NPR’s Asperger’s FAIL

NPR’s “All Things Considered” ran a piece today on the difficulties in defining “mental disorders.” Based on what is posted on their site regarding the piece, they essentially report the opinion of one man, Allen Frances, who has taken it upon himself to do two selfish things. The first is that he blames himself for what he calls the “Asperger’s epidemic.” The second is that he felt compelled to discuss some unfounded–or at least, unsupported–assumptions about Asperger’s diagnoses on NPR.

Frances, former chief of psychiatry at Duke University Medical Center, was the editor of the previous edition of the “mental disorders” bible, the Diagnostic and Statistical Manual of Mental Disorders. We’re coming up on the fifth version of this hefty tome. From my personal experience, by the time it comes out, research will be about five years ahead of much of what it contains. But never mind that. Frances’ issue with IV was that it contained Asperger’s as a diagnostic category (he has other issues not addressed in the NPR piece). He describes having acquiesced in its inclusion based on needs expressed by professionals who were seeing children with autism-like behaviors that weren’t as severe as the disorder known as autism.

Now he regrets that. Why? Because so many children are now being diagnosed with Asperger’s. As the parent of a child with autism, as the friend of many families with parents or children with autism, as the acquaintance of many grown people with autism–including Asperger’s–I can say that many of us would perceive that increase as a good thing. Why? Because that means more people with autism are able to recognize what makes them tick, and it helps them to know that yes, in a world where many of us feel like Temple Grandin’s aptly described “anthropologist on Mars,” there are a lot of other like-minded anthropologists out there.

That’s not Frances’ take. Based on a study done at the time IV was formulated, Asperger’s was “vanishingly rare.” That’s not too shocking given that for most professionals, it didn’t exist yet. The explanation that he offers for the increase in Asperger’s cases isn’t that there is now a diagnostic category for it, but that people–parents, presumably–seek the diagnosis so that their children can get services at school. This part is worth quoting from the piece:

“And so kids who previously might have been considered on the boundary, eccentric, socially shy, but bright and doing well in school would mainstream [into] regular classes,” Frances says. “Now if they get the diagnosis of Asperger’s disorder, [they] get into a special program where they may get $50,000 a year worth of educational services.”

The clear inference to draw from this is that there are hundreds of medical professionals out there deliberately stretching the diagnostic checklist for Asperger’s to cover children who are “doing well in school” and who are “socially shy” (what other kind of shy is there?). I have a few problems with this scenario.

First, if your child is doing well in school, you don’t get services. Services are for academic support. Period. There aren’t “special programs.” A child may have academic supports from almost nothing to a full-time aide in an integrated classroom to exclusion in a resource classroom. There is no one “special program.” That’s one reason they call those things INDIVIDUAL education plans. Regardless, if you’re doing well academically, you don’t get these supports. If you have speech or motor deficits, you receive appropriate therapies. But the deficits have to be there–they’re not something you just make up.

Second, if your child is doing well in school, parents and schools and medical professionals don’t generally go looking for a label to slap on the child. Parents seek help because their child has a problem or problems. The gold standard for calling something a disorder is if it interferes regularly with the general processes of daily life. Doing well in school but being “shy” doesn’t meet that standard. With autism, with Asperger’s, we’re talking about debilitating, meltdown-inducing, terror-filling anxiety. There is a difference.

Third, I don’t have a clue where he got the monetary value from, and NPR provides no balance for that statement. It’s just sitting there, making any family with a child receiving any services look like a faking money suck. Nice.

The piece as presented on the NPR Website provides nothing in the way of confirmation from objective sources. No studies indicating overdiagnosis. No input from experts in autism confirming what Frances says. His off-the-cuff commentary, his self blame, his stirring the pot all just sit there, unchallenged. Even the apparent effort at “balance” at the end of the story is almost a non-sequitur, part of a story with no real core. It’s as though they can’t make up their minds about whether the piece is about difficulties of diagnosis in general, the blurred lines between disorder and merely discombobulated, or that Asperger’s in particular is an overdiagnosed condition.

They don’t even provide Frances’ qualifications to speak to autism in particular. Not all doctors are oncologists, and not all psychiatrists have a deep understanding of developmental disorders.

All in all, a shoddy presentation that is already making its way around the Twitterverse, with parents once again feeling as though they have to defend their child’s diagnosis of a developmental difference that often goes unseen. Here’s the deal: The diagnostic criteria are clear, and a child who’s merely eccentric and doing well in school does not fit those criteria. If there is some modicum of overdiagnosis, it’s certainly not because of parents overseeking a label so they can have their child be stigmatized at school by receiving services. Look to the diagnosticians to blame. Or, in the complete absence of any evidence from Frances himself or NPR, do what Frances asks and blame him. Given his focus on his regrets over IV, he clearly seems to have something to expiate. And so does NPR. I’ll turn to D.H. Lawrence and say that thing is…a pettiness.

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Did Jesus walk on water?

Is Jesus standing on ice in this image? Source: Trimmer, Sarah. A Series of Prints of the New Testament. London, 1790. Eighteenth Century Collections Online. Wikimedia Commons.

A miracle subjected to science…for the holidays…

Timeline, 2007:  A New Testament story has become so symbolic the ability of Jesus Christ to transcend the natural world that its single catchphrase—walking on water—encapsulates the idea of one who can perform miracles. There is even a lizard, the basilisk lizard, that is sometimes called the “Jesus Christ lizard” because it can sprint across the surface of a pond. Of course, the lizard relies on the laws of physics and the surface tension of the water to accomplish this feat.

Now, according to researchers at Florida State University, it’s possible that a person stepping off the shore of the Sea of Galilee 2000 years ago might well have stepped onto a layer of ice thick enough to bear a man’s weight. The researchers stop short, however, of designating theirs as the true explanation for the presumed miracle of Christ’s walk on water.

How a mere mortal might walk on water

To tackle a natural explanation of walking on the surface of the Sea of Galilee—which is Israel’s largest freshwater lake and known to Israelis as Lake Kinneret—Nof’s team turned to the Mediterranean. They took core samples from the bottom of the sea and used the layers to infer weather patterns from 2500 to 2000 years ago. The cores contain layers of shells, and the animals these shells represent give clues about prevailing temperatures over time. The team found that at the time of Jesus, the Mediterranean was about 4 degrees cooler. Because water heats or cools slowly relative to air, the air temperature must have been even colder.

Based on this and other inferences, they determined that temperatures around the time Jesus and his disciples lived may well have fallen into the 20-F range during cold periods. Today, Lake Kinneret does not see such low temperatures, and the chances of ice forming on its surface are about once every 10,000 years…in other words, never. But 2000 years ago, the chances might have been as high as once every 30 to 60 years, according to the researchers.

Spring ice is no miracle

One factor influencing their conclusion is the saltwater spring in the area, which could produce a plume of saltwater underlying the freshwater. Thus, when the air temperature dropped below freezing, only the top part of the lake responded to the temperature and only the top part of the lake froze. A lake that seemed liquid could, as a result, have had a sheet of ice, possibly 4 to 6 inches thick, lying unseen near its surface. The researchers call this phenomenon “spring ice.”

In the story of the New Testament, which is repeated in three of the four gospel accounts, Jesus is on the shore of the lake as a fishing boat with some of his disciples approaches, tossed and battered in a raging storm. To the disciples’ amazement, Jesus steps from the shore and walks to them, across the surface of the water. The disciple Peter, who is on the boat, also tries to step into the water and walk on its surface, but he sinks. Jesus calms the storm and saves them.

Theology aside…

Nof’s idea not surprisingly elicited a lot of controversy, and at least a few people have taken non-theological issue with the conclusions. For example, relatively quiet, calm conditions would be required for spring ice to form, yet the fishermen were described as being caught in a storm with high winds and huge waves that threatened their craft. In addition, the New Testament accounts make reference to their using oars, and being on a ship and using oars over a layer of ice would have been difficult, at least. Jesus himself might have had to wear crampons to avoid falling on the divine rear-end when stepping onto the ice. And there is also the issue of what happened with poor Peter, who either could not walk on water because his faith faltered or found no ice on which to walk.

Autism, SHANK, and busy highways

Two autism studies in the news. I’ve summarized them at the Thinking Person’s Guide to Autism here. Let’s just say that the headlines, stories, and news releases have hyped yet again. Indeed, the title of this post should’ve been: “Headlines hype, news releases overpromise again in autism research.”

The worst offender is easily, “Proximity to freeways increases autism risk, study finds.” Um, no. The study found that autism rates are higher among people living within 309 meters of freeways. That in no way means that living close to a freeway increases autism risk. It’s a common, basic overinterpretation of correlation and epidemiological conclusions, but it’s really starting to get old. You can read more about the fuzzy definition of “freeway” and “major road” here.

The dumbest science question ever?

From NASA/Wikimedia commons: The Hubble image shows the paired galaxies very close together with streams of stars being pulled out of the galaxies. The colliding "parent" galaxies lose their shape and smoother galaxies are formed. The whole merging process can take less than a billion years.

I don’t know if this qualifies as the dumbest science-related question ever, but it’s one that’s been bothering me for, oh, years. If you google it, the hits that turn up are, ironically, all religion related, and no help at all.

The question: Why was life such a hit? Rephrased: Why did life, once it got going, persist?

Maybe you know what I mean. Everywhere we look on Earth (almost), we find life. In places where you’d think nothing could evolve, much less survive. There are the bacteria living two miles deep in the Earth, the life flourishing in lava tubes, the organisms that surprised us in such inhospitable places as geothermal vents, Antarctic lakes, and yes, Mono Lake in California.

Why was life such a big hit once Nature got things going? In a more evolutionary context, what benefit do natural processes derive from life? Even after cataclysmic losses in mass extinctions, life bounces back.

Yes, of course, after those extinctions, niches were more readily available than a cheap foreclosure in Las Vegas. And of course, when life first arose, the world was one big niche just waiting to be partitioned. But why are there no boundaries on the blue planet? Hardly anywhere to go where life isn’t?

Like I said, this could be the dumbest science-based question ever asked. I’m assuming some kind of evolutionary context for life itself in the larger backdrop of the physical world, a world that evolves ever so inexorably to a universal heat death that our little minds (or maybe it’s my little mind) can scarcely encompass. Do life and its many processes get us there faster, urge entropy’s expansion? That, of course, assumes some ultimate, seemingly predetermined goal of transformation into heat and an ultimately messy demise.

That assumption may be and probably is a huge misstep. After all, the universe has got some pretty big transformation engines without turning to a teensy little mechanism like life. In other news, it would actually link the second law of thermodynamics and evolution directly, instead of leaving them as fodder for arguing creationist worldviews.

But it feels like a big question. The related question is, Is it a big, stupid question?

Scientists are evil, emotionless, conniving bastards or superheroes, or something. Do we have movies to thank?

What’s your scientist stereotype? If you are one, you may not have a broad scientific stereotype, but the public seems to have developed a few boxes into which scientists find themselves confined. I blame the movies.

Evil alien stalkers bent on tissue samples

Take E.T. The scientists stalk small children and cute, wrinkly aliens. They wear white lab coats (natch), scary masks, and seem to care more about carcasses for autopsy and sampling than they do about a little boy screaming in terror over the death of his alien friend. Sure, there’s that one guy Peter Coyote plays (and I noticed his striking manly looks much more in my most recent viewing than I did as a young teen), but generally…the scientists are the (really, really) bad guys. Thanks, Spielberg!

Emotionless. Not even human!

Or Alien. Who’s the asshole on that ship? The science officer. And he’s not even human. Just like a real scientist!

How about Mr. Spock? Chief science officer. Doesn’t understand emotion. Or that poor scientist in Independence Day, played by the guy who played yet another emotionless sciborg type, Data, on Star Trek. That guy? He gets killed by the aliens, primarily because he’s a major science dork.

Scientist as savior…or stupid bumbling fool

And if they’re not evil or dorks or emotionless automatons who will try to kill you with a magazine, then they’re the saviors, the ones who can enter with the science babble and save the world at the right moment (although that’s just so, well, fifties, isn’t it?). Unless, of course, they’re so bumbling and stupid that they can’t save the world and someone with no science training whatsoever but all the emotional connection a human can have steps in and does it instead.

The scientist is ready for her close-up

Or, strangely enough, it’s kind of glamorous, like CSI or X Files or other mass-digested tales that make science look like it’s exciting 24-7, instead of, oh, maybe 1 out of 365. Sure, that 1 is a great payoff, but as many scientists can attest, there’s a lot of stuff that’s just not reality-show ready that happens before it.

Really, being a scientist can be quite boring…unless it’s not

What movies and shows get scientists right? People have kindly made lists. But the overall sense I get from my (admittedly gap-riddled) scan of my mental movie catalogue is that scientists are caricatures. Overpromising failures or superheroes for their grasp of esoterica, emotionless cyborgs or evilly brilliant and intent on taking you or anyone near you for research purposes.  It’s no wonder the public seems to view scientists as lifesavers until, of course, they turn into diabolical robots bent on lying their way to a world takeover.

In the face of what a real scientist is…someone who wades through bureaucracy; slogs over grants around all major holidays; counts mice or fruit flies or stars or days or hours or milliseconds; navigates tenure track or derails from it; self poisons by accident with radioactivity, reagents, toxins, viruses, bacteria, and EtBR; obsesses over that one stupid mouse that just refused to freaking cooperate; and understands the meaning of ddH20, NIH, NADP, R01, NSF, FISH, CAREER, IRB, IHC, IACUC, NIC, NIEHS, EDTA, and other members of the Regrouped for Jargon Alphabet Family…in the face of this, well, kind of boring list of things scientists must deal with in addition to the fun part of science, it’s no wonder that the reality gets no play.

Regroup and try again

Are there movies or shows that keep it real, that leave viewers with an accurate conception of the conduct of science? One that comes to my mind is Apollo 13, but that may just be because I’m obsessed with that film. Sure, it doesn’t show all the hard work, but it does depict a process and a series of failures and disappointments and what one must do to regroup and try again. In the end, I think that’s what scientists do the most: Regroup and try again. And that’s something that non-scientists likely don’t understand.

Take any recent scientific controversy. Climate change. Vaccines. If scientists don’t dig in their heels, behave as though the data were unequivocal, they get called on it. They’re expected to be right, right now. But if they do what’s right and equivocate, go back, try again, adjust as new information comes in, regroup and try again, then in the minds of the audience, they’ve undermined their entire argument.

Speaking of NASA

The recent NASA debacle set up just such a disappointment scenario. Like a movie plot, NASA promised a scientific breakthrough of enormous proportions. Like the science bad guys in the movie, they overpromised, and they let the world down. And like real life, the science met with challenge, the overpromising with deflation, the findings and the presentation with good, solid, loud, detailed discourse and rebuttal. It was great to see all those science types talking all that science.

But guess which outcome fit the stereotype? And guess which one the public likely noticed more? And what can scientists do about it? Regroup and try again?

Mitochondrial dysfunction and autism

Beautiful pic of mitochondria

Mitochondria are the powerhouses of the cell, the biology teachers will tell you. These organelles also happen to be likely former bacteria that once were independently living cells, capable of dividing on their own to make new mitochondria. Indeed, they continue to divide by a kind of binary fission as our cells divide, ensuring that a double dose is available for partitioning into the two new cells that result from cell division.

To achieve these feats, mitochondria have their own DNA, their own proteins, and their own protein-making machinery. That means that they also have the potential to undergo genetic mutations that affect the sequence of the proteins their genes encode. Because most of the proteins in mitochondria are mission critical and must function exactly right, the persistence of such mutations is relatively rare. But they do happen, causing disease. One question that has arisen in the study of the causes of autism is whether or not such changes might underlie at least a portion of the cases of this developmental difference.

The high-profile Hannah Poling case

Certainly lending a high profile to this question was the case of Hannah Poling, whose mitochondrial disorder appeared to be linked to her autism symptoms and may have interacted with a bolus of vaccine doses she received, followed by a high fever. Fevers can tax our cellular powerhouses, and if mitochondrial function is already compromised, the high temperatures and extra burden may result in chronic negative outcomes.

Poling’s case brought to the forefront the question of whether or not people with autism might have mitochondrial dysfunction at greater rates. A recent study in the Journal of the American Medical Association (which steadfastly keeps its articles unavailable behind a paywall) has sought to address that question by measuring markers of mitochondrial dysfunction in children with autism and comparing these endpoints with outcomes in children without autism.

Study specifics: “Full-syndrome autism”

The autistic group in the study had what the researchers called “full syndrome autism,” which I take to mean intense symptoms of autism. They used the Autism Diagnostic Inventory-Revised

(ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) to confirm this diagnosis and to ensure as uniform a population among their autistic group as possible. Ultimately, the study included 10 children in this group, recruited consecutively in the clinic based on their fulfillment of the selection criteria. This study was essentially case control, meaning that the control group consisted of 10 non-autistic children, selected to match as closely as possible the demographic characteristics of the autistic group.

The authors report that while only one child among the 10 who were autistic fulfilled the definitive criteria for a mitochondrial respiratory chain disorder, the children with autism were more likely to have indicators of mitochondrial dysfunction.

A problem with pyruvate dehydrogenase (break out your Krebs notes, folks)

Specifically, six out of ten showed lowered levels of activity for one parameter, while eight out of ten showed higher levels than controls for another metabolic endpoint, and two of ten showed higher levels than controls of a third metabolic endpoint. Overall, the results indicated low activity of a mitochondria-specific enzyme, pyruvate dehydrogenase, which is involved in one of the first steps of carbohydrate metabolism that takes place in the mitochondria. Reduced activity of an enzyme anywhere in this process will result in changes in the enzyme’s own products and products further down the pathway and throw off mitochondrial function. Further, half of the autistic group exhibited higher levels of DNA replication, an indicator of cellular stress, more frequently than controls and also had more deletions in their DNA than controls. Statistical analysis suggested that all of these differences were significant.

What does it mean for autism?

Do these findings mean that all or most people with autism have mitochondrial dysfunction? No. The study results do not support that conclusion. Further, the authors themselves list six limitations of the study. These include the possibility that some findings of statistical significance could be in error because of sample size or confounders within the sample and that there were changes in some of the endpoints in the autistic group in both directions. In other words, some autistic children had much higher values than controls, while some had lower values, muddying the meaning of the statistics. The authors note that a study like this one does not allow anyone to draw conclusions about a cause-and-effect association between autism and mitochondria, and they urge caution with regard to generalizing the findings to a larger population.

If there is an association, questions arise from that conclusion. Does mitochondrial dysfunction underlie autism, producing autistic-like symptoms, as some argued in the Hannah Poling case? Or, do autistic manifestations such as anxiety or high stress or some other autism-related factor influence the mitochondria?

Chickens, eggs, MRI, mitochondria, autism

As interesting as both of these recent autism-related studies are, we still have the “Which came first” question to deal with. Did autism cause the brain or mitochondrial differences, or did the brain or mitochondrial differences trigger the autism? Right now, these chicken-and-egg questions may not matter as much as the findings do for helping to identify autism more specifically and addressing some of its negative aspects. Regardless of your stance on neurodiversity or vaccine or acceptance or cure or the in-betweens where most of us fall, it would be difficult to argue that a mitochondrial dysfunction shouldn’t be identified and ameliorated or that an awareness of brain structure differences won’t lead to useful information about what drives autism behaviors.

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Note: More lay-accessible versions of this post and the previous post are available at BlogHer.

MRI, brain differences, and autism

MRI: Sagittal view of the brain. Photo courtesy of Wikipedia commons.

You may have read the news reports blaring the finding of an “autism test” that could lead to early and definitive diagnosis of autism. The new evaluation, which has proved worthy of its own name, the Lange-Lainhart test, uses magnetic resonance imaging (MRI) techniques to image brain areas to detect changes associated with autism.

I’ve been unable to find the complete paper, reported to have been published in Autism Research on Nov. 29; the journal has only papers through October available on its Website as of this writing. According to reports, however, the authors state that the new test was 94% accurate in identifying who was autistic and who wasn’t among 60 males tested. The participants in the study were ages  8 to 26; 30 were diagnosed with what the researchers call “high-functioning autism,” and 30 were typically developing.

The imaging technique the authors used involves tracing water diffusion along axons, the long connectors that link neurons to other neurons or tissues. This diffusion tensor imaging process yields an image that can highlight variations in the patterns of these connective pathways in different areas of the brain. This study focused on six brain areas associated with language, social, and emotional functioning, all of which are traditionally considered to be problematic among people with autism.

In the brains of non-autistic participants, the flow patterns were organized in a typical way that indicated connectivity among the brain regions. In the participants diagnosed with high-functioning autism, the flow was disorganized in a pattern common to the autistic group, indicating less connectivity and interaction and thus less exchange of information in the network. The researchers repeated the test on another, smaller set of participants, 12 with autism and 7 without, and produced similar results.

These findings imply that autistic brains may operate like a set of computer hardware components that cannot communicate very well with each other while still functioning perfectly well separately. There may be camera that captures a visual image without trouble or a microphone that captures a voice clearly, but the system lacks the network necessary to integrate the two inputs into a unified perception.

The news reports I’ve read on the study make a big deal out the prospect that this imaging breakthrough could lead to earlier diagnosis of autism, something that most experts believe is key to ameliorating some of its negative manifestations. But experts also urge the standard cautious optimism, and rightfully so.

For one thing, the participants in this study were ages 8 to 26, not within the time frame for early diagnosis of autism, and all of them were male. The study findings can’t tell us whether their brains present with these differences as a result of developing with autism, or whether they have autism because their brains are built this way. Before there can be talk of “early diagnosis” and linking these changes to manifestations of autism, we’d need studies showing these differences in much younger children. Further, given the frequent findings of differences between males and females on the spectrum, investigations involving autistic girls and women are necessary.

This study is not the first to use imaging to identify distinctions between autistic and non-autistic people. Other studies have also done so, finding pattern variations in the neuronal tracts of children with autism compared to children without it, in critical areas relevant to the clinical symptoms of autism.

While I find these results intriguing, I note one thing that no one seems to have commented on. In the reports I’ve read about this study, the researchers observe that currently, the only way to diagnose autism is based on a symptom checklist, questionnaires, screenings, and so on—any autism parents reading this will know that drill—and the ultimate call relies on the expertise of the medical professional conducting the evaluations. The implication of these comments is that we need some better, more unequivocal, less-subjective methods of identifying autistic people.

Yet, presumably the autistic boys and men they used for this study were diagnosed using just such subjective evaluation, and their autism diagnoses appear to have been confirmed in 94% of cases by similarities of MRI findings. In my mind, this outcome suggests that the process of subjective evaluation seems to be working pretty well. Of course, we’re a visual species and like our decisions to be given literally in black and white. Such MRI results may fulfill a need that has less to do with correct outcomes than it does with a dose of visual confirmation–and satisfaction.

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