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    A Dangerous Knowledge Gap: The Autism Wars
    By Kim Wombles | December 14th 2010 01:52 PM | 12 comments | Print | E-mail | Track Comments
    About Kim

    Instructor of English and psychology and mother to three on the autism spectrum.

    Writer of the site countering.us (where most of these

    ...

    View Kim's Profile
    Lisa Rudy posted "Misinterpretation of Autism News Can Cause Serious Confusion" over at About.com's autism site, and the comments have gotten interesting and clearly demonstrate the growing gap between what consumers know and believe and what researchers have determined. This is something I've written about before, more at the beginning of the blog back in 09 than recently. This growing gap, coupled with the confidence that consumers have that their assessment of what autism is, what is known about it, and what treatments should be used (think the latest fecal transplants, brought to attention by LBRB), is a dangerous gap.

    I'm in no way suggesting I am an expert on autism; I'm aware of just how much research is out there and that I can never read it all, but I do work hard to make sure that what I write about autism is backed up by solid research and to note the limitations of the research (and my knowledge base). Keeping abreast of autism research (just the reputable stuff) takes a large investment of time and energy, and parsing through the woo, pseudoscience and other filler stuff out there would more than exhaust any one person's time.

    When there is a consensus in the literature, as there are on known causes of syndromic autism, as was discussed on the comment thread at Rudy's post, there seems little reason to debate about it; these are known, non-debated causes. And yet, that's exactly what happened, with some individuals choosing to go on what they could readily recall or already believed rather than looking to the actual research literature and experts in the field.

    This demonstration of the gap in the knowledge and the certainty with which many in the autism community move is potentially dangerous. Worse yet, I'm not sure there's any fix to it; where there is certainty, there is no way in, no way to grow, to learn, to correct past mistakes.

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    I offered known causes of syndromic autism:


    Fragile X
    Rett Syndrome
    Prader–Willi and Angelman syndromes
    Inv dup(15) or idic(15) syndrome
    Trisomy 21
    Joubert syndrome
    Neurofibromatosis type 1
    Macrocephaly and overgrowth syndromes
    Timothy syndrome
    Tuberous sclerosis complex with autism
    Turner syndrome
    Williams syndrome
    Smith–Magenis syndrome
    Klinefelter syndrome
    XYY syndrome
    22q13.3 deletion syndrome
    Smith–Lemli–Opitz syndrome
    Cohen syndrome
    Phenylketonuria
    Sanfilippo syndrome
    Adenylosuccinate lyase deficiency
    Duchenne muscular dystrophy
    Mitochondrial cytopathies

    Reference:


    Caglayan, A. (2010). "Genetic causes of syndromic and non-syndromic autism." Developmental Medicine&Child Neurology, 52(2), 130-138. doi:10.1111/j.1469-8749.2009.03523.x.

    ...

    Note the title of the article cited. Causes. Not related conditions. Not genetic vulnerabilities. KNOWN CAUSES. This isn't a debate in mainstream medicine. And yet, folks want to argue about what are considered to be facts by the experts in the field. By the qualified experts in the field. If that isn't the arrogance of ignorance speaking, then what is?

    I ended up closing my comments (as there can be no illuminative debate when one side ignores the facts) with the following:

    It's an interesting choice to decide that your interpretation of causes trumps the  neurologists and other experts in the field who've spent decades looking at this. In addition to the one article I cited, there are many more that use those words: known causes. There's Mary Coleman's The Neurology of Autism, an excellent text that lists even more genetic disorders that cause autism (remember that autism is diagnosed based on a list of descriptors). If a genetic syndrome can be found, it is syndromic autism.

    I'm afraid the Autism Society of America even gets that, although there's not much information on it and it then sends readers over to a related conditions page: http://www.autism-society.org/site/PageServer?pagename=about_whatcauses.

    Sites like the Autism Society of America and the National Institute of Neurological Disorder and Stroke (http://www.ninds.nih.gov/disorders/autism/detail_autism.htm) give a quick and woefully incomplete covering of autism. It's short-sighted to base one's knowledge of autism on either site; neither provides enough depth to make one particularly knowledgeable about pervasive developmental disorders.

    There are some in the autism community who think there is little known about autism, but that is not an accurate reflection. Perhaps that is because much of the research is not available to the public for free, and often the textbooks are not cheap or widely known. For example, the big granddaddy of them all, theHandbook of Autism and Pervasive Developmental Disorders, a two volume set and a heck of a read at nearly 1500 pages, distills all that is known into the "bible" of autism experts, although it's now five years old and in need of updating. It's also 200 bucks and ranked 715,707 at Amazon; it's flat out not going to be seen by parents searching for autism related books at Amazon. What information does get consumed by parents is often inaccurate, unsubstantiated, and far off the mark of what decades of research is showing.

    In no way does this wall between the research and the consumers reflect poorly on the consumer who is going off of incomplete data, but it is a real problem, and it is a growing problem, especially when the consumer becomes fixed in his or her position.

    ...


    I don't know how to bridge this gap, but it's apparent when folks are closed into their position and certain that they know what the answers are, there's no point in continuing to discuss it with them. I also don't think it's realistic that all parents are going to read a 1500 page text written for professionals or even Coleman's slim text, also written for professionals in the field. 


    There's also obviously no way to keep crap from being written and sold, claiming to have all the answers on autism. Anyone can publish a book and get it listed on Amazon, and we've seen, even with major publishing houses, that accurate and factual information isn't necessary to get a book published. 


    There are no quick or easy answers, and it is both frustrating and frightening to think of the thousands of parents on groups like the autism-mercury group and others like it trading their fecal transplant recipes around, the best way to chelate their child, how to get the suppositories to stay inside the rectum until dissolved, whether to give an enema first, etc.  It is frightening to think of these children whose parents use them as guinea pigs, who treat their bodies with no respect (I know, I know, these parents who do this are on a mission to cure their children and find their own acts nothing short of heroic and reflective of martyrdom).


    All I can personally do is try to take the literature that so many parents have never heard of, don't know exists, and try  to make it accessible, and then hope that some of those folks who are locked into thinking because they've read one website or two and McCarthy's books, they know it all. And while I do that, I must keep in mind that I do not know everything. I can and will never know it all, and I have to hope that this awareness of my own inadequacies will at least, if not render me humble, help me remain compassionate.









































    Comments

    Hi Kim

    I think it's important to clarify that all of the above syndromes are risk factors for autism. Having, say, Fragile X makes it much more likely that you'll meet diagnostic criteria for autism than some random person from the general population. But there are plenty of non-autistic people with Fragile X.

    I'm not an expert in Fragile X syndrome, but I don't think we're in a position yet to say why some people with Fragile X are autistic and others are not. And I'm pretty sure the same goes for the other syndromes.

    Jon

    kwombles
    Jon,
    While not everyone with these conditions will meet the criteria for autism, the literature goes beyond recognizing them as merely risk factors and flat out calls them causes of syndromic autism. This is not me overstating the existing literature; it is what the actual literature says and it is not restricted to the study I cited. Whether choosing to note that these are risk factors is a matter of semantics or not, I won't weigh in on, nor would I presume that any researcher had gone so far as to explain why these disorders sometimes manifest with the additional core features of a pervasive developmental disorder. It's important to remember that autism is not one condition, but a term that encompasses what is undoubtedly many differerent, distinct autisms.

    **updated 12/15:

    I think I understand better after some reflection that you're clarifying for others that there isn't a 1 to 1 correspondence, in case some read that into the post. Thanks.
    “Nothing in the world is more dangerous than a sincere ignorance and conscientious stupidity.” --MLK, Jr.
    Bonny Bonobo alias Brat
    Kim, do you know if it is it true, that most physicians don't test for mitochondrial dysfuntion and oxidative stress in autistic children as Dr Hyman claims in his article, that you referenced above and which I have quoted below? Do you think that the energy loss and oxidative stress that he mentions are factors that are present in autism? See http://drhyman.com/breakthrough-discovery-on-the-causes-of-autism-2730/

    "While we don’t have all the answers, and more research is needed to identify and validate the causes and treatment of autism, there are new signs of hope. A study just published in the Journal of the American Medical Association by researchers from the University of California, Davis called “Mitochondrial Dysfunction in Autism” discovered a profound and serious biological underpinning of autism—an acquired loss of the ability to produce energy in the cells, damage to mitochondria (the energy factories in your cells), and an increase in oxidative stress (the same chemical reaction that causes cars to rust, apples to turn brown, fat to become rancid, and skin to wrinkle). These disturbances in energy metabolism were not due to genetic mutations, which is often seen in mitochondrial problems, but a condition the children studied acquired in utero or after birth."

    "Bottom line, if brain cells cannot produce enough energy, and there is too much oxidative stress, then neurons don’t fire, connections aren’t made and the lights don’t go on for these children. In fact, this problem of energy loss is found in most chronic disease and aging—from diabetes to heart disease to dementia. Brain function and neurodevelopment in particular are highly dependent on energy."

    "This is exactly the problem I documented and found in Jackson when I first saw him. He had a profound loss of energy in his cells (particularly his brain cells), and indicators of severe oxidative stress. This is the same problem many other researchers have found in similar studies. Despite the evidence, most physicians don’t test for mitochondrial dysfunction, oxidative stress or other myriad factors commonly found in autistic children."
    My article about researchers identifying a potential blue green algae cause & L-Serine treatment for Lou Gehrig's ALS, MND, Parkinsons & Alzheimers is at http://www.science20.com/forums/medicine
    kwombles
    Helen,
    I covered Hyman's misleading post yesterday. Orac covers it scathingly today. Emily Willingham looks at the mito study  and I looked at it both on Science 2.0 and my blog. Thanks. 
    “Nothing in the world is more dangerous than a sincere ignorance and conscientious stupidity.” --MLK, Jr.
    Bonny Bonobo alias Brat
    Yes, I've read quite a lot of that and there's a lot of critical analysis, but what I couldn't understand was these 2 quite simple questions. If it is it true, that most physicians don't test for
    mitochondrial dysfuntion and oxidative stress in autistic children as Dr Hyman claims in his article? And do you think that the energy loss and oxidative stress that he mentions are factors that are present in autism? I could read it all again, or you could just say yes or no. I know which would be easier for me, but I'll read it all again if I'm being too simplistic?
    My article about researchers identifying a potential blue green algae cause & L-Serine treatment for Lou Gehrig's ALS, MND, Parkinsons & Alzheimers is at http://www.science20.com/forums/medicine
    kwombles
    As far as I can tell, since most mitochondrial testing involves muscle biopsies, and prior research has only suggested about 7% of autism cases having underlying mito disorders, this does not appear to be routine testing. The new mito study used a blood sample to evaluate for mitochondrial issues; if this is an effective way to test for mito disorders, then it might become more standard. 
    DAN! practitioners tend to focus on the idea of immune dysfunction and oxidative stresses, offer testing and treatments, but these are not, as far as I can ascertain, based on accepted science; there is little peer-reviewed literature regarding autism and oxidative stress. There is a book out, from last year, that explores this: Autism: Oxidative Stress, Inflammation, and Immune Abnormalities, but I have not read it and cannot evaluate the validity of the text. 

    I'm sorry I cannot be of more assistance, but all research relating to autism and oxidative stress appears to be preliminary or based on animal models or potentially suspect.
    “Nothing in the world is more dangerous than a sincere ignorance and conscientious stupidity.” --MLK, Jr.
    Bonny Bonobo alias Brat
    DAN! practitioners tend to focus on the idea of immune dysfunction and oxidative stresses, offer testing and treatments, but these are not, as far as I can ascertain, based on accepted science; there is little peer-reviewed literature regarding autism and oxidative stress.
    Kim, thank you for your reply, I'm not sure what a 'Dan!' practitioner is however unlike you, I have found quite a lot of scientific peer-reviewed research that indicates that mercury (Hg) in its many forms increases oxidative stress, which may be a factor in autism, for example see 'A Prospective Study of Oxidative Stress Biomarkers in Autistic Disorders' by David A Geier et al, Institute of Chronic Illnesses, Inc., Silver Spring, Maryland, USA at http://ojs.lib.swin.edu.au/index.php/ejap/article/view/141/172 and the references to related studies at the end of this paper.

    "The aim of this study was to evaluate oxidative stress (OS) biomarkers in a prospective, blinded cohort study of participants diagnosed with autism spectrum disorders (ASDs). OS biomarkers, including: blood glutathione (GSH), urine lipid peroxide, blood superoxidase dismutase (SOD), and blood GSH peroxidase (GPx) among participants diagnosed with ASDs (n=28) were evaluated in comparison to laboratory provided reference ranges. Testing was conducted using Genova. Diagnostics (CLIA-approved). Participants diagnosed with ASDs had significantly (p<.005) decreased blood GSH and GPx relative to laboratory reference ranges.”

    “By contrast, participants diagnosed with ASDs had significantly (p<.000) increased urine lipid peroxide levels relative to laboratory reference ranges. A bimodal distribution of significant differences from the laboratory reference for blood SOD levels were observed (high=10.7%, low=14.3%). Finally, a significant (p=.05) inverse correlation was observed between blood GSH levels and ASD severity using Childhood Autism Rating Scale scores. The present observations are compatible with increased OS and a decreased detoxification capacity, particularly of mercury, in patients diagnosed with ASDs. Patients diagnosed with ASDs should be routinely tested to evaluate OS biomarkers and potential treatment protocols should be evaluated to potentially correct the OS abnormalities observed.”

    “Autism spectrum disorders (ASDs) are prevalent neurodevelopmental disorders that affect an estimated 1 in 150 children in the US (Austin, 2008). ASDs are characterized by severe impairments in socialization, communication and behavior. Children diagnosed with an ASD may display a range of problem behaviors suchas hyperactivity, poor attention, impulsivity, aggression, self-injury and tantrums. In addition, these children often display unusual responds to sensory stimuli such as hypersensitivities to light or certain sounds, colours, smells or touch and have a high threshold for pain (Austin, 2008). Finally, common co-morbidity conditions often associated with ASDs include gastrointestinal disease and dysbiosis (White, 2003), autoimmune disease (Sweeten, Bowyer, Posey,Halberstadt,&McDougle, 2003), and mental retardation (Bolte&Poustak, 2002).”

    “In attempting to understand the underlying pathogenesis of ASDs a considerable body of research has been conducted to evaluate potential candidate causal genes. Genetic studies, to date, have not uncovered genes of strong effect. It was postulated that increasing rates of ASDs and less than 100% monozygotic concordance of ASDs support a more inclusive reframing of ASDs as a multi-system disorder with genetic influence and environmental contributors (Herbert et al., 2006)."

    "Investigators suggested that ASDs may result from an interaction between genetic, environmental, and immunological factors, with oxidative stress as a mechanism linking these risk factors (James et al., 2006). Given the well-established fact that mercury (Hg) is known to significantly increase oxidative stress and that fetuses and infants are routinely exposed to Hg from environmental sources (i.e. fish, dental amalgams, vaccines, etc.), investigators have described that many ASDs may result from a combination of genetic/biochemical susceptibility, specifically a reduced ability to excrete Hg, and exposure to Hg at critical developmental periods (Geier, King, Sykes, & Geier, 2008).”

    “Further, it was reported that Hg can cause immune, sensory, neurological, motor, and behavioural dysfunctions similar to traits defining/associated with ASDs, and that these similarities extend to neuroanatomy, neurotransmitters, and biochemistry. Also, it was reported when reviewing the molecular mechanisms of Hg intoxication that it can induce death, disorganization and/or damage to selected neurons in the brain similar to that seen in recent ASD brain pathology studies, and this alteration may likely produce the symptoms by which ASDs are diagnosed (Geier et al., 2008)."

    Finally, forgetting about mercury in old vaccines, there is a much more pervasive risk of mercury poisoning and oxidative stress to people in nearly every modern building today, at home, work, school and shopping centres, see “1 broken bulb pushes contamination to 300 times EPA limits”at http://www.wnd.com/index.php?fa=PAGE.view&pageId=72133

    "Compact fluorescent light bulbs have long been known to contain poisonous liquid mercury, but a study (see http://maine.gov/dep/rwm/homeowner/cflreport.htm) released earlier this year shows the level of mercury vapor released from broken bulbs skyrockets past accepted safety levels."

    "The results were stunning: Breaking a single compact fluorescent bulb (CFL) on the floor can spike mercury vapor levels in a room – particularly at a child's height – to over 300 times the EPA's standard accepted safety level. Furthermore, for days after a CFL has been broken, vacuuming or simply crawling across a carpeted floor where the bulb was broken can cause mercury vapor levels to shoot back upwards of 100 times the accepted level of safety.”

    “Following the study, the Maine DEP made eight new recommendations for usage and cleanup of CFLs, including the recommendation to not even use the bulbs in carpeted rooms where children, infants or pregnant women live. The likelihood of breakage, near impossibility of cleanup and risk of prolonged exposure, the study concluded, are just too great."

    “The National Institute of Environmental Health Sciences website acknowledges that Brown University published a similar study last month confirming the Maine results: Breaking a fluorescent bulb sends mercury vapor levels to unsafe levels for the elderly, pregnant and young – and those levels remain elevated for days.”

    “The NIEHS website states, "Today’s CFLs underscore mercury's volatile vapor form, which is still a significant health concern – ventilation reduces but does not eliminate this toxicant. Mercury vapor inhalation can cause significant neural damage in developing fetuses and children."

    See also my blog about the risks of mercury poisoning from broken compact flourescent light bulbs (CFLs) at http://www.science20.com/make_love_not_war/blog/one_broken_%E2%80%98green%E2%80%99_cfl_bulb_contains_least_05_mg_mercury
    My article about researchers identifying a potential blue green algae cause & L-Serine treatment for Lou Gehrig's ALS, MND, Parkinsons & Alzheimers is at http://www.science20.com/forums/medicine
    kwombles
    Helen,
    My short response is that you didn't ask me about mercury and oxidative stress; you asked about autism and oxidative stress. 

    As to studies by the Geiers, I'll be completely honest: their work is right there with Boyd Haley's, Richard Deth's, Mark Blaxill's, and Andrew Wakefield's. If I can't find other researchers independently substantiating their work, I err on the side of extreme caution. 
    “Nothing in the world is more dangerous than a sincere ignorance and conscientious stupidity.” --MLK, Jr.
    Aitch
    Kim,
    I would re-iterate Jon Brock, as I have a friend who is a severely Obese, 25+ stone Klinefelter syndrome sufferer, with type 2 diabetes, who shows no sign of autism, despite several false diagnoses earlier in his life, and the high risk indicators
    He is currently wrestling with the mental impact of the possibility of having a gastric band fitted, since he has been told this will 'cure him', of both his diabetes, and the worst of the effects of Klinefelter syndrome, though several Surgeons have said he can only have the full gastric by-pass surgery, which I know scares the heck out of him, his GP is backing him having a gastric band
    So, it seems even amongst those affected by outlying causal symptoms, misdiagnosis, and disputes about procedure still are common, as are Healthcare costs a factor, especially here in UK, where a decision as to treatment seems affected by where you live, more than patient need or urgency

    I hear the despair and frustration in your post, but encourage you to stay strong, as you are valued by many readers...and I have recommended you/your posts myself

    Hope that helps a bit, keep up the good work!

    Aitch
    kwombles
    Aitch,
    :-) Thanks for the support.

     Some days interacting with those who are closed off and absolute in their convictions wears on me. It feels like a war of attrition at times, and it shouldn't be. People should want the best possible information so that they can make the best possible decisions, but time after time, in the angry places (and the frankly batshit crazy places), we are confronted with people who make conspiracy theorists look easy going. When you read people who believe the following: "The wingnuts have it right. The entire vaccine program is an evil capitilistic eugenics movement, and murderous infantacidal minion of money grubbing maniacs," it's hard to not get frustrated and a wee bit despairing.

    I suppose it's possible that folks could be misreading the known causes of syndromic autism and extrapolating a 1 to 1 correspondence: if you have the known cause you must have syndromic autism. This is not what research is showing, nor what I am suggesting. Not all of these conditions manifest with core autistic features, but the research bears out that these conditions are causes of syndromic autism. In other words, where we can identify one of these underlying syndromes in someone with a diagnosis of autism or autistic features, we have a probable/likely cause of autism. 

    Let's borrow the smoking metaphor for a moment. We know that smoking causes lung cancer, but not all smokers will get lung cancer nor will all those with lung cancer have smoked or been subjected to second-hand smoke.

    Do all children with a diagnosis of an ASD undergo the testing to rule out these conditions? No, but those with clear stigmata to suggest one of these syndromes, if being evaluated by a competent physician, should be. Fragile X testing is pretty much standard testing if being evaluated by a medical doctor. 

    We have a long way to go in disseminating accurate information to the public so that they can make informed decisions. And when they resist what is known, what isn't debated in the field, what next?

    “Nothing in the world is more dangerous than a sincere ignorance and conscientious stupidity.” --MLK, Jr.
    Aitch
    As much as I've had differences of opinion with Sascha, I think he also hits the nail on the head here

    http://www.science20.com/alpha_meme/killing_babies_bill_maher_science_en...

    ....by highlighting that not only is there a perceptual knowledge gap, there may be underlying corporate greed to maintain drug sales, and ignoring natural compounds, and in helping to keep research 'focused' in the wrong place, when it comes to overcoming the entropy in the medical field relating to Autism, to the dis-benefit of the many you, and I feel compassion for, amongst many other, possibly related conditions

    I personally would like to see far more natural therapy analysis, of things like stress and diet for Mothers in pregnancy...where there may be hidden clues waiting to be tapped

    Aitch
    There is a great deal of confusion about the genetic syndromes, heritablity and autism. Most of the genetic 'causes' of autism are not heritable at all. Most of the syndromes you listed involve, in most cases, de novo mutations where the mutation is not present in either parent. The mutation occurs because of a random event in the formation of reproductive cells (egg or sperm) or early in fetal development thus whilede noco mutations are genetic they not heritable at all. Downs Syndrome and Retts Syndrome are not inherited in 99% of the cases.

    http://ghr.nlm.nih.gov/condition/rett-syndrome

    http://ghr.nlm.nih.gov/condition/down-syndrome

    I'll give you just one of dozens of genetic syndromes with a high prevelance of autism that are not inherited, the recently discovered 16P11.2 deletion syndrome.

    http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome

    The genetic syndromes are mental retrdation syndromes with a subgroup who might meet diagnostic criteria for 'autism', but most cases also involve mental retardation without co-occuring autism.

    The research community also is guilty of the assumption that genetic equates to inherited when that is not the case of all.

    One has to ask, how do these new mutations occur. Mutgenesis would implicate environmental factors but the autism researchers aren't intereted at all in any environmental component at all.