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Monday, November 9th, 2009

The Puzzling Spectrum of Autism Causes

May 5, 2008 by Kristina Chew, PhD  
Filed under Health

What do TV, ultrasounds, insufficient vitamin D, air pollution, a mother having the flu while pregnant, mercury, have to do with each other?

All have been named as possible causes of autism. TK Kenyon looks at the puzzling spectrum of research into the cause of autism, some of which he labels as “just plain stupid”—the theory by economist Michael Waldman that tv causes autismautism causes tv—while others are “brilliant”—a 2006 study published in the Proceedings of the National Academy of Sciences (PNAS), about a genetic variant that disrupts the transcription of MET, a gene that is a tyrosine kinase receptor and that “participates in brain growth and maturation, immune function, and repair of the digestive system.” As Kenyon further notes about the latter:

Children with autism often have symptoms of disturbances in some or all of these systems. This research ties together these disparate symptoms and explains why children with neurological symptoms often have diarrhea or immunological problems.

There’s something about autism that attracts speculation about “what causes it” and “why the increase”? People are quick to shake their heads at the suggestion that better diagnosis and more understanding about autism are real factors in the recent increase in the prevalence rate of autism, which is now 1 in 150 among children in the US, and 1 in 94 in New Jersey where I live.

Is it that people want to know why a child like my son can look so “normal,” with no obvious health problems (indeed, my son is very healthy, strong, and muscular from lots of physical activity)? Or why some autistic individuals seem to have behaviors that are highly reminiscent of those only absorbed—”obsessed”—with that quintessential product of the techno-computer age, the video game? Is autism about the “odd”/”strange”/”bizarre”/”abnormal” behaviors that one sees (and that are currently used to diagnose it), or is autism something invisible to the naked eye—-something in the genes, or just some kind of neuro-difference?

No surprise that the search is on for a biomarker for autism (one such candidate is accelerated head growth). If we could just pinpoint what causes autism, then we could figure out a cure.

I’m not at all sure what such a “cure” would look like. If I wanted to, I could say—could sculpt my words to prove—that my son has “recovered” to the extent that he could: He can talk now (in short, short sentences and not always clearly). He is curious about people and about children his age in particular, though his burgeoning and rather rote social skills do not make for too much actual interaction. As noted, he’s extremely healthy, and he’s extremely attuned to the world around him; to what Jim and I say and are feeling. He’s got more than his share of obsessions, anxieties, what can be called “tics” or “stims,” from holding his shoulders and hands a certain exaggerated way to (sometimes) constantly humming. He’s come much farther than anyone would or could have predicted when he was being evaluated at the Child Development Clinic in the Minneapolis Children’s Hospital, almost nine years ago. His IEP, neurology reports, forms for the Department of Developmental Disabilities, doctors’ reports, all have one six-letter word somewhere:

Autism.

And sometimes the puzzle to me is why it seems so hard, or unpleasant perhaps, or just unfathomable, to accept a genetic explanation for autism. As each day passes, I see more and more of Jim and of myself in Charlie and these observations reassure me more than anything else. Neither Jim nor I have autism. Charlie does.

I think there is (to me) the beginning of an answer somewhere in there.

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Comments

29 Responses to “The Puzzling Spectrum of Autism Causes”
  1. Regan says:

    “just plain stupid”—the theory by economist Michael Waldman that autism causes tv—”
    ————————-
    I realize that’s just switched around, but it did catch my eye because if autism causes TV, I think that would be quite something. FWIW, I’m not sure the study was “stupid”, just leaning too hard towards a desired outcome with somewhat selective data.

    I’m not sure anyone was really burning up about the cause of autism until the numbers got up. I think any parent of a differenced child wonders “how did this happen”, although in autism the questions are at a fever pitch because of the practically unknown etiology, desire to prevent or change trajectories with treatment, and the high degree of loose speculation thrown about in the public view. Hand in glove. Nature abhors a vacuum, and the unknown abhors lack of explanation.

    If no one knew our family history, and just casually observed, big girl is her daddy’s girl, and Eleanor is me all over again with a few, and I mean few, but significant differences. (However those seen as having pathologies might not be who you would expect, at least on a superficial basis.)

  2. H6 says:

    “Children with autism often have symptoms of disturbances in some or all of these systems. This research ties together these disparate symptoms and explains why children with neurological symptoms often have diarrhea or immunological problems.”

    That is brilliant research. And the research about HHV-6 causing a wide array of problems in those very areas (and more) is also brilliant.

    Wouldn’t it be tragic if people bought into the genetic explanation and did nothing while HHV-6 was chronically causing all of the above problems?

    Treating an underlying viral problem might improve the quality of life.

    When MS patients are treated with anti-HHV-6 medications, their symptoms improve. That should encourage more people to look at the damage HHV-6 is doing in autism.

  3. Emily says:

    Strangely enough, I did have the flu in my pregnancy, a very bad case in the first trimester with an uncontrollably high fever (105+) that required baths and uberdoses of NSAIDs (Tylenol AND Ibuprofen) to bring down within reasonable range. However, that was with the one child I have who has not been diagnosed as being on the spectrum.

  4. @Regan,

    I did mean “tv causes autism” (just fixed it) but on the other hand, I did write a post called “autism causes TV” in an attempt to point out the limitations of the theory. As I understand it, too, Prof. Waldman has an autistic child and his own experience seeing how TV affected the child has something to do with his theory.

    @H6,

    I found that study about MET extremely interesting too—glad that Kenyon pulled it out.

  5. RAJ says:

    The ’cause’ of ‘autism is known. It is a disruption in early brain development. There is universal agreement between the ideologues of the ‘genetic’ theorists and ideologues of the envirnomental theorists. What is not known are the etiologies of autism.

  6. Regan says:

    The ’cause’ of ‘autism is known.
    ——————-
    Are the “ideologues” referred to, researchers or the lay public? Because based on the public comment, I think we missed the memo.

  7. M says:

    The appeal of anti-vaccine arguments…since vaccines chronologically overlap with certain developmental milestones…it makes for too tempting a scapegoat, which is unfortunate. They steal the spotlight from my own pointless (but equally legitimate) theory: autism is caused by Hastily Opprobrious Knee-caps. I’m sure of it.

    Anyway.

    To Cause-of-the-Week thinking, be obstreperously indifferent.

  8. Autism is caused by people who think autism is caused by people who think that shrinks do think and never mind in the blink of an eye.

    Well Kevin oh so honest and respectable bloody Leitch who censors my comments because I do not think he is this paragon of autism advocacy that he represents himself as, would not allow me to publish this.

    I hope you will allow me to post what he would not

    “Well if you can spare your dislike of me long enough to post this, the phenomenon is known as
    Duhem’s indetermination hypothesis http://tinyurl.com/4vn8ex that is what happens when there are mutually incompatible theories that explain the same phenomenon in the abscence of conclusive proof.

    Notwithstanding in deference to Kev he is not the worst out there, the Aspergian with his total denial of any adverse comment has to take that prize.
    It was for the most part elaborated by Willard Quine and is more often associated with him these days.

    You see there is more to science than people realise”

  9. Whoops in my earnest desire to post I wrapped too much in quotations, they should end at … these days close quotations.

  10. Ms. Clark says:

    Larry. Kevin is not overseeing his blog right now. He’s on holiday far away from the web. Maybe you need to apologize????

    Huh????

  11. Hi Kristina, you touched on some important issues that go beyond autism, since they also apply to most other psychiatric, neurological, or similar medical conditions. Here are some random thoughts.

    -Often I’ve seen the issue of etiological research and the reported increased rate of autism fused, suggesting that the validity of etiological research is dependent, or contingent, upon the veracity of the increases of true cases of autism. I’m not sure when or why these two issues became intertwined. Etiological research is needed (not only in autism) even when the rates of a disorder are stable or even declining. I understand that when the rates are increasing there is a sense of urgency to the etiological research, but the purpose or benefits of etiological research are mostly independent on the epidemiological status of the condition.

    - In support of etiological research: This type of research helps us understand the mechanisms of a condition, which improves the development of treatment interventions and preventive efforts. Misguided etiological research (such as likely the vaccine issue in autism) distracts from more effective etiological research, but it simply represents the way science progresses. Just as we no longer conduct studies on the refrigerator mother hypothesis, it is likely that researchers will stop research on some of the current suspects, and will move on onto some new factors. And hopefully eventually, a clearer picture of this complex issue will emerge.

    - You touched on a very interesting, often philosophical issue: how do we define a condition? Speaking in medical terms, is a disorder a constellation of symptoms? The cause of these symptoms? The dysfunction or mechanism caused by x (cause) and resulting in y (symptoms)? Or something else? Even for clinicians and researchers the answer to this question is elusive and strong arguments can be made for all. Currently in psychiatry, most disorders are defined by its symptoms and resulting impairment. So, what is major depressive disorder? A constellation of symptoms including a, b, c, and d, etc that occur during a specific time frame, etc, and cause impairment in the person’s educational, personal, occupational life. This is simply a rubric. One that facilitates communication, treatment, and research; but it is not necessarily the only, most effective, or most accurate.

    - Finally a thought about ‘cures’. The meaning of cure is directly tied to the rubric we use to define the condition. A perfect example is the eternal debate between psychoanalysts and cognitive-behavioral psychologists. If I’m depressed and after cognitive therapy I no longer cry, can go to work, have stable relationships, and enjoy life, etc, etc, am I cured? I would say yes, as would other cognitive behavioral psychologists — assuming that cured means no longer meeting diagnostic criteria — but most psychoanalysts would disagree. An alternative to focusing on symptoms (not in regards to treatment but to measures of ‘cure’) would be to focus on ‘impairment,’ which by definition brings us back to focusing on diagnostic criteria. We often forget that the hallmark of DSM-IV conditions is that they cause functional impairment (educational, social, personal, occupational, etc). This is most often forgotten when discussing HFA or AS, and the neurodiversity debate. If we are true to the theoretical foundation of current psychiatric thought, do you have HFA or AS if you do not experience impairment? I would say no — from a purely diagnostic perspective. However, other positions would disagree with this entire concept, especially when HFA or AS is viewed as a personality profile; one that is part of the identity of many people with or without the impairment.

    Sorry for the long post and possible circular logic – it’s been a long day. Nestor.

  12. Regan says:

    Nestor,
    Nice discussion, except the for the functional impairment, which I could see as tricky. That one depends on the observer. Is it to the absolute benefit or detriment of the end-client if s/he flaps hands or does other “annoying” stereotypies but is otherwise “functioning”. Why do we become concerned when someone enjoys non-age appropriate activities from which s/he derives personal satisfaction? I can see impairiment from the view of the outside observer if considering the societal response to such, but I think the definition of impairment is the tricky one, and in the ultimate view comes down to the person when we are discussing normative and personal goalposts.
    Something to recall, I believe, is who is the end-client for treatment? Minor child or adult? Legally or actually dependent or competent under what terms? Not everyone self-directs, decides, or gives permission to treatment, and that is another ethical issue.

  13. Hi Regan. I completely agree that the issue of ‘impairment’ is a tricky one. Wakefield talks about impairment as it relates to your greater cultural context, which brings yet another set of issues. There is no doubt that the concept of impairment can not be separated from societal expectations — and some of these expectations are more arbitrary than others. Nestor.

  14. I don’t need to apologise if you look it up he has stated it on Amanda’s blog that I am banned.

  15. As too many have discovered, the comments that end up in moderation here are (1) by people who’ve never commented before or (2) for posts that have a lot of URLs in them.

    (One comment I’ve kept “in moderation” is the one that suggested I drink mercury or something like that—I am, as it is, strictly into coffee.)

  16. Nestor wrote: “We often forget that the hallmark of DSM-IV conditions is that they cause functional impairment”

    Looks like the DSM-IV-TR authors forgot too.

    The DSM-IV-TR specifically removes the criterion requiring “clinically significant distress or impairment” from a set of DSM-IV criteria, for good reasons, including that this criterion impeded research (see p. 831).

  17. Thank you Michelle for pointing this out. You are correct. Originally, the functional impairment was added to most conditions to prevent over-diagnosis and highlight the difference between normal variations in functioning/personality from psychiatric disorders (e.g., when does being strange stop and schizotypal personality disorder begins?). And this criteria was correctly removed to some childhood disorder based on the concept that limited social/occupational/educational demands during this time may make the functional limitations difficult to identify, even when the disorder is there. Thus early diagnosis, even in the absence of impairment, would facilitate treatment that could prevent later functional impairment. Thus, yes Dsm-IV TR does not require functional impairment in ADS (aside for the specific “qualitative impairment” clauses) but I see an argument on how clinical judgment could/should play a role in determining the appropriateness of diagnosis for cases when functional impairment is non-existent (specially in adults). DSM-V is way overdue. I wonder what changes they will make. Nestor.

  18. For clarity, the bit I quoted as an example, from the DSM-IV-TR (revised from the DSM-IV), refers to tic disorders, including Tourette’s, where “impairment” is no longer mentioned in the diagnostic citeria.

  19. Ms. Clark says:

    You are right, Larry. I was wrong. You were banned.

  20. Michelle is right (how hard it is for me to say that)

    I have read some of the white papers on DSMV they are available to download.

    DSMV has many difficult choices to make as the nosologies fail to fit what research is coming up with.

    I guess the clinically significant criteria will be ditched altogether to keep in line with ICD and diagnosis in physical medicine, where ones ability to funtion with a particular condition has no bearing on whether the indicators are there or not, e.g well controlled diabetes, where one has an underlying disorder, but with medication and diet it does not impinge upon ones abilities.

    If they go for a really radical solution, many of the current “lables” will go and be replaced with multi axial diagnoses, it rather depends upon how much the conservative psychiatric community can take of change.

  21. Lisa Rudy says:

    Just curious, because this is such a great group of commenters on this board –

    For a long time, I’ve had the sense that many people associated with autism seem to be stuck in a “magical thinking” mode. That is – a mode in which cause and effect can be “proved,” not by testing in the scientific sense, but through simple observation and an ASSUMED cause and effect.

    In other words – “I wanted to get rid of the cold weather. So in January I placed three yew branches in front of door. By March, it was warm. Hence, the yew branches caused the world to become warmer.” Or… “my 3 year old child couldn’t talk. So I tried treatment ABC. Six months later he could talk. Thus, ABC made it possible for him to talk.”

    This is, of course, a very old way of thinking… and it’s a common “naive misconception” in the science education world (I do a great deal of writing for museums and science education organizations).

    The up side is – it really does make “common sense.” Seeing, after all, SHOULD be believing. The down side, of course, is that it is absolutely incorrect…

    Your thoughts?

    Lisa (About.com Guide to Autism)

  22. Joseph says:

    We are adapted to see correlation as causation. That means it probably serves a useful purpose in average. Of course, that also means that we’re not very good at recognizing coincidence when it happens. For a lot of people anecdotes are more believable than, say, an epidemiological study.

    When it comes to autism, though, a big part of it has to do with errors in its social construction. For example, it is generally believed, for unclear reasons, that autism is developmental stasis.

  23. stopautismquackery says:

    @Nestor

    I don’t think you understand the foundation of what you term “the neurodiversity debate”; please see this, for clarification, when you have a moment:

    http://thiswayoflife.org/blog/?p=312

    Thank-you.

  24. Ladies and gentlemen of the pubic opinion jury, let me present evidence that proved mercury-vaccines causes autism?”:

    1) Their is an obvious conflict of interest with autism studies funded by drug companies which puts said research on the “suspect list” and thus should be given the same weight as the tobacco company studies that smoking doesn’t cause cancer.
    2) The sharp increase in autism started with the onset of more and more vaccinations.
    3) Both autism and thimerosal poisoning symptoms are the same:
    http://www.nationalautismassociation.org/thimerosal.php

    Given these indisputable facts and the obvious conflict of interest that exist between the drug companies and the medical establishment, one must err on the side of caution and seek alternative health methods and prevention vs drugs and vaccines. Don’t you all agree?

  25. @Lisa Rudy,

    I definitely think there’s more than a little, and even a lot, of magical thinking—of associative thinking assuming a connection between things because of their happening in close succession—going on in discussions about autism causation.

    It’s not terribly surprising, though, that magical thinking can continue to co-exist in a scientific age—-this was the case among the ancient Greeks, among whom myth (with all of its irrationalities) and the logical and reason of science co-existed together.

    And it’s the “common sense” explanations (about vaccines and autism, for instance) that seem so obvious and irrefutable, whereas it seems too often that scientific explanations are complicated and limited.

  26. daedalus2u says:

    Mike, your “facts” are nonsense, dangerous lies put out by people such as yourself trying to scam people.

    Mercury poisoning is nothing like autism, people with real mercury poisoning have elevated levels of mercury, people with autism do not.

    75 years ago mercury was used in teething powder, a grain of calomel per dose. That is 65 mg HgCl, or about 55,000 micrograms of mercury. About 4,000 times the dose of mercury in a single vaccination. Many millions of doses of teething powder containing 55,000 micrograms of mercury were sold, one company sold 30 million doses in one year. Over 1,000 children died of what was called “pink disease” which is now known as mercury poisoning.

    Many millions of children were exposed to many thousands of times more mercury from teething powders than any child has received from vaccines. Over a thousand children died from mercury poisoning with what are now known as classic signs of mercury poisoning. How many children developed any symptoms of mercury poisoning from vaccines? None at all. Not surprising because the amount of mercury in a vaccination (12 micrograms) about the same as the mercury in a tuna sandwich (0.35 ppm times 40 grams ~ 14 micrograms). Methyl mercury (the kind in tuna) is better absorbed from the gut than thimerosal is absorbed by injection. Oral methyl mercury gives higher blood and brain levels of mercury than does injected thimerosal.

    In the Faroe Islands 996 children were tested at birth for mercury in cord blood. 747 had cord blood mercury levels above 65 nM/L. 249 had cord blood mercury levels above 200 nM/L. In the two years including the 996 child cohort, 1404 children were born. In that group there were 2 cases of autism and 3 cases of Asperger’s.

    The only people pushing the “mercury causes autism” idea are those who profit from it, including you trying to sell useless crap to treat non-existent mercury poisoning.

  27. Tony Bateson says:

    So there are 28 possible causes of autism? What about the single reason why the cause of autism is not yet known? Try this. It is because vaccination in the USA and many western countries is mandatory and these countries do not have enough unvaccinated kids to form a big enough pond to fish in. Here In the UK we have up to three million people born since 1966 who have received no childhood vaccinations. Guess what, none of them seem to be autistic.

    What other explanation could there be when millions of readers of national newspapers and similar media have read my articles claiming there are no unvaccinated autistic people and have felt disinclined to put me right? Actually one Harley Street doctor did but oddly he lost the evidence.

    Bring out your unvaccinated autistic kids, let’s see one then I might believe there is some inconceivable other reason that mystically affects 99.999% of vaccinated kids but only 00.001% of unvaccinated kids.

    Tony Bateson

  28. Possible that there’s no single explanation for autism; genetic studies only add to the complexity as anywhere from 30-100 genes may be involved.

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