Tuesday, November 30, 2010

Wheelchair Dancer on Gender and Disability in Everyday Interactions

One of the posts highlighed in today's Recommended Reading post on FWD/Forward was this little gem from Wheelchair Dancer, describing a conversation she overheard.

It was between a man and a woman, about the rules of bridge. The man is explaining something very authoritatively, to which the woman, for the most part, listens passively, occasionally asking questions which the man cannot always answer. It becomes apparent that he's just as new to the game as she is --- he's just assumed the role of The Authority in this conversation, even though he's no more an authority on bridge than she is.
As far as the negative power relation between men and women goes, this conversation, sadly, would not stand out were it not for the way in which the woman responds to the answers she gets.

For every thing she doesn't understand right off the bat or simply gets wrong, she claims a disability. So far, she has memory issues, is dyslexic, is losing her mind, is "slow ...". As I listen to her, I suppose that any or all of these things could be true. ... Nonetheless, as the stream of different disabilities continues, I begin to wonder if claims of disability function as a cushion between the painful abruptness of her partner and her desire to do better and earn his acceptance. In other words, the woman may be disabled in all those ways, but in the context of the conversation, disability also serves as an excuse/reason for her "stupidity" in the face of her partner's "brilliance."

Wheelchair Dancer doesn't think it's an accident that the woman's (apparent) disability functions like this --- to diminish her presence, shrink her further and further into the background --- she sees this uncomprehending silence, this unquestioning acceptance of the man's greater expertise, this constant deprecation of her own understanding, as part of the way the woman has chosen to "do disability":
She does disability in the old way, a way in which the value of our diverse minds and bodies is not acknowledged. Her disability is a weakness that separates her from an actively feminist goal of being an equal partner in the conversation and the game.
Rather than stop the conversation and ask the man to go slower, repeat something, or rephrase or elaborate on something until she feels she understands what he's trying to say and can either agree with it or challenge it, she stays quiet, unwilling or unable to ask him to adjust his manner of speaking to her needs. She's shrinking herself, subordinating herself to him, taking part in the conversation either on his terms and at his pace or not at all.

A commenter pointed out that, from the way Wheelchair Dancer described him, the male half of this duo could very well have some communication impairments of his own --- on the "sending" rather than the "receiving" end.

I think they might be right, because there are elements of Wheelchair Dancer's description of the man's conversational and interpersonal style --- his rigidity, his lack of eye contact, the apparent effort with which he speaks --- that are in fact features of a disability I have, which does interfere with my ability to communicate via speech.

But even if that's true, and the man, too, has some communication impairment that's making him have to work very hard even to put his thoughts into words at all --- let alone rearranging and streamlining those words so that they are intelligible to the woman, who seems to have receptive language difficulties --- the man would still be using his disability to silence the woman, to shut her out of equal participation in the discussion.

By dominating the conversation, by taking on the role of The Authority, he's still saying that, whatever impairments he may have, he's the one setting the terms for this interaction.

Also, even if they both have disabilities affecting their ability to communicate, she's the only one who ever references them --- and she only references her own disabilities, and that in a self-deprecating way, not in a way that indicates she's asking the man to accommodate her. Whether the man has a disability of his own or not, he's set himself up as the standard against which she has to measure herself. Does she understand his sentences? If she doesn't, there must be something wrong with her, because they're totally clear to him!

So, still working under this assumption that both participants in this conversation have language difficulties (receptive or expressive), we find that both partners have different ways of "doing" disability, and --- surprise! --- both of them involve the woman shutting up and retreating into the background.

Sunday, November 28, 2010

German Museum Exhibits Works by Neurodiverse Artists

One of my uncles is a professor, and spends part of each year teaching in Moscow. This year, on his return trip, he ended up spending a bit more time than he had anticipated in Germany, which he spent hanging around in Frankfurt.

While he was there he came across this exhibition at an art museum called Schirn Kunsthalle Frankfurt: "World Transformers. The art of the outsiders."

The exhibit features works by people who see the world in unusual ways:
Thinking outside the norm can result in fantastic works. Linked to creative abilities, to mental states that deviate more or less from the "normal," the everyday, Outsider artists reveal the unexpected in their works. Often located on society's margins, they illuminate the frontiers and contradictions of human existence, communicating a profound unease about the relationships between reality and fantasy. They direct our gaze onto the more opaque paths of thinking and offer an occasion to ask fundamental questions.
The artists whose works make up this exhibit come from different countries, and different times: from the 19th century to the present.

Some of them are:

George Widener, an autistic man currently living in Asheville, North Carolina who has a prodigious memory and savant abilities in mathematics, particularly calendar calculations. He taught himself to draw, and has created sprawling, intensely detailed ink drawings of futuristic cities, like this one, "Megalopolis 22" --- --- and this one, "Megalopolis 21":
He also draws these unique numerical portraits of people, making magic squares out of significant dates in their lives. Here, for example, is "Queen Victoria". His calendrical creations aren't solely biographical, either --- he's done squares showing dates in all sorts of other patterns, too, like "Month of Sundays," a sequence of thirty Sundays derived from a thirty-year period in the 23rd century and arranged in order from 1 (June 1, 2200) to 30 (August 30, 2229). The day (of the month --- the day of the week is always Sunday) and the year advance by one in each succeeding square.

Madge Gill, an English visionary artist who lived from 1882 to 1961. She was a Spiritualist, and believed herself guided by a spirit called "Myrninerest" who was the source of her drawings.

The drawings often depict women --- glimpses of women's faces, peeking out from under hats: Other drawings do not have figures in them at all, just geometric shapes and surfaces patterned with checkerboards coming together at odd angles: August Walla, who was born in 1936 and died in 2001, and spent his life from 1983 onward in a community of artists who were also psychiatric patients at the Lower Austrian Psychiatric Hospital in the town of Gugging, near Vienna.
He had a mythology, cosmology and symbolic vocabulary all his own, which he developed and expressed in his paintings.
Here is his room in the Haus der Künstler (Artists' House) where he lived; he painted on every available surface.

Henry Darger, who was institutionalized as a child in 1905, lived a hermit-like life in Chicago, Illinois until he died in 1973. He wrote fantastical stories about seven sisters who are princesses of a rebel (Christian) nation on another planet, fighting against a tyrannical alien species that uses human children as slaves. He was devoutly Catholic, and went to Mass every day, sometimes several times in a day. His visual artworks, beautiful and delicately painted watercolors of children, were illustrations for his stories.

Amanda Forest Vivian has a post from a while ago about him.

There are more artists featured in this exhibit, but I've already spent a whole lot of time hunting down biographies and representative works from these four --- I had wanted to do all the artists named or otherwise represented on the Schirn webpage, with little capsule biographies and an image or two for each one, but that turned out to take a lot longer than I thought it would, and I wanted to have a post that didn't take me days to write for once.

But anyway, these artists are all awesome, some of them are even still living and making money off their art! So I definitely recommend going to this exhibit (which will be open into January) if you're in Frankfurt or can get there easily.

Sunday, November 21, 2010

Beyond Bizarre: Some Highly Speculative Retrodiagnosis

(When you've only got one piece of the puzzle, you can put that piece anywhere you like)

Probably because it's still so poorly understood, autism seems to be something of a lightning rod for off-the-wall ideas.

Some of these crackpot conjectures try to contextualize autism's fairly recent discovery, either by drawing a spurious connection with some other recent historical development (widespread vaccination is a popular one), which is supposed to have given rise to autism in the first place, or by spinning out a putative history for autism predating Leo Kanner's 1943 article defining it.

One of the ways of doing this --- cobbling together a History of Autism Through the Ages, when scientific and medical literature about autism began almost halfway through the last century --- is by looking for traces of autistic traits in the life stories of famous historical figures. This is also a spurious exercise, because there aren't anywhere near enough written records from centuries ago detailing people's (even famous people's) infancy and childhood, and getting someone's developmental history is part of the process of diagnosing autism.

However, even considering that the field of autism --- and especially autism's history --- has a pretty high baseline level of speculation and conjecture, I think this article's thesis still stands out among the most bizarre claims ever made about autism.

The article --- published in the current issue of the Annals of Indian Academy of Neurology --- matches up various characters in the Old Testament of the Bible with the neurological disorders the article's authors think they might've had; one such pairing is their suggestion that Samson may have been autistic:
The book of Judges, in Chapter 13 talks about Manoah and his wife, and the child promised to them by God: the child who is named Samson. The subsequent chapters go on to tell us about Samson's search for a wife, his extraordinary physical powers, which helped him win numerous battles. Various researchers and scholars who have studied the life of Samson have offered Guillain-Barre Syndrome and Myasthenia gravis as possible diagnoses. We would like to offer autism as a possible diagnosis for Samson.

The diagnosis of autism is on the basis of behavioral criteria: qualitative impairments in social and communicative development, with restrictive and repetitive activities and interests. It is written in Judges 13:25 that he had violent movements of the body at times in the camp of Dan between Zorah and Eshtaol. This could have been an instance of recurrent seizure episodes. Two separate studies carried out in New York and Sweden state that the incidence of epilepsy is greater among children with autism than in the general population. However, it must also be stated that the greatest risk factor for epilepsy among autistics were severe mental deficiency with a motor deficit, both of which were not evident in Samson.

One of the earliest incidents recorded from Samson's adult life is the journey to Timnath with his parents where he tears a lion with his bare hands. On his return, he finds a swarm of bees and honey in the carcass of the lion, which he eats, and offers his parents (Judges 14:8-9). Abnormal eating is one of the atypical behaviors noted among children with autism.

[Francesca] Happe states that autistics may exhibit a failure to understand deception (manipulating beliefs) but achieve success on control tasks involving sabotage (manipulating behavior). This may be correlated with the fact that Samson believed his strength lay in his hair, which would be lost if his head were ever shaved (Judges 16:17), and that he succumbed to his wife Delilah's wiles (Judges 16). Throughout Samson's life, it is seen that he performed extraordinary physical feats. In Chapter 14, he tears a lion with his bare hands "as he would have rent a kid" (verse 6); in Chapter 15 he kills 1,000 Philistines with the jawbone of an ass; and in Chapter 16 in his final act, he causes the house in which he was held captive to fall by pushing against two pillars that he was tied to, killing more men than he ever did in his life, and in doing so sacrificing his own life. It is possible that Samson was able to perform these feats as he may have been insensitive to pain, which is occasionally seen among autistics. A study of hospitalized individuals carried out in Sweden had reached the conclusion that individuals with autism or autism spectrum disorders are prone to acts of violence.
So, to summarize, here is their evidence for thinking Samson might have had autism: he ate something weird once, he could be deceived, and he was exceptionally strong and a fearsome warrior. That's a paltry basis for a diagnosis even before we consider the unreliability of the Bible as historical record; it might sometimes describe historical events, but it should really be considered more in the light of myth or legend than of factual record.

Indeed, trying to write history while starting from the premise that everything written in the Bible is literally true often leads to absurdity. Some examples: in his book Bad Astronomy, Philip Plait describes the bizarre, and physically impossible, theories of Immanuel Velikovsky, who sought to prove that the events in the book of Joshua, where Joshua stops the sun in the sky to lengthen the day so that the Israelites would win a battle, could really have happened. Velikovsky's infamous book, Worlds in Collision, proposes that the planet Venus was not formed at the same time as the rest of the solar system, but instead split off from Jupiter much later as a comet, zooming around the inner planets causing havoc until it settled down in its current orbit between Mercury and Earth. One of the things Venus supposedly did in this itinerant stage is to pass by Earth very closely, slowing down the speed of Earth's rotation on --- you guessed it! --- the very day that Joshua was waging this crucial battle and had such dire need of a few hours of extra sunlight.

It would be much easier (not to mention more believable) to read the account of the sun stopping in the sky, and similar impossible events or superhuman deeds described in the Bible, as poetic exaggeration than it would be to try to come up with a physical explanation for every single one of them!

Back to Samson, briefly: even apart from the problems inherent in treating the Bible as a totally objective, accurate source --- look back at the second-to-last paragraph in the quoted passage, where they find evidence of Samson's peculiar eating habits in a story about him dismembering a lion with his bare hands, for Pete's sake! And yet they thought this passage sufficiently true-to-life that they could take even its smallest details as fact? --- the things they choose to highlight as suggestive of autism aren't all that suggestive.
The unusual eating behavior, for instance, that they cite in the episode with the bees and honey in the lion's body? That --- while it is certainly very odd --- deviates from most people's eating behavior in the opposite way that most autistic people's eating habits do. Most of us are very picky eaters, who are grossed out by, or just can't stand, lots of perfectly ordinary foods; very few of us would scoop a handful of bugs out of a rotting corpse and pop them in our mouths!

I'm also extremely skeptical of the idea that mere insensitivity to pain would grant you the kind of superhero-like strength and toughness that are Samson's most salient traits. After all, not being able to feel pain doesn't make you indestructible. You can still break bones, sustain massive tissue and organ damage, and die --- you just won't feel it. Someone who can overpower a thousand (presumably armed) men with just a donkey's jawbone for a weapon has something more going for him than just that.

Neuroskeptic and Autism Jabberwocky also have posts up about this odd little paper.

Friday, November 19, 2010

Fun With Gender Genie

Over at Left Brain/Right Brain, the bloggers and commenters are having fun with J.B. Handley's assertion (at Age of Autism) that LB/RB blogger Sullivan is really Bonnie Offit (wife of Autism's False Prophets author Paul Offit) wearing the cyberspace equivalent of a fake beard.

In this post from yesterday, Kevin Leitch (the primary LB/RB blogger apart from Sullivan) ran samples of both J.B. Handley's and Sullivan's writing through a web-based gender-guessing algorithm called Gender Genie, which prompted many of the commenters to submit some posts of their own for gender analysis.

I thought I would join in the fun myself, but then I had the idea to compare my results by category of post --- is Gender Genie more likely to think me female if I write about some things than if I write about others? --- and realized that reproducing those results would take up a lot more space than a typical blog comment.

So I'm posting it here.

My hypothesis: the more technical posts will be judged male most of the time. Autobiographical posts, literary posts, and probably feminist posts will be judged female most of the time.

Posts about research articles:
"Through a (Brain) Scanner, Darkly" - 1557 words
Female Score: 1004; Male Score: 2112
Gender Genie thinks the author of this passage is ... male!

"Who's That in the Mirror? Autism and the Developing Sense of Self" - 2091 words
Female Score: 3093; Male Score: 3036
Gender Genie thinks the author of this passage is ... female!

"These Are Not the Eternal Verities of Biology - Part II" - 831 words
Female Score: 884; Male Score: 1374
Gender Genie thinks the author of this passage is ... male!

"Fever Dreams: Autism Research and the Changeling Myth" - 1010 words
Female Score: 1311; Male Score: 1520
Gender Genie thinks the author of this passage is ... male!

"Thoughts on the 'Extreme-Male-Brain' Theory of Autism" - 921 words
Female Score: 682; Male Score: 1467
Gender Genie thinks the author of this passage is ... male!

"Autism, Alexithymia, and Empathy" - 1673 words*
Female Score: 1524; Male Score: 2132
Gender Genie thinks the author of this passage is ... male!

"Say What?!" - 1061 words
Female Score: 997; Male Score: 1771
Gender Genie thinks the author of this passage is ... male!

"I Wanna Be Sedated" - 2518 words
Female Score: 2895; Male Score: 3922
Gender Genie thinks the author of this passage is ... male!

"Autism and Genetics: It's Complicated" - 1526 words
Female Score: 1657; Male Score: 2295
Gender Genie thinks the author of this passage is ... male!

Average scores for this type of post: 1485 female; 2181 male
Average post length in this category: 1465 words

Posts about my life:
"Doubly Deviant: On Being Queer and Autistic" - 2497 words
Female Score: 3343; Male Score: 2881
Gender Genie thinks the author of this passage is ... female!

"An Act of Shameless Emotional Exhibitionism" - 1025 words
Female Score: 1841; Male Score: 857
Gender Genie thinks the author of this passage is ... female!

"Gender Variance in Autism: How Much of It Is Just Sensory?" - 1100 words
Female Score: 1317; Male Score: 1647
Gender Genie thinks the author of this passage is ... male!

"A Brief Experiment in Communal Living" - 1129 words
Female Score: 1488; Male Score: 1462
Gender Genie thinks the author of this passage is ... female!

"Addendum" - 716 words
Female Score: 709; Male Score: 958
Gender Genie thinks the author of this passage is ... male!

"Employment Issues in Autism: Finding and Holding a Job" - 792 words
Female Score: 1122; Male Score: 968
Gender Genie thinks the author of this passage is ... female!

"What's It Like to Be You?" - 677 words
Female Score: 660; Male Score: 1040
Gender Genie thinks the author of this passage is ... male!

"Bringing the Doctor-Patient Relationship Into the Bedroom"** - 991 words
Female Score: 1642; Male Score: 1581
Gender Genie thinks the author of this passage is ... female!

Average scores for this type of post: 1515 female; 1424 male
Average post length in this category: 1116 words

Book reviews/literary criticism:
"Totally Unexpected Gender and Disability Awesomeness from Larry Niven" - 1500 words
Female Score: 1844; Male Score: 2266
Gender Genie thinks the author of this passage is ... male!

"In or Out? Using Spatial Metaphors to Describe Autism" - 2459 words
Female Score: 1936; Male Score: 3877
Gender Genie thinks the author of this passage is ... male!

"A Flash-Flood of Feminist Fiction" - 2299 words
Female Score: 2242; Male Score: 3720
Gender Genie thinks the author of this passage is ... male!

"More about Jude the Obscure" - 1423 words
Female Score: 1980; Male Score: 1956
Gender Genie thinks the author of this passage is ... female!

"Autism in the Not-Too-Distant Future: Thoughts on Elizabeth Moon's The Speed of Dark" - 641 words
Female Score: 658; Male Score: 934
Gender Genie thinks the author of this passage is ... male!

"Metaphor at the Expense of Characterization: Autism in Margaret Atwood's Oryx and Crake" - 1166 words
Female Score: 1310; Male Score: 1360
Gender Genie thinks the author of this passage is ... male!

"Comparing Feminist Dystopias" - 1005 words
Female Score: 1053; Male Score: 1417
Gender Genie thinks the author of this passage is ... male!

Average scores for this type of post: 1575 female; 2219 male
Average post length in this category: 1499 words

Posts about feminism:
"Oh No, an Analogy!" - 678 words
Female Score: 537; Male Score: 1145
Gender Genie thinks the author of this passage is ... male!

"But What About the (Aspie) Men??!" - 1504 words
Female Score: 2464; Male Score: 2675
Gender Genie thinks the author of this passage is ... male!

"A Bit More on Reproductive Choice" - 1234 words
Female Score: 1167; Male Score: 1439
Gender Genie thinks the author of this passage is ... male!

"Disability Rights and Bodily Autonomy" - 694 words
Female Score: 1216; Male Score: 842
Gender Genie thinks the author of this passage is ... female!

"Violence Against Disabled Women" - 1660 words
Female Score: 2610; Male Score: 2365
Gender Genie thinks the author of this passage is ... female!

"Where Neurodiversity Meets Feminist Theory (Part III)" - 607 words***
Female Score: 1021; Male Score: 1121
Gender Genie thinks the author of this passage is ... male!

"On Patriarchal Medicine: The Intersection of Feminist Critique and Anti-Vaccine Crackpottery" - 588 words
Female Score: 695; Male Score: 1078
Gender Genie thinks the author of this passage is ... male!

Average scores for this type of post: 1241 female; 1363 male
Average post length in this category: 995 words

Other political/philosophical posts:
"Human Diversity and the Surveillance State" - 606 words
Female Score: 663; Male Score: 860
Gender Genie thinks the author of this passage is ... male!

"More Focus on Compliance: An Addendum to My Last Post" - 518 words
Female Score: 646; Male Score: 840
Gender Genie thinks the author of this passage is ... male!

"A Tale of Two Epidemics" - 677 words
Female Score: 949; Male Score: 1269
Gender Genie thinks the author of this passage is ... male!

"Employment Issues in Autism: Trends" - 770 words
Female Score: 800; Male Score: 1172
Gender Genie thinks the author of this passage is ... male!

"New Concept: Context Disorders" - 465 words
Female Score: 857; Male Score: 808
Gender Genie thinks the author of this passage is ... female!

"Is Bullying a Feature of Our Culture, or a Bug?" - 663 words
Female Score: 1155; Male Score: 1144
Gender Genie thinks the author of this passage is ... female!

Average scores for this type of post: 845 female; 1016 male
Average post length in this category: 617 words

While I've tried to pick posts that are either free of quotations entirely, or have a fairly high proportion of my writing to other people's writing (this ruled out some of the research-article posts that I'm quite proud of, and would otherwise submit as representative of my writing), or were purged of overly long quoted passages, the samples I gave were still not 100% written in my voice. Especially the literary and science-related posts: if you're writing about another piece of writing, whether it's a book or a research article, you're probably going to have to quote it at some point.

I can't tell the extent to which this has biased the gender classification of my posts; with the research-article posts, I'd expect the gender of the lead author not to have much of an effect since research articles are written in such a uniform, dry, trying-to-be-objective style. With the book posts, it turns out all but one of them are judged to be written by someone of the opposite gender of the author whose book I'm reviewing. (The lone exception is the post on Larry Niven's The Integral Trees, which Gender Genie determines was written by a man).

(Also lumped in with those book posts is a more generic literary-type post about the use of spatial metaphors to describe autism; in it, I cite and quote from an article by the philosopher Ian Hacking. The Genie also decided that post was written by a man, but it had a pretty high ratio of my writing to Hacking's writing that I'm less likely to think quoting from him biased that reading than I am to think my liberally quoting Larry Niven's book might've biased the gender-determination of that post).

Something I expected, since I noticed that all of the pronouns seem to read as "feminine" words to Gender Genie, was that my autobiographical posts would tend to be classed as female-written. This turned out to be the case: of the eight posts I chose to run through the program, five came out female and three came out male.

Both my posts about feminism, and my posts about political, philosophical or cultural topics in general were overwhelmingly judged male. I separated out feminism from the other political/theoretical writing to see if Gender Genie seemed to consider content at all; I guess it doesn't.

For the most part, it does seem to think I'm a man, though.

*There is a lengthy quotation near the end of that post that I omitted from the text I sent through Gender Genie, so this figure falls a bit short of the actual length of the post.

**This post could just as easily be considered a literary or feminist post: it's a comparison of a dynamic I observe in my (heterosexual) romantic relationship to similar dynamics in books --- F. Scott Fitzgerald's Tender Is the Night and Charlotte Perkins Gilman's The Yellow Wallpaper --- bookended with a little bit of feminist history/theory. So it has all three elements; I just figured the autobiographical element was most prominent.

***Again, excluding a fairly long quotation.

Thursday, November 18, 2010

Autism-Related Gene Spotlight: CNTNAP2

EXECUTIVE SUMMARY: CNTNAP2 is a large gene near the end of chromosome 7 that encodes a cell-adhesion protein involved in distributing ion channels along axons (the long tails of nerve cells) and in attaching the fatty cells making up the myelin sheath to the surface of the axon. DIsruptions in this gene have been associated with autism, epilepsy, Tourette syndrome and other neurodevelopmental disorders. Variations at certain points within the gene that don't alter or disrupt its expression have also been associated with an increased likelihood of autism.
Where is it?
Chromosome 7, in the 7q35 region (i.e., near the end of the long, lower arm of chromosome 7).
CNTNAP2 is, according to Entrez Gene, one of the largest single genes in the human genome; it's about 2.3 million base pairs long, taking up 1.5% of the total space on chromosome 7.

What does it do?
CNTNAP2 encodes a cell-adhesion protein called contactin-associated protein-like 2 (Caspr2), which is part of a superfamily of adhesion proteins specific to nerve cells called neurexins.

During development, Caspr2 plays an important role in organizing the long tail of the neuron, called the axon. Caspr2 directs certain types of voltage-gated potassium ion channels (i.e., channels that open or close in reponse to changes in membrane potential) to insert themselves into the axon's membrane at specific intervals; it also forms part of the junction between the axon and the fatty glial cells that form the myelin sheath around the axon, which both insulates the axon (like the rubber tubing around a wire insulates the wire) and allows the electrical current to travel faster, in a discontinuous, hopping ("saltatory") manner from node to node along the myelinated axon.

(Image adapted from
To allow the current to travel discontinuously, the fatty cells making up the myelin sheath leave small stretches of axon uncovered at regular intervals. These unmyelinated points are called the nodes of Ranvier, and it is at these nodes that Caspr2 plays its traffic-directing role.
(Node of Ranvier and surrounding regions; taken from Figure 4 in Poliak and Peles, 2003)

Caspr2 sits in the membrane of the axon in its juxtaparanodal region (which means, "the region right next to the region next to the node" in ScienceSpeak), where its cytoplasmic domain (the part of a membrane-spanning protein that's inside the cell) links up with potassium ion channels prior to their insertion in the membrane, and directs them to insert adjacent to the complex of adhesion proteins including Caspr2. This ensures that the potassium channels all cluster together in the juxtaparanodal region, rather than distribute themselves more or less evenly along the axon, as they would do without guidance from the adhesion proteins.
This superabundance of potassium ion channels near the nodes of Ranvier makes the nodes hypersensitive to membrane depolarization (which is mediated by traffic of ions, including potassium, into and out of the cell), which allows an action potential (the "firing" of a neuron that happens once it reaches a certain threshold level of membrane depolarization) to be transmitted from node to node more easily.

This gene may also play a role in organizing the layers of cortical tissue during development.

What mutant versions of this gene have been discovered?

Lots of different ones! Here are (some of) the mutations that have been described so far:

An exchange of genetic material between two chromosomes: 7q35 and 15q26.2, with the breakpoint on chromosome 7 occurring inside CNTNAP2 (in the 11th intron, or noncoding region), and the breakpoint on chromosome 15 occurring in a relatively ill-understood region that's hypothesized to be a gene. This translocation was found in three generations of Old Order Amish, and described in this article in the European Journal of Human Genetics. Depending on whether the translocation was balanced or not (i.e., whether there was any net gain or loss of genetic material), the people having this mutation might be completely healthy and neurotypical, or they might have severe problems and die young.

An autistic woman in Italy was found to be missing a large (12 million base pairs!) chunk of chromosome 7q33-q36; CNTNAP2 is contained within the deleted region.

An autistic boy in the Netherlands was found to have an inversion --- a break in the q arm of one of his copies of chromosome 7 that reversed the sequence of genes on the broken part when it repaired itself --- between regions 7q32.1 and 7q35. Parts of CNTNAP2 --- the promoter region, which is where the enzymes involved in DNA transcription (the first stage of gene expression) attach to the genome and begin transcription, and parts of intron 1 and exon 2, which also contain important regulatory sites --- have been moved to another chromosome entirely: chromosome 1q31.2.

A preschool-aged boy with seizures and autistic traits (but not enough to be diagnosed with an ASD) was found to have an inversion between regions 7q11.22 and 7q35. The break in 7q35 occurs within CNTNAP2, somewhere between exons 10 and 13.

Nine of eighteen Old Order Amish people with developmental disabilities and a childhood-onset form of epilepsy were found to have a deletion of a single nucleotide (#3709) in coding region 22 of CNTNAP2. The deletion was present in both copies of the gene.

A family in which several members (the father and both children) have Tourette syndrome, obsessive-compulsive disorder, or both, were found to have a complex rearrangement of genes on chromosomes 2 and 7, including some swapping of parts of genes between those two chromosomes. Among other things, part of a gene on chromosome 2 is inserted into CNTNAP2, in a noncoding region. The inserted part is very large (12 million bases, six times the size of CNTNAP2 itself).

In a fairly large sample of families including more than one autistic member, a single-nucleotide change --- a substitution of thymine for adenine --- at a position approximately one-quarter of the way between coding regions 2 and 3 of CNTNAP2 (in other words, in an intron, or noncoding region) was found to occur at somewhat higher rates in autistic children than in their nonautistic siblings. This was especially true if the mutation was inherited from the mother.

A study of 185 Han Chinese families found another single-nucleotide variation in a noncoding region of CNTNAP2 that's associated with an increased likelihood of having autism.

A study of families participating in the Autism Genetic Resource Exchange found several single-nucleotide changes near the end of the intron between exons (coding regions) 13 and 14 in CNTNAP2, where the presence of a variant nucleotide at one of four different positions (with variation at one site in particular, designated rs2710102, seeming to drive variation at the other three) was associated with delays in development of speech.

Three people (two of them siblings) who had undergone genetic testing for a separate mutation (in a gene called TCF4, the underexpression of which causes Pitt-Hopkins syndrome) were found to have deletions in CNTNAP2; the two siblings were missing exons 2-9, and the other person was missing exons 5-8, and had another mutation rendering a splice site (a place where various enzymes cut out those parts of a transcribed gene that are not needed in protein synthesis, and then join the remaining fragments back together) potentially invisible to splicing enzymes, which could mean that exon 10, also, has been functionally deleted.

How do these mutations affect protein function?

(Drawing of CNTNAP2 exons and the protein domains they encode taken from Zweier et al., 2009)
A mutation's effect on protein function depends on where it is in the gene. The color-coded map I posted at the top of this section shows what kind of protein domain each coding region of CNTNAP2 encodes, and what role each domain plays in the protein's overall function (to the extent that either of those things is known, which can vary a lot from gene to gene).

For instance, the deletions mentioned in this article --- exons 5-8 in one person, and exons 2-9 in the others --- include a large block of laminin G domains (exons 5-10) and all three of the discoidin-like (DISC) domains near the end of the (exons 2-4). Both of these groups are on the part of Caspr2 that reaches outside the cell, and are involved in binding to other proteins on other cells to join the two cells together. In the nervous system, the two types of cells likeliest to be joined together are neurons and glial cells, during myelination.

Another domain that's important to Caspr2 function is the PDZ-binding domain at the end of the cytoplasmic half of the protein. That domain binds to PDZ domains on potassium channels while they're free in the cytoplasm and guide them to embed in the cell membrane near Caspr2. 

The point mutation described in this article would lead to garbled (or non-)expression of exons 23 and 24, which encode the transmembrane domain (i.e., the part of the protein that is embedded in the cell membrane) and the PDZ-binding domain; absence of those domains from Caspr2 might prevent that protein from clustering the potassium channels near the node of Ranvier.

How common are they?
Most of the mutations described above --- the deletions and translocations --- are very rare, possibly even unique to the individuals or families in whom they were discovered.

However, some of the single-nucleotide polymorphisms (SNPs) --- the alteration of a single nucleotide base --- are fairly common. The polymorphism described in this article, the presence of thymine at a point in a noncoding region of CNTNAP2 where most people have adenine, is thought to occur in 36% of people.

So, while those variant alleles might be somewhat more common in people with autism than in people without it, there will still be lots of people without autism who also have those genotypes. The prevalence of autism being what it is, there are probably a lot more neurotypical people with a given polymorphism than there are autistic (or otherwise non-neurotypical) people.

Database entries for this gene: AutDB, Ensembl, Entrez Gene, GeneCards, Labome.org, Leiden Open Variation Database

Arking, D., Cutler, D., Brune, C., Teslovich, T., West, K., Ikeda, M., Rea, A., Guy, M., Lin, S., & Cook Jr., E. (2008). A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism The American Journal of Human Genetics, 82 (1), 160-164 DOI: 10.1016/j.ajhg.2007.09.015

Bakkaloglu, B., O'Roak, B., Louvi, A., Gupta, A., Abelson, J., Morgan, T., Chawarska, K., Klin, A., Ercan-Sencicek, A., & Stillman, A. (2008). Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders The American Journal of Human Genetics, 82 (1), 165-173 DOI: 10.1016/j.ajhg.2007.09.017

Belloso, J., Bache, I., Guitart, M., Caballin, M., Halgren, C., Kirchhoff, M., Ropers, H., Tommerup, N., & Tümer, Z. (2007). Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome European Journal of Human Genetics, 15 (6), 711-713 DOI: 10.1038/sj.ejhg.5201824

Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, Trimmer JS, Shrager P, & Peles E (1999). Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels. Neuron, 24 (4), 1037-47 PMID: 10624965

Poliak, S., & Peles, E. (2003). The local differentiation of myelinated axons at nodes of Ranvier Nature Reviews Neuroscience, 4 (12), 968-980 DOI: 10.1038/nrn1253

Poot, M., Beyer, V., Schwaab, I., Damatova, N., Slot, R., Prothero, J., Holder, S., & Haaf, T. (2009). Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder neurogenetics, 11 (1), 81-89 DOI: 10.1007/s10048-009-0205-1

ROSSI, E., VERRI, A., PATRICELLI, M., DESTEFANI, V., RICCA, I., VETRO, A., CICCONE, R., GIORDA, R., TONIOLO, D., & MARASCHIO, P. (2008). A 12Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea European Journal of Medical Genetics, 51 (6), 631-638 DOI: 10.1016/j.ejmg.2008.06.010

Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, & Morton DH (2006). Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. The New England journal of medicine, 354 (13), 1370-7 PMID: 16571880

Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA, & Tourette Syndrome Association International Consortium for Genetics (2003). CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics, 82 (1), 1-9 PMID: 12809671

Zweier, C., de Jong, E., Zweier, M., Orrico, A., Ousager, L., Collins, A., Bijlsma, E., Oortveld, M., Ekici, A., & Reis, A. (2009). CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila The American Journal of Human Genetics, 85 (5), 655-666 DOI: 10.1016/j.ajhg.2009.10.004

Tuesday, November 16, 2010

"What Is High Functioning?" Tumblr

Someone (I think it was Amanda Forest Vivian, but I'm not sure) started a Tumblr for the purpose of providing highly specific answers to that question --- what is "high functioning"?

People are encouraged to submit anecdotes about people with developmental disabilities being labeled "high functioning," and what specific thing they think led the person to label them that way.

Some specific examples of things that get people sorted into the "high-functioning" category:

(There are also some less-concrete examples of "high-functioning" stuff like being able to speak fluently, carry on a conversation, not having a "routine" and being "independent.")

Anyone can submit a post; they just have to click the "Submit" link in the sidebar and type in the text of their post, a title, and their name and email address.

I love the idea around this Tumblr blog --- to have one place where people can share all the different things "high-functioning" has been used to mean --- and would submit an anecdote or two of my own if my autobiographical memory weren't only slightly better than Wolverine's. (I know that I've been called "high-functioning" fairly often --- at least once in the context of, "isn't she too high-functioning to be here (at a camp for autistic children)?" --- but cannot remember the details of any of these instances. So I don't think there's anything I could contribute that would be of value to this project, which is too bad).

Wednesday, November 10, 2010

Doubly Deviant: On Being Queer and Autistic

EXECUTIVE SUMMARY: This is a very long, rambly autobiographical post about being bisexual and being autistic: it compares my experiences coming to terms with both of these facts (always knowing about the autism, vs. having to figure out the sexual orientation; and also, doubting the possibility that I could *have* a sexual orientation because I thought autistic people didn't date or have sex, or even want to do either of those things) with those of Amanda Forest Vivian, who is a lesbian, and autistic, and has written about those things at some length at her own blog. I also discuss the ways being autistic has complicated being gay for me --- besides my initial difficulty realizing that what I felt about girls was, in fact, sexual desire, there was also a profound isolation from the larger Gay Community, which I never felt like I could (or would want to) join.

Amanda Forest Vivian has a post from a while ago about this --- being gay (Amanda uses "same-sex attracted", to encompass lesbian, gay, bi-*, poly- and pansexual folk, and also people who don't really fit into any category but "queer"), but also being different in another way (like having a developmental disability) that might make it harder to navigate an LGBTQ** an LGB social scene.

Here's her description of coming out in high school ---

When I was in high school, someone who wasn't my friend said this to my (secret, closeted) friend, who then told me: "Everyone could see that something was different about Amanda, and then when they found out she was gay, they had an answer."

When I was in high school, the word dyke or lesbian was a way to easily quantify all the things about me that didn't seem right. When I was in high school I felt very alone.

When I was in ninth and tenth grade, I actually brought all this on myself by not denying that I was gay or bisexual, and presenting in a masculine way. I felt this was an important thing to do because other kids needed to see that queer people were just regular people. The problem with this idea is, in hindsight, obvious: I am not a regular person. Being openly queer in a heteronormative environment is a noble thing to do, but maybe not if you have anxiety about pretty much everything and have trouble talking to people.

A lot of my coming-out process happened when I was on a lot of medication and overwhelmed by the relationships I was in. By the time I was in eleventh grade, I was more able to clearly see what was going on, and I knew that I'd made a mistake by not being closeted. My school was very small, and some people were genuinely afraid to be friends with me in case someone said they were having sex with me, and I wasn't a person who could charm my way out of this stigma. But my school wasn't violently homophobic and I feel like a more normal person could have made a difference. It would have to be a person who fit in every way, except one.
--- which reminded me a lot of these much older posts by elmindreda and one of the other Amandas whose writing I love, Amanda Baggs, which postulate something called the "difference slot."


[M]any of [the people I spend my time with nowadays], even though they seem superficially informed about basic disability issues, seem to believe in the difference slot.

The basic idea is that each and every person has their difference, and it should be respected. Note the singular form, however. When they learn of my autism, which is usually the first major difference to come up in conversation, they seem to think "oh, so that's her difference". They then proceed to fill in my difference slot in their mental table, and everything is as it should be.

Or so they think.

Then, a little while later, I happen to mention some other thing that makes me different from most other people, and their belief system collides head-on with reality. Usually, it's another one of my disabilities that triggers it. This is when they almost invariably go "..." for a while, only to finish with "you have that too?" In other words, "your difference slot is already filled, and you can't have another one."

Amanda (Baggs):

What I'm writing about is similar [to elmindreda's idea of the "difference slot"], but perhaps from a different angle. A phenomenon I've seen over and over again runs something more like, "Please violate only one stereotype at a time."

This can apply even if you have only one "difference" (be that autism, physical disability, whatever).

If you have several differences, of course, the problem becomes exponentially harder to deal with.

What Amanda Forest Vivian is describing --- being in a very normative environment (hetero- and otherwise) and trying to figure out, and come to terms with, how you deviate from those deeply-entrenched norms (which you do in multiple ways that you either cannot yet identify or are struggling to identify) --- sounds a lot like what elmindreda describes: the first difference you name to other people defines you, and explains Everything That's Weird About You, and people resist learning that there's more to the story than that One Thing That Explains Everything.

When you're very young, that first difference you name might not actually be the difference that's most relevant to your day-to-day life, either, but may simply be the first difference you know how to name. This is especially relevant to people whose differences are either a) internal or invisible, something you have to find out about yourself rather than something that's always been generally known about you or b) disabilities that affect your ability to put things into words, or even recognize all the ways in which you differ from most people. (Cultural differences might also factor into (b) --- if you come from a culture that does not discriminate between X sorts of people and Y sorts of people, and you immigrate into a culture that does, you may find that you don't even know whether you're X or Y, and that makes it difficult for you to navigate a social setting in which lots of important stuff hinges on whether you're X or Y.)

I had almost the opposite experience from Amanda's --- my first difference was my autism, which has been generally known about, and accommodated, and I've been able, to varying degrees, to talk about, for as far back as I can remember. As long as I remember being able to think in terms of "me" and "you" and "them" (which for me happened rather later than for most people, I suspect), I knew that I had a thing called autism which meant I was different from most people. As I grew older, I came to understand how I was different, and to be able to tell other people about it, but I always knew that I was different.

I had a very elastic understanding of this difference of mine, probably because I learned I was autistic before I could have any real idea what "autistic" meant, so I pretty much equated it with "whatever I am," adding on "whatever [other autistic person I meet] is, too".

(I had always had plenty of contact with other autistic children, both older and younger, and I also always had books written by autistic people about their lives on hand, so I never really fell into the "autism is *ONLY* what I experience" trap that some autistic people fall into --- it seems to be the flip side of the "impostor syndrome" that many later-diagnosed autistics have).

So, for me, being queer was the late-manifesting difference that made it harder to quickly and easily account for everything odd about me, and accordingly I had tons of self-doubt when I first started wondering if maybe I was gay.

My relative lack of interest in boys (had one crush in middle school, on a long-haired androgynous-looking boy) as I was going through puberty didn't tell me anything --- after all, I was autistic! By this time, I had come to understand a bit of what "autistic" meant, and one of those things --- communicated mostly by my mom's not thinking it a priority to educate me about sex and relationships --- was that I might never have sexual feelings, or act on them if I did. This was a boon in some ways: I was never assumed to be straight, exactly, and it was never taken for granted that I would marry by age twenty- or thirty-whatever and have x number of children. I was allowed to develop sexually at my own pace, and in my own direction, rather than feeling like I had to fit a mold. But, at the same time, since I wasn't assumed to be a sexual being, I felt like I couldn't really be sure that the things I was feeling were sexual feelings. So maybe I *did* expect to fit a mold, but that mold was asexuality rather than monogamous, married heterosexuality.

Accordingly, I waited to come out until I had clear, unmistakable evidence that I was gay: a really intense, serious crush on a female friend of mine who was bisexual and "out" about it.

Once I was absolutely certain I felt "that way," however, I thought nothing of telling people so if it came up in conversation. (I never lied, or tried to hide it from anybody, but then neither did I feel like I had to go around telling everyone I knew that I was now a lesbian. Either they'd find out sooner or later, or they didn't need to know).

It did surprise me, though, when in my last year of college I ran into a girl who'd been in my high-school graduating class --- whom I hadn't really known all that well; we went to a huge high school and knew each other by sight and by name, but never talked much and weren't friends --- and she told me that she, and a whole group of other people I didn't know or didn't know very well, apparently thought I was probably a lesbian. This surprised me because, as I mentioned, I was only really "out" to my friends --- the people I talked to enough that it eventually came up --- and I had figured I was more or less invisible to the rest of the school. So apparently I differed from whatever my high-school culture considered a "normal girl" enough, and in enough of the right ways, that people would think I must be a lesbian without ever having heard me say it. Either that, or they noticed me sticking around the girl I loved like I was actually glued to her side, and figured I must be on rather more than just "friendly" terms with her*** ...

I was also not the only lesbian, gay or bisexual person at my high school, either, so I had none of the anxiety that Amanda describes about being the Queer Model Citizen who shows everybody that queer people are people just like everybody else. If people needed that lesson, there were lots of people at my school who were better qualified (i.e., more charismatic, more involved, more flamboyantly out) than I was and more eager to do it besides.

Here, from later in the post, is the part of Amanda's story that most closely matched my own:

Even though my school is ssa-positive, most of the people at my school are straight just like most of the people in the world. I have enough friends that I never feel lonely, but I don't belong to a group of friends (partly because I don't like groups), and I know very few ssa people because I don't have stereotypical queer interests.

A few years ago I posted on a lesbian advice forum saying I was depressed and stressed because I wanted to believe I would someday get married and have kids, but that I had never been in a relationship and didn't think I ever would be. People responded telling me that if I was on a date with a girl, I shouldn't tell her I wanted to have kids, because she would think I was creepy. One person went to my livejournal, saw where I went to school, and told me that my school wasn't anyplace to complain about and that I should "stop whining." She provided a list of various social groups and activities that would help me to meet "dykes," including eating in a co-op (which would mean being organized enough to eat at the same time every day, taking up a lot of executive function cooking and cleaning, and constantly interacting with a large group of people I didn't know).

While there are a few differences --- I don't want kids, and I never got depressingly counterproductive advice because I never thought to ask for advice in the first place --- this sort of inability to find other queer women even on a campus with a burgeoning, vibrant queer culture (well, for Kansas anyway --- I went to KU, which, while it might look straitlaced and boring to someone from California, does have a fair amount of gay-themed student activities) is exactly what I experienced at college, too.

I wasn't closeted, and I wasn't isolated in general --- I just needed to socialize on my own terms, one on one with people I met in classes or in the dorms (or, sometimes, at the gym, which was my other main on-campus haunt), which might eventually lead to me joining a group of friends, rather than trying to meet people at huge gatherings of strangers (like a party or student club; I've never been much of a "joiner" because of my tendency to fade into the background and not enjoy myself at group events), so this ruled out my meeting other lesbian and bisexual women through formal channels, like the campus Queers & Allies club or gay-oriented parties and bars. Unfortunately, the informal, one-on-one processes I used to make friends --- and which worked really well in that regard --- never linked me up with any queer women. So I went through college knowing that lesbian and bisexual women were around, but I just wasn't meeting them.

Rather than belong to a lesbian or queer community, I just existed as a lesbian. (I didn't know I was bisexual until later in college). What I had growing up as an autistic person --- personal acquaintance with a number of other autistic children, access to autistic adults' life stories --- I did not have when I was coming out as a lesbian. I knew I liked women, but never met anyone who might reciprocate those feelings.

What compounded my isolation was my total lack of anything resembling gaydar. I really do have the inability to "read" faces, body language, tones of voice etc. that has become a stereotypical characteristic of autism, so I need to be literally told 1) that a given person is gay or bisexual or 2) that a person is attracted to me. I neither flirt nor perceive flirting in another person, which might well have told an unknown number of interested lesbians that I wouldn't welcome their attentions.

So when Amanda says this ---

I used to have a political problem with the way other ssa people behaved. Whenever I thought about it I got so upset I didn't know what to do. The way I saw it, there were two kinds of ssa people:

1. "gay" people (such as people involved in the HRC) who were very normal and wanted to have normal jobs and normal families. They didn't think much about trans people, non-homosexual sexual minorities, or anyone who wasn't normal.

2. "queer" people (such as a lot of people at my school) who were very into not being normal, playing rugby, performance art, co-ops, and so on. Many of them identified as trans but didn't seem to realize that some trans people actually take hormones and get surgery and are poor, and are not students at a liberal arts college who change their pronouns every week.
I felt weird because I wanted to get married but I wasn't normal and I felt like "gay" people wanted to help normal people get married and "queer" people were anti-marriage so neither one included me.

--- I nod because the feeling of not belonging, of not finding what one is looking for in a group, is familiar to me, even if the actual dynamics of gay-identified versus queer-identified groups fall far outside my own experience, which is of near-total**** isolation from other women attracted to women, whatever their chosen label or subculture*****.

*According to Genderbitch, it's actually possible to be bisexual (attracted to people belonging to either of two sexes) without one of the categories you're attracted to being the same as your own. When you consider a broader spectrum than just cis men and cis women --- one that includes trans men, trans women, non-binary trans people, intersex people and people in whatever other sex-and-gender categories there might be --- a bisexual person might be attracted to people in any two of these categories. So not every bisexual person necessarily fits under Amanda's "same-sex-attracted" umbrella, but I do (having so far only been attracted to cis women and cis men) and this post is about Amanda's (who is a cis lesbian) experience and mine.

**Edited to reflect a lesbian trans woman and an aspie's criticism in comments that, since I am talking about cis lesbian/bisexual stuff, I shouldn't use "LGBTQ" because it implies an inclusion of trans people that isn't in the post.

***I wasn't, as a matter of fact. I was in love with her, and told her so repeatedly, but she didn't love me. At least, not in a romantic way. We did come to be pretty good friends, though, even after high school!

****I did meet one other lesbian at college, whom I found nice, and attractive, and would certainly have befriended and quite likely have dated if we had ever met again. We just ran into each other one day, outside the dining hall, started talking, and kept talking for a long time eating lunch together. Then we went our separate ways and never bumped into each other again. She played rugby, and tried to interest me in joining, but I was unsure about how much extra time I could spare for practices --- I always took really heavy courseloads, tried to keep my GPA pretty high, and spent one to two hours in the gym every day. I figured if I did much more, I'd feel like I was stretched too thin. So, while I had good reasons for not wanting to add another commitment, I still feel sad about missing that particular opportunity. :(

*****Had I managed to fall in with the Queer Culture Amanda describes, I would probably have found it a more comfortable fit than she did, since the kind of alternative family structures she says they liked to try to create are just the sort of thing I'm looking for: I need kind of a lot of support, day to day, and don't think any one person could be everything I need and also have a life of hir own. So a poly family actually looks really good to me, and indeed my last relationship did somewhat resemble this.