New Series: Autism-Related Gene Spotlight

With this entry, I'm starting a new series of posts: the Autism-Related Gene Spotlight series.

Each post will talk about a different gene that's been identified as possibly having something to do with autism, and will follow more or less the same format.

I ask, and answer, five questions about the gene I'm spotlighting:
1) Where is it? - which chromosome, approximately where on the chromosome, how much space it takes up
2) What does it do? - which should probably read "What does the protein it encodes do," since genes typically don't do things themselves, but rather direct the synthesis of proteins which do things, but whatever.
3) What mutant versions of this gene have been discovered?
4) How do the mutations referred to in 3) affect the expression, structure and function of the gene's protein product?
and 5) How common are each of the mutations identified in 3)?

I will also link to whatever database entries I can find for the gene, so that readers with the training to decipher this stuff on their own can go have a look for themselves.

I'm excited about this series because this is the kind of stuff I studied in college, and I really love feeling like I understand things --- physical processes --- at the smallest level of detail. It's like when you're drawing a picture of something from life --- a tree or a flower, say --- and you've got the overall shape of it sketched out but you have to move in closer to see the details, to know what sort of texture to give the surfaces, and you see another layer of structure, something you couldn't see from farther away but which makes what you had perceived as texture make sense now that you see more of what it's doing.

I'll try to keep the jargon to a minimum, and provide explanations of whatever comes up that needs explaining (in the last post, I had to greatly expand my "What does [SLC4A10] do?" section to explain some things about acid-base chemistry, active transport and the special role ions play in "excitable" cells like neurons), but let me know if my attempts at making this stuff accessible don't go far enough.

Autism-Related Gene Spotlight: SLC4A10

EXECUTIVE SUMMARY: SLC4A10 is a member of a large family of genes that encode proteins for transporting ions (charged particles) across cell membranes. Within that (super)family, SLC4A10 belongs to a family of transporter proteins specializing in bicarbonate (HCO₃^-) ion transport, which is important for maintaining a constant pH within the cell --- i.e., preventing it from becoming too acidic or basic for the cell's biological machinery to function. SLC4A10 encodes a version of this transporter protein specific to certain cells of the central nervous system, and mutations disrupting this gene have been found in two instances: first, in a set of autistic twins who participated in a genomic study, and second, in a girl with epilepsy and intellectual disability. Disruption of this gene is thought to make brain cells more excitable, which can lead to seizures (which is probably why the girl in the second case study has them).
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Where is it?
Its "cytogenetic band" is given as 2q23-q24 (or, alternatively, 2q24.2), which means that it's on the long arm ("q" as opposed to "p") of chromosome 2, somewhere in the middle.

Here's a map of chromosome 2, with a red line marking where SLC4A10 is:
This gene spans 360,942 base pairs (which is fairly large, but not enormous; there's a lot of variability in gene size, with the smallest ones only a few hundred bases long and the largest spanning several million bases --- see this e-textbook chapter for details), covering the distance between bases 162,480,845 and 162,841,786 (measuring from the centromere to the end of the chromosome).


What does it do?
The name SLC4A10 refers to its membership in a family of genes encoding similar proteins: solute carrier family (SLC) 4, which is a group of ten genes whose protein products transport bicarbonate ions (HCO₃^-) across cell membranes.

Bicarbonate ion (and its protonated form, carbonic acid, which is readily synthesized from carbon dioxide and hydrogen ions) plays a central role in regulating pH, both within cells and outside of them, as in blood. pH is a measure of acidity, expressed as the (negative) logarithm of the concentration of hydrogen ions (H⁺) in the fluid being tested. Pure water has a "neutral" pH of 7 (meaning that, of the H₂O molecules making up liquid water, an approximately equal number exist in their dissociated forms of H⁺ and ^-OH at any given time --- if an acidic or basic compound is added, it will either add or remove H+ to the solution, and thus move the pH down or up); the water inside human bodies is slightly basic and has a pH of around 7.4 ("physiological pH"). Bicarbonate/carbon dioxide can act as a "buffer" between an acidic or basic substance and the physiological environment: depending on what form it's in, it can either donate (H₂CO₃ --> HCO₃^- --> CO₃^2-) or receive (CO₃^2- --> HCO₃^- --> H₂CO₃) hydrogen ions and keep the surrounding fluid from having to disrupt its acid-base equilibrium.

Because bicarbonate cannot diffuse across cell membranes by itself, it needs to be transported into cells by ion-exchanging membrane proteins whenever it is needed. The protein produced by SLC4A10 ferries bicarbonate ion and sodium ion into the cell while expelling a chloride ion from the cell. Two bicarbonate ions are imported for every sodium ion, which keeps the net gain/loss of electrical charge at zero.

This particular gene is primarily expressed in the central nervous system (i.e., the brain and spinal cord), though related genes encode similar bicarbonate-transporting proteins for other tissue types. In mice, SLC4A10 is expressed in some types of brain tissue but not in others: it was specific to gray matter (neurons, but not glial cells), and was not expressed in white matter; and it was also specific to certain regions of the brain: the olfactory bulb, cortex, hippocampus and cerebellum.

In neurons, ion concentrations inside and outside the cell play a role in whether a given neuron will "fire" --- undergo dramatic and rapid change in the electrical potential difference across its membrane, which triggers electrical and/or chemical signaling of adjacent neurons --- so ion transporters in neurons also help mediate neurotransmission.

What mutant versions of this gene have been discovered?
In the article I mentioned in my last post --- Sebat et al., 2007 (full text here) --- the authors report finding a spontaneous deletion of the first coding region of SLC4A10 in a pair of twin girls with autism.

There is also a recent report of a girl with epilepsy and intellectual disability having part of this gene --- a 48,000-base stretch of the 2q24 region falling between coding regions 2 and 3 of SLC4A10 --- moved to another chromosome: chromosome 13.


How do these mutations affect protein function?
Mice bred with the entire SLC4A10 gene missing were found to have much smaller brain ventricles than normal mice, and also had altered choroid plexus tissue. (The choroid plexus is where cerebrospinal fluid is made and waste is filtered out of it; active-transport proteins are especially dense there). Researchers found it harder to induce seizures in these mice as compared with normal mice using the proconvulsant (i.e., seizure-inducing) drugs pentylenetetrazole and pilocarpine.

Neither of the mutations observed in humans involves knocking out the entire gene; one involves deleting the first (of twenty-six) coding region, and the other involves switching a fairly long non-coding region with a sequence from another chromosome. Nothing is deleted in that case, but the insertion of something random into the middle of a gene might derail the process of assembling a working protein using that gene's (garbled) instructions. So both mutations impair the production of this protein to an unknown degree --- the protein probably isn't completely absent, but it might be present in reduced quantities or truncated, less-than-fully-functional form.
How common are they?
Very rare. Mutations in this gene are probably only a factor for a tiny, tiny minority of autistic people, whom I would suspect also have seizures.

Database entries for this gene: AutDB, Entrez Gene, Ensembl, Genatlas, GeneCards, SFARI Gene
Sources:
Damkier, H., Aalkjaer, C., & Praetorius, J. (2010). Na+-dependent HCOFormula Import by the slc4a10 Gene Product Involves Cl- Export Journal of Biological Chemistry, 285 (35), 26998-27007 DOI: 10.1074/jbc.M110.108712

Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, & Bowcock A (2008). Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. Archives of neurology, 65 (4), 550-553 PMID: 18413482

Jacobs, S., Ruusuvuori, E., Sipila, S., Haapanen, A., Damkier, H., Kurth, I., Hentschke, M., Schweizer, M., Rudhard, Y., Laatikainen, L., Tyynela, J., Praetorius, J., Voipio, J., & Hubner, C. (2008). Mice with targeted Slc4a10 gene disruption have small brain ventricles and show reduced neuronal excitability Proceedings of the National Academy of Sciences, 105 (1), 311-316 DOI: 10.1073/pnas.0705487105

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., Leotta, A., Pai, D., Zhang, R., Lee, Y., Hicks, J., Spence, S., Lee, A., Puura, K., Lehtimaki, T., Ledbetter, D., Gregersen, P., Bregman, J., Sutcliffe, J., Jobanputra, V., Chung, W., Warburton, D., King, M., Skuse, D., Geschwind, D., Gilliam, T., Ye, K., & Wigler, M. (2007). Strong Association of De Novo Copy Number Mutations with Autism Science, 316 (5823), 445-449 DOI: 10.1126/science.1138659

Autism and Genetics: It's Complicated

EXECUTIVE SUMMARY: Evidence from a 2007 genomic study of 264 families (118 with one autistic member, 47 with multiple autistic members, and 99 with no autistic members) suggests that all autistic people have a higher rate of spontaneous --- i.e., not inherited --- mutation in their genomes than non-autistic people, and autistic people without autistic relatives have the highest rate of such mutations.
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Though most autism researchers believe autism is at least partly determined by genetics --- it co-occurs most of the time in identical twins, and a higher-than-baseline proportion of the time in fraternal twins and non-twin siblings --- they haven't really been able to find genetic variations that account for more than a small minority of cases of autism.

Here's an illustration of that paucity of known genetic explanations for autism:

Graph from Arthur L. Beaudet's editorial in the May 2007 issue of Nature Medicine. The darkest-colored regions (both pink and blue) represent the proportion of instances of autism that are totally unexplained; the lightest-colored regions represent instances of autism known to be caused by a particular genetic mutation; regions between the lightest and darkest regions represent those instances of autism where there may not be any definitive genetic cause, but a genetic cause is considered likely

It's not that candidate genes aren't showing up; it's just that each mutation found that seems like it might underlie some aspect of autism is only present in a tiny, tiny fraction of all autistic people. Variations in a whole lot of different genes have been implicated in some cases of autism some of the time, but a genetic marker common to all (or even most) autistic people that's not also found in general population remains elusive.

This article in Science (full text here) from a few years ago adds more ambiguity to the whole mess: its authors (all thirty-two of them!) found a certain type of large-scale mutation called a copy-number variation (i.e., a given region of the genome is either missing, or repeated one or more times in a row) occurring about ten times as frequently in the autistic population whose DNA they sampled (n = 118) as in the non-autistic controls (n = 196), and a little more than three times as frequently as they occur in autistic people with another autistic person in their immediate family (n = 77).

They were able to see the copy-number variations using a type of comparative genomic hybridization called representational oligonucleotide microarray analysis (ROMA). (See this full-text article in Genome Research for a detailed description, and discussion, of this method of genomic hybridization).

Genomic hybridization, in general, is used to detect large-scale differences between a DNA sample of interest (usually, DNA taken from a tumor cell) and a reference sample. Both samples of DNA are tagged with small molecules that fluoresce in different colors, denatured (i.e., heated to a point where the strands untangle from one another), and added either to a sample of normal human chromosomes taken from cells that are just about to divide --- i.e., the paired chromosomes have split --- or to a slide covered in smaller DNA probes, or lengths of bases snipped from a reference sample of human genomic DNA at regular intervals. Given enough time, the denatured experimental and reference DNA samples will try to pair up ("hybridize") with the probe DNA that has been provided to them. When that happens, you can wash off all the single-stranded and unmoored double-stranded DNA (leaving only DNA that has hybridized to your probes, which are attached to a glass slide or microarray) and look at the radiation being emitted by the DNA left on the slide (using a fluorescence microscope or a spectrophotometer). Depending on what kind of copy-number variations (if any) are present in your sample, it will affect what color light you see more of. If you have a deletion of all or part of the genome regions represented by your probes*, the sample won't hybridize there, or it will hybridize very weakly, so you'll see a preponderance of whatever color you've chosen for your reference sample. Conversely, if a sequence of DNA is repeated in your sample, more of the experimental DNA than reference DNA will be able to hybridize to the (limited number of) probes, and the color you'll see will reflect that.

Now, ROMA differs from standard-issue microarray-based comparative genomic hybridization in one key way: instead of using a whole genome as a sample, it cuts up the genome with restriction endonucleases (enzymes for cutting up DNA that occur naturally in bacteria), amplifies the enzyme-digested sample (i.e., makes lots and lots of copies of it, with the help of a different bacteria-derived enzyme), and hybridizes these short fragments (called "representations") to a microarray probe equipped with short sequences designed to be complementary to the fragments. According to the researchers who created this method, using representative fragments instead of whole genomes allows for the detection of copy-number variations on a smaller scale than was previously possible.

Anyway, that's the method of genomic analysis these researchers used. (Several of them, including the lead researcher, Jonathan Sebat, were on the team that pioneered ROMA in that aforementioned article.) There's a lot more detail about their methods here, in the Supporting Online Material, if there's anything you're curious about that I didn't address.

The weird thing about this research, the thing I wanted to point out as complicating the notion of autism-as-inherited-genetic-variation, was the fact that all of the copy-number variations they found, the ones that were present so much more frequently in autistic people without a similarly-affected relative, were de novo --- not inherited, but spontaneously arising during embryonic development. (In fact, inherited copy-number variations --- those found in both parents and children --- were left out of the statistical analysis. The researchers wanted to highlight de novo mutations).

From the article:

Our findings have implications for an understanding of the genetic basis for ASDs. An important feature of the de novo CNVs we report is that each is individually rare in the population of patients. None of the genomic variants we detected were observed more than twice in our sample, and most were seen but once. Although our sample size is small, these results suggest that lesions at many different loci can contribute to autism, a result consistent with the findings from cytogenetics, as well as consistent with the failure to find common heritable variants with a major effect on disease risk. Lack of recurrence may in fact reflect an underlying reality that autistic behavior can result from many different genetic defects. This would be consistent with the hypothesis that the common features of autism such as failure to develop social skills and repetitive and obsessive behavior may in fact be the consequence of a reaction to many different cognitive impairments, drawing their "commonality" from a normal but maladaptive programmed response of humans early in development to those diverse impairments.
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We can incorporate a high rate of spontaneous mutation in a genetic model that accounts for both sporadic and familial forms of the disease, based on new mutations that cause autism by haploinsufficiency [Wikipedia link] but have incomplete penetrance, especially in females. Such individuals who escape the phenotypic consequences can then pass on the mutation ... .

(Yes, there's an awful lot of pathologizing language in this excerpt. Sorry about that. The talk of "genetic defects" and such sets my Eugenics Radar a-pinging, and that's never a good sign.)

I also have no idea what is meant by that last sentence of the first paragraph, which attempts to explain the diverse genotypes all leading to one common phenotype, which we call autism. That's the biggest thing that confuses me about the size and heterogeneity of the pool of mutations that have been found in all the various genetic studies of autism --- how can all these different mutations lead to the same thing? This concern is somewhat mitigated by my knowledge of how imprecisely "autism" is defined, and the fact that it's defined behaviorally rather than physiologically.

While these findings of high rates of spontaneous mutation associated with autism do add another layer of complexity to the what-causes-autism debate ("It's genetic!" "It's acquired sometime during gestation!" "It's both!!"), they also make sense out of a lot of things. Foremost, it accounts for the lack of any one heritable mutation common to all (or most, or even a large minority of) autistic people, and the vast array of mutations occurring in individual autistic people.

It also makes the (what I assume to be**) relatively uniform proportion of autistic people in human populations across space and time make a bit more sense --- if it was mostly inherited, you would expect populations that are reproductively isolated from one another to diverge in their relative levels of this trait, as they do in other traits. But the rate of spontaneous mutation is more or less constant.

*or, if you're using chromosomal cGH, anywhere at all, so long as the deletion is big enough to matter at that level of analysis.

**Judging from the smattering of cross-cultural studies of autism prevalence I've read

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., Leotta, A., Pai, D., Zhang, R., Lee, Y., Hicks, J., Spence, S., Lee, A., Puura, K., Lehtimaki, T., Ledbetter, D., Gregersen, P., Bregman, J., Sutcliffe, J., Jobanputra, V., Chung, W., Warburton, D., King, M., Skuse, D., Geschwind, D., Gilliam, T., Ye, K., & Wigler, M. (2007). Strong Association of De Novo Copy Number Mutations with Autism Science, 316 (5823), 445-449 DOI: 10.1126/science.1138659

Stop, Look and Listen --- It's Autistics Speaking Day

First, a little background information:

Today, there's something going on called Communication Shutdown, in which people are encouraged to abstain from Facebook and Twitter all day to 1) raise awareness of autism --- while users are offline today, their pages will display an icon that explains why they're offline; 2) simulate what it's like being autistic, i.e. being cut off from the wide world of social communication; and 3) raise money for various autism charities around the globe via participant donations.

(For a brief, but really enlightening, discussion of why autism charities are problematic, see this post on Cripchick's blog).

Lots of autistic bloggers, Facebook and/or Twitter users are annoyed with this autism-awareness campaign, partly because abstaining from social media isn't very enlightening as far as what it's like to be autistic.

Social media and the Internet actually represent ways autistic people connect with others, to a greater extent than we can in our non-digital lives. The Internet has allowed us to meet other autistic people around the world, talk about issues that are important to us, commiserate and empathize with each other over things that non-autistic people --- however kind or well-intentioned --- just don't understand. Social media can enable us to maintain friendships across distances that we might not be able to cross in the physical world, since autistic people are often unable to travel as freely as non-autistic people to whom driving a car, riding a bus cross-country or flying on an airplane and navigating a busy airport do not constitute serious challenges.

So, for some autistic people, a better awareness campaign would be something like Corina Becker's idea: Autistics Speaking Day, in which autistic people take to their blogs, Facebook pages and Twitter accounts to write about what it's like to be autistic.

Let us use this day to flood every social networking site we know with our accounts, our experiences, what it feels like to be Autistic.

Every sensory pain, every communication frustration, every account of being bullied, every wondrous moment, every peaceful calm, every instant of understanding and joy.

Let them hear our voices and take back the Autism community.

Let us speak.

Let us tell you what it's like to be us.

And that, would be true Autism Awareness.

* * *

For Me to Speak, You Have to Listen.

Sometimes, people with disabilities need more space than people without disabilities do. This applies not just to physical spaces --- aisles, car and bus interiors, seating, sidewalks, doorways, hallways, etc. --- that need to be broad enough to accommodate wheelchairs, walkers, scooters, service animals, or other mobility and assistive devices, but also to interpersonal spaces.

A conversation can be accessible or inaccessible, just like a building can be. Just like there are places where only people who can do certain (physical) things --- climb stairs, squeeze through narrow openings, open heavy doors, etc. --- can go, so are there social and political environments where only people who can do certain (verbal, mental, emotional) things can participate.

You have to be able to speak, loudly and rapidly. Most of the time, you'll need to be able to control your need for pauses, for breathing or thinking space, so that you can get a complete thought out in one piece. You have to be able to intellectualize --- not to get so upset that you become incoherent, which can be hard if the issues being discussed have a direct bearing on your life. You also can't be too intellectual, or you'll lose your audience. You can't talk for too long. You can't be too abrupt. You have to be able to see where the conversation is going, as if it were a living thing that could walk, float, flutter, slither or ooze its way around a room, and adapt whatever it is you want to say to fit what your audience expects to hear.

It's the speed of group conversation that's hardest for me to deal with, for a lot of reasons. One reason is that, since I don't hear tones of voice or anything "meta" to the actual words being spoken (I can infer sarcasm from context --- say, if I know the person and they are saying something diametrically opposed to what I know they believe --- but my first instinct is always to take things literally), I cannot tell the difference between a silence that signifies that someone has finished speaking, and a pause in the middle of a block of speech. I distinguish them by waiting to see if the person resumes speaking; if they never do, I decide that the way is clear for me to respond.

Of course, in all the time it takes me to do this, someone else has already perceived the opening and begun to speak.

The other big problem I have with speaking, and responding to other people's speech, is that I don't think in words. It can take me a very long time to convert what's going on in my head --- which is sometimes a single still image, sometimes a slideshow of images, sometimes just a jumble of colors and shapes, moving and changing, and sometimes looks like nothing at all, even to me on the inside --- into coherent, grammatically-correct, meaningful language. It is somewhat easier to effect this transformation in writing, where what I have already written stays there for me to read, to orient myself and build on, while in speech all the progress I've made evaporates into the air, leaving me nothing to work with. Most importantly, though, in writing I have the luxury of waiting as long as it takes for my thoughts to solidify into nameable concepts.

Time is not on my side when I'm trying to participate in a group discussion. I can't wait for my thoughts to reveal themselves to me in communicable form, but neither can I describe what I see as it appears to me; most of the things I see elude description, or, if they can be described, defy interpretation. The thing I can do earliest is perceive an absence; sense something that is not being addressed. I can't always see what's missing, but I can usually tell that something is.

When that happens, I've learned to tell people to wait.

* * *

Other Autistics who are Speaking today:

Bev at Square 8 says, "Squawk?"

Corina Becker has posted a roundup of her own past writings about autism

The Untoward Lady writes about being autistic and in love

Amanda Forest Vivian has two posts, one about how 1) passing as non-disabled can be a mixed blessing and 2) therapies that are primarily geared toward turning non-passing people into passing people are misguided; and one about "Regular Person Listening Day"

Kat Bjornstad has a link roundup, and a discussion of her experiences starting a blog and running an Autistics Speaking Day Facebook event

Rachel Cohen-Rottenberg at Journeys with Autism speaks her mind, and also speaks from her heart

Clarissa wants to know, "How Does Silence Support Autism?"

Astrid van Woerkom sometimes loses the ability to speak

Savannah Logsdon-Breakstone has reposted several of her poems --- "Articulate", "Analogy > Simile > Metaphor and Me", "Feet", "Poetry and the Vision of Thought", "To Inspiration", and "Allied, Unallied, Re-Allied" --- and an "accessible interpretation" of her poem "To Inspiration"

Leah Jane at The Quixotic Autistic talks about a project she's been working on with her local autism club

Clay Adams reposts an essay by Ari Ne'eman

(That's not all, not by a longshot. Kat's link roundup has more, and Sunday Stilwell at Adventures in Extreme Parenthood and Kim Wombles and Kathleen Leopold at the Autism Blogs Directory all have link roundups of their own)

Jack-o'-Lanterns

As I'm sure most longtime readers know, Halloween is my favorite holiday. I always put a lot of thought into jack-o'-lantern designs, and this year, since I didn't have an enormous behemoth of a pumpkin to lavish attention on like I did last year, I carved five small ones.

Here's a shark:

(You can see he's got a double row of teeth there! Had to make sure I picked a thick-shelled pumpkin for that one, so that the second row would sit back behind the first).

Here's a ghoul, with a gaunt, bony face, snaggle teeth and stringy hair falling over its face:

(One of the hairs broke when I was carving the mouth).

Here's a mummy; I peeled the whole face of the pumpkin and tried to do the bandages in a sort of relief, so that they would stand out despite all being the same color. I didn't really see it as I was carving them --- they seem to blend into each other when you look close at it --- but they stand out more from a distance.

There's a second eye socket carved in there, too --- I wanted to give the impression it was covered in gauze, so I didn't cut that eye out. When the pumpkin is lit, that socket glows faintly.

Here's one of an evil smiling face, with long sharp teeth.

Here's me, pretending I'm going to throw it at someone:
And here's me holding the last pumpkin in my lap. It's the smallest one, so I didn't want to try to carve anything too elaborate into it.
I settled for simple, but eloquent, I think. The shape of the mouth, and the size of the eyes relative to the mouth, give the impression that this pumpkin is afraid of its bigger, scarier siblings.

I Think I'm Finally Starting to Figure ResearchBlogging.org Out ...

I've had an account over at ResearchBlogging.org (a nifty aggregator website for posts about peer-reviewed research) for a year or two now, and though I've tried several times over this period to upload posts there, I never succeeded until today.

Even now, my success rate is nothing to be envious of --- today, I think I've tried to upload seven posts (making many separate attempts at each one, for the most part, although sometimes I get lucky and something will go through on its first or second try), and have only succeeded with four.

My problem, in case anyone reading this also posts at ResearchBlogging.org, is that the thing that scans your posts for citations can't seem to detect mine. I use their Citation Generator, and paste the code into all of my researchy posts, but for whatever reason posts I try to upload keep getting held up and flagged with "No citation" or "Error" messages.

(When I get an error message, it acknowledges that I included a citation, but it tells me the citation "cannot be parsed as XML". I have no idea what to do when it tells me this).

Anyway, here's my page at ResearchBlogging.org --- now with content! Yay!

Green Paua Shell Necklace

I made this necklace sometime last month --- it took a long time to do, and I'm hugely proud of it.
Its centerpiece is this large green paua shell bead, which I've had for years but only now thought up a jewelry design worthy of it:
The things I'm proudest of about this design, from a technical standpoint, are 1) the little square frames of light-green beads surrounding the dark-green faceted glass beads (which you can see pretty well in the top two photos) and 2) the way I managed to taper the wide sweep of beads framing the shell into two little cones that come together at the clasp.

I like wide, many-stranded designs in necklaces and bracelets, but until I hit on this tapering method --- spacing the strands wider at the bottom than at the sides, where only half of them pass through the beaded spacer bar, and leading up to the clasp with two more beaded spacers (this time rings) through which the halving process can be repeated --- I had problems with making my many-stranded necklace drape properly.

When I wear them, they naturally tend to curl up into a tube at the back, near the clasp. Using this method, where four strands radiate out from the clasp and gradually ramify into the thirteen strands supporting the shell, allows the necklace to stay in tube shape until it gets to about the level of the clavicle, where it wants to be flatter anyway.

New Open-Access E-Journal: Molecular Autism

While hunting around the Internet for autism-related research articles I might want to write about here, I found something really exciting: a free, totally open-access online journal dedicated to the molecular biology of autism.

Molecular Autism, from the look of it, was just started up this year. Its editors-in-chief are Joseph D. Buxbaum and Simon Baron-Cohen.

Here is their first editorial, a vision statement of sorts for Molecular Autism:

Molecular Autism joins other journals targeting autism and associated conditions but differs in key ways. First, Molecular Autism is both online and open access. In a field where dissemination of accurate information has become so important, where internationally, scientists, educators, clinicians, and families are tracking the developments and are looking for up-to-date, definitive and accessible sources of scientific information, Molecular Autism will provide such a forum. Open access means that the articles are freely available to all, worldwide, and at no cost to the reader. Online publication allows for no restriction on number or length of articles and for the inclusion of all available digital technologies: large data sets, unlimited use of color, slide shows, animation, video clips, and links to other web pages, all at no additional charge. Articles are published online on the day of acceptance and, very soon after, are listed in bibliographic databases and full-text article repositories. BioMed Central is a leader in online, open access journals ensuring that this mission will be seamless.
...
The second way in which Molecular Autism differs from other journals in the autism-science field is by having a focus on the molecular level. Whereas other journals have a broad remit, from clinical and educational psychological studies through cognitive experiments to neuroimaging and genetics, Molecular Autism will publish articles that have a bearing on the molecular basis of autism and related conditions. This does not preclude a behavioural or cognitive or neural study, so long as there is also a molecular measure in the study or the implications for the molecular basis of autism are considered. Our reason for this requirement is that part of our mission statement is to accelerate research into the fundamental determinants of the condition. The first 60 years of autism research have had a bias toward the psychological, and we intend - via this new journal - to correct this emphasis.

The third way in which Molecular Autism differs from other autism journals is that it aims to achieve integration across the multiple levels that these syndromes affect. We now recognize that autism will not be understood by a single discipline, be it genetics or neurology or psychology. Rather, each level has to be mapped on to the next, to reveal how mechanisms give rise to the phenotype within each system. This makes autism and related syndromes complex but the response to such a challenge has to be scientific articles that attempt to tackle such multi-level complexity.
...
We are in a transformative period in autism research. Behavioral interventions have been shown to be effective, and earlier diagnosis, using molecular and behavioral methods, becomes critical to take advantage of these interventions. In parallel, identification of etiological causes of autism has led to novel drug targets, and several large-scale clinical trials are being carried out based on these findings. We underline the important ethical issue that research into efficacy of medications should evaluate not only improvements in areas of known disability, but the lack of unwanted side effects (particularly ensuring that areas of strength in autism are not compromised). Molecular Autism will be at the forefront of these breakthroughs.

There's a lot in that editorial, and some of it (especially that last paragraph) needs unpacking.

First things first: I love, love, love free open-access journals. There's a persistent idea floating around that strong anti-science sentiment in public life is at least partially the fault of scientists themselves, who are terrible communicators walled off from the rest of the world in their insular academic and corporate R&D communities. Making the content of scientific journals freely available online to everyone* seems to me like a great way of letting the public in on what scientists are doing, although I do think it would be even better if articles could be (re)written for public consumption in more accessible language, with more detailed explanation of what individual data mean. (I understand that doing that requires a lot more work from scientists, who are very busy, though, and that if these articles were to be posted online for free, that work might well be uncompensated. I still think it would be an awesome thing to do, I'm just not sure how to make it a less onerous, thankless task for the researchers who'd be doing it).

I'm also very interested in the molecular mechanisms of autism --- I like biochemistry and molecular and cellular biology in general, and obviously I've got an existential interest in learning how my autistic nervous system differs from the standard model --- and not as interested in the fields of psychology and special education, which is where the bulk of autism-related research is being done. (Nothing against those fields, I just find molecular biology more interesting).

So, from a standpoint of pure intellectual curiosity, I'm tremendously glad there's an open-access journal dedicated to the molecular biology of autism. From a disability-rights standpoint, though, I worry about the implications of Molecular Autism's editors' stated ambition to shift the focus of autism research more onto molecular biology and away from psychology and education.

(Not that psychology and education haven't yielded some deeply problematic ideas about autism and methods to treat it --- psychology has given us both the mother-blaming "refrigerator mother" theory of autism and, more recently, the dehumanizing notion that autistic people can't feel empathy; and more educational, learning-theory approaches to autism tend to overemphasize the teaching of how to simulate "normal" behavior).

The trouble with mechanistic, biologically-based autism research, as Sarah discusses in this oldish post --- especially with research focusing on finding genes, biomarkers, or very early behavioral phenotypes characteristic of autism --- is that it's always done with an eye toward eradicating autism altogether.

No discussion of research into autism genetics can be complete without a discussion of the ethical issues of prenatal testing and screening for autism; no discussion of the neurophysiology of autism can be complete without addressing the risks and benefits (and who takes the risks, versus who reaps the benefits) of prescribing drugs to alter that neurophysiology; likewise, no discussion of early behavioral differences between autistic and non-autistic infants is complete without addressing the ethics of intensive normalization training, especially in terms of consent.

The last paragraph of the editorial I quoted does not acknowledge that there are any ethical issues with ABA (the "behavioral interventions" alluded to, which are to be implemented as early as possible), though they do tip their hat to the idea that forced drugging is problematic.

Another criticism of biological research into autism is that it won't improve quality of life for autistic people. I don't agree with this as much as I agree with the earlier criticism about ethics, and autism researchers too often ignoring the wishes, rights and concerns of actual autistic people; I think research into the neurobiology of autism has great potential to lead to better medications for neurological or psychiatric problems autistic people have. We are plagued by anxiety, depression, obsessions and compulsions, phobias, disabling sensory hypersensitivities, distortions or jumbling, and many of us have other problems, like seizures. Our autistic neurology is not always at the root of these problems, but it can certainly interfere with our attempts to treat them. If personalized medicine is the wave of the future, it makes sense that autism-specific drugs (even if those drugs are not *for* any aspect of autism) will be a part of that. Knowing how our nervous systems work, and how they differ from non-autistic people's, could lead to the development of drugs that will be more effective and less risky or loaded with unpleasant, unpredictable side effects in us.

So, while I don't want research into underlying causes of autism to be scrapped --- I want to know what autism is, on a genetic, cellular and molecular level, just as much as these researchers do; and also, I think the knowledge that molecular autism research yields might also yield drugs that could improve quality of life for some autistic people --- I would like to see active engagement with autistic people on the part of these researchers. I want autistic people weighing the ethics of various avenues of research, and I want their opinions published in Molecular Autism alongside the proposals for research they're critiquing.

*Everyone with a computer, Internet access, and the ability to read whatever language a given article is written in, that is --- and they're not all in English!

Awesome Website: Take Back Halloween!

Suzie posted a link to this wonderful website today on Echidne's blog; the site is called Take Back Halloween!, and it's full of cool ideas for Halloween costumes based on powerful female figures from history and mythology.

(The name, Take Back Halloween!, refers to the current trend for women's Halloween costumes to be a "sexy" version of some generic category or character: I've blogged before about unimaginatively "sexy" superhero costumes. The ladies at Take Back Halloween! want to see more thoughtful, creative, personalized Halloween costumes; it's not sexiness per se but rather homogeneity and lack of imagination in Halloween costumes that they lament. See the Take Back Halloween! About page for more details.)

My favorite costume on that site, so far, is actually one that had occurred to me before as someone it would be cool, and relatively easy, to dress up as: the famous female pharaoh Hatshepsut. Here's what Take Back Halloween! says about her:

Hatshepsut (ca. 1508-1458 BCE) was an extremely successful pharaoh whose reign was full of accomplishments --- important trade missions, gorgeous architecture, a booming economy. But the thing she's most famous for, at least nowadays, is that she had herself depicted as male on her monuments. There she is, King Hatshepsut, striding across the ancient bas reliefs with her broad shoulders and her beard ... it's a little weird until you understand what's going on. The role of pharaoh was gendered male in ancient Egypt, and Hatshepsut was just assuming the badges of office. She wasn't pretending to be personally male, and the texts unmistakably refer to her as female: "she" is the beloved "daughter" of Amun, destined to rule, and so forth. But Egyptian iconography and religion called for the pharaoh to have a male form, and so Hatshepsut had herself depicted with beard, kilt, the whole bit.

Take Back Halloween! suggests a standard dime-store Egyptian Queen costume, with the stripey headdress of a pharaoh substituted for whatever crown the costume comes with.

My own idea, when I conceived of a Hatshepsut costume, was to dress as the masculinized "King Hatshepsut" character --- fake beard, stripey headdress, crook and flail, pleated linen kilt, boobs bound down with a strip of the same material I'd used for the kilt. (This would be, obviously, only practical if the weather was warm, or if I was going to wear it to a party or other indoor event. In Kansas, it is usually too cold at night in late October to be running around outside with that little clothing on).
I would also wear a cardboard cartouche around my neck on a string, with (if I could find them) the hieroglyphs spelling Hatshepsut's name painted on it.

Another thing I thought would be fun to add to this costume, to throw a little gamer-geekery into the mix, would be to wear shoes evoking the "Freudian slippers" card from Munchkin, which allow your character in that game to function as whatever gender you say they are, even both at the same time. I thought that would be particularly a propos for Hatshepsut, who is female, but yet also male in her role as Pharaoh.

They also have lots of ideas for mythological-character costumes, which is another area of geekery that is dear to my heart. I was actually just pondering the best way to make a Gorgon costume that wasn't just a bunch of rubber snakes braided into one's hair --- the Gorgons, depending on what version of the myth you're reading, might have talons of bronze, wings of gold, and tusks like a wild boar or hippopotamus, or they might just be scaly and dragonlike; either way, "normal-looking woman with snakes on her head" falls short of the level of fearsomeness required.

Unfortunately, their Medusa costume is just a snake wig and a coat. Blah.

But they've got an impressive array of ancient-goddess costume ideas: there's the winged Egyptian goddess Isis, the Mayan goddess Ix Chel, the Japanese sun goddess Amaterasu, and the Sumerian goddess Inanna. And those are only the goddesses I'd heard of before going to the site!

Who's That in the Mirror? Autism and the Developing Sense of Self

EXECUTIVE SUMMARY: A small, exploratory British study of preschoolers with either autism or Down syndrome and typically developing toddlers looked at how each group of children acted toward their reflections in a mirror. They looked for trends, both group trends (i.e., how do autistic children differ from their non-autistic developmental peers, represented in different ways by the Down syndrome group and the younger typically developing group, whose chronological age matched the developmental ages found for both developmentally-disabled groups), and within-group trends relating mirror behavior to performance on a test of mirror self-recognition (i.e., do they know that the person in the mirror is their own reflection).

They found that although the autistic children did not differ from the younger, typically developing children in the amount of time spent looking at their own faces, but that they did spend a lot more time looking at objects in the mirror, and that their behavior toward their reflections differed from that of either control group. The autistic children did not generally try to relate socially to the person in the mirror; what they did instead varied according to whether they recognized their own mirror images or not.
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(The Evil Queen from "Snow White and the Seven Dwarfs" with her Magic Mirror)

BPS Research Digest spotlighted this study published in last month's issue of Autism, which claims to describe another type of subtle behavioral difference between autistic, otherwise developmentally disabled, and typically developing children.

Autistic children, they hypothesized, would act differently toward their own images in mirrors than either typically developing toddlers or developmentally delayed --- but not autistic --- children (in this case having Down syndrome) of similar ages to the autistic children. They would look in the mirror, and would experiment with it (i.e., doing things to see those things reflected back to them, using the mirror to look at things behind them, etc.), but would not try to engage the person in the mirror socially; would not talk to it, smile at it, or try to show it things.

(Reading this, I was kind of surprised to see that it was normal to treat the mirror image as if it were a real person! It doesn't act like one, and you'd think that if you recognized it as yourself, you'd know you couldn't actually talk to it or interact with it, because it would just do the same things you did. Of course, the children in this study were very young --- the typically-developing ones were about eighteen months old, and the Down syndrome and autistic kids three or four years old.)

Methodologically, the study's not that interesting: the researchers went into the homes of each of their subjects (38 in total: 12 with autism, 13 with Down syndrome, and 13 typically developing toddlers), produced a mirror, filmed the children interacting with it freely for two minutes, and then tested to see if the children recognized themselves in the mirror by having their parents put a sticker on their faces to see if they removed the sticker after seeing it reflected in the mirror. If they removed it, they were said to have passed the "Mirror Self-Recognition" (MSR) test*.

Later, the researchers watched the videos they'd made of the children interacting with the mirror, looking for group differences (between autistic, Down syndrome, and typically developing children, but also between passers and failers of the MSR) in such things as level of interest in one's own face (i.e., how long does the child look at hir own face, rather than at other things reflected in the mirror), kind of actions directed at one's reflection (i.e., does the child greet hir reflection, talk to it, perform in front of it, or show things to it), and affective response to one's reflection (does the child appear pleased to see hirself, do they appear self-conscious, coy or embarrassed, do they smile at themselves).

Compared with the other groups, the autistic children spent a lot more time looking at objects in the mirror. However, contrary to what you might expect given the common wisdom about autistic people avoiding eye contact/looking at faces, though, they did not differ much from the typically-developing ones in how long they spent looking at their own faces. (The children with Down syndrome spent the most time looking at their own faces).

Figure 1, in Reddy et al. (2010). The panel on the left shows the amount of time (expressed as a percentage) that the different groups of children (autism, Down syndrome and typically developing toddlers, each subdivided into passers and failers of the mirror self-recognition test) spent looking at their own faces. The panel on the right shows the amount of time they spent looking at other objects in the mirror. In both graphs, the placement of the bars (i.e., are they higher or lower) is what tells you how much time a given group spent doing a given thing. The size of the bars (i.e., are they long or short) tells you how much variation there is within that group.

The autistic children also differed from the other two groups in what kinds of things they did in front of the mirror; autistic children, whether they recognized themselves in the mirror or not, spent a lot less time trying to relate to their reflections socially. What they did instead varied with whether or not they understood that they were looking at themselves: autistic children who passed the MSR test spent most of their time experimenting with the mirror, tilting it to see things around the room, doing things with toys or with their faces while watching to see those actions reflected back to them, while autistic children who failed to recognize their own reflections spent more time simply watching the person in the mirror.
Children with Down syndrome also spent more time watching their reflections if they failed the MSR test; the typically developing children spent about the same amount of time watching themselves whether or not they seemed to know they were watching themselves. They also spent more time watching themselves, relative to other actions, than either of the atypical groups. The study authors hypothesize that "[a] watchful focus on the self could be due to imminent self-recognition (suggested by the finding of a short-term alignment between watching and self-recognition in typical development, Nielsen et al., 2003)."

The typically developing children also did not show any relationship between MSR and social-relating behavior toward the mirror: whether they recognized themselves or not, they were just as likely to act as if their reflection were a social partner or an audience, as opposed to just a reflection (which is how the autistic children tended to treat their reflections, if indeed they recognized them as such). The children with Down syndrome tended to do *more* social relating with the reflection if they passed the MSR test, which seems counterintuitive to me. You'd think someone would be more likely to try to establish a rapport with something they believed to be another person, rather than with what they knew was only an image of themselves. (Oh, well --- like I said before, I'm no developmental psychologist!)

So, what do this study's authors (the University of Portsmouth's Prof. Vasudevi Reddy and Cristina Costantini, the University of Surrey's Dr. Emma Williams, and Britta Lang) think their results mean?

Their study was published in a special issue of Autism pertaining to how a sense of "selfhood" develops in autism, and indeed they do manage to tie these findings to an alleged autistic impairment** in developing this sense:

Difficulties in interpersonal relatedness in autism appear to extend to difficulties in relatedness with the self, supporting arguments about a reciprocal relation between a sense of self and a sense of other (Hobson, 1990; Mclaren, 2008). In typical development the affordance of the face is almost unavoidably social, with direct gaze attraction attention from birth (Farroni et al., 2002) and acting as an ostensive signal (Senju & Csibra, 2008). In autism, perhaps particularly in mirrors where there is no one else to initiate engagement and no other social behaviour to highlight interpersonal cues, this affordance may be even less potent in inviting interaction. Engaging with the self can also provide opportunities for learning about expressions and interaction. Given the enjoyment that typically developing children and children with some other developmental disorders derive from such engagement, the loss of this opportunity in autism might potentially contribute to further impairments in the development of a sense of self.

This passage, along with a passage I will also excerpt from the Introduction ---

In developmental psychology the mirror has become synonymous with the identification of the self ... . But mirrors can also symbolise and allow a relation with the Other. They can reflect the self back as the Self, as an Other, as seen by an Other (Kernberg, 2006) or, indeed, as just another reflection. How one reacts to the self in a mirror allows us to study the extent to which the self is perceived and presented as a social being.

--- argues that there is a social dimension to the sense of self, which seems to start developing pretty early.

It also echoes the feedback-loop theory I've read about in connection to another early-childhood marker of autism that's been studied recently: eye gaze. Autistic infants have been found not to prefer looking at human faces, which, the theory goes, leaves them without motivation to pay special attention to them, while their typically developing peers, who do derive pleasure from looking at faces, learn to specialize in reading faces. Reddy and her colleagues' suspicion that the mirror does not "invit[e] interaction" for autistic children in the same way it does for their typically developing and Down syndrome peers extends this notion to the broader realm of reciprocal social behavior in general.

I have one more thing I'd like to bring up in connection with this study, and with mirror self-recognition tests in general: this earlier post on BPS Digest describing cross-cultural studies of mirror self-recognition tests. Apparently, children from different cultures perform differently on the mirror self-recognition tests (which involve placing a spot on the child's face and waiting for hir to remove it when ze sees it on hir reflection), with children in some cultures failing to remove the spot even at ages much older than the second year of life, which is when children in the U.S. (and similar cultures) start passing the test. This is not because these children don't understand that they are looking at themselves, but because their cultures have different standards for how children are supposed to behave in adult company. The children may not know if they're *supposed* to remove the spot, so they might choose to do nothing rather than act rudely and be punished for it.

I bring this up, even though I'm not sure it has any direct bearing on the results of this mirror self-recognition study, because I think it is important to remember that autistic children's social behavior, in this (U.S., white, middle-class) culture and others like it, is policed much more aggressively than typically developing children's behavior is. Autistic children learn quickly that their natural ways of speaking, acting and relating to people are wrong, so they might well adopt a more passive social posture until they've seen enough to know what's expected of them.

Again, I don't think that's necessarily at work in this particular study (the children are so young, I doubt they've yet gotten much negative feedback about how they act), but I want to mention it because I don't know that many autism researchers consider the effect of culture and socialization on autistic children, much less ways autistic children are socialized differently than non-autistic ones. Instead, the common wisdom seems to be that we are immune to culture and socialization.

*An explanation of this test, and what it supposedly says about sense of self, can be found here at Noah Gray's blog, Nothing's Shocking, hosted by Nature.com. Basically, if the subject (human or animal) knows to remove the sticker (or wipe off the spot of paint, or whatever) based on having seen it in the mirror, we can reasonably infer that they know the mirror is showing them an image of themselves, not another person or animal.

**I think it's funny, if only from an etymological standpoint, that AUTistic people are now thought to have an impaired sense of self.

Reddy, V., Williams, E., Costantini, C., & Lan, B. (2010). Engaging with the self: Mirror behaviour in autism, Down syndrome and typical development Autism, 14 (5), 531-546 DOI: 10.1177/1362361310370397

Ari Ne'eman Interviewed at Wired.com

Ari Ne'eman, founding president of the Autistic Self-Advocacy Network and now a member of the National Council on Disability, spoke to Wired.com back in July, and they have now posted the interview on their Wired Science blog.

Here are some excerpts from the interview that I thought were particularly awesome:

Wired.com: Many Wired readers work in the tech and software industries. How could they help improve the lives of autistic people?

Ne'eman: If we put one-tenth of the money currently spent on looking for causes and cures into developing technologies that enable autistic people with speech challenges to communicate more easily --- so-called augmentative and alternative communication [AAC] --- we'd have a vast improvement in the quality of life for autistic people and their family members.

We've already seen some very promising tools for AAC and other assistive technologies start proliferating on the iPad and the iPhone. But Medicaid won't pay for such dual-use devices, despite the fact that having an AAC app running on an iPad may be much cheaper and more functional than carrying around a dedicated AAC device. That should change, because AAC devices are currently too expensive and often not versatile enough to be used in a diverse set of circumstances.

Second, I'd love to see research into ways of using social media to improve access for disabled people. If there was some kind of web-based tool or mobile app that enables people to flag buildings with "very good" or "very bad" access, it could spur a lot of positive social change.

Finally, there should be websites or apps that enable disabled people to rate their service providers and record their experiences, like the websites that already exist for college students to rate their professors. The internet has proven to be very important for autistic people, because it's given us a chance to connect with each other and start to form a culture of our own. We've barely begun to tap the potential of handheld networked devices to assist with the kinds of deficits in executive functioning and life skills that many of us on the spectrum face. Mobile devices and apps could be very helpful in improving prospects for employment and education across the whole life span of autistic people --- not just when we're kids.

I love Ari's ideas about assistive technologies --- I would never have thought of using an iPad or iPhone as an AAC device*, but now that he suggests it, I can imagine it working well for that. I'm also enthusiastic about the web-based accessibility- and caregiver-rating. The accessibility-rating for places could speed up the currently-very-slow process of getting city governments to respond to people's complaints about poor accessibility through the Internet's ability to gather a critical mass of people calling for a given thing much more quickly than traditional, localized grassroots organizing. (Darned if I know how mobile devices and apps could help with education and employment, though, apart from their utility as AAC devices that he already mentioned).

(I can pretty easily imagine why Medicaid officials --- assuming they know about AAC apps for iPad/iPhone, which maybe they don't --- would be loath to use Medicaid funds to cover those things, even if they are cheaper and more practical: can you imagine the scandal if some deficit hawk in Congress were to discover Medicaid funds being used to provide iPhones to poor people with disabilities? The horror!)

More Ari:

Wired.com: Some of your critics suggest that as a "high-functioning" person with Asperger's syndrome, you present an overly rosy picture of life on the spectrum. You work in D.C., do a lot of public speaking and networking, and are obviously capable of things that someone who lives in a wheelchair or can't speak cannot do.

Ne'eman: I know quite a few people in D.C. who use wheelchairs, and I know people who use AAC devices and work in public policy. Some of my mentors fall into those categories. So while I'd agree that there are many things I do that some other autistic people can't, I wouldn't say that it's the fact that I'm not a wheelchair user or an AAC user that makes that the case.

I recognize that I'm fortunate in many respects and am able to do things that some other autistic people can't do. But I would also point out that these things didn't --- and don't now --- come easily to me. I've been fortunate to be able to count on the inclusive culture of the broader disability-rights movement to help support me.

There's a strange idea out there that neurodiversity advocates think that autistic life is all flowers and rainbows, but I don't know anyone who thinks that way. Most of us have had deeply personal experiences with social isolation, bullying and abuse, lack of support, discrimination, and plenty of other problems. But it's much more productive for us to focus on how we can improve people's lives than to keep presenting people as pitiable burdens.

No more pity. It doesn't help anybody.

Many of the bad things that autistic people struggle with are things that happen to us, rather than things that are bad about being autistic. Why is that an important distinction? I remember reading a blog post from a parent who pointed to two news stories. One was about a mother who had murdered her autistic child because she couldn't deal with the fact that he wasn't normal, and the other was about a school aide who had abused a child. And the blogger said, "This is what autism is like. That's why we need to find a cure."

I find that kind of thinking despicable: One would think the fault there isn't with autism, but with abusers and murderers! As long as we confuse bad things that happen to autistic people with what it means to be autistic, we're not going to be solving the problems that autistic people face in any meaningful way.
...
Wired.com: Though you criticize groups like Autism Speaks for focusing on a cure, if someone offered you a pill to wake up tomorrow without autism, would you take it?

Ne'eman: That's an intensely silly question. How can I draw a line around one part of my brain and say this is the autistic part, and the rest of me is something else? That way of looking at autism is predicated on the strange idea that there was or is a normal person somewhere inside me, hidden by autism, and struggling to get out. That's not reality.

As a society, our approach to autism is still primarily: "How do we make autistic people behave more normally? How do we get them to increase eye contact and make small talk while suppressing hand-flapping and other stims?" The inventor of a well-known form of behavioral intervention for autism, Dr. Ivar Lovaas, who passed away recently, said that his goal was to make autistic kids indistinguishable from their peers. That goal has more to do with increasing the comfort of non-autistic people than with what autistic people really need.

Lovaas also experimented with trying to make what he called effeminate boys normal. It was a silly idea around homosexuality, and it's a silly idea around autism. What if we asked instead, "How can we increase the quality of life for autistic people?" We wouldn't lose anything by that paradigm shift. We'd still be searching for ways to help autistic people communicate, stop dangerous and self-injurious behaviors, and make it easier for autistic people to have friends.

But the current bias in treatment --- which measures progress by how non-autistic a person looks --- would be taken away. Instead of trying to make autistic people normal, society should be asking us what we need to be happy.

*Partly because I can speak, and thus don't need to spend a lot of time pondering AAC, but mostly because I am kind of a technophobe and don't use a mobile computer; I don't always grasp everything they're capable of doing.