are ongoing.

02 August, 2005 03:02  
Blogger Kev said...

I don't really think I can say anything else Michelle. I'm sorry you feel that I'm saying you're not bright enough to understand whats really being said but I don't think there's any more I can say that would relieve you of that mistaken assumption.

02 August, 2005 04:02  
Blogger Prometheus said...

Although I hate to cut off commentary on a topic, this one has become more of a private conversation.


02 August, 2005 09:24  

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