Potential test to identify autism in toddlers

This is going to scare hell out of too many moms. They showed movies to a bunch of kids age 14 to 42 months. One side of the screen showed children dancing or doing yoga, and the other side showed a computer screen saver (in their terms, "dynamic social images" and "dynamic geometric patterns) and bounced an infrared light beam off the kids' eye to track what they were looking at.

• 2% of typical  kids preferred to look at the screen saver (1 out of 51)
• 9% of developmentally delayed kids preferred the screen saver
• 40% of kids already diagnosed with autism spectrum disorder preferred the screen saver. They also had a different pattern of eye movements, changing the gaze less often.

I wonder if it's dose related, meaning does the percentage get higher with more severe autism?

But using the figures as given, as a test for autism, this method gives 2% false positives and 60% false negatives. I'd say this falls into the category of interesting to know, and if you run across a kid who gets fixated on the center computer screen saver more than other kids, it would be worthwhile screening the kid for ASD.

Genetics of autism

Pharyngula, at Science Blogs, has an excellent summary of genetic research into autism. The bottom line:

... Autism Spectrum Disorder has many different genetic causes: there isn't one single gene responsible for ASD, but a constellation of hundreds, each with the potential to affect the development of the brain and cause the symptoms of autism. They don't know exactly how each of these genes contributes to the disorder, but they have found that many of them are involved in growth and cell communication and the formation of synapses in the brain.

The bottom line is that there are many different ways to cause the symptoms of autism, and it's a mistake to try to pin it all on single, simple causes. Any hope for amelioration lies in understanding the general functional processes that are disrupted by mutations in various pathways.

The article is well worth reading. In today's EurekAlert, there are four new studies describing new genes associated with autism.

Urine test for autism

I'm not sure what to think about this article in Science Daily. It says researchers have found a chemical signature for autism in urine, leading to a simple test. It says further that

People with autism are also known to suffer from gastrointestinal disorders and they have a different makeup of bacteria in their guts from non-autistic people.

Today's research shows that it is possible to distinguish between autistic and non-autistic children by looking at the by-products of gut bacteria and the body's metabolic processes in the children's urine. The exact biological significance of gastrointestinal disorders in the development of autism is unknown.

Not knowing anything about these researchers (the lead author is head of the Department of Surgery and Cancer at Imperial College London), I associate autism-gut bacteria discussions with Andrew Wakefield, but maybe there's something here. I mean, some researchers now think Pons and Fleisdhmann were onto something with cold fusion, but it's hard to give it a lot of credence because of the association.

But if it's true, then we may be able to diagnose autism at birth and intervene really early.

Another gene for autism

They found another gene variant in autists and mentally impaired patients. In some, it was also found  in a parent, and in others, it was a new mutation. It has to do with how synapses operate. Another step in understanding and then, one day, ameliorating the problems.

Since the allele is associated with retardation and autism (but not necessarily at the same time, since some autists with it are normal intelligence), it brings to mind what I wrote about yesterday, that sometimes it makes sense to categorize mental health problems by their biological symptoms rather than their psychological ones. The subjects in this study could be categorized as autistic and/or retarded, or they could be categorized as having a synapse problem (or something like that). It could also be that the symptoms are related to the part of the brain the allele is expressed in.

Andrew Wakefield banned from practicing medicine

The British doctor whose flawed and ultimately withdrawn paper started the autism-vaccine controversy has been banned from practicing medicine in Britain. He calls it "a bump in the road."

Toward drug treatment for autism

I've talked before about hopeful signs of a treatment for autism. Now some researchers have found a drug that improves communication between nerve cells in mice with a disorder called Phelan-McDermid Syndrome, the symptoms of which they say "fall under the autism spectrum disorder category."

It's not a cure for autism, but it's another hopeful sign.

Mirror neurons are normal in autists

This overturns one of my pet conjectures. Researchers have found that the mirror neuron system in autists functions normally. It was lots of people's pet theory, and there had been some evidence that the system was weak in autists, but:

To further test this influential theory, the researchers asked individuals with autism and a control group to observe and execute different hand movements while being scanned with functional magnetic resonance imaging (fMRI). The fMRI measurements allowed the researchers to infer the strength of neural responses in mirror system areas of each group during movement observation and execution. Their results showed that mirror system areas of individuals with autism not only responded strongly during movement observation, but did so in a movement-selective manner such that different movements exhibited unique neural responses. The mirror system responses of individuals with autism were, therefore, equivalent to those commonly reported (and observed here) for controls.

These results, they conclude, argue strongly against the "dysfunctional mirror system hypothesis of autism" because they show that mirror system areas respond normally in individuals with autism.

That's the way science works. Ya makes yer best guess, and then somebody comes along and proves ya wrong.

Two more autism genes

Variations in two more genes have been associated with autism. These have to do with formation or functioning of synapses. My guess is they will eventually find 5 or 10 or 20 genes in which variations in different combinations cause the various symptoms of Asperger's through autism.

And anybody who still thinks vaccines cause autism is dumb. I was about to say misinformed, but this one is so settled that anyone who still thinks it is dumb, no matter how how many people have seen then naked and no matter much money they are paid to be in movies.

The autistic brain

Lots of imaging studies have been done on the brains of autists, including some showing increased thickness of the visual cortex. This study shows, for the first time, increased thickness of the primary auditory cortex. As one of the authors points out, "(T)he visual and auditory cortical thickness increases may be related to enhanced visual and auditory perception in autism."

This would go some way toward explaining the sensory overload autistic kids seem to experience. It might explain how Temple Grandin sees things other abbatoirists don't.

Is autism contagious?

No, but autism diagnoses are, in a sense.

The Columbia University team looked at data on over 300,000 children born between 1997 and 2003 throughout California. The team found that (C)hildren who live within 250 meters of a child with autism have a 42 percent higher chance of being diagnosed with (autism) in the following year compared with children who do not live near a child with autism. Children who live between 250 meters and 500 meters from a child with autism were 22 percent more likely to be diagnosed. The chances of being diagnosed decrease significantly the farther children live from another child with autism.

The study used several tests to determine whether these results could be explained by a social influence effect, or if environmental toxicants or a virus are to blame. For example, the researchers looked at children who live close to each other, but on opposite sides of school district boundaries. These children are likely exposed to the same environmental conditions, but their parents likely belong to different social networks.

The research shows that the increased chance of diagnosis only exists when parents reside in the same school district. Children who live equally close to a child with autism—but in another school district—were no more likely to be diagnosed with the disorder than children who do not have a neighbor with autism. The results are a strong indication that the proximity effect is a social phenomenon and not the result of environment, Dr. Bearman says. 

The reason, they say, is that most people don't really know about autism, so they don't know to get a screening, unless they live close to someone with an autistic kid, who can tell them what to do and guide them through the system.

This makes intuitive sense. People I hang out with are immersed in kid stuff, and most of them can tell you offhand the symptoms that would lead to a referral for all sorts of conditions, but most parents aren't and can't.

Curing autism

I've said before that I expect to see a cure for autism in the next decade or two. This study suggests a candidate for that cure.

A new discovery raises hope that autism may be more easily diagnosed and that its effects may be more reversible than previously thought. In a new study appearing online in The FASEB Journal (http://www.fasebj.org), scientists have identified a way to detect the disorder using blood and have discovered that drugs which affect the methylation state ("DNA tagging") of genes could reverse autism's effects. This type of drug is already being used in some cancer treatments.

I have a hard time even hoping that it will this easy, but if it turns out to be, then a pretty much lost 1% of the population will be returned to grace. We just have to make sure we don't "cure" too many engineers.

First woman astronaut enters Asperger's Central

The other day I heard a story on NPR about the first woman astronauts, apparently originally broadcast in 2007. They talked about how funny the men in NASA acted. The men didn't seem to understand them or know how to talk to them. I was screaming in the car, "Aspergers!" You just walked into a building full of aeronautical engineers. A lot of these guys are one broken synapse away from autism. Of course, they didn't understand you or know how to talk to you. So put on your big girl panties, and treat them like a special ed class.

Do hospitals cause autism?

A few days ago I posted about ameliorating symptoms of Asperger's by inhaling oxytocin. My partner was talking with a colleague about this yesterday. The colleague recalled that a common way of medically inducing labor inhibits maternal release of oxytocin, and she recalled a story about an acquaintance who (not whom) she knew had had the drugs and then an autistic kid.

It made the colleague wonder. If inhaling oxytocin alleviates symptoms of Aspergers, could a deficit of oxytocin at birth be involved in its cause? It is a stretch but not outlandish to conjecture that one could be related to the other.

If it did turn out to be true, one would have to ask if an increasing tendency in hospitals to induce labor could be related to the observed increase in autism.

I wish I were in a position to offer grant money for all the stuff I'd like to find out.

UPDATE: After I wrote this, I ran across this Nicholas Kristof column about the possibility of environmental toxins causing autism. That's possible, too.

Oxytocin ameliorates autism symptoms

Researchers have been closing in on a relationship between autism and oxytocin, and now some researchers have administered oxytocin to some Aspergers kids and then watched their behavior during ball games and during facial expression recognition tests.

• Under oxytocin, the autistic kids were able to play a game where they had to figure out which  game partner was most cooperative and return a ball to them. Under a placebo, they returned the ball randomly. 
• Under oxytocin, they looked at photographs of faces, looking specifically at the eyes. Under a placebo, they looked away. 

I wonder if you could put oxytocin in an inhaler. It's good for so many things, it would be a commercial hit.

I'm not really serious about that, but I do expect in not too long for there to be a cure for autism. If not oxytocin, something else. There are a lot of really smart people working on this, and there are so many clues, and there's a lot of grant money to let the smart people pursue the clues. If not this decade, then the next.

When does autism start to show?

Researchers have found that the distinctive characteristics of autism (lack of eye contact, smiling, and communicative babbling) show up between 6 and 12 months. The article head says it's a slow decline, but the text called it a rapid decline. Maybe it depends on whether you think the period between 6 months and a year old is a long time or a short one.

The way they found this was by comparing a bunch of kids with older sibs who had already been diagnosed as autistic with some kids who had no risk factors. They used various instruments at 6, 12, 18, 24, and 36 months, counting how many interactions of what types, so they could look back and see how the kids who did develop autism really acted when they were babies.

Previous ways of seeing when autism started to show were to ask parents when kids passed developmental milestones, but parents misremember things like dates when kids do stuff, and looking at old home movies, but parents apparently turn off the camera when the kid starts acting autistic.

This is earlier than we had thought. I'm hopeful this morning. At the rate they're learning about the brain, I wouldn't be surprised if, in the few decades either some epigenetic trigger for autism is found, that we can control, or some gene therapy is developed.

This weekend, I got the ground prepared and my tomatoes planted (instead of blogging), and it's a wonderful day.

Old moms and autism

Another study shows a link between advanced maternal age and an increased risk of the kid having autism. The dad's age didn't matter.

The study found that the incremental risk of having a child with autism increased by 18 percent -- nearly one fifth -- for every five-year increase in the mother's age. A 40-year-old woman's risk of having a child later diagnosed with autism was 50 percent greater than that of a woman between 25 and 29 years old.

And as to why:

One possible clue comes from a 2008 UC Davis study that found some mothers of children with autism had antibodies to fetal brain protein, while none of the mothers of typical children did. Advancing age has been associated with an increase in autoantibody production. Further work investigating advancing age in such findings may be useful, the study authors said. They added that some persistent environmental chemicals accumulate in the body and also may have a role to play in autism, possibly contributing to the apparent effect of parental age.

The study also suggests that epigenetic changes over time "may enable an older parent to transfer a multitude of molecular functional alterations to a child ... thus epigenetics may be involved in the risks contributed by advancing parental age as a result of changes induced by stresses from environmental chemicals, co-morbidity or assistive reproductive therapy."

In short, it's god-awful complicated, and they're working on it.

Lancet retracts autism paper

The original paper linking autism to MMR vaccines has been withdrawn by the journal that published it in 1998. 10 of the 13 original authors had withdrawn from it in 2004. A few days ago, the General Medical Council, Britain's medical regulator, said the study had been performed "in an unethical and irresponsible manner" and with "callous disregard" for the children's best medical interest.

Can we put the autism and vaccine myth to rest now?

Original autism-mercury study "unethical and irresponsible"

Britain's medical regulator says Andrew Wakefield, the doctor who published the original study linking autism and mercury in the MMR shot, did it in "in an unethical and irresponsible manner."

The General Medical Council, Britain's medical regulator, found that Andrew Wakefield acted unethically in the way he collected blood samples from children and in his failure to disclose payments from lawyers representing parents who believed the vaccinations for measles, mumps and rubella -- given as a single shot, referred to as the MMR vaccine -- had hurt their kids.

The regulator also concluded that Wakefield acted with "callous disregard" by conducting invasive tests on children that were not in their best medical interests. ...

Those included taking blood samples from children at his son's birthday party and paying them each about $8, the regulator found. He also performed spinal taps on children at a hospital without due regard for how they might be affected, it said. 

This doesn't impugn the science in his report, only his character. Others have already sufficiently impugned the science.

The evolutionary benefit of schizophrenia

A study described in Science Daily says that a gene that has been linked to schizophrenia and autism reduces the chance of getting some kinds of cancer. The gene is involved in neurodevelopment and has a number of alleles, several of which affected the risk of schizophrenia as well as general intelligence. They did it twice, with different test and control groups, and got the same result.

The clear evolutionary meaning of this is that, in the past, the mass of people with an increased risk of schizophrenia had more surviving babies than those with an increased risk of cancer. It reminds one of the link between sickle-cell anemia and malaria.

Paying for DIR autism treatment, or not

The Eastern Los Angeles County Regional Center will no longer pay for DIR therapy for autistic kids. Developmental, Individual difference, Relationship-based treatment is being cut because they don't have any money, and when they listed the stuff they needed to pay for, DIR came out toward the bottom of their priorities, because it doesn't have any actual evidence that it works. The National Research Council said it was close enough to some therapies that have been shown to be effective that it "could be considered a valid model for treating autism," but that's not the same as a real study on  the actual therapy.

I don't have a dog in this fight. If DIR works, and if the agency is obliged to pay for any treatment that works, then tautologically they should fund this. And we should refuse to pay for treatments that don't work. Sometimes it's clear whether a treatment works or does not, and sometimes the evidence is not yet in.

The agency says they expect to save $4 million a year, but won't the parents who are cut off from DIR just go to another therapy? The regional center's action won't deny treatment, just this particular treatment. So won't the regional center just pay the same $4 million for other kinds of therapies?
So let's somebody do a real study on DIR and find out. Surely some grad student is searching for a dissertation topic that this would be perfect for.

And in the meantime, it's hard to tell parents that this treatment, which they deeply believe will make a difference in their children's lives, is a mirage. You hate to step on their bubbles, but it's equally bad to let them continue a treatment that will fail. We need to find out if it works.