Care of special needs adults in post-employment America

The Dow is doing very well, though some expect that to change shortly. For most Americans, however, the Great Recession grinds on. The percent of employed adult Americans (employment-population ratio) is now back to where it was in 1976, when most women weren't in the workforce. The annual incomes of the bottom 90% of US families has been flat since 1973.

Against this, we see about 50 million Americans with a disability and 24 million with a severe disability. Looking forward, barring US adoption of Canada's brilliant solution, intractable American demographics means fewer workers supporting more disabled persons -- even as those workers are faced with decreasing employment options and stagnant or falling wages.

So it's not surprising that societal care for the weak is being withdrawn ...

When Children With Autism Become Adults - Goehner 4/13/11 - NYTimes

... As the explosion of children who were found to have autism in the 1990s begins to transition from the school to the adult system, experts caution about the coming wave.

“We estimate there are going to be half a million children with autism in the next 10 years who will become adults,” said Peter Bell, executive vice president for programs and services of the advocacy group Autism Speaks.

Services for adults with autism exist, but unlike school services, they are not mandated, and there are fewer of them. Combined with shrinking government budgets, the challenges are daunting.

“We are facing a crisis of money and work force,” said Nancy Thaler, executive director of the National Association of State Directors of Developmental Disabilities Services. “The cohort of people who will need services — including aging baby boomers — is growing much faster than the cohort of working-age adults that provide care.”

To help parents navigate this difficult journey, in January Autism Speaks introduced a free Transition Tool Kit for parents and their adolescent children with autism. The kit includes information about such critical issues as community life, housing, employment and developing self-advocacy skills...

... Many young adults with autism have transitioned into large residential systems, whether group homes or institutions, offering round-the-clock services. But waiting lists can be long. And increasingly, in an effort to stem costs, states are moving away from the group home model into family-based care, a trend that started about 10 years ago.

... Nationwide, 59 percent of people who receive autism services are living with their families, according to Mr. Lakin.

Living with one’s family may not always be best for a person with autism. Nor is it what many families, who assume their grown child will move into a group home, for example, envision for their future. But options are limited, and given the high demand for out-of-home residential services, Mr. Lakin said, “families really need to think about a longer and more central involvement in their adult child’s life than they have in the past.”

The good news is that many states are providing more support for people with autism who live with their families. They are also giving families greater flexibility and control over budgets with so-called consumer-controlled services, which reimburse families that hire friends or relatives, rather than outside caregivers, for regular care.

Connecticut and Arizona, for example, pay for care provided by family members, a growing trend. Other states, like Pennsylvania, have programs in which contracts are issued for people with autism to live with other families. And Vermont and New Hampshire pioneered a model of providing funding directly to families.

Some families have pooled their own money and entered into cooperatives with other families, a challenge that can take years...

.. Among the most powerful advocates are siblings of those with developmental disabilities. “Sibs have always played a really important role; we just haven’t identified them as sibs,” Mr. Lakin said. “We’ve identified them as agency leaders and social workers occupationally. But the real impulse of their work is that they were a sibling.”

Don Meyer, the founder and director of the Sibling Support Project and the creator of Sibshops, a network of programs for young siblings of children with special needs, said: “Parents need to share their plans for their special-needs child with their typically developing kids. After Mom and Dad are no longer there, it is likely it will be the brothers and sisters who will ensure their sibling leads a dignified life, living and working in the community.”...

It doesn't require a lot of imagination to predict how this will turn out. Among other things, we should expect a return to orphanages (esp. for special needs children) and the return of longterm institutions for the destitute disabled.

This might be a good time to consider the Canadian Solution for immigration. Maybe we should even take a look at where America's trillions are going. Just saying.

What is schizophrenia? Not what we thought.

Some recent results for a study of the genetics of schizophrenia got a lot of press attention. Among other things, the studies are one more indication that the term "schizophrenia", like the term "autism", is obsolete.

First, here's the best of the coverage I read. One came from a blog, the other from the Washington Post. The rest of the coverage, including the NYT and Scientific American, was pretty bad. (Unfortunately Science does not allow public access to articles, I really wish they'd go out of business):

Schizophrenia involves an increased rate of mutations (Ars Technica)

... schizophrenics displayed a high rate (three times the expected level) of genetic mutations at the chromosomal level, where individual genes were either absent, or present multiple times, leading to over-representation. In patients with early-onset schizophrenia, this rate of mutation was four times the expected level.

The genes involved turned out to be important in brain development including neuregulin and glutamatergic signalling, along with ERK/MAPK signaling and genes that are involved in adhesion and synaptic plasticity. Interestingly, the mutations were not common across the schizophrenic patients, instead differing along familial lines...

Schizophrenia Linked to Rare, Often Unique Genetic Glitches (Rick Weiss, Washington Post)

Patients with schizophrenia are three to four times as likely as healthy people to harbor large mutations in genes that control brain development, and many of those glitches are unique to each patient, researchers reported yesterday.

The findings are forcing scientists to rethink the reigning model of how genes and environment conspire to cause the debilitating disease, which affects about 1 percent of the population worldwide.

In part, scientists said, the new view is daunting because it suggests that many people with schizophrenia have their own particular genetic underpinnings.

At the same time, the study shows that new screening techniques can find and differentiate among those various mutations. In the long run that could help doctors choose the best medications for individual schizophrenics and speed the development of drugs tailored to certain patients' needs.

"If the genetics tells us that schizophrenia is really 10 different disorders, then let's have 10 treatments that optimize the outcomes for everyone and not just use the same drugs for everybody," said Thomas Insel, director of the National Institute of Mental Health, which helped fund and conduct the study.

The work also offers evidence that autism shares some genetic roots with schizophrenia.

"Take away schizophrenia's hallucinations and delusions," said Jon McClellan, a child psychiatrist at the University of Washington and a leader of the study, published in yesterday's online issue of the journal Science, "and the symptoms that remain, the lack of social interest and withdrawal, are what we call autism. There is clearly an intersection of the brain systems involved."

... scientists [had concluded] that the mutations contributing to schizophrenia are probably common in the population but have little impact individually, and that only when several occur together is a critical mass of neurological trouble achieved.

The model emerging from the new study is quite different. It says most cases of schizophrenia may be caused by rare genetic glitches that are individually potent.

The turnaround is the result of sophisticated gene scans conducted on 233 schizophrenics, including 83 who got the disease in childhood, a more serious condition. The scans looked for rare stretches of DNA where more than 100,000 "letters" of genetic code were either missing or mistakenly present in duplicate.

About 15 percent of schizophrenics, and 20 percent of those affected in childhood, had such glitches, compared with 5 percent of healthy individuals who were also studied. Yet the glitches, including one previously associated with autism, were different in each person.

Unlike previous scans based on older technology, which could at best find general genomic "neighborhoods" where mutations associated with schizophrenia are present, the new scans pinpointed the individual genes affected...

...The genes implicated are diverse, but many are known to play crucial roles in how the brain gets wired early in life. Normally that process starts with a huge overproduction of neurons, followed by a controlled winnowing that leaves only those that have made proper connections.

"Changes in these genes could bias the way circuits get sculpted out and could perhaps lead to a brain in which signals that would normally get filtered out don't get filtered out," which could interfere with thinking and prompt hallucinations, Insel said.

The delayed onset of the disease can be explained by the fact that some genes and brain connections do not take on central roles until young adulthood, said Jonathan Sebat of Cold Spring Harbor Laboratory, one of the study leaders...

Rick Weiss of the Post did a far better job than anyone else on summarizing these results. The NYT coverage, in particular, was disappointing.

This feels big, but note that that only 15% percent of "schizophrenics" fit this pattern. This is not the whole story, but it's the biggest piece we've gotten so far.

I'll summarize the key implications:

• Schizophrenia is not a disease. It's the name given a fairly large number of unique disorders of brain development that have, among their endpoints, social withdrawal, hallucinations, and fixed beliefs.
• A good number of cases of "autism" and "schizophrenia" are different manifestations of overlapping sets of mutations.
• There may be"no genes for most instances autism and schizophrenia". There are sets of large scale mutations that are similar between close genetic relatives, but similar appearances are resulting from disorders of quite different components of brain development.
• One in twenty seemingly normal people have big, ugly looking mutations that ought to be messing up their brain development. Yet they seem "normal". Seventeen in twenty persons with "schizophrenia" do NOT have these nasty scattered "sledgehammer" mutations. (So called because it's as though something took a sledgehammer to the genome.)
• The age onset of schizophrenia is determined by when the disordered developmental genes are activated. There's a lot of this going on in late teen years. The implication is that the same thing explains why "autism" presents around ages 2-3, and why it can seem to appear fairly suddenly. This may also explain why some conditions seem to improve at other ages. Schizophrenia syndromes often improves in middle age, for example.
• If every person with autism has a somewhat unique disorder, then treatments and prognosis are also unique. This validates the age old practice of asking someone with a cognitive/psychiatric disorder what treatments have worked for relatives.

The puzzle is far from complete, but one part of it has been filled out. We don't know what's causing these scattershot mutations, though a viral infection in very early development is one obvious possibility. I think this picture is also consistent with my earlier speculation that schizophrenia and autism are evolutionary disorders (see also).

Incidentally, Emily reminds me that autism was once considered a childhood variety of schizophrenia.

To me one of the most amazing results of the study is that 1/20 randomly selected health individuals have major derangements of genes responsible for brain development -- yet their brains still work. That's a group I'd really like to study!

See also:

• A mouse model for calcineurin-type Schizophrenia: exciting news indeed

• Regions of rapidly evolving genes: evidence of genetic control of the rate of adaptation and disorders of evolution

• Schizophrenia and Bipolar disorder both have shared pathophysiology?

• Reversing a severe brain disorder in adult mice

• Neuregulin: Monster gene of madness

• Is schizophrenia the price we pay for an evolving brain?

• Schizophrenia and autism: evolutionary disorders?

• Myelin disorders underlie schizophrenia?

• More evidence of hacked wetware: the DARPP-32 gene and schizophrenia

• Schizophrenia and the increased attractiveness of the non-conformist

• The extraordinarily rapid selection and evolution of the human brain

• Autism-like findings in relatives of autistic children and the evolutionary biology of autism

• A mouse model for schizophrenia

• Redefining mental retardation and autism - the revolution ahead

• Very annoying: the diagnostic criteria for Asperger's are not all that useful

Schizophrenia and autism: evolutionary disorders?

I was thinking this morning, as I often do, of brain and mind, evolution, schizophrenia, and autism (more autism related posts), particularly in the context of a recent post about the perplexing prevalence of schizophrenia and a model of autism genetics involving spontaneous mutation, female non-expression, and inheritance in the male.

The pieces of the puzzle seem to fit together. If I were to read the minds of the researchers in these domains, I suspect they're beginning to think of autism and schizophrenia as examples of an entirely new class of illness - "evolutionary disorders". These are a class of disorders that arise in an organ, in this case the brain, that is undergoing rapid evolutionary change with a high mutation rate and a lot of suboptimal experiments.

I used to think that human evolution more or less ended with the invention of fire, at least that's what I recall from my high school essays [1]. Now we know that the human brain and human gut (they're very closely related systems) have undergone major adaptive changes within the past 15,000 years. It's increasingly plausible, but I don't think it's been proven, that these are systems predisposed to high mutation rates [2].

Systems predisposed to high mutation rates are going to produce a lot of "suboptimal" results, and a few significant improvements. This is what may account for the perplexing prevalence of two syndromes, autism and schizophrenia, that share similar traits:

• no obvious adaptive advantages
• common
• ill-defined and probably multiple underlying pathophysiologies
• complex genetic variability -- many different identified mutations and a suspicion that the disorders may arise from interacting protein networks.
  

I wonder if, should we look for them, we would identify similar "evolutionary disorders" in other animals undergoing rapid adaptive changes in some phenotype. Maybe that would explain all those odd-colored squirrels we see ...

[1] I've been fascinated by human evolution forever. Even as a child I didn't care for the traditional eugenics that is increasingly commonplace today, so I then advocated the encouragement of inter-ethnic marriage to dilute "bad" genes -- until we could directly engineer germ cell lines. Hey, it was a long time ago ...

[2] I think the theory here is that mutation rates can be selected for, so when "rapid change" is advantageous there is selection for "genomic creativity" over "genomic conservation". I think that's the mechanism that's supposed to underlie "punctuated equilibrium", but I'm not a biologist. I just write to learn ...

Update 5/6/2010: Yes, they're evolutionary disorders. In 2010 the term "evolutionary disorder" has a lot of hits, but I may have been one of the first users of it in this context.

Autism-like findings in relatives of autistic children and the evolutionary biology of autism

The first degree relatives of autistic children share behavioral and neurologic traits with autistic persons: Be the Best You can Be: Autism-like findings in relatives of autistic children and the evolutionary biology of autism. What does that tell us about the natural history and evolutionary biology of autism?

50 million Neandertals living today

Or 50 million Neandertal equivalents ....

NEANDERTALS LIVE! | john (Neandertal) hawks weblog

... In genetic terms, we can ask, how many times has the average Neandertal-derived gene been replicated in our present gene pool? Those aren't Neandertal individuals -- that is, a forensic anthropologist wouldn't classify them as Neandertals. They're the genetic equivalent.

The answer to this is also simple: In absolute terms, the Neandertals are here around us, yawping from the rooftops.

There are more than five billion people living outside of Africa today. If they are one percent Neandertal, that's the genetic equivalent of fifty million Neandertals walking the Earth around us.

Does that sound minor? If I told you that your average gene would be replicated into fifty million copies in the future, would you be satisfied? Maybe your ambition is greater, but I think the Neandertals have done very well for themselves.

Does this mean that Neandertals belong in our species, Homo sapiens?

Yes.

Interbreeding with fertile offspring in nature. That's the biological species concept.

Dogs look a lot more diverse than modern humans and neandertal humans, and they interbreed happily. We are one with Neandertal. Tell the BBC, Walking with Cavemen needs an epilogue.

Hawks has written a long, excited, essay with the occasional sentence fragments. He's probably been hitting the champagne. Today's Nature articles on the Neandertal genome are a validation of his research and his enthusiasms.

There's more (emphases mine).

... Burbano and colleagues put together a microarray including all the amino acid changes inferred to have happened on the human lineage. They used this to genotype the Neandertal DNA, and show that out of more than 10,000 amino acid changes that happened in human evolution, only 88 of them are shared by humans today but not present in the Neandertals.

That's amazingly few.

Green and colleagues did a similar exercise, except they went looking for "selective sweeps" in the ancestors of today's' humans. ... They identify 212 regions that seem to be new selected genes present in humans and not in Neandertals. This number is probably fairly close to the real number of selected changes in the ancestry of modern humans, because it includes non-coding changes that might have been selected.

Again, that's really a small number. We have roughly 200,000-300,000 years for these to have occurred on the human lineage -- after the inferred population divergence with Neandertals, but early enough that one of these selected genes could reach fixation in the expanding and dispersing human population. That makes roughly one selected substitution per 1000 years.

Which is more or less the rate that we infer by comparing humans and chimpanzees. What this means is simple: The origin of modern humans was nothing special, in adaptive terms. To the extent that we can see adaptive genetic changes, they happened at the basic long-term rate that they happened during the rest of our evolution.

Now from my perspective, this means something even more interesting. In our earlier work, we inferred a recent acceleration of human evolution from living human populations. That is a measure of the number of new selected mutations that have arisen very recently, within the last 40,000 years. And most of those happened within the past 10,000 years.

In that short time period, more than a couple thousand selected changes arose in the different human populations we surveyed. We demonstrated that this was a genuine acceleration, because it is much higher than the rate that could have occurred across human evolution, from the human-chimpanzee ancestor.

What we now know is that this is a genuine acceleration compared to the evolution of modern humans, within the last couple hundred thousand years.

Our recent evolution, after the dispersal of human populations across the world, was much faster than the evolution of Late Pleistocene populations. In adaptive terms, it is really true -- we're more different from early "modern" humans today, than they were from Neandertals. Possibly many times more different.

Now take a look at my recent post on deep history...

... Even after the development of agriculture and writing we see thousand year intervals of relative stasis in China, Egypt and Mesopotamia. How could this be when our fundamental technologies change in decades. Are the minds of modern Egyptians radically different from the minds of only 6,000 years ago? Why? Why do we see this graph at this time in human history?...

Why do we go from steam engines to iPads in a few human lifespans? Why do we have so much schizophrenia and autism? Our brains have been rewired at top speed; accidents are common.

A big day in science, a big day for Darwin, a bad day for creationists. The Neandertals, of course, must have had souls ...

Update: More from Carl Zimmer. When I wrote the above sentence about autism and schizophrenia, much less the original post some years ago, I didn't know this ...

If you believe the difference between humans and Neanderthals is primarily in the way we think, then you may be intrigued by the strongly selected genes that have been linked to the brain. These genes got their links to the brain thanks to the mental disorders that they can help produce when they mutate. For exampe, one gene, called AUTS2, gets its name from its link to autism. Another strongly-selected human gene, NRG3, has been linked to schizophrenia...

So the brain changes that occurred after Neandertal, in the time of deep history, have associations with the disorder of schizophrenia and autism.

In 2007 I wrote: Is schizophrenia the price we pay for an evolving brain? and I speculated that we could consider autism and schizophrenia to be "evolutionary disorders".

Update 10/6/2010: Clearly prescient: Your Mother Was a Neanderthal #4 (Time Warp Trio). Also, Robert Sawyer must be feeling cheerful today. Lastly, do read the whole Hawks essay. There were a lot of hominin-variants roaming the world 50,000 years ago, and they were likely "dynamic" (or at least - kinetic). We need a word with less historic baggage than "breed" to replace "species" in this discussion.

Update 10/7/2010: The Economist has a good summary, with more on what I've been calling evolutionary disorders.

... But an examination of the 20 largest regions that have evolved in this way shows that they include several genes associated with cognitive ability—and whose malfunction causes serious mental problems. The presence of an extra copy of DYRK1A is linked to Down’s syndrome; mutation of NRG3 is linked to schizophrenia; mutations of CADPS2 and AUTS2 are linked to autism. These four genes therefore look like good places to start the search for modern humanity’s essence...

Incidentally, I did a google search on "evolutionary disorders" and the term has been in use for a year or two. I had the earliest hit I saw though!

Zimmer's article has the clearest overview so far, with a balanced review of the scientific debates.

Therapy for severe cognitive and behavioral disorders: A new era

Two stunning results may herald a new era in research, and even therapy, of disorders as diverse as Down's syndrome, schizophrenia, and autism:

• Be the Best You can Be: Reversing the cognitive dysfunction of Down's Syndrome
• Reversing a severe brain disorder in adult mice (murine autism)
  

A year ago I wrote about a deluge of research on autism genetics. Recent mouse models for autism and Down's syndrome are enabling radical new research directions. These models are the equivalents of the early telescopes -- radical new methods to investigate nature.

It's hard not to be carried away with this kind of discovery. We may run into the kind of dead-ends that stymied human gene therapy. If the results are confirmed, however, they will stand as Nobel-quality basic science discoveries.

Thinking about autism

There is truth here  ...

The Autism Wars - NYTimes.com

...The term has become so diffuse in the public mind that people start to see it as a fad,” said Emily Willingham, who is a co-editor of “The Thinking Person’s Guide to Autism.” “If we could identify individual needs based on specific gaps, instead of considering autism itself as a disorder, that would be preferable. We all have our gaps that need work.”...

Practically speaking, however, it will take years to separate services from labels -- even when the label are not terribly useful. The legal and regulatory framework is rigid by design.

General weirdness on the net: ultrasound, autism and satire

This is weird.

On August 7th Yale researchers published an article purporting to show a subtle derangement of neuronal migration in mouse fetuses (feti?) exposed to over 30 minutes of ultrasound.

On August 8th, writing in a disabilities blog I author, I cautiously noted that if one is hunting for a possible explanation of a rise in autism rates in the late 80s, it's worth looking at further experiments in this domain.

On August 19th, Wayne McDonald, wrote a satirical article relating ultrasound to autism and school violence -- inspired by the Yale press release.

On September 1st the Autism Society of America, to their almost immediate embarassment, referenced the ultrasound article in their weekly email newsletter - ASA-Net. (One assumes they are reconsidering their automated clipping service.)

Was there any connection between my August 9th posting and Mr. McDonald's satire? Probably it's merely synchronicity, but the web works in mysterious ways.

The story will be even more peculiar in the (very unlikely) event that there does turn out to be a real connection of some sort.

Treating injured brains with ECT?

In an earlier post tonight, I wrote about how different patterns of brain injury and incomplete repair might characterize traumatic brain injury and neurodevelopmental disorders such as "autism" and the personality disorders. I forgot in that post to note the researchers particular interest in Mr. Walter's prolonged antidepressant therapy. Researchers now think of depression as the clinical manifestation of a sort of brain injury, and recovery from depression is associated with neuronal proliferation (healing) in focal areas of the depressed person's brain. Antidepressants may somehow support or trigger that neuroproliferation.

Hmm. Injury. Healing. Antidpressants. Naturally one thinks of electronvulsive therapy, an old, mysterious, and remarkably effective treatment for severe depression. Does that also cause neuroproliferation? If so, would it have a place in treating traumatic brain injury, autism or personality disorders? (Of course the heyday of ECT, as dramatized in that infamous slander One Flew Over the Cuckoo's Nest, it was used for just about everything.)

This would have occurred to researchers in the field many years ago, so I turned to PubMed. It turns out there's been a lot of rat brain work in the past five years. I couldn't find anything on ECT for traumatic brain injury, just old studies on whether ECT caused brain injury. I bet we'll see some animal studies on this topic within the year. As for ECT in autism -- the question has been asked. I think we'd need to have some reasonable animal models for autism before we could explore that one very much ...

Update 7/4: I was following the wrong path with ECT. This morning I remembered that Medtronic and others are using direct electrode "pacing" of brain tissue to treat Parkinson's Disease and depression. So the future is even closer than I'd guessed. We might end up using diffuse (ECT) or focal (pacing) electrostimulation to facilitate healing of a range of injured brains, including autistic brains. (This all reminds me of Accelerando ...)

Mirror neurons and their alternative uses

When we watch a person doing something, we create an internal simulation of their actions using the same cortical structures required for the observed action. We use that simulation to predict the person's intent and emotional status. So say the "mirror neuronists".

What is the relationship to sleep and dreaming? What is the relationship to the observer effect that some say collapses quantum envelopes? What alternative uses could some brains put that network to? Since dogs are supposed to be uniquely good at anticipating human action, how much of their brains are mirror neurons?

Cells That Read Minds - New York Times
January 10, 2006
By SANDRA BLAKESLEE

... The monkey brain contains a special class of cells, called mirror neurons, that fire when the animal sees or hears an action and when the animal carries out the same action on its own.

...The human brain has multiple mirror neuron systems that specialize in carrying out and understanding not just the actions of others but their intentions, the social meaning of their behavior and their emotions.

The discovery is shaking up numerous scientific disciplines, shifting the understanding of culture, empathy, philosophy, language, imitation, autism and psychotherapy.

Everyday experiences are also being viewed in a new light. Mirror neurons reveal how children learn, why people respond to certain types of sports, dance, music and art, why watching media violence may be harmful and why many men like pornography.

Found in several areas of the brain - including the premotor cortex, the posterior parietal lobe, the superior temporal sulcus and the insula - they [mirror neurons] fire in response to chains of actions linked to intentions.

... "When you see me perform an action - such as picking up a baseball - you automatically simulate the action in your own brain," said Dr. Marco Iacoboni, a neuroscientist at the University of California, Los Angeles, who studies mirror neurons. "Circuits in your brain, which we do not yet entirely understand, inhibit you from moving while you simulate," he said. "But you understand my action because you have in your brain a template for that action based on your own movements.

"When you see me pull my arm back, as if to throw the ball, you also have in your brain a copy of what I am doing and it helps you understand my goal. Because of mirror neurons, you can read my intentions. You know what I am going to do next."

... Language is based on mirror neurons, according to Michael Arbib, a neuroscientist at the University of Southern California. One such system, found in the front of the brain, contains overlapping circuitry for spoken language and sign language. [jf: see also sign language and the evolution of reading]

In an article published in Trends in Neuroscience in March 1998, Dr. Arbib described how complex hand gestures and the complex tongue and lip movements used in making sentences use the same machinery. Autism, some researchers believe, may involve broken mirror neurons. A study published in the Jan. 6 issue of Nature Neuroscience by Mirella Dapretto, a neuroscientist at U.C.L.A., found that while many people with autism can identify an emotional expression, like sadness, on another person's face, or imitate sad looks with their own faces, they do not feel the emotional significance of the imitated emotion. From observing other people, they do not know what it feels like to be sad, angry, disgusted or surprised.

... Nevertheless, a study in the January 2006 issue of Media Psychology found that when children watched violent television programs, mirror neurons, as well as several brain regions involved in aggression were activated, increasing the probability that the children would behave violently. [jf: another recently published functional imaging study has greatly strengthened the connection between observing violence and acting violently]

People who rank high on a scale measuring empathy have particularly active mirror neurons systems, Dr. Keysers said.

... Humiliation appears to be mapped in the brain by the same mechanisms that encode real physical pain, he said...

I'm particularly interested in alternative uses of the mirror neuron subsystem. That system is doing a lot of work at a high metabolic cost. In some humans it could be used to provide alternative functions, sacrificing social prediction. Evolution could allow this as a backup system for brain injury, or as an alternative path in relatively secure social environments. Isaac Newton, one of the great geniuses, was famously rude and unempathic. If gene defects cause widespread problems with neural connectivity (one subtype of "autism"), then could the mirror neuron network be partially repurposed? What about those persons missing a hemisphere who still manage to function well?

Update 1/10/06: Hmm. So in multiple personality disorders, do the mirror neuron subsystems take on a life of their own?

Williams syndrome: infantile colic, dorsal/ventral balance, patterning genes and genetic determinism

The NYT has a long article on Williams syndrome. There's a lot in there, as noted by "bestyoucanbe" (emphases mine):

Be the Best You can Be: Williams syndrome: the NYT Magazine review

Williams syndrome has some features in common with autism, but it is, scientifically, much easier to study. For one thing it's much better defined than autism; persons with "Williams syndrome" resemble one another more more closely than persons with "autism". For another, we have a reasonable understanding of the gene injury involved, and we can expect to match up the gene products with the "phenotype" (behaviors)...

....Williams syndrome is fairly well characterized because of the physics of our chromosomes. The defect involves a patch that is prone to being "wrongly ripped", but the absence is not lethal. It is very likely that some of these genes are injured in other ways, or they vary in other ways. Persons with these variations won't have Williams syndrome, but they will have some characteristics of Williams syndrome. Some of those characteristics will have adaptive advantages, some won't. Something to remember when conversing with a "normal" person who's very talkative, doesn't seem to know when to pause for breath, and isn't very good at abstract thought ...

... There's a lot here. For example, the incidental comment on infantile colic made my eyebrows jump. Does Williams offer clues to one of the most puzzling and common disorders of infancy -- the mysterious disorder we call "colic"?!

The "dorsal" and "vental" regions remind me of the "left" and "right" hemisphere of the 1980s. Just like "left" and "right" hemispheres the "dorsal" areas sound more "male" and the "ventral" sound more female. One wonders how they morph during adolescence. As to dorsal/ventral balance (and SAT score balance) being rare; I suspect it's not so much that a "balance" is rare but rather that there's a comparatively flat normal distribution -- any point in the curve is 'rare'.

The "patterning genes" are also likely to feature in many stories over the next few years, as we learn how they influence talents and preferences. Sociopaths, of course, are of great interest to all of us these days ...

There are a few predictable outcomes of this research in the our evolving world. One is that, like Downs syndrome, Williams syndrome will become very rare over the next twenty years. The other is expectation is that we will learn how to tweak the dorsal/ventral balance; we'll misuse this knowledge somehow.

John McCain is against Reason

McCain is not a rationalist.

Immune to the Facts - The Opinionator - Opinion - New York Times Blog

...“At a town hall meeting Friday in Texas, Sen. John McCain, R-Ariz., declared that ‘there’s strong evidence’ that thimerosal, a mercury-based preservative that was once in many childhood vaccines, is responsible for the increased diagnoses of autism in the U.S. — a position in stark contrast with the view of the medical establishment,” writes Tapper. “McCain was responding to a question from the mother of a boy with autism, who asked about a recent story that the U.S. Court of Federal Claims and the National Vaccine Injury Compensation Program had issued a judgment in favor of an unnamed child whose family claimed regressive encephalopathy and symptoms of autism were caused by thimerosal.”...

I recall McCain also favors teaching creationism in schools.

No big surprise. The GOP has a strong anti-science bias, McCain is their man.

A diversity of minds: are humans less alike than we imagine?

Like everyone else who's worked with autistic children, I have a theory about autism. I have no data and no real expertise, so I'm free to speculate.

First of all, I think it's really not one thing. It's probably several disorders of brain development, largely arising from genetic and intrauterine effects, that manifest with a few common features and many atypical features.

That's not all that interesting, so I'll go further. I also think that what's common in autism is the brain's frantic efforts to adopt to being broken. So one or many things is/are going "wrong" (quotes are important) in brain development, but there are common compensatory mechanisms that still work. The developing brain is breaking and trying to repair itself -- all at the same time. Somethings get repaired well, some don't. Sometimes the result works -- but it works differently.

Temple Grandin's mind works differently. Grandin is a famous interlocutor for autistic persons. She has several books and essays out, including this one: My Mind is a Web Browser: How People with Autism Think. Grandin has since recognized that she's really describing how she thinks, and that not all autistic persons think the same way [1]. The point, however, is that she has an "alien" way to thinking. It doesn't work all that well most of the time, but it is well suited to certain types of problem solving. She is a visualization 'savant' [2], in a way that some autistic persons are numerical 'savants'. She has enough symbolic reasoning and language to be able to translate from her world of visualization to the more common world of language.

Variations in neurodevelopment resulting by "malfunction" and adaptation/healing, yielding diverse minds that function better in some environments, worse in others.

Remind you of anything?

Isn't that how natural selection works?

We think that humans haven't evolved much in the past few hundred thousand years because our bodies seem similar. We are creatures of the brain though. What if there's an adaptive advantage to a "flaky" neurodevelopmental process? Maybe there's a reason we have so many "malformed" brains. It's not only that brains are hard to make, but also that there's a species advantage to having diverse brains and minds being created - even if some individuals bear a heavy price for being maladapted to the common environment.

Perhaps if we truly understood the human mind, we would discover that we are much less alike than we think.


[1] Grandin is nothing if not definite, but she also changes her mind. It's an interesting trait, and very scientific in a way. Overgeneralizing from self to all is a classic autistic trait, and not uncommon in neurotypicals either.
[2] It would be interesting to see how well Grandin could talk to a dolphin, presumably they think in sonar.

Autism and the Corbett blood chemistry study

Be the Best You can Be: Autism and the Corbett blood chemistry study

Applying mass analysis to develop a statistic signature predictive of autism. A novel approach!

Great NYT Review on Autism

Lifting the Veils of Autism, One by One by One

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Very interesting. The NYT has had very good autism coverage.

Regions of rapidly evolving genes: evidence of genetic control of the rate of adaptation and disorders of evolution

About four weeks ago I wrote about the possibility that "autism" and "schizophrenia" might be "disorders of evolution". If the genes that code for brain function are experiencing very high variation levels, and thus rapid adaptation and differentiation (evolution), it's plausible that we'd see a range of disorders related to maladaptive variations.

Back then I thought the post was a bit daring, the sort of thing that might cause some in my vast readership to think I was being a bit eccentric.

Nowadays though, that post seems pretty mainstream:

Mouse study finds hotspots of genome instability (John Timmer)

[Nature 10/28/07] ... The data suggest that certain parts of the genomes are "hotspots" that both undergo change frequently, and produce changes that are well-tolerated by the organism. These hotspots undergo changes up to 10,000 times more frequently than quiet areas of the genome, and can undergo multiple, successive changes. The fact that the organism appears to tolerate these changes isn't due to an absence of genes in the CNVs. In the 18 mentioned above, there were a total of 43 genes, including some involved with reproduction, immunity, and brain function.

There's been an idea floating around for a while that suggests that genomes evolve to the point where they work well with evolution. A genome that, by chance, winds up with genes that are sensitive to dose effects in a region that's stable is more likely to be be inherited. In the opposite case, where different doses of a gene might help an organism adapt to different environments, having that gene located in an unstable area might be selected for. The new data doesn't directly address this proposal. But it does find that there unstable areas of the genome that are likely to undergo major changes within the span of less than 100 years, which seems to be a prerequisite for the proposal to be taken seriously.

It turns out Timmer has at least one other post relating these types of gene rearrangements to autism.

I'm ready to be that within six years medical students will consider a wide variety of neuropsychiatric disorders to be "disorders of evolution". You'll have a jump on those whippersnappers ...

How could we create an evidence-based classification of disorders of the mind?

The software/hardware metaphor is usually considered as misleading as every other model of mind we've come up with.

I don't agree. My guess is it's an unusually good model -- one rooted in the physics of computation. Anything sufficiently complex can compute, which is, souls aside, the same as running a mind...

... in an alternative abstract universe closely related to the one described by the Navier-Stokes equations, it is possible for a body of fluid to form a sort of computer, which can build a self-replicating fluid robot ...

... A central insight of computer science is that, whenever a physical phenomenon is complex enough, it should be possible to use it to build a universal computer ...

Our minds have emerged to run on our desperately hacked and half-broken brains - in hundreds if not tens of thousands of years. In evolutionary terms that's insanely fast (and did it really never happen before?). Minds route around damage and adapt, as much as they can, to both adolescent transformation and adult senescence; they run and run until they slowly fade like a degraded hologram. It's no wonder minds are so diverse.

When that diversity intersects with the peculiar demands of our technocentric world we get "Traits that Reduce Relative Economic Productivity" -- and we get poverty and suffering. We get disease, and so we need names.

We need names because our minds can't reason with pure patterns -- we're not that smart. With names we can do studies, make predictions, select and test treatments.

Names are treacherous though. Once our minds create a category, it frames  our thinking. We choose a path, and it becomes the only path. It might be a good path for a time, but eventually we have to start over. Over the past ten years researchers and psychiatrists have realized that our old "DSM" categories are obsolete.

So how could we start over? One approach, informed by the history of early 20th century medicine, is to classify disorders by underlying physiology. That's where terms like 'connectopathy' come from, and why we try to define mind disorders by gene patterns.

We need to do that, but lately I've wondered if it's the wrong direction. If minds really are somewhat independent of the substrate brain, then we may find that disorders of the substrate only loosely predict the outcomes of the mind. Very similar physiological disorders, for example, might produce disabling delusions in one mind and mere idiosyncrasies in another.

So maybe we need another way to attach labels to patterns of mind. One way to do this would be to create a catalogue of testable traits for things like belief-persistence, anxiety-response, digit-span, trauma-persistence, novelty-seeking, obsessiveness, pattern-formation and the like. My guess is that we could identify 25-50 that would span traits that are currently loosely associated with both normal variation and TRREPs like low IQ, schizophrenia, and autism. Run those tests a range of humanity, then do cluster analysis and name the clusters.

Then start from there.

 See also:

• Be the Best You can Be: Rebooting pyschiatry: time for a new set of disorders (2013)
• Gordon's Notes: The evolutionary history of minds (2008)
• Be the Best You can Be: Redefining mental retardation and autism - the revolution ahead (2006)
• Be the Best You can Be: Very annoying: the diagnostic criteria for Asperger's are not all that useful (2005) - this was part of the body of work that led to retiring the diagnosis of "Asperger's Syndrome"

How long to make the Blacksburg schizophrenia connection?

I've been curious how long it would take the media to make the obvious connection between the Blacksburg disaster and schizophrenia.

As of today, a Google news search has five hits.

If I were running the planet (be afraid), I'd assemble a group to review what policy, educational, and legal changes should be made to improve the recognition and management of psychotic disorders (schizophrenia, major depression, mania, etc) in young adults. The group would be asked to consider management in the context of families, tribes, and cultures that deny the biological reality of psychiatric disorders. The denial group is large, and it includes most American social conservatives.

As ruler of earth, I'd also ask my science czar (I'd have a large science department) to review research on the prevention and management of schizophrenia, and to review the relationships between autism-spectrum disorders and schizophrenia.

I can only hope the worldmind will see things my way, and that the hit count will be higher a week from now.

Update 4/21/07: There's been much more discussion about the schizophrenia (and even autism) connection, including a Slate article that linked to an FBI analysis of the Columbine murders. That's a link worth following, btw.

Ultrasound and the developing brain – lessons from manipulation of mouse neurons

There’s a bit of wing-nuttery on the net about a possible relationship between the widespread use of obstetric ultrasound and an increase in the percentage of children diagnoses with autism (though there’s also been a simultaneous decrease in the percent of children diagnosed with mental retardation).

Sometimes the discussions have even had humorous consequences.

Still, there’s some reason for interest.

Which brings us the use of intermediate intensity ultrasound for altering the brain …

Sound and no fury | The Economist

… William Tyler and his colleagues at Arizona State University..

… knew from experiments done by other groups of researchers that ultrasound can have a physical effect on tissue. Unfortunately, that effect is generally a harmful one. When nerve cells were exposed to it at close range, for example, they heated up and died. Dr Tyler, however, realised that all of the studies he had examined used high-intensity ultrasound. He guessed that lowering the intensity might allow nerve cells to be manipulated without damage.

To test this idea, he and his colleagues placed slices of living mouse brain into an artificial version of cerebrospinal fluid, the liquid that cushions the brain. They then beamed different frequencies of low-intensity ultrasound at the slices and monitored the results using dye molecules that give off light in response to the activity of proteins called ion channels. (An ion channel is a molecule that allows the passage of electrically charged atoms of sodium, potassium, calcium and so on through the outer membrane of a cell.)

The purpose of all this was to coax the cells to release neurotransmitters. These are molecules that carry information from one nerve cell to another. When they arrive, they cause ion channels to open and thus trigger the electrical impulses that pass messages along nerve fibres. When those pulses arrive at the other end of a fibre they, in turn, trigger the release of more neurotransmitters.

Disruption of this system of communication is characteristic of several medical conditions, including Alzheimer’s disease, Parkinson’s disease, depression and epilepsy. Ways of boosting the release of neurotransmitters may thus have therapeutic value. And the ultrasound did indeed boost their release.

How that came about is not absolutely certain, but Dr Tyler thinks the shaking that his ultrasound gave to the cells in question opened up some of their ion channels. The cells were thus fooled into acting as though an impulse had arrived, and released neurotransmitters as a consequence…

So the obvious question is how does the intensity and duration of the ultrasound used in these experiments compare with the intensity of ultrasound used in obstetric scans? After all, “disruption of this system of communication” is also a characteristic of autism.

It feels like it would be wise to do further animal model studies, and to discourage obstetric ultrasound done largely for entertainment purposes rather than to truly guide and manage pregnancy.

Human domestication, the evolution of beauty, and your wisdom tooth extraction

My 16yo is having his wisdom teeth removed tomorrow. Blame it on human domestication.

The Economist explains the process. Domestication, whether it occurs in humans, foxes, or wolves, involves changes to "estradiol and neurotransmitters such as serotonin" (for example). These changes make humans less violent and better care givers and partners -- major survival advantages for a social animal. They also have unexpected side-effects, like shortened muzzles and flattened faces for wolves, foxes, (cows?) and humans.

Since domesticated humans out-compete undomesticated humans, the physiologic markers of domestication become selected for. They being to appear beautiful. Sex selection reinforces the domestication process.

It seems to be ongoing ...

 The evolution of beauty: Face the facts | The Economist:

... People also seem to be more beautiful now than they were in the past—precisely as would be expected if beauty is still evolving...

Which may be why we are becoming less violent.

Of course a shortened muzzle and smaller mandible have side-effects. Teeth in rapidly domesticating animals don't have room to move. Which is good news for orthodontists, and bad news for wisdom teeth.

See also:

• A link between autism and the domestication of humans and dog: "MET gene selection appears to be related to human and canine domestication, including sociability. Variants of it are associated with autism-like behavior."
• The canid domestication of homo sapiens brutalis