12/14/2010

A Dangerous Knowledge Gap: The Autism Wars

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.

...
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, the Handbook 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.

23 comments:

Science Mom said...

From Sandy:
Every day new research studies are being released and many of them anyone can read, of which no past book is going to include. No one should have to pay $200 for information, either.

This is part of the problem. They have limited access to information, ergo, only consider that which is available to them. As an infectious disease researcher, I have lots of very expensive textbooks sitting on my shelves and a university library at my disposal. So yes, you should be expected to pony up some cash for quality reference materials. Then there is the question of whether they have the background to parse the materials which inevitably leads to 'you elitist' accusations. It's really hopeless sometimes.

lifewithasperger said...

I think it's the desperation. I've been there. When Coleman was self-injurious, and suicidal, and raging, I felt DESPERATE for something...anything...well I guess not anything, that fecal thing is NASTY...but I saw a thing on 60 minutes about chelation, and looked into it. Until I read about a 5 year old who died. Then I was done considering it. But I was still desperate.

I think it's like you've said, SO many times, people can't move their emotions out of the way. I don't know if I could, if I was NT. But ...oh I don't know..this is turning into quite a tome...

Great post, as usual...

kathleen said...

It is limited access to information..As sciencemom said-it is also that the information is oft times written in a way-well, if you don't have a grounding in science it is confusing.
People look for and read the things they can readily understand. especially when first diagnosed.. Unfortunately, the most easily accessible materials are things like Jenny McCarthy's books..and if a celebrity says it-it must be so...*sigh*

KWombles said...

Science Mom,

Yeah, she (and others) there ultimately prove my point. Sandy insists that the ASA's short blurb is definitive and ignores citations of reputable scientific research documenting the known causes of syndromic autism. The ASA and the NINDS information pages are limited in information and not meant to replace the research.

It does, indeed, feel hopeless, and if that renders me judgmental in Sandy's opinion, I find I can live with that. It beats living with ignorance masking as expertise.

Laura,

I understand that feeling of desperation, that need to do something, anything, to make the situation better. I think this arrogance and stolidity of position comes after they've acted on that desperation; they become locked into their positions in need to self justify.

I love tomes, you know that. :)

Kathleen, and easy answers, let's not forget those books provide sureness and easy answers. The big knockers just help sell it.

autismandoughtisms said...

Great post. I've been thinking the same thoughts a lot lately - that it all feels a bit hopeless trying to not only inform the masses (or even just the affected parents), but also trying to counter the misinformation. But giving up isn't an option, and it's such an important battle. Each individual who gets exposed to the truth, and stops subjecting their already suffering child to needless further suffering and humiliation, is worth it.

I do think that the biggest battle right now is making people aware of the multiple causes of autism, and how that can affect the symptoms, severity and prognosis for the affected individual. I recently did a post along the same lines. I try to also keep up with and sift through all the information out there, and your posts are helpful to that end. So thank you.

Heather Kinn said...

I blame both a lack of good information, and the fact that hard science curriculum has been watered-down because people are dreadfully afraid of offending the faithful. If we don't teach hard science and critical thinking skills, (and yes, even..*gasp!* evolution!) we suffer the consequences. When people don't understand that "intelligent design" isn't science because it begins with a foregone conclusion and cherry picks evidence to support it, and then you have Wakefield's study, which began with a conclusion and cherry-picked evidence to support it, can we really be all that surprised?

MJ said...

Just a question, did you read the study or simply go from the title?

Since you are claiming everything on your list constitutes a "cause" of autism, I am guessing you didn't really read it. If you did, you might have noticed little things like the description under "Joubert syndrome" -


Joubert syndrome (MIM: 213300), with a prevalence of 1 in 100 000, is the most common inherited cerebellar malformation syndrome and part of the autosomal recessive cerebellar ataxia group of disorders.34 A few children with Joubert syndrome have been diagnosed with autism, although a more recent study proposed that Joubert syndrome and autism are genetically distinct disorders with no evidence of a shared genetic liability.35


If few children with Joubert syndrome have autism and they are thought to be genetically distinct disorders, why exactly should it be considered a genetic "cause" of autism?

KWombles said...

MJ,

/snark I've found that it's always so much more effective to just go out and find random articles, glance at them and then pretend they say whatever I want them to, as many on the interwebz do. :-)

I read the article I cited in its entirety and several others relating to known genetic causes of autism. I didn't just happen to do so on the day I posted the reference, either. Incidentally, I've also read all of Coleman's text several times, and I've read the entire Handbook, too. And yet I still wouldn't claim expertise on the subject matter.

As to Joubert Syndrome, you are quoting the article accurately. I listed all the genetic syndromes for simplicity; far be it from me to leave out one. Also one recent study doesn't necessarily invalidate prior research on the condition.

Coleman also lists Joubert Syndrome on page 7 (see http://www.amazon.com/Neurology-Autism-Mary-Coleman/dp/0195387767/ref=sr_1_1?ie=UTF8&s=books&qid=1292458192&sr=8-1 if you don't feel like buying and reading the book).

While we may quibble over semantics; are these known causes or merely overlaps in genetic syndromes and meeting the diagnostic criteria for autism, again there is widespread agreement that the syndromes listed are found in individuals with syndromic autism.

Alvarez et al., (and here I admit to quoting the abstract for convenience sake) write "A significant proportion of patients with JS, in some studies up to
40%, have been diagnosed with autism spectrum disorder (ASD) and several linkage studies in ASD have
nominally implicated the region on 6q where AHI1 resides. To evaluate AHI1 in ASD, we performed a threestage analysis of AHI1 as an a priori candidate gene for autism. Re-sequencing was first used to screen AHI1, followed by two subsequent association studies, one limited and one covering the gene more completely, in Autism Genetic Resource Exchange (AGRE) families. In stage 3, we found evidence of an associated haplotype in AHI1 with ASD after correction for multiple comparisons, in a region of the gene that had been previously associated with schizophrenia. These data suggest a role for AHI1 in common disorders affecting
human cognition and behavior."

Ozonoff et al. note "This study’s primary finding is that a diagnosis of Joubert syndrome does not rule out a diagnosis of autism.
Autism is a behaviorally defined syndrome that can be the
manifestation of various medical conditions: it has been
found in tuberous sclerosis complex, fragile-X syndrome,
Down syndrome, untreated phenylketonuria, Angelman’s
syndrome, and now Joubert syndrome."


Now, I'm just guessing here, MJ, that's all I can really do, but my thought here is you just flat out don't like me, so you picked one paragraph out of a study to try to nitpick me and needle me. :-) But hey, I'm just guessing. What do I know?

References:

Alvarez Retuerto, A., Cantor, R., Gleeson, J., Ustaszewska, A., Schackwitz, W., Pennacchio, L., et al. (2008). Association of common variants in the Joubert syndrome gene (AHI1) with autism. Human Molecular Genetics, 17(24), 3887-3896. Retrieved from MEDLINE database.

Coleman, Mary. The Neurology of Autism. (so very worth 20 bucks, really--you still won't be able to claim expertise, but you'll have a solid foundation of what the neurologists studying autism and genetic syndromes know, at least as of 2005).

Ozonoff, S., Williams, B., Gale, S., & Miller, J. (1999). Autism and autistic behavior in Joubert syndrome. Journal of Child Neurology, 14(10), 636-641. doi:10.1177/088307389901401003.

KWombles said...

MJ,

Also interesting and worth providing is the closing paragraph of Ozonoff et al.:

"Just as the correct diagnosis of Joubert syndrome is critical to appropriate medical management of these children, so the diagnosis of autism could be critical to their proper educational and behavioral management. Quite a lot is known about how to teach children with autism, no matter which (if any) medical condition underlies it. Given the high cost that Joubert syndrome exacts on development, any
intervention that might be even remotely applicable should
be explored."


Hmmm, "quite a lot is known about how to teach children with autism, no matter what medical condition underlies it." Isn't that an interesting thing for folks who think not much is known to read? And that was 11 years ago.

Ozonoff, S., Williams, B., Gale, S., & Miller, J. (1999). Autism and autistic behavior in Joubert syndrome. Journal of Child Neurology, 14(10), 636-641. doi:10.1177/088307389901401003.

MJ said...

If you really want to quibble about Joubert, perhaps you should consider this study -

Takahashi TN, Farmer JE, Deidrick KK, Hsu BS, Miles JH, Maria BL. Joubert syndrome is not a cause of classical autism. Am J Med Genet A. 2005 Feb 1;132(4):347-51. PubMed PMID: 15633174.

"The JS families had significantly lower rates of autism ... than the autism families. (snip) None of the JS children met the clinical cut-off for autism based on parental symptom report and the sib recurrence risk was 32% for the JS families compared to 4% for the autism and 0% for DS families. These data indicate that JS is a genetically distinct disorder from autism."

Doesn't get much clearer than that.

As for Alvarez et al, that study looked for similar genetic mutations in ASD populations but was not exactly conclusive in showing that the mutations of AHI1 are a known cause autism.

But we could really both misquote studies all night long - the point is that Joubert is not a non-debated "cause" of autism as you asserted above.

And if you think I cherry picked just one paragraph, well, then perhaps you should also consider some of the others, such as the one on Williams Syndrome -

"The most salient difference between people with ASD and people with Williams syndrome is their social behaviour. ASD is defined on the basis of profound impairments in social functioning, including difficulties interacting with others, attending to people, and decoding non-verbal cues, and impairments in social emotional reciprocity. In contrast, people with Williams syndrome show an unusually strong interest in people, including strangers; they are warm and engaging and seem highly empathetic towards others."

Yes, I can see how a genetic condition that causes the opposite behaviors could be considered a "cause" of autism. How exactly would that work?

And I am completely ignoring the fact that many of the other genetic conditions in your list are described as having an "increased risk" of autism rather than being a cause. For example, phenylketonuria -

"The exact percentage of individuals with phenylketonuria who display autistic symptomatology is difficult to determine, especially since the introduction of treatment. Recent studies found an autism frequency ranging from 2.7 / 10066 to 5.6 / 10067 in individuals with phenylketonuria"

If autism is only 2 to 3 times as common in this group as in the general population, you have to wonder whether it "causes" autism or is it rather associated with something else that is the "cause". This would be like saying that older parental age "causes" autism because children of older parents have a greater risk of autism. It isn't the age that causes the autism but rather something that is associated with the age.

Just as correlation is not the same thing as causation, increased risk is not the same thing as causation either.

And then there are the conditions that give "autistic-like behaviors" or "features" of autism such as 22q13.3 -

"Behaviour may be autistic-like with poor eye contact, stereotypic movements, and self-stimulation. The SHANK3 gene may be responsible for at least part of the phenotype, such as developmental delay and speech deficits.59"

"Autistic-like" behaviors are not automatically the same as autism. By that logic, conditions that can look a lot like autism - such as schizophrenia - would be considered "causes" of autism (yes I know there are thought to be many genetic overlaps between the two). But if you have schizophrenia you don't have autism, not matter how many "like" behaviors there are.

As for this being a simple matter of dislike, no sorry that isn't it. Your list was in response to my comment so I think it is appropriate to quibble when you greatly overstate your case.

KWombles said...

MJ, I knew you'd lead with that! :-)

Dueling studies!

Okay, so, we've got a major text in the field and three articles cited so far (one from 2008 which trumps your 2005 study).

Let's add some more:

From the Joubert Research Center:

"3. Is there a connection between Joubert and Autism?
There is a connection, but it remains somewhat unclear. Autism is a relatively common condition, occurring in 1 in 500 children, and is more likely in boys with a 4:1 male:female ratio. There are likely many different causes for this increasingly common diagnosis. Features of classical autism include poor eye contact and limited communication skills as well as repetitive or self-stimulatory behaviors. Autism has been reported in a number of children with Joubert syndrome in several publications [Holroyd et al 1991; Ozonoff et al 1999]. However, more recent surveys suggest that these behavioral disturbances do not represent classic autism, but are more likely to be related to the underlying cerebellar disorder, eye movement problems, and associated developmental disabilities [Takahashi et al 2005]. It is likely that some children with Joubert syndrome have one or more features that are considered part of the diagnosis of autism, but in our personal experience, few children and adolescents with Joubert syndrome would be described as “autistic.” The behavioral and communication issues that children with Joubert syndrome often manifest can be challenging, but are not typical for the communication disturbances and lack of social connectedness seen in children with autism. Some children with Joubert syndrome seem to process sensory information differently, and similar types of issues can also be seen in children with autism. However, the severe problems with balance and coordination in Joubert syndrome are not typical of autism, as many of these children have normal muscle tone and motor skill acquisition."

http://depts.washington.edu/joubert/faq.php

From NINDS:

"Joubert syndrome affects about one in 100,000 children — approximately 40 babies per year in the United States. It includes an absence of the cerebellar vermis, or the midline of the cerebellum, and an unusual brainstem feature called the “molar tooth sign” (because it looks like a tooth) that can be seen in brain scans. There are several forms of Joubert syndrome. Symptoms vary, but they generally include poorly controlled movements and mild to moderate mental retardation. Other symptoms may include seizures, kidney failure, breathing abnormalities, extra fingers or toes, and autism."

See that there, the last word there? Autism. Wow. On the NINDS site.

http://www.ninds.nih.gov/news_and_events/news_articles/news_article_Joubert_genes.htm

That's a start, what do you think? I think I've got more citations that are relevant than you do at this point.

KWombles said...

MJ,

I didn't overstate my case. I didn't misquote, either, but since you're insistent that you had accurately paraphrased my tip 6 from my bioray article, I can completely understand how you might think so.

If you want to quibble about the semantics of known cause versus risk factor, you need to take that up with the experts in the field who have used that language.

Autism is diagnosed based on a set of behaviors. Period. If the autistic-like behaviors rise to the threshold for diagnosis, it's autism. It's fascinating that there are some in the autism community who are absolutely insistent on the above statement until it isn't conducive to their beliefs. I'm not saying that fits you; I'm just noting the tendency in the community.

MJ said...

"That's a start, what do you think? I think I've got more citations that are relevant than you do at this point. "

Perhaps, but quality matters more than quantity. And that isn't really the point, the point is that this -

"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."

is not a factual statement. There are "experts" (at the very least two) in the field who don't agree that the relationship between Joubert and autism is a fact. When published studies disagree I would could that a debate, wouldn't you?

And, I noticed you ignored the point about Williams. Care to point out any "experts" in the field who agree that it "causes" autism or will you concede that point?

"but since you're insistent that you had accurately paraphrased my tip 6"

What, are you still complaining about me calling credentials a pedigree? In all seriousness, I have actually been asked, in a professional setting, what my "pedigree" is as it relates to my educational experience and other professional credentials. You might not like the word and I would admit to being a little flippant in using it, but it is a valid usage of the word and completely consistent with that you said -

"Tip off number 6: Look at the credentials of the persons running the company."

According to http://www.learnersdictionary.com/search/pedigree it means

"the history of the family members in a person's or animal's past especially when it is good or impressive [count]"

or

"the origin and history of something especially when it is good or impressive [count]"

Sheetz.

"you need to take that up with the experts in the field who have used that language."

Appeal to authority? Really? I expected a better come back than that.

I suspect that most "experts" fully understand the difference between a risk factor and causation. You made reference to this idea in your past post on the JAMA Mito paper -

"Perhaps the most relevant limitation that the study authors themselves note is this: "inferences about a cause and effect association between mitochondrial dysfunction and typical autism cannot be made in a cross-sectional study.""


And, as a matter of fact, the paper you quoted refers to the genetic conditions as risk factor in many of the several cases and makes very little reference to them as "causes". From the first section of the study -

"Genetic screening represents a powerful tool when dealing with monogenic Mendelian disorders, characterized by direct genotype–phenotype correlations. In the case of complex disorders, such as ASD, widespread genetic testing would be not only expensive and time-consuming, but also generally inappropriate owing to their aetiological complexity.4 Nonetheless, genetic testing can be successfully used in complex disorders to evaluate the degree of genetic susceptibility to a certain disease and to identify rare monogenic or cytogenetic forms of the disease

Correlations, "genetic susceptibility", hmm, sounds like they are all "causes" to me.

"Autism is diagnosed based on a set of behaviors. Period. If the autistic-like behaviors rise to the threshold for diagnosis, it's autism."

I actually agree with that statement one hundred percent. Given the current definition of autism, if the behaviors pass the threshold for diagnosis it is autism - regardless of what the underlying cause is. But the flip side to that is if the behaviors don't rise to that level then it isn't autism. The phrase "features of autism" as it is used in the literature ususally refers to the second case, not the first.

KWombles said...

MJ,

You must have missed the two boxes on the upper left, as well as the key point to your one study.

The literature supports it (the connection). One study concludes that children with Joubert Syndrome do not have classic autism. Indeed, they don't; they may have syndromic autism: "These children would be considered to have secondary autism, that is, secondary to another genetic or medical diagnosis" (Takahashi et al., 2005). There you go; even this study proves the point.

The error is in not being able to distinguish between classic autism and syndromic autism (and this is a reflection of the fact that the literature does not trickle down well).

In addition, not all appeals to authority are fallacious. Just a refresher for you, mate:

"An Appeal to Authority is a fallacy with the following form:

Person A is (claimed to be) an authority on subject S.
Person A makes claim C about subject S.
Therefore, C is true.

This fallacy is committed when the person in question is not a legitimate authority on the subject. More formally, if person A is not qualified to make reliable claims in subject S, then the argument will be fallacious.

This sort of reasoning is fallacious when the person in question is not an expert. In such cases the reasoning is flawed because the fact that an unqualified person makes a claim does not provide any justification for the claim. The claim could be true, but the fact that an unqualified person made the claim does not provide any rational reason to accept the claim as true."

There you go, when the individuals are authorities in a field and speaking on that field, it's a valid appeal to authority.

I'm happy to go where the evidence leads; I'm happy to qualify that there is much that is not known, that experts in the field move from the very authoritative known causes to softer language that still connotes a strong connection between genetic syndromes and syndromic autism. I'm also more than willing to stipulate that even accounting for known genetic syndromes that also have an overlapping diagnosis with autism that more cases of autism have no known cause and no obvious risk factors.

I may not be willing to stipulate my expertise in the field, as it would be the height of arrogance to place myself on par with the true experts in the field, but I am more than willing to follow their lead and accept the conclusions of their scientific research.


Quote from
http://www.nizkor.org/features/fallacies/appeal-to-authority.html

It's a wonderful site, MJ; I use it extensively with my developmental writing and freshman comp classes. And they can actually detect the difference between a fallacious appeal to authority and a legitimate one. Ain't that grand? :)

MJ said...

Talk about selective quoting, how about putting in the full context of the statement in Takahashi -

http://www.genetics.missouri.edu/JoubertAutism.pdf

"While none of the children in this study met the clinical cut-off for autism using the ABC, 13% exhibited borderline clinically significant symptoms; it would not be unexpected for some children with JS to meet ADI-R criteria for a behavioral diagnosis of autism. These children would be considered to have secondary autism, that is, secondary to another genetic or medical diagnosis."

The children did not have have a diagnosis of autism but rather the authors were speculating that they might have and were saying that IF they did it would be considered secondary. Speculation is not data.

That is a long way from the assertion that Joubert is a undisputed genetic cause of autism.

KWombles said...

MJ,

Researchers are in general accord that the syndromes listed are "known causes" of syndromic autism. You're going beyond what I presented, but if it pleases you, I'll allow that "Joubert is a undisputed genetic cause of autism" is an overstatement; of course, I didn't quite make that statement, and I provided solid resource after solid resource to back what I did state, but I know how you love to quibble. I'm sure it warms the very cockles of your heart to quibble, that if you had nothing else to do, you would quibble to your heart's content. :-)

Takahashi et al., is not really disputing the likelihood of secondary (or syndromic) autism; the study looked at classic autism vs Joubert (and Downs).

My quote is no more selective a quote than any other; we can't duplicate the study in its entirety here as that would violate copyrights.

Let's take another selective quote, shall we, from the same study?

"There are a number of limitations of the study that must be
acknowledged. The JS population was strongly biased by its
selection at a Joubert FoundationMeeting,which undoubtedly
accounts for the large number of multiplex families. Moreover,
the JS population size is too small to explore questions of heterogeneity within JS. Nevertheless, our data indicate quite strongly that the genetic bases of JS and autism do not
etiologically overlap, and that JS is not a frequent cause of
autism."


Fascinating, isn't it? It's "not a frequent cause of autism."

MJ said...

"You're going beyond what I presented"

Need I remind you I started out with exactly what the study you cited said?

"I'm sure it warms the very cockles of your heart to quibble, that if you had nothing else to do, you would quibble to your heart's content. "

Gosh, you know me so well.

"Takahashi et al., is not really disputing the likelihood of secondary (or syndromic) autism; the study looked at classic autism vs Joubert (and Downs)."

How exactly is "secondary" autism different from "classical" autism? Does one score differently on the ABC? Any how can you reconcile that with your statement -

"Autism is diagnosed based on a set of behaviors. Period. If the autistic-like behaviors rise to the threshold for diagnosis, it's autism."

The study screen for autism using a validated instrument. Period.

"My quote is no more selective a quote than any other; we can't duplicate the study in its entirety here as that would violate copyrights. "

Well, yes, it wasn't selective unless you consider the fact that you left the main point of the paragraph. We may not be able to duplicate the study here but that is why I included a link to a site that provides the text of the study free of charge -

http://www.genetics.missouri.edu/JoubertAutism.pdf

I would suggest that anyone else who is interested read it for themselves.

"Let's take another selective quote, shall we, from the same study?"

I think I prefer this selective quote -

"When the Joubert families were compared to autism families, we found different male to female sex ratios, different recurrence risks, and different family history profiles. This indicates that JS and autism are genetically distinct disorders with no evidence for a shared genetic liability."

No evidence for a shared genetic liability. Yupe, sounds like a "general accord that the syndromes listed are known causes of syndromic autism" to me.

But as much fun as this is, this dicussion is getting pointless.

KWombles said...

Well MJ, truthfully, I'd have said it was pointless many comments ago, although I enjoyed the dueling studies.

You might want to go ahead and purchase that Coleman book; I'm pretty sure you really either don't understand that secondary (or syndromic) autism is when there's one of those underlying genetic syndromes. Classic autism is when no underlying genetic syndrome has been discovered and there are no stigmata to suggest an underlying genetic disorder.

Feel free to drop by and comment on a post when you're not feeling the need to demonstrate your mental superiority. :-) I bet we can have even more fun being supportive and building community. After all, we're both parents of multiple children on the spectrum. I bet there's way more we agree on than disagree on.

If you don't come back before Christmas, let me wish you and yours a happy one.

KWombles said...

Hey MJ, I'm sorry, I didn't realize the last two comments were trapped in the filter! I read them in the email and responded from the emails.

MJ said...

"I'm pretty sure you really either don't understand that secondary (or syndromic) autism is when there's one of those underlying genetic syndromes."

You know the ironic thing, at least to me, is that you don't seem to understand how far off base your statements are. I do actually grasp quite well the difference between idiopathic and non-idiopathic autism is. Although, that and secondary autism are just fancy ways of saying that sometimes we think we know caused the autism and other times we don't.

The truly funny thing is that I was talking to a geneticist today and we were discussing their findings with regards to my children. Why do you suppose I was doing that?

"Feel free to drop by and comment on a post when you're not feeling the need to demonstrate your mental superiority."

Sigh. And I thought we were doing so well. Here is a hint for the future - if you comment on something that I said and I disagree with your statements or think that they are not factually accurate, then you might expect me to respond. If you feel that is a "need to demonstrate [my] mental superiority", well, you are entitled to your opinion.

Regardless, have a happy holiday season.

KWombles said...

MJ,

I didn't think we were doing badly at all. If you can't catch a bit of a tease in regards to mental superiority, then...


I see, though, based on your last comment, that I can assume that if there's a post you don't comment on, it's because you agree completely, not because you only selectively read posts that you think will give you something to, umm, 'disagree' with me on. Good to know. :-)

Hah, I'm far off mark. Thanks for starting my Friday morning off with a chuckle! Cool, we're even. As I tell my students, if I'm right and you disagree with me, it must mean your wrong.

It's a good thing I don't like solitaire, as I might as well have been doing that instead. It boils down to a semantics game with you: know and think being the differences that are operative here. Takahashi isn't quite arguing what you want it to be, and I demonstrate that repeatedly, but I'm off the mark. You ignore all other studies, refuse to even comment towards the Coleman text, and stick to the Takahashi while ignoring its own limitations and pieces demonstrating the overlap between Joubert and autism.

Plus, in all this the arguing over whether it's a known/suspected/huh, that's a freaky coincidence, you didn't handle the meat of the post itself: that there is a dangerous gap in knowledge between researchers and consumers. I guess that means you agreed with everything else. :-)

KWombles said...

Because making sure I understand the literature and am current on it is important to me, I've spent some time today continuing to look through the literature relating to genetic syndromes, autism, and ID.

It cannot be successfully argued based on the current research available that there is not a connection between syndromic autism and genetic syndromes listed in my post, to include Joubert Syndrome.

Current literature continues to link a higher incidence of autism diagnoses in individuals with Joubert Syndrome. At this point, the consensus, even in Takahashi et al., supports that Joubert Syndrome is a medical condition that underlies some autism diagnoses at a greater rate than in the general population.

This article from 2010 is a current article that continues the previous articles' contentions:

"Many ID syndromes have an incidence of autism that is significantly higher than the incidence for the general population. For example, A current review of the literature shows that 25–47% of individuals with fragile X syndrome, 5–10% of individuals with Downs syndrome, and 16–48% of individuals with tuberous sclerosis (TSC) have a concomitant autism/PDD diagnosis, compared to 0.3–0.6% in the general population (Fombonne 2003, Molloy et al. 2009). Other ID syndromes that have high incidences of concordant autism include Angelman syndrome, Rett syndrome, Joubert Syndrome and Cohen syndrome" (Kaufman et al. 2010).

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/


MJ,

I'd respectfully submit to you that I am not far off the mark, as you assert. The question comes down to semantics and pedanticism, and as much as I love both those things, I believe I have reported fairly and accurately on the literature (all of which I assure you I read fully and completely).

The quibble comes down to the level of certainty in "known" causes. We "know" smoking causes lung cancer, based on the correlation despite the fact that correlation doesn't necessarily mean causation. Ray et al. (2010) write "Cigarette smoking is causally related to several cancers, in particular lung cancer, yet for some cancers there are inconsistent associations." And yet this "causally related" is based on correlations. In other words, researchers and experts in the field may and do move from more reserved language regarding correlations to stronger, more absolute language regarding causation as the research is replicated, even when it is only correlational.


Smoking article: Cigarette Smoking as a Cause of Cancers Other Than Lung Cancer: An Exploratory Study Using the SEER Program
Chest chest.09-1909published ahead of print February 12, 2010,

Science Mom said...

Just as correlation is not the same thing as causation, increased risk is not the same thing as causation either.

I honed in on this statement because it isn't necessarily true and perhaps a causing a gridlock in the conversation. I am not as current on all of the data that is being used here and cannot possibly get up to snuff so I will address generalities.

There is overlap between risk and cause. for example, smoking is a risk factor for lung cancer but also is a cause of lung cancer even though there are multiple risk factors and causes. The same holds true for congenital rubella syndrome (CRS). Maternal infection with rubella is a risk factor for both CRS and autism (depending upon the stage of gestation) and is also a cause of CRS and autism.

For Joubert Syndrome, what is the expert consensus? I wouldn't use a single data set as strong evidence one way or the other. So I would defer to what multiple expert opinion has to say.