Cognitive Styles, Stereotypes and Collateral Damage

(Cross-posted from my Tumblr)

I saw a really interesting post on Tumblr about, among other things, different disability stereotypes and some of the less-than-perfect ways different subsets of cognitively or developmentally disabled people cope with them.

The part of the post I'm responding to:

You know how there is a subset of badbrains people who are like “ACTUALLY, our BADBRAINS MAKE US SMARTER. We are not disabled, we are the NEXT EVOLUTIONARY STAGE, we are BETTER. There is us on the top, then normals in the middle, then unsmart r-word badbrains people on the bottom. Given time they will see.” And I was attracted to that subset of badbrains people for a while before I realise they were assholes (And also stopped being academically smart.) And there was a subset of the subset who said “the unsmart r-word badbrains were just expensive useless people who should die, I NEVER thought that (not that I deserve some kind of “not a murderer” cookie) but those people existed and exist. 

But I feel like there is also a subset of badbrains people who are like “ACTUALLY, our BADBRAINS MAKE US KINDER, we are a PURER  type of human, more whole and loving and sane, more Hufflepuff, than the normals. There is us on top, normals in the middle, and the evil heartless non-sensory, abstraction-based, heartless badbrains people on the bottom, they probably all worship Richard Dawkins and watch my little pony and are racist and rape everyone they meet. They are all just like Elliot Rodger, we should probably kill them before they kill us.”

The bolded parts ring true for me too.

I know that both types of “badbrains people” — the ones whose minds handle abstract concepts well, but don’t really get emotions or people*, and the ones whose minds don’t handle abstract concepts or words well but are good at empathy and perceptual, sensory stuff** — exist and have to deal with ableism from NTs, and have various ways of coping with that and saying, no, actually we have value and are good at things.

And I know that those coping mechanisms can turn into ways of hurting other DD/MI people — the ones whose cognitive styles are as different from our own as they are from the norm. We might think we’re trashing a stereotype but actually be trashing real people who share traits with the stereotype. 

I actually overlap a bit with both of the subsets of people you’re describing — most of the mockery I got in grade school was of the “look at the stupid R-word, she believes whatever you tell her” variety; I do live primarily in a world of sensory information and sometimes I’m not exactly within reach of words; I sort of straddle a line between very concrete, literal thought and more abstract, logical, analogy- and metaphor-based thought; I think very slowly and sometimes speak haltingly; but at the same time I’m very good at academics, including STEM subjects, I can be pretty far removed from my emotions (like, it took me until my 20s to even realize I was capable of certain emotions, or to express them), and I am ridiculously insensitive to nonverbal cues and emotional subtext in conversation.

The latter set of traits make me very much a stereotypical “Aspie” that autistics who don’t have those traits have been bashing as non-representative of what actual autism is like. I’m not really bothered by it because I know they’re right. My observations do tell me I’m in the minority in having those traits, especially the lack of affective empathy. 

The stuff I’ve seen from other autistic people has been more along the lines of “this type of autistic person doesn’t really exist” than “this type of autistic person is evil,” though.

(From NTs, of course, I've seen a whole lot of "this type of autistic person is evil" stereotyping. It's almost coming to replace the autism stereotypes I remember more from childhood, the ones that imagine us as having no inner life.)

*Continuing with the Harry Potter Sorting Hat theme in the quoted passage, it would probably make the most sense to associate this cognitive style with Ravenclaw, and maybe Slytherin.

**Probably more likely to be in Hufflepuff or Gryffindor

Autism Hearing Transcript: Dr. Alan Guttmacher

Before the first panel of expert witnesses started to speak, Rep. Issa spoke briefly to take care of some procedural business and to swear in the witnesses: 

Still image of Rep. Darrell Issa, taken from this video

____________________________________________________________________________________________________________________
I thank the gentleman [referring to Rep. Kucinich, who has just yielded back the floor]. 

On all sides, I now ask unanimous consent that our colleague from New Jersey, Mr. Smith, be allowed to participate in today’s hearing. Without objection, so ordered. 

I will announce that if any individuals would like to be in a little more comfortable situation, we do have an overflow room, so just let our staff know, they’d make sure that, if they gave up their seat here, that they’d be able to be in the overflow room. It may be more comfortable for some of our guests.

I now turn to our first panel. The distinguished Dr. Alan Guttmacher is director of the Eunice Shriver National Institute of Child Health and Human Development at the National Institutes of Health --- and I actually knew the namesake of your organization, during her time --- and Dr. Coleen Boyle is director of the National Center on Birth Defects and Developmental Disabilities at the CDC.

With that, pursuant to the requirements and rules of this Committee, would you please rise to take the oath

(pauses while Drs. Guttmacher and Boyle stand up)

Raise your right hands.

Do you both solemnly swear or affirm that the testimony you are about to give will be the truth, the whole truth, and nothing but the truth?

(Drs. Guttmacher and Boyle nod their heads)

Thanks. Please be seated, and let the record indicate both witnesses answered in the affirmative.

You are important witnesses and we will not stop you if you go slightly over five minutes, but we do have a large second panel and we would ask that you bear in mind that all of your opening statements and additional extraneous material you may choose to submit to us will be placed in the record, so if you abbreviate or go off-message, it doesn’t change the official record for you. And, with that, Dr. Guttmacher, you are recognized.
_____________________________________________________________________________________________________________________

Still image of Dr. Alan Guttmacher taken from this video

And here is Dr. Guttmacher's speech:
______________________________________________________________________________________________________________________
Thank you, Mr. Chairman.

I am also a pediatrician and medical geneticist, and a member of the Interagency Autism Coordinating Committee, or IACC, re-authorized most recently by the Combating Autism Reauthorization Act of 2011.

Let me thank the Congress for its continued support of research and other activities regarding autism spectrum disorders. That support has made possible remarkable advances in autism research and helped to better identify and meet the needs of people with ASD and their families.

ASD includes diverse conditions that share distinctive styles of, or impairments in, communication skills and social interactions, as well as restricted, repetitive, or stereotyped behaviors. The combination and degree of impairments vary, creating an array of conditions that range from what many would see as normal to significantly disabling. Two decades ago, ASD was thought rare. Today, with CDC’s latest prevalence estimates, it is a national health priority.

The IACC plays a pivotal role in bringing together federal agencies, nonprofit organizations, and the public to identify priorities and strategies to address them. It includes individuals on the autism spectrum, parents of children and adults with ASD, other advocates, researchers and service providers, and officials from federal agencies. The IACC welcomes public comment at all full committee meetings, and regularly invites written public comments and holds town halls. Thus, a diversity of perspectives on ASD informs IACC activities and recommendations. It is a committed group; while the law requires two meetings a year, the committee and its subcommittees meet as many as seventeen times a year. The law charges the IACC to update a strategic plan annually. We are drafting --- as always, with autism community input --- a 2012 update that includes the latest advances, remaining gaps, and emerging needs in autism research. The plan encompasses priorities from fundamental biology to services across the life span.

Over the past decade, autism research funding has grown substantially. The NIH leads federal research in ASD, investing $169 million in fiscal year 2011, three times more than ten years ago. In 2009 and 2010, $122 million in additional American Recovery and Reinvestment Act funds were also invested.

As Congress has emphasized, early diagnosis and intervention are critical. This year, NIH-funded researchers identified brain pattern aberrations as early as six months of age in infants who went on to develop autism, the earliest such changes ever recorded in autism, and one of a number of recent findings which suggest that the factors causing autism may operate very early in development. Last year, researchers demonstrated that doctors’ offices can use a short questionnaire to screen inexpensively for ASD at the one-year well-child visit. Another promising diagnostic tool, a one-minute test that detects eye-gaze patterns specific to autism, had nearly 100% specificity in infants as young as fourteen months.

But early diagnosis is valuable only if effective interventions are available. Recent ASD trials have validated early interventions to improve health outcomes and quality of life. For instance, a recent behavioral intervention study showed improved IQ, language, and social development in young children, and progress is also being made on interventions for adults. A recent study showed, for instance, that for the many adults with ASD who have impaired ability to recognize faces, a computerized training program improved facial-recognition skills.

Many recent advances have come from NIH's Autism Centers for Excellence program, which currently supports nine centers and networks across the country, with two additional awards expected in 2013. The research covers a variety of topics aligned with the IACC strategic plan, including nonverbal ASD, genetic and environmental risk factors, potential treatments, and determining why ASD is five times more common among boys.

We do not know the causes of ASD, but recent findings highlight the need to focus on both environment and genetics. NIH and CDC established large research networks to collect extensive data on environmental exposures and health outcomes, and conduct powerful analyses to identify factors that contribute to autism. Those networks explore possible causative factors in the environment before, during, and after pregnancy. Just this week, one of these networks published a study that suggests prenatal and early-life exposure to car emissions is associated with autism.

On the services front, HRSA has invested substantially in improving physical and behavioral health of people with ASD, practitioner training and service provision. In fiscal year 2012, Congress appropriated over $47 million to HRSA for autism and other developmental disorders. This supports 43 interdisciplinary training programs which provide services and training to 41 states, and include autism intervention projects for underserved populations. Federal agencies also use public-private partnerships to maximize our work, such as NIH’s National Database for Autism Research, which coordinates with other autism data repositories to enhance researchers’ access to data.

Programs like these, that involve collaboration with patients and families, bring together hundreds of researchers and clinicians with tens of thousands of people nationwide affected by ASD. The Administration on Intellectual and Developmental Disabilities, with help from several nonprofit organizations, supports the Autism Now project, offering a call center, web-based clearinghouse for resources and twice-weekly autism webinars. The NIH-supported Association for University Centers on Disabilities is improving early identification of autism through 25 Act Early ambassadors who train doctors in identifying, diagnosing, and managing ASD.

In conclusion, since the establishment of the IACC, a wide variety of research, service, and education expertise have come to bear on autism. Research is rapidly translating into practical tools for use in the clinic and the community. Federal agencies are coordinating efforts to identify best practices to support the lifelong health, education and employment needs of people on the spectrum.

Thank you for this opportunity to provide testimony on such an important topic. 
_____________________________________________________________________________________________________________________
(end transcript)

You can see the Strategic Plan he talks about here. It is structured as a list of seven questions for the IACC to use as guiding principles in deciding which research projects to fund. In each annual update to the Strategic Plan, they list what research has been done relating to each question, and what gaps remain in their knowledge.

These are the seven questions, with a little more explanation on the ones I think are vague or overbroad:
1) When Should I Be Concerned? - developing new diagnostic tools, especially for use at younger ages, and improving existing ones

2) How Can I Understand What Is Happening? - fundamental biology research, including topics like brain structure, brain activity, gene expression, animal models, the role of glial cells, and how the various genetic mutations that have been found to be associated with autism affect brain development and/or synapse formation

3) What Caused This to Happen and Can It Be Prevented? - looking for factors that predispose a person to develop autism: genes, environmental exposures, characteristics of the parents that aren't necessarily genetic (e.g., age, epigenetics)

4) Which Treatments and Interventions Will Help? - evaluating early behavioral interventions, various kinds of training or therapy for older children (e.g., cognitive behavior therapy**, social skills training, mindfulness training), and of course drugs (blargh!)

5) Where Can I Turn for Services? - looking at disparities in access to diagnostic services and therapies, and at quality-of-life issues like wandering, restraint and seclusion***, and caregiver stresses

6) What Does the Future Hold, Especially for Adults? - developing diagnostic tools for adults, determining prevalence of autism among adults, and looking at quality of life among autistic adults

7) What Other Infrastructure and Surveillance Needs Must Be Met? - trying to make it easier to do the kind of research they want, by making it easier for different research teams working on similar problems to pool data

Also, looking at the bibliography they have at the bottom of this page, it looks like the study he mentions dealing with "prenatal and early-life exposure to car emissions" is this one.

*I learned a new word. It means "not autistic."

**I am confused about that; I thought cognitive behavior therapy was what you used to try and overcome distressing, irrational or self-defeating thoughts, like you get when you have OCD or depression. I'm not sure how it could be useful to an autistic child, unless maybe it's supposed to help them overcome their need for rigid routines or deal with sensory overload better. I could see either or both of those working, maybe.

***I'm immensely happy that people in the government know that restraint and seclusion in schools is a problem! All this time I'd been thinking it was just activists and parents who knew that and were fighting against it.

Autism Hearing Transcript: Dennis Kucinich

Still image of Rep. Dennis Kucinich, saved from this video.

________________________________________________________________________________________________________________________

Thank you very much, Mr. Chairman.

Having had the opportunity to work with Mr. Burton on this for the last 10 years, I remember well, as I’m sure Mr. Burton does and some members of this Committee do, a time when a provision was snuck into a bill on homeland security that essentially shielded from lawsuits the manufacturers of thimerosal.

This was ten years ago.

And you know what? No one, for the members that have been here less than ten years, no one knew where that provision came from. It came out of nowhere and ended up getting buried in a conference report. Of course, it passed.

I mention this because it’s not as though we just discovered this matter, and while I salute the Chair for holding this hearing, we didn’t just discover this. My own theory is, while there are studies that are out there that are implicating environmental factors in autism, think about this for a minute: We know, as Mr. Burton laid out, the component of thimerosal, the component that stabilizes it, is mercury. We all know that mercury is more than a contaminant, it’s an environmental toxic. But it doesn’t only exist in liquid form! Mercury can also be inhaled.

And I would guess, and this is just my theory, that we’re not only talking about drug manufacturers; we might be talking about coal companies too. We have to be aware, there are reasons why this Congress and this government, has not effectively addressed this issue. When you had Lilly and others, Eli Lilly and others, contributing millions of dollars to trying to affect the outcome of elections, I will tell you: I salute this Chair for taking a shot, because, at the bottom of this, you have special interest groups who would resist any deeper research on it because it’s going to affect their bottom line. Meanwhile, you have children all over the country turning up with autism, so this is a new beginning, I salute the Chair for making it, but this goes way beyond thimerosal and start thinking about coal. Thank you.

_______________________________________________________________________________________________________________________

(end transcript)

If I were a swearer, I would be swearing right now.

Coal companies and pharmaceutical companies in league with each other in some dastardly plot to pump mercury into the veins of Amerca's youth, turning them all ... (gasp) ... autistic? The horror!

(Why they would want to do this is not really addressed, but whatever.)

I liked Dennis Kucinich before I heard this.

Autism Congressional Hearing Transcripts: Dan Burton

Still image of Rep. Dan Burton saved from this video

_________________________________________________________________________________________________________________________

Thank you, Mr. Chairman. 

Let me start off by saying, contrary to what has been stated in the media over the years, I am not against vaccination. I believe that vaccinations have a very important place in our society and have given us one of the best health regimens in the history of mankind. People live longer, and live better, and have less disease because we have vaccinations. 

What we have always opposed is putting toxic chemicals, or mineral --- metals --- in the vaccinations. 

Thimerosal contains mercury. When I was a boy, we used to have mercury in thermometers, and they said if you break that thermometer and the mercury gets on your hands, as years went by, that was toxic. 

In Indianapolis, we had a school where, in the chemical laboratory, in the health science room, they broke a vial that had some thimerosal in it, they evacuated the school, they burned the clothes of kids that came into contact with it, and the fire department came in with all kinds of equipment to make sure they weren’t exposed to it. 

Women who are pregnant, they say don’t eat fish that has mercury in it, and they caution them that there’s certain kinds of fish you don’t eat. You don’t drink water that has any mercury in it. There’s all kinds of reasons not to be exposed to mercury, and yet we continue to put it in vaccinations as a preservative. 

In 1929, they came up with thimerosal. They tested it on 29 people that had meningitis. They all died of meningitis, but they said the mercury in the vaccinations, or the thimerosal, didn’t cause any problems, it was not a contributing factor. So ever since 1929, it has never been completely tested, and they continue to put it in vaccinations! 

It wasn’t so bad when a child got one vaccination, or two or three. But when they get as many as 28 or 29 before they go into the first grade, it really hurts them. It causes a cumulative effect. The brain tissues do not chelate it, and it stays in there and causes severe, severe problems. 

Now I had, during the chairmanship which I had in this committee, when I was chair, for six years, we had about four years of hearings. We had people from all over the world: scientists from every part of the world, doctors from every part of the United States, who testified. And people from CDC and FDA said, “There’s no evidence that the thimerosal causes any neurological problems in people who are vaccinated.” And then we kept on, kept on, and finally we had some people from FDA and CDC who came and testified and said --- get this word --- there is no conclusive evidence that the mercury in the vaccinations causes neurological disorders. 

No conclusive evidence. 

Now, that word “conclusive” ought to stick in everybody’s mind, because what it means is there’s a possibility. Now my question has always been --- and I’m convinced that the mercury in vaccinations is a contributing factor to neurological diseases such as autism and Alzheimer’s, I’m convinced of it after all those years we had hearings --- but that word “conclusive,” “there’s no conclusive evidence,” creates a doubt. 

And my question to the presidents and CEOs of pharmaceutical companies has always been, if there’s any doubt, if there’s any doubt that the mercury in vaccinations can cause a neurological problem, then get it out. 

You shouldn’t put mercury in any form in the human body, especially in children in vaccinations. Or adults, in my opinion. 

When we get a vaccination for flu --- every year we get a flu vaccination --- we have thimerosal, fellas. I don’t know if you know that. They’re injecting a certain amount of mercury in your body. And over time, I believe it does have an adverse impact on the neurological system. Of adults. I think it’s a contributing factor to other diseases such as Alzheimer’s. 

Let me just say that the thing we need to do is always err on the side of safety. If the pharmaceutical industry were to go to single-shot vials, then you would eliminate the possibility of neurological problems because there wouldn’t be any mercury in them. 

The last thing I want to say real quickly --- I’ve got 20 seconds --- we passed a vaccine injury compensation fund to compensate those people who were injured by vaccinations. And it was supposed to be something that people could work with the government to get that money --- the pharmaceutical companies were putting money into that fund --- but it’s so hard for a person who’s had a damaged child or a damaged adult to get any money out of that fund, it’s unbelievable. We need to reevaluate that fund to make sure that people who are damaged by mercury in vaccinations need to have access to that so they can at least have some compensation to help with the rest of their lives. These people are going to live sixty, seventy years and they’re going to be a burden. Not only on the families, but on society itself.
__________________________________________________________________________________________________________________________
(end transcript)

You know you're not going to hear anything good when the speaker feels compelled to preface it with, "Now, I'm not against vaccines, but ..."

That's another five minutes of this hearing wasted on the completely fictitious vaccine hypothesis, and it really does not make me feel good about this hearing at all, or about Congress in general and their likelihood of doing anything helpful for autistic people, that this guy, with his thimerosal obsession, was apparently the driving force behind this committee's decision to look into autism. 

On a lighter note, this is the first I've heard anyone suggest that vaccines might be causing Alzheimer's disease, too! 

Autism Congressional Hearing Transcript: Opening Statement (2)

Right after Rep. Darrell Issa gave his opening statement, the Oversight Committee's ranking member, Rep. Elijah Cummings, gave a second opening statement.

Here's the video:

Transcript
_____________________________________________________________________________________________________________________

Thank you for that, Mr. Chairman, and I do thank you for holding today’s hearing. Before I get started I want to take special note, as you have already done, to our friend who is leaving, Mr. Burton. Over my seventeen years on this Committee, this has been an issue that he has constantly put forth and constantly made sure that we tried to address as best we could. Mr. Burton, I want to thank you for your vigilance and I want you to know that although you may be leaving the Congress, as the Chairman just said, we will continue the fight. And I know you will too.

Mr. Chairman, we have learned much about autism spectrum disorders over the past decade. Taxpayer-sponsored research has identified risk factors and evaluated therapies to assist with some symptoms. Physicians and parents now have a better understanding of the developmental signs and the symptoms, allowing for earlier detection, and educators have experience with new methods and approaches for assisting children with autism. 

Congress has also acted to help individuals with autism and their families in significant ways. In 2010 we passed the Affordable Care Act, which contained significant new protections. Insurers may no longer discriminate against people based on pre-existing conditions. Insurers may no longer impose lifetime caps on health care coverage. New plans must include screening for autism without additional costs to the parents. And young people diagnosed with autism spectrum disorders may remain on their parents’ health insurance plans until they are 26 years old. These are real and significant protections that will improve the lives of millions of American families. 

Even with this progress, there is still more to learn and there is still more to do. While autism affects all racial, socioeconomic and ethnic groups, some studies have shown that African-American, Hispanic and Asian children are less likely to receive an early diagnosis. These delayed diagnoses cause minority children to be further behind in development of language and motor skills. We must be vigilant in emphasizing earlier detection for all our children, as an early diagnosis can make a critical difference in the lifelong development of a child.

We must also continue to invest federal research dollars in new and evolving therapies to improve the lives of those with autism spectrum disorders. In my district we house the Kennedy Krieger Institute [link], an internationally recognized institution dedicated to improving the lives of individuals with developmental disorders. These institutions improve the quality of life, education, and continued development of those affected by autism spectrum disorders, and we must continue to support them. 

Today’s hearing is an opportunity to examine what has been done about autism spectrum disorders to date and what more needs to be done in the future. There are many experts, individuals and groups who can help us in this effort. I want to take this moment to thank all of you for being here. 

As the Chairman said, there are so many people who are interested in this issue, so many who wanted to speak, but I want to say to you what I said to Bob Wright of Autism Speaks a little earlier in the day: I thank you for caring about somebody other than your children and yourselves, because what you are doing here today is raising this issue so that other children, other than those, or other folks, other than those maybe in your own families, maybe your friends, will benefit in the future. 

In other words, you are touching the future, and you are making it possible for those who are going through the autism spectrum disorders to have a better future. And so I thank you all for what you are doing, and as I said to Bob Wright, you must stay the course. One of the things that I’ve learned from being in Congress these seventeen years is that, in order for these causes to move forward, you have to keep banging the drum, and you must keep banging it louder and louder and presenting your case so that, after it’s all over, there’s high, as my mother would say, motion, commotion, emotion, and no results. I want you to be successful in what you’re doing. Life is short, and so what we must do is try and use our energy so that we can get the best possible results. And I am so glad the Chairman said what he said, about sticking with this, addressing it, and we encourage all of you to work with us as we move forward, and with that, Mr. Chairman, I thank you.

_______________________________________________________________________________________________________________________

(end transcript)

Rep. Cummings raises some important points: he's absolutely right that there are inequities in who gets diagnosed with autism, and in who has access* to the kinds of therapies, services and educational accommodations that can make an autistic person's life so much easier. He is absolutely right that these inequities are starkest along racial, ethnic and class lines.

He's also right to point out the gains autistic people and their families made with the passage of the Affordable Care Act. 

Unlike Rep. Issa, Rep. Cummings seems to place the highest priority on identifying and providing services that improve actual, living autistic people's lives, as opposed to the more academic, theoretical research about what causes autism or what autism is at the molecular level.

I admit that I find the latter category of autism research more interesting, because I majored in biochemistry and I want to know about everything at the molecular level, but there's no question that the former category of research is more useful.

You can make the argument that scientific research shouldn't be funded solely based on its potential usefulness, or lack thereof, and I'd agree with you, but given that we're dealing with a limited amount of money that's supposed to cover pure research and applied research and actual provision of services, and that right now the bulk of the funding from both public and private sources goes to pure research, I'm okay with funneling some of that (public) money into the other two avenues. Private charities (looking at you, Autism Speaks!) would, of course, continue to be free to allocate grant funding however they see fit. 

*As this article from the Los Angeles Times makes clear, these disparities persist even when services are supposed to be paid for by the state. In 2010, the California Department of Developmental Services spent $11,723 per child on white autistic children ages 3 to 6; on services for Asian children, they spent only slightly less: $11,063 per child. Black and Hispanic children fared the worst, with the state spending only $6,593 per child (just a little over half what they gave the white families!) on the former and $7,634 per child on the latter.

Autism Congressional Hearing Transcript: Opening Statement (1)

I'm slowly making my way through watching the video of the Nov. 29 congressional hearing, transcribing as I go.


(I'm not just doing it to have a complete, public, textual record; I also find having something I can read helps my own understanding, too.)

I'm going to post a bunch of separate, shorter transcripts here, one for each separate speaker.

Here's Rep. Darrell Issa*, Chairman of the House Oversight and Government Reform Committee, calling the meeting to order and making his opening statement**:
____________________________________________________________

(gavel pounding)

The Committee on Oversight and Government Reform will come to order. This hearing on “1 in 88 Children: A Federal Response to Rising Rates [of autism]” will come to order.

The Oversight Committee exists to secure two fundamental principles: First, Americans have a right to know that the money Washington takes from them is well spent, and second, Americans deserve an efficient, effective government that works for them. Our duty on the Oversight and Government Reform Committee is to protect these rights. Our solemn obligation is to hold government accountable to taxpayers, because taxpayers have a right to know what they get from their government. We will work tirelessly in partnership with citizen watchdogs to deliver the facts to the American people and bring genuine reform to the federal bureaucracy. This is our mission, and I might say today, in many cases we are dealing with people who, because of this affliction, may never pay taxes, but in fact their families and others pay for their entire life. 

Congress spends a lot of time discussing and debating issues, and in determining by our philosophical beliefs what the role of government should be. As we have seen in these debates surrounding TARP, stimulus, healthcare reform, these kinds of issues oft come down to where you fall on an ideological spectrum.

Today is no such thing. We’re having a hearing focused on something that spans from the ideological left to the ideological right. We’re drawing attention to something that has no political affiliation, no partisan allegiance, and sometimes --- and we believe, today --- not nearly enough focus on something that does not shorten life but dramatically --- or even slightly, but usually more than slightly --- reduces the quality of life, both for the individual and for their families.

I’m a father. As far as I know, I’m one of the fortunate ones. I’m not the 1 in 88. But right now, if the numbers are accurate, and if they continue to grow from the now 1 in 88 who are in some way ASD-affected, we in fact have an epidemic. It could be that some of the 1 in 150 at the start of this century was too low, that in fact people were simply not diagnosed. But few people believe that, in fact, there aren’t factors in our society and our behavior, in the air we breathe, the water we consume, or others, that are affecting how many people will be afflicted. 

We’re going to hear from a distinguished panel first, of people who do this for a living, try to get to the causes, prevention --- I won’t say “cure” today --- but at least the treatment, the understanding, and perhaps, in some cases, truly something that would mitigate their suffering. I know they’re frustrated. Congress, although we put nearly a quarter of a billion dollars a year directly into research, has not put the kind of dollars, perhaps, that could bring specific outcomes sooner.

On our second panel, a number of individuals who will say that in fact, one of the problems is we’re looking on one side of the equation and not nearly enough on what to do for the victims of various forms of autism.

The fact is, they’re all right. There is not enough money being placed into the various possible causes of autism. There is not enough study. Our government does not collect statistics as well as perhaps someday soon we will, so that in fact we can find out what the true number is, cross-check every aspect of how that number, which is a human being, came to be afflicted. 

The truth is we have a lot to do. I will not claim that I have come here timely. This is the last two days of my first two years as chairman, and this is our first hearing. But what I will promise you here today is that we will stay involved in this issue. We will stay involved through staff and through, if appropriate, additional hearings. I also would say to our first distinguished panel that one of the most important priorities I place today is in fact that we work with you and help you in this process, that we be a conduit to the rest of Congress on this important issue. In a few moments I’ll be swearing in --- I’m sorry, I’ll be recognizing, by unanimous consent, a number of members who would not ordinarily be here at a hearing, because they are involved in this issue but serve on other committees. 

Additionally, I want to apologize to all of those people who, rightfully so, would be well (?) to be heard here today. I could’ve had a second panel of at least twenty witnesses from organizations and affected individuals. We had the difficult job of selecting just six, and as the ranking member will undoubtedly agree, six is already a fairly large single panel. 

That’s one of the reasons I pledge to you today that any organization or individual that in the next seven days provides to us, as required by our rules, in electronic format --- or, if you give it to us in paper we will try to scan it --- we will include your statements and your information in the record. 

We’ll hold the record open so that the many who could not be heard live in testimony will in fact be at least in the record. I want to particularly recognize Brian Hooker [link] with Focus Autism [link] in the American Academy of Children --- well, actually it’s a long, long title --- sorry --- who in fact has been one of the people who has championed for today’s hearing, and a number of others. They’ve been essential in my getting a better understanding. 

I’d also like to thank --- and we will be recognizing two witnesses, er, two members, on each side: the former Chairman of the [mumble] Committee[***], Dan Burton, who years ago began a process of focusing on some aspects of this terrible disease. We in fact don’t know enough; our goal is to know more, and today is but a down payment on that. With that, I’d like to thank the ranking member for his assistance in putting together today’s hearing and recognize him for his opening statement.

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(end transcript)

I won't be offering a whole lot of commentary right now, but I would like to make note of the two people to be name-checked in this short speech: Rep. Burton, whose testimony I will put up shortly and which really speaks for itself, and this Brian Hooker, who is affiliated with some group I'd never heard of called Focus Autism. It turns out to be a crank group dedicated to the notion that vaccines are "an important contributing factor" to autism in children.

So that's not good. We're just in the opening statement, and already the vaccine hypothesis --- which ought to have no place at all in a discussion of how best to spend federal money on autism research, therapies and services --- has been moved front and center.

*I'd post the video, too, but I cannot find a separate clip of just this speech. I can find one for the second opening statement, by Rep. Elijah Cummings, but I can't find one for Rep. Issa's statement. If you can, and you give me a link in comments, I will gladly embed it.

**I'm not going to blockquote my transcripts because I find that, in this blog template at least, blockquoting makes things a lot less readable! These transcripts are going to be kinda long, so I really don't want to sacrifice readability. I will set them apart some other way, like drawing lines above and below the transcribed speech.

***I didn't completely catch this, but looking at Rep. Burton's webpage, he has chaired both the Oversight Committee and another committee, a subcommittee of the House Foreign Affairs Committee. Rep. Issa is probably referring to his past chairmanship of the Oversight Committee. 

Cognitive Sex Differences within Autism - Part I

One hypothesis about why there are so many more boys and men on the autism spectrum than there are girls and women is that boys and men, for whatever reason, are more likely to get diagnoses of autism spectrum conditions.

One of the reasons commonly put forward by people (including me) making this argument is that the diagnostic criteria reflect a picture of autism derived disproportionately from autistic boys and men, and autistic girls and women differ sufficiently from their male counterparts in their abilities, behavior, developmental histories etc. to ensure that they will often fail to meet those criteria.

While browsing PLOS ONE I found a couple of recent-ish articles looking into what those differences might be.

The more recent study, just published this week, involved giving four largish groups of participants (one autistic and one neurotypical group within each sex, with each group having thirty-two people in it) a battery of tests designed to measure five different skills: theory of mind, emotion recognition, executive functioning, perceptual attention to detail, and manual dexterity.

What are all those things and how would you go about measuring them? Well, the first of those skills, theory of mind --- also called cognitive empathy or mind-reading --- is one I've written a lot about on this blog. I've also written a lot (usually in the same posts) about the tool psychologists seem to use most of the time to assess this skill in adults: the Reading the Mind in the Eyes Test. I don't think I need to say anything more about either the skill or the test; the test is relatively straightforward, a series of black-and-white photographs of faces, cropped to show only the eyes, paired with a choice of four emotion words. You are supposed to guess which of the words best describes what the person whose eyes are in the photograph is feeling.  

I listed theory of mind and emotion recognition separately, even though the Reading the Mind in the Eyes Test obviously involves both. There's another test the researchers used, one that they describe as a test of emotion recognition, that reads to me like it's almost the same thing as the Reading the Mind in the Eyes Test, only it uses pictures of entire faces instead of just eyes. It's called the Karolinska Directed Emotional Faces Test.

To test the participants' executive-functioning abilities, the researchers used something called the Go/No Go Task. This involves pressing buttons on a computer keyboard in response to certain cues appearing on the computer screen; in this study the cues were arrows pointing either to the right or to the left. (Right and left were each associated with a different target key: P for right and Q for left. So the people taking the test were literally minding their P's and Q's!) The test also includes extraneous cues that test takers are not supposed to respond to. So what's being tested is not just one's ability to hit a key when a light goes on; it's also one's ability to restrain one's key-hitting impulse when something close to, but not exactly like, the target stimulus appears.

There were some other things the researchers included under the umbrella of executive functioning: working memory (tested by having the participants repeat nonsense syllables), word generativity (ability to come up with lots of words beginning with the same letter in a short amount of time) and motor planning, which they tested using the Assembly subtest of the Purdue Pegboard Test. (This involves putting simple objects together in a set order using whatever hand they tell you to use.) This obviously assesses manual dexterity as well as the ability to figure out what you need to do in what order (i.e., motor planning), although they also had the participants complete the other parts of the Purdue Pegboard Test to test manual dexterity alone.

Finally, the test they used to measure attention to detail was the Embedded Figures Test, which I've also blogged about before, noting that autistic people have shown a particular aptitude for this task.

The results are mostly unsurprising: the autistic study participants did worse at both of the facial-expression-interpreting tasks, and also at pressing the right key in the Go/No Go task. On the two language-related memory tasks, they performed no differently than the control group. (This is not surprising given that all of the participants are described as "high-functioning," having average-to-above-average IQs (about 115, plus or minus about 15 points) with verbal IQ greater than or equal to performance IQ).

The emotion-recognition data get more interesting when you look more closely at them, though; apparently the autistic study participants had more trouble identifying some emotions than others. Fear was the one it took them longest to recognize; it was also the hardest one for the non-autistic people to identify, too, but the gap between the two groups' average reaction times is the biggest in this category. It took the autistic study participants, on average, somewhere between four and five seconds (closer to five) to identify the fearful faces. For the non-autistic participants, it took maybe three and a half seconds. Happy faces were the easiest for both groups to identify, and the difference between groups was only half a second compared to the 1-1.5 second gap in their response times to fearful faces. All the other reaction times are clustered within a relatively narrow range for both groups: between 2.5 and 3 seconds for the autistic group, and between 2 and 2.5 for the control group. So, even though fear was tricky for everyone, it proved especially challenging for the autistic people. The study authors guess that maybe this is because autistic people studiously avoid looking at other people's eyes, and the eyes are apparently the most important cue that someone looks frightened.

There were also a couple of novel findings, too, though. For instance, on the Assembly component of the Purdue Pegboard Test, it was only the autistic men who had any problems relative to their same-sex control group. The autistic women were, you might say, indistinguishable from their peers. 

But the most surprising thing, for me, was their results on the Embedded Figures Test. This is a pretty solidly defined Thing Autistic People Are Really Good At, yet in this study, where there was a difference between autistic and non-autistic groups, it was the non-autistic people who found the hidden shape faster. (That was also true for the men and not for the women).

In general, the authors describe a pattern of male and female autistics having more or less the same degree of impairment in what they call the "hallmark" of autism spectrum conditions, which is inability to pick up on another person's nonverbal cues to their mental or emotional states*, but with the autistic men, and not women, also having additional impairments in other domains.

The authors point out that this contradicts what had been conventional wisdom about cognitive sex differences within autism, which held that autistic women were usually more severely disabled than autistic men**.

I haven't forgotten about the other, earlier study; I'm just going to give it its own post so as not to make this one overlong.


Lai, M., Lombardo, M., Ruigrok, A., Chakrabarti, B., Wheelwright, S., Auyeung, B., Allison, C., , ., & Baron-Cohen, S. (2012). Cognition in Males and Females with Autism: Similarities and Differences PLoS ONE, 7 (10) DOI: 10.1371/journal.pone.0047198


*This elusive quality can be called theory of mind, mentalizing, "mind-reading" or empathizing. It may also involve more than one cognitive, emotional or perceptual ability, but this study doesn't really go into that.

**To be REALLY picky, this study doesn't address the issue of intellectual disability, as no one who participated in it would meet the criteria for having ID. This shows that autistic men of slightly above average IQ are more likely to have problems with motor planning and figure disembedding.

Signal Transduction in Autism

EXECUTIVE SUMMARY: A study published this past summer analyzed tissue extracts from 20 donated brains, half (10) of which came from autistic donors. Half (5) of those people had histories of regression --- that is, they started out developing normally, speaking and everything, but then they lost some of the skills they had gained.

The brain tissue extracts were analyzed using a technique I describe in the main body of this post, that tests for the presence of a certain enzyme (protein kinase A, here) by giving it an opportunity to react with a sort of dummy peptide that can't really do anything except sit there and let the enzyme (and only that enzyme) act on it, and then introducing antibodies that will "tag" the altered peptides with an enzyme that will change a solution's color under certain conditions. This allowed the researchers to measure the relative activity of the enzyme across subjects or across brain regions; a similar measure, but using antibodies to the enzyme itself, rather than to its product, was used to measure the amount of enzyme present in each extract.

Using this method, the researchers found differences in protein kinase A activity and expression only in the frontal lobes, and only between the autism-with-regression subgroup of the autism group and both the controls and the rest of the autism group.

Protein kinase A is involved in intracellular signaling; it's one of the signal-boosting enzymes that helps the cell react quickly to changes in its environment. It modifies other proteins, affecting their activity. Some of its targets are proteins involved in neurotransmission (signaling between brain and nerve cells) and long-term potentiation (reinforcing those connections between neurons that are frequently used). It's this latter process that the study authors think may be disrupted in regressive autism.
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SFARI News posted some time ago on a study published on August 31 in PLoS ONE, comparing the amount of a certain enzyme present in tissue extracts from different regions of the brain between deceased subjects with and without autism who had donated their brains to the National Institute of Child Heath and Development Brain and Tissue Bank for Developmental Disorders.

The enzyme in question is protein kinase A, which plays a hugely important role in the cell, helping mediate a process called signal transduction, through which the cell is able to react to its changing environment, or to signals from other cells. In signal transduction, a molecule from outside the cell (usually a hormone) attaches to a receptor outside the cell and causes the receptor to change shape, thus altering the part of the receptor that's inside the cell and triggering a chain reaction of changes in enzymatic activity within the cell.

Protein kinase A participates in one particular signaling pathway: the one involving a class of receptors called G proteins, which are actually clusters of several smaller proteins that split apart whenever something attaches to its extracellular binding site. The now-mobile subunits then go on to do other things in the cell, most importantly to activate* an enzyme responsible for turning adenosine monophosphate (AMP) into cyclic AMP, which works as a signaling molecule inside the cell.

(Here is a cartoon from Nature Publishing Group's Scitable website illustrating that splitting apart of the G protein after a signaling molecule binds to its associated receptor; I adapted the image somewhat to make it less busy)

(Cyclic AMP)

Cyclic AMP is part of a class of molecules called "second messengers," which are small molecules that can bind to, and either activate or inhibit, a wide range of enzymes. Also, the enzymes responsible for making these molecules are regulated by receptors on the surface of the cell, so that when a signaling molecule binds to the receptor, the enzyme gets switched on (in the case of adenylyl cyclase, which is what turns regular AMP into cAMP) and starts churning out second-messenger molecules, which then go on to tinker with their target enzymes. In this way --- by coupling receptor binding with synthesis of these second-messenger molecules --- the cell can amplify the signal it receives, allowing it to react more quickly to changes in its environment.(Cartoon showing signal transduction using cyclic AMP as a second messenger, taken from this community college's Anatomy & Physiology II webpage. You can see how a hormone binding to its receptor frees up the receptor-coupled G protein to exchange its GDP for GTP and then go off and --- depending on the hormone --- either activate or inhibit adenylyl cyclase, which either starts or stops churning out cAMP, which goes on to do lots of different things, like activating enzymes, telling the cell to secrete various things, opening ion channels, etc. The only thing I don't like about this cartoon is that it only shows one cAMP molecule as the output of all the running around happening in the cell membrane, when really cAMP is being continuously produced by every active adenylyl cyclase. So, what that looks like, relative to the amount of hormone coming to the cell from outside, is more like this other cartoon, down below) (See, look at the arrows coming out of that yellowish triangle. One arrow splits into five, then 25, then more than you can clearly see. This table from the Memorial University of Newfoundland's cell biology webpage lists the number of molecules affected by each step in a cAMP-dependent signaling pathway, from the one molecule changed when a single molecule of hormone binds to its receptor, to the 10,000 molecules changed by the time adenylyl cyclase starts producing cAMP).

Anyway, protein kinase A is one of the enzymes activated by cAMP binding to it, and it is also mostly a regulatory enzyme --- that is, it activates or deactivates other enzymes. Protein kinase A does that by transferring a phosphate group from ATP (a small molecule made up of a sugar, a nucleotide base and three phosphate groups) to certain amino acid residues on any of its target proteins.

What kinds of proteins does protein kinase A regulate? Well, that depends on what kind of cell all this is taking place in. Every cell in the body contains a complete human genome; the differences between cell types are differences in which genes are expressed --- i.e., which proteins are present. So each cell type is going to have a different mix of proteins whose activity needs to be coordinated.

Some of its targets are proteins expressed in almost every cell type: these include a histone, one of a large family of proteins whose function is to condense chromosomal DNA that is not actively being transcribed or replicated; transcription factors (most notably, from the CREB family); a metabolic enzyme involved in storing energy for later use; ion channels; and other kinases (enzymes that alter the activity of other proteins by transferring phosphate groups onto them from ATP).

Although protein kinase A performs specialized functions in just about every cell type, I'm only going to talk about what it does in the brain, since that is the cell type relevant to this post. There, in addition to the stuff mentioned above, protein kinase A 1) helps regulate the synthesis of a common precursor to a variety of neurotransmitters, 2) helps form synapses by guiding the specialized proteins that allow the membranous sacs that deliver neurotransmitters from one neuron to the next toward the tip of the developing axon, and 3) with another protein kinase, regulates the ion-channel activity of the NMDA receptor, which is involved in strengthening the more frequently-used conntections between neurons. There may be more, but this is what I've been able to find.

For all that background information, the experiment I'm going to describe is actually pretty simple: like I said above, the researchers took tissue samples from five different regions of donated brains from autistic and non-autistic subjects, homogenized them (basically, ran them through a blender) and tested each sample for protein kinase A activity. The test they used is called the ELISA (for Enzyme-Linked ImmunoSorbent Assay --- see why people would rather call it Eliza?), which is a plastic plate covered with small circular wells (0.7 cm across by 1 cm deep) with, in this case, short peptides containing either serine or threonine (the two amino acids to which protein kinase A can attach a phosphate group), anchored to the bottom. (ELISA is most often used to test for the presence of antibodies --- that's how HIV testing is done --- so for that, the thing stuck to the bottom of the well would be the antigen to which whatever antibody you're testing for responds). They added their brain tissue extracts one by one to each well, along with a small amount of ATP dissolved in water (for the protein kinase to "borrow" phosphate groups from), then waited an hour and a half before emptying out the wells (the substrates, which were permanently affixed to the bottoms of the wells, would stay, along with, presumably, any phosphate groups that had been attached to them during the previous 90 minutes) and introducing an antibody specifically designed to bond with the phosphorylated form of the substrate peptide. Next, they washed the wells out thoroughly (to weed out everything that was not chemically bonded to the fixed substrates) and added a second antibody, chosen for its ability to bind to the first antibody, and which was also attached to an enzyme known for producing dramatic color changes as a side effect of its interaction with certain organic molecules. (A solution containing the molecule in question was also added, so that the wells in which the greatest proportion of the well-bottom peptides had been phosphorylated, and thus had the whole antibody rigmarole sticking off of them, would have the deepest color. There is even a way to measure color --- a device that can measure the degree to which something absorbs light at a given wavelength --- so that you don't have to rely on just your eyes to tell you whether this well or that one is a darker shade of yellow).

They used a somewhat similar technique, called Western blotting, to compare the amount of active protein kinase A between groups for each brain region. They injected their tissue samples from each of the different brain regions into a polyacrylamide gel, and ran an electric current through the gel to get the proteins to move through it. Since the gel resists having things move through it, different size proteins will travel through it at different rates. After a while, most of the proteins will separate themselves into bands along the gel, by size. Once this happened, the researchers transferred the proteins to a nitrocellulose membrane, and added antibodies specific to the catalytic (active) subunit of protein kinase A. Just like with the ELISA, there was also a secondary antibody coupled to a color-producing enzyme.

One thing that's a bit unusual in this study is that the researchers divided their brains from autistic donors into two groups, based on the developmental history of the donors. They had a "regressive autism" group, whose members started out developing typically but then lost some of the skills they'd acquired: speech was the most common skill that was lost, but some of the donors in this category also lost social skills and interest in social interaction. There was also a "non-regressive autism" group, whose members were delayed in language and social development from birth.

Subtyping autism is an increasingly popular thing for researchers to do, since "autism" is such a broad, flexible category that encompasses people with a very wide range of developmental and medical histories. It makes sense that researchers would want to subdivide this large, diverse group further to make sure they're comparing apples to apples when they look at different studies of "the autistic brain" or "the autistic immune system" or whatever.

The thing that's strange about subtyping in this study is that the number of brains being looked at is already so small. Each big group (autism, both regressive and not, and controls) had samples from ten people in it, and the researchers couldn't always get a sample from every point of interest on every brain, so sometimes the number of samples in a given category (brain region + donor neurotype) was less than ten; the smallest n for any category was 7. But that means that, with subtyping, the biggest n possible for either autism subgroup is 5, which looks more like a case study than a comparison across populations. But then, histological studies of donated brains always have to deal with smaller sample sizes, since there isn't exactly a superabundance of donated brains, and I guess if you have big differences among your subjects, you might as well sort them into subcategories, even if your subcategories are tiny.

At some point in this post I should probably mention the results of this study I've gone to such lengths to describe. The authors only found differences in protein kinase A activity in one region --- the frontal cortex --- and this difference was largest between one subgroup of the autistic group --- the autism-with-regression subgroup --- and both the non-regressive autism subgroup and the control group. The regressive autism subgroup had maybe a little less than half the PKA activity of the controls and the non-regressive autism subgroup (those two groups did not differ). Taken as a whole, the autism group had about 35% less PKA activity in the frontal-lobe samples than the control group.

The results were similar for the Western blot; the only region that showed any differences in PKA expression was the frontal lobe, and again, it was only the regressive autism subgroup that differed. Tissue extracts from that group had siginificantly less PKA in them than extracts from either the control group or the non-regressive autism subgroup; the unified autism group did not differ from the control group.

The researchers also looked for a correlation between their measure of PKA activity and various possible confounding factors, like how long each donor had been dead, the age of the donors when they died, whether they had any history of seizures, and what medications they were taking; they didn't find any relationship between any of these things and either outcome variable. Their measure of PKA expression also involved measuring how much of another protein was present in each tissue extract, both because that protein is about the same size as PKA, and thus cannot be separated from it using electrophoresis, and also to have a protein whose expression is not expected to vary across groups with which to compare relative amounts of the protein that is expected to vary.

Here is a picture of the Western blot showing both PKA (top row) and the other protein, a structural protein called beta-actin (bottom row), from all tissue samples:(Figure 2A, in Ji et al., 2011 - samples from autistic donors are on the left, and subdivided into non-regressive and regressive subtypes. Controls are on the right. You can see that, in the bottom row, the blobs are all approximately the same size, indicating expression of beta-actin is more or less the same across groups. You can also see that the blobs in the top row are a lot thinner - one space has nothing at all in it - in the regressive autism group than they are in either the non-regressive autism group or the control group. It looks like PKA expression is a bit more variable within the control group than beta-actin is, though.)

So, for a couple of reasons --- the extreme smallness of sample size, and also the degree of variation in PKA expression within the control group --- I am a bit skeptical as to whether this finding will hold up. It definitely needs to be tested a few more times, with bigger donor pools.

Leaving that aside, though --- what are the implications of this finding, should it be substantiated? The study authors refer to earlier literature that describes a role for cAMP signaling pathways in both brain development (obviously germane to a study about developmental disability) and long-term memory formation and learning (relevant to the question of how people can lose skills they once had). But it's not clear yet exactly what that role is; if you search for "protein kinase a brain" on BioNOT (a database of negative experimental results), you find an article claiming to find no difference in PKA activity between tissue samples taken from donors with Alzheimer's disease and those taken from healthy donors. So that complicates things a bit, as Alzheimer's is, even more than regressive autism, characterized by a loss of learned skills and memories.

Sources:
Ji, L., Chauhan, V., Flory, M., & Chauhan, A. (2011). Brain Region–Specific Decrease in the Activity and Expression of Protein Kinase A in the Frontal Cortex of Regressive Autism PLoS ONE, 6 (8) DOI: 10.1371/journal.pone.0023751

*What does it mean to activate an enzyme? Well, an enzyme is a kind of protein, and like all proteins, it has a range of three-dimensional configurations** it can assume, and only some of these possible shapes leave the binding site for the molecule the enzyme acts upon freely accessible. So when an enzyme is in one of those arrangements, and molecules of its particular substrate can just drift along and come into contact with the binding site(s), that's when the enzyme can be considered active. Binding of a phosphate group or some other small molecule at a different binding site will usually trigger a shape change; that is how enzymes can be activated or deactivated by other enzymes.

**I have this idea that proteins are called proteins just because of this shape-changing ability they have, in which they resemble the mythical Proteus.