Patternicity.

It’s a term that refers to “the tendency to find meaningful patterns in meaningless noise,” as noted by Michael Shermer in the November Scientific American:

Traditionally, scientists have treated patternicity as an error in cognition. A type I error, or a false positive, is believing something is real when it is not (finding a nonexistent pattern). A type II error, or a false negative, is not believing something is real when it is (not recognizing a real pattern—call it “apatternicity”).

However, as Shermer notes, we don’t have a “Baloney Detection Network in the brain to distinguish between true and false patterns”—-patternicity does seem to be at work when it comes to theories of autism causation. There’s no doubt that some believe that a vaccine really caused their child to be come autistic (a “type I error, or a false positive”), and, too, there seem to be many who don’t believe that there really is evidence refuting a vaccine-autism link (and who do not recognize a real pattern—who are exhibiting “appatternicity”). Shermer cites a paper in the the October Proceedings of the Royal Society B “The Evolution of Superstitious and Superstition-like Behaviour,” by Harvard University biologist Kevin R. Foster and University of Helsinki biologist Hanna Kokko. They draw on evolutionary biology to demonstrate that

whenever the cost of believing a false pattern is real is less than the cost of not believing a real pattern, natural selection will favor patternicity.

Belief in the false pattern of “vaccines cause autism” persists because the “cost” of believing this is more readily grasped, you might say, requires less of certain efforts, than the alternative. There’s a deep-set tendency in us to find, to have meaning, in whatever the world presents to us; to be superstitious (if not a bit paranoid); to see causal associations just because something happens after something else; to assign cause to effect incorrectly.

Lest this seem merely to be yet another “vaccines don’t cause autism” post, I’m tacking on an account of our Thanksgiving and, yes, patternicity.

Patternicity seems another way to explain Charlie’s need to create order, in placing his shoes with the socks inside them perfectly lined up together; in packing his lunch box with a Capri Sun, 4 small plastic containers, and bags of carrots and grapes when he gets home from school; in arranging his CDs on the floor of his room just so. When Charlie was younger, if we so much as moved one shoe or colored block, his agitation was broadcast far, wide, and loudly. These days he’s easy-going if anything gets moved and sometimes leaves it askew, sometimes restores his order.

Charlie having some extra days off from school, I’ve figured that his need for order—for ways to mark and structure the days—increases. He spent a lot of Thursday (aside from loafing on the couch and going on an hour-long bike ride with Jim on a cold afternoon) in his room, trying to stick all the CDs into his old paper pumpkin trick-or-treat bag. There are way too many CDs to fit into the bag and Charlie did not let this deter him from trying to cram them all in with the result that that bag kept splitting and, in the midst of pumpkin pie baking and general Thanksgiving food preparations, I heard the cry of “I need help!” a couple of times.

The pumpkin bag was literally bursting at its seams when I went into Charlie’s room. With three kinds of tape—Scotch, masking, and duct—I tried to patch together the ripped side and the jagged places where CD corners had poked through the candy corn design. Charlie watched me intently and occasionally offered very long pieces of Scotch tape that he’d cut with scissors. At one point, I tried to tape a piece of a brown paper shopping bag onto the pumpkin bag, to make it bigger so all the CDs would actually fit.

“No, no,” was Charlie’s immediate response at my attempt to graft a piece of one bag onto another. Well, of course: What does a piece of brown paper bag have to do with an increasingly dilapidated paper pumpkin trick or treat bag? To tape one onto the other would be to disrupt the order of things—to upset the pattern—-and the cost was too high.

After I’d taped the bag together, I returned to Thanksgiving dinner preparations (now why is it that Americans feel a need to eat a specific menu of turkey, potatoes, cranberry sauce, pumpkin pie?) and Charlie returned to his CD-ordering-and-reordering. When we called Charlie to eat the turkey, we heard “help, fix”: When I went into his room, I beheld the pumpkin bag, so recently, carefully, taped back to wholeness, packed full of CDs with one side ripped open and flapping around.

Apparently there’s a new order to understand here.

Tomorrow, August 7th, from 11 am to 3 pm EST, there will be a meeting of the Meeting of the Interagency Autism Coordinating Committee (IACC) Autism Strategic Plan Implementation Workgroup. The purpose of the meeting is to discuss budgetary requirements for the IACC Strategic Plan for Autism Spectrum Disorders (ASD) Research; workgroup findings will be forwarded to the IACC for consideration and discussion at the next committee meeting on November 21, 2008. You can listen in to the workgroup meeting through a conference call phone number and a web presentation tool on the Internet.

Click this link to join the Webinar:
https://www1.gotomeeting.com/register/921061447 [(Please note this information has been corrected, thanks to Regan]

Or, call this conference call phone number: (888) 455-2920
Access code: 3857872.

Some aspects of autism do run in families, according to a new study about how parents of autistic children process facial expressions. As noted in today’s Science Daily, neuroscientist Ralph Adolphs of the California Institute of Technology and psychiatrist Joe Piven at the University of North Carolina at Chapel Hill studied 42 parents of autistic children and found that some of the parents evaluated facial expressions in ways similar to autistic individuals. 15 of the parents were classified as “aloof”—not preferring interactions with others or having “few close friendships involving sharing and mutual support”— according to psychological testing.

The parents participated in an experiment that measured how they make use of the face to judge emotions. The subjects were shown images depicting facial expressions of emotion that were digitally filtered so that only certain regions of the face were discernible–the left eye, for example, or the mouth. The subjects were then asked to decide as quickly as possible if the emotion depicted was “happy” or “fear.” The part of the face shown, and the size of the revealed area, randomly varied from trial to trial.

An analysis of the subjects’ correct responses revealed that “aloof” parents relied much more heavily on the mouth to recognize emotion than they did on the eyes, as compared to nonaloof parents and, to a greater extent, to a group of parents of children without autism. Prior studies by Adolphs and his colleagues have shown that humans normally evaluate emotions by looking at the eyes–but studies by Adolphs and Piven have shown that individuals with autism do not.

“We found that some parents who have a child with autism process face information in a subtly, but clearly different way from other parents,” says Adolphs. “This is evidence for the hypothesis that the parents with the autistic child have brains that function somewhat differently as well”–an idea that he and other researchers are currently investigating through brain imaging studies. One area of interest is the amygdala, a region located on either side of the brain in the medial temporal lobe that is known to process information about facial emotions and may have abnormal volume in both autistic individuals and their nonautistic siblings.

Researchers suggest that the study (which is published in Current Biology) may lead to research about genes that are responsible for face-processing.

I am pretty sure I look at people’s eyes—now I will be very conscious of this.

“College is a stupid idea” opines today’s Jezebel; over at The Atlantic, Professor X, a self-described part-time (evenings) adjunct instructor of English at “colleges of last resort,” says:

For many of my students, college was not a goal they spent years preparing for, but a place they landed in. Those I teach don’t come up in the debates about adolescent overachievers and cutthroat college admissions. Mine are the students whose applications show indifferent grades and have blank spaces where the extracurricular activities would go.

Full disclosure: I’m a college professor at a small, very urban college that isn’t ranked too highly in the likes of U.S. News & World Report. As far as what I remember about college and my professors: I was actually talking to one of my professors from college (at the school where I went to college) Thursday morning. So—in view of the back-and-forths here about conflicts of interest and biases—-just wanted to come clean on that.

Anyways, the real point of this post is to note one college student, Emily Beshlian, who attends Creighton University in Nebraska and is majoring in biology. The story is entitled Autistic Girl Overcomes Serious Struggles, Attends College:

Beshlian is in college to learn, but there’s also the sense that she’s teaching in her own way.

“No matter who they are, where they are, the color of their skin, hair, whatever, everybody is unique,” she said.

She hopes to work as a biologist someday.

“She doesn’t belong in an institution. She doesn’t belong in a group home. I hope to educate her in a field she thrives in,” [her mother, Cathy] Bruno said.

Bruno said she didn’t know her daughter’s potential, but she’s helping the girl discover her unlimited abilities through persistence and patience.

Kudos! ——Beshlian’s story reminds me of what it’s all about.

Today, April 21st, from 11 am to 6 pm EST, there will be a meeting of the Strategic Planning Workgroup formed by the Interagency Autism Coordinating Committee (IACC). You can “attend” the workgroup meeting through a conference call phone number and a web presentation tool on the Internet.

Click this link to join the Webinar:
https://www1.gotomeeting.com/join/630812808/106536587
Webinar ID: 630-812-808

Or, call this conference call phone number: (641) 715-3222
Access code: 693-119-10.

More details about the meeting here.

The Interagency Autism Coordinating Committee (IACC) coordinates efforts to research, educate, and screen for autism with the Department of Health and Human Services (go here for more information on the IACC).

On Monday, April 21st from 11 am to 6 pm EST, there will be a meeting of the Strategic Planning Workgroup formed by the IACC. Workgroup members will review the current funding for research on autism, as well as proposed research initiatives and resources, and will discuss and make recommendations on what research initiatives to prioritize for the IACC’s strategic plan for ASD research.

You can “attend” the workgroup meeting through a conference call phone number and a web presentation tool on the Internet. Members of the public who participate using the conference call phone number will be able to listen to the meeting but will not be heard; members of the public who participate through the web presentation tool may have the to submit written comments during the workgroup meeting (submitted comments will be reviewed after the meeting).

To register for the meeting, go to this link:

https://www1.gotomeeting.com/register/630812808

The conference call phone number is (641) 715-3222, access code 693-119-10.

If you plan to use these electronic services and need special assistance, such as captioning of the conference call or other reasonable accommodations, should submit a request at least seven days prior to the meeting to Tanya Pryor. Some more details at One Dad’s Opinion.

And, to review the autism spectrum disorder research portfolio of the NIH, go here.

Three and possibly four autistic children with different mothers have all been liked to the same sperm donor, “Donor X.” CNN.com interviewed one of the mothers, Gwenyth Jackaway, whose 5 1/2 year old son Dylan is autistic. Jackaway is single and had always wanted to have a child, so she contacted contacted California Cryobank, which is one of the largest sperm donor banks in the country. Dylan was diagnosed at the age of 2.

Through a Web site called Donor Sibling Registry, she reached out to other women who used Donor X. She found six families who had used the same donor.

Two years ago, she visited Theresa Pergola in the New York area; she had given birth to triplets using sperm from Donor X. Just minutes into their meeting, Jackaway noticed Pergola’s son, Joseph, 2, exhibiting some of the same behavior as her son.

“He was walking on his toes; he was flapping his hands. There seemed to be eye contact issues,” recalled Jackaway, who immediately suggested screening Joseph for autism.

“She told me that she saw characteristics of autism, and it was very upsetting to me at that time,” Pergola said. “I didn’t know what to expect from that point on. I know I was scared, and she was there to let me know that it was going to be OK.”

Pergola says she was afraid because she had an image of autism in her head and believed her son would be “in the corner and rocking and not talking.”

She says Jackaway reassured her that wouldn’t be the case.

One month later, a test confirmed what Pergola already knew: Joseph was autistic. The diagnosis brought her to tears, and now these two women whose sons share a father were immediately connected by another bond: autism.

Further proof that there is something genetic about autism?

In any event, I see Jackaway’s and Pergola’s experiences as a sign of the small worldness of autism: My husband Jim has met Jackaway (Jim, like Jackaway, is a professor at Fordham University in New York). We’re more connected than we realize.

Small world in need of revision

After their now-7-year-old son Ryan was diagnosed with autism 5 years ago, Lorri and Dan Unumb “they sold their house, downsized and sacrificed to cover costs,” an April 1st CNN story reports. Intensive behavior therapy for Ryan costs between $70,000 and $80,000 a year which is lawyer and law professor Lorri Unumb’s “entire salary.” The Unumbs attribute Ryan’s progress to all the therapy he has received. To help other families who could not afford the intensive therapy that Ryan has had, Lorri Unumb

…wrote a bill, recruited other parents to help her lobby state legislators, and two years later, got the bill passed. Known as Ryan’s Bill, it will go into effect as Ryan’s Law in July.

Ryan’s Law mandates that insurance companies provide up to $50,000 a year for behavioral therapy up to the age of 16. It also prohibits insurers from refusing other medical care to children because of their autism. It doesn’t, however, apply to people or companies who are self-insured, such as the Unumbs.

Unumb has been nominated for the Post and Courier’s Award for Public Service.

Behavior therapy has not been covered in the past because insurance companies have seen it as an “educational measure, not a medical one,” as indicated in other comments in the CNN storyfrom Susan Pisano of America’s Health Insurance Plans, a Washington-based association that represents health insurers:

“Traditionally those services have been provided through early intervention programs for children in the 0-3 age group, and by schools for children who are older.”

Pisano says the real issue is one of public policy. “We’re seeing around the country, as the number of children along the autism spectrum is increasing and as budgets are being cut back, we see a move to transfer responsibility for some of the services [from the government] to the health care system.”

But many, if not most, public school districts do not (and perhaps cannot) provide the types of services that parents seek. My son has received plenty of “watered down” therapy and teaching in public school programs who said they knew what they were doing (and clearly did not), and who were strapped for resources and trained staff. With only teaching from public school programs and without the kind of therapy that he responded to best—most privately paid for, with a lot of help from generous relatives—I don’t think my son would be doing as well as he is.

An issue alluded to by Pisano is: What is autism? How is it defined? That is, is autism a medical condition? And if it is, how does one argue that educational therapies can be considered “treatment”? Behavior therapy does not cure a child from autism but it can teach a child many skills.

By way of comparison: Families with a child with anorexia nervosa have faced similar battles with insurance companies to provide treatment. Anorexia is a serious, potentially fatal eating disorder and can require years of treatment. A 2006 story in Newsweek noted that it is precisely how anorexia is defined and understood—as a biological disorder (and more research points to genetic causes for anorexia) or (as the insurance companies would prefer to define it) as one that is caused by “environmental” factors—-that has been a crucial issue in getting insurance coverage for treatment.

Beyond the interpretation of the law, Blue Cross spokesman Thomas Rubino says that while there have been “a number of studies over the years that point to environmental and other factors [as causes of anorexia], there are no studies that have conclusively proven that [anorexia nervosa] is a biologically-based mental illness.”

Leading experts in the field—and even the federal government—however, clearly counter that claim. In a letter to the National Eating Disorders Association last month, Thomas Insel, the director of the National Institute of Mental Health, states that “anorexia nervosa is a brain disease” and while its “symptoms are behavioral” the illness “has a biological core.” The NIMH Web site also lists numerous studies that attest to that statement.

Similarly, there is currently no biological test for autism, which is diagnosed based on behaviors. And, as in treatment for eating disorders, there is a lot that families can do to help their children to get better, and there’s a huge need to make this known.

The April 1st CNN Money.com reviews the “recent brouhaha about 9-year-old Hannah Poling,” whose family received a settlement under the federal government’s Vaccine Injury Compensation Program “based on their claim that childhood vaccinations aggravated a rare metabolic disorder in Hannah, triggering autism symptoms.” Writer David Stipp notes that, in a 2006 survey, 54% of families claimed that vaccines caused their children to become autistic and comments on how proponents of such a view have “hailed the decision as unprecedented support” that vaccines or something in vaccines can be linked to autism and to rising autism rates, in despite of more and more scientific evidence that dispute an autism-mercury link. Herein lies, Stipp writes, “one of the great ironies surrounding autism”:

While anti-vaccine groups and thousands of anxious parents are fixated on a single environmental factor - vaccines - as a possible cause of autism, most of the exciting insights on its causes in recent years have come from the study of its complex genetic underpinnings.

Stipp highlights a number of recent findings about the genetics of autism, such as research on spontaneous or de novo mutations; disruptions in the gene contactin 4; CNTNAP2 as an autism susceptibility gene; and Chromosome 16. Of the last-mentioned, Stipp writes:

Why would genes linked to autism be so mutation-prone?

Consider a mutation on chromosome 16 recently tied to autism. The glitch is in a DNA region containing so-called “morpheus” genes, which changed very rapidly as evolution produced ever brainier apes. The genes may well help shape cognitive capacities specific to apes and humans, including ones affected by autism.

Since fast mutation goes hand in hand with fast evolution, it’s likely that the new autism-linked gene lies in a DNA “hotspot” prone to spontaneous mutation. In short, the same phenomenon that helped to rapidly evolve our braininess may contribute to autism.[my emphasis]

For all geneticists’ excitement about such discoveries, few if any of them rule out environmental contributors to autism, such as exposure to certain drugs, chemicals or infections during pregnancy. As Hannah Poling’s case suggests, environmental factors may conspire with predisposing genes to bring on autism.

But pinpointing the culprits among the tens of thousands of possible environmental factors - everything from air pollutants to ultrasound examinations during pregnancy to multiple immunizations given to kids all at once - is a monumental problem that could take decades to solve with traditional human studies. Parents of autistic children can’t wait that long.

Both “genetics/genomics” and “environmental influences and gene X environment interplay” are among the subcategories of research on “risk factors” in the NIH’s Autism Spectrum Disorder Research Portfolio. Genetics/genomics research has $20,670,059 in funding and $6,672,090 for research environmental influences and gene X environment interplay: Researchers are finding out about more and more about what genes can be linked to autism, but these efforts routinely receive less interest among the media and among some autism organizations (including some of those who have kept discussion about the case of Hannah Poling in circulation).

As Paul A. Offit, chief of the infectious diseases division of the Children’s Hospital of Philadelphia, wrote yesterday in the New York Times about the about the “damage already done” by the decision in the Poling case, now “more autism research money may be steered toward vaccines and away from more promising leads.” Certainly the excessive attention given to the issue of vaccines regularly threatens to overshadow the ever-pressing and present need to provide the best services, supports, and education for autistic children and adults.

While some worry about how a vaccine might cause autism in a child who is “not yet” autistic, I’m thinking, scheming, strategizing to the day when I won’t be able to drive Charlie to the grocery store and explain to him why we only need to buy one bag of frozen French fries; when Jim and I won’t be able to take him on walking treks in Brooklyn and Manhattan; when, after a hectic day that started at 7.45am, he started screaming out of nowhere and I said “sometimes it’s just tough” and he pulled on his pajamas and lay moaning on his bed and I rubbed his back until he told me “bye mom” and I went out and after five minutes, heard him talking about McDonalds happily to himself; when we won’t be able to explain to the doctors how he responded to this or that medication. But what if there were a test that could determine what medications would help him without the slow and messy process of trying him on one, noting reactions, seeing things that were not desired occur, and weaning him off on medication before trying the next one? (Charlie can talk, but is not yet able to verbally explain how he feels.)

My son Charlie is not autistic because of a vaccine or anything in a vaccine. He’s done well because he’s had a lot of education since the time he was just two turning two (Charlie was diagnosed shortly after his second birthday; in retrospect—he had long before had subtle delays in his development.) He’ll do well because, or rather if, he continues to have more education and as more people—teachers and therapists—-understand that he’s not a damaged child, he’s a kid with a lot of needs and different ones at that.

And I guess this would be my goal for Autism Awareness Month, just to communicate this message: Charlie’s perfect and it’s my job—my daily task—to try to understand him and to help him best communicate about himself, in whatever ways.

It’s April 1st and the start of “Autism Awareness Month”: There’ll be plenty in the news about autism and also appeals to support research—and what kind of research, in particular?

Last year (FY 2007), the National Institutes of Health (NIH) devoted $127 million to research autism spectrum disorders through “grants, contracts, research projects conducted as part of the NIH Intramural Research Program, and other mechanisms of support.” In addition, NIH invested $3.9 million in the development of the National Database for Autism Research (NDAR). In FY 2006, $108 million was devoted to research on ASD’s.

By way of comparison, in FY 2007, $107 million was devoted by the NIH to research on ADHD; $16 million was devoted to research on Cerebral Palsy; $16 million was devoted to research on Down Syndrome; $105 million to epilepsy.

You can go here to see the NIH Autism Spectrum Disorder Research Portfolio:

• FY 2007 NIH ASD Research Portfolio – Summary by Research Area (PDF file, 2 pages)
• FY 2007 NIH ASD Research Portfolio – Detailed Listing of Research Activities (PDF file, 10 pages)

The NIH-funded ASD research activities are categorized into five broad research areas, with each area further divided into subcategories:

• Research Area: Biology
  Subcategories: Clinical Neuroscience, Basic Neuroscience, and Biological Systems
• Research Area: Treatment
  Subcategories: Psychopharmacology, Biomedical, Behavioral/Psychosocial, Services Research, and Biomarkers for Treatment Response
• Research Area: Diagnosis
  Subcategories: Instrument Development, Early Identification, Characterization, Incidence/Prevalence
• Research Area: Risk Factors
  Subcategories: Genetics/Genomics, Environmental Influences and Gene x Environment Interplay, Mechanisms and Model Systems of Environmental Influences, and Psychosocial
• Research Area: Other
  Subcategories: Research Resources (e.g., data systems, repositories of biomaterials), Education and Dissemination, and Other

Here’s how much funding was devoted to each category:

• Biology ($36,467,625 ): 29%
• Treatment ($18,179,004): 14%
• Diagnosis ($20,870,709): 16%
• Risk Factors ($28,343,842): 22%
• Other ($22,982,555 ): 18%

Genetics/Genomics received $20,670,059 in funding; many other research areas also received significant funds. Clinical Neuroscience received $22,407,705; Behavioral/Psychosocial research received $10,275,206; Environmental Influences and Gene X Environment Interplay received $6,672,090; Education and Dissemination received $4,149,842.

The full list of studies is worth a careful review: Studies funded included one on fathers as in-home trainers of autistic children by Jennifer Elder of the University of Florida; on mercury-induced immune dysfunction on autism spectrum disorders by Ellen Silbergeld of Johns Hopkins University; and on interdisciplinary training for autism researchers by Sally Rogers of the University of California-Davis.