Your child has autism. Now what?

I write this blog to help other parents and families, but I also write it to record my own notes and ideas. It's a reference for me. Today, while looking for another post, I found an unpublished draft from around 2004-2006. It was an ambitious post - intended to be a guide to parents with a newly diagnosed "autistic" child.

I never got past the introduction and an outline of topics. Rereading it today, I think it's still worth sharing. Some of my thoughts have changed, but I mostly agree with my old comments.

I suppose if I got enough requests I could fill out the topics, but really this could turn into a book I don't have time to write.
--

Our personal experiences mean that we are sometimes asked to do an autism orientation. I'm writing this post as a kind of mini-orientation that I can point people to, as well as using it to index some site references. I'll update it periodically, though most of the changes will be over the next few days. 

Before I begin, I need to state my biases. I write from a skeptical, technical, scientific, evidence-oriented perspective because that's my natural disposition. This means I spend little or no time discussing thimerosal, immunization, very poorly defined syndromes, etc. I have a lot of sympathy and empathy for families who pursue "alternative" therapies, but it's not what we do or write about. That doesn't mean we don't try things that have very limited evidence (such as "sensory integration" treatment), but we have modest expectations, we demand a very low risk of harm, and we look for empirical evidence of benefit. This doesn't always thrill the therapists, but that's tough. 

I think one starting point is this post and the article it links to: Welcome To Alaska. The Wikipedia article on autism, at least for today, isn't too bad. It's likely to be periodically afflicted by strong beliefs that lack evidence, but it should be relatively easy to spot those and read around them. 

The term "autism" is like "dropsy" in the 19th century -- a generic term used because we don't really understand what's going on. "Autism" is applied to children who are probably afflicted by a variety of brain dysfunctions and a wide range of healing adaptations. There now thought to be at least 6 major gene associations [that was 2006 or so] and there are probably many more. [2013 - many, many, many more]

For example #2 has the diagnosis of 'classic autism' but he has an above average IQ and does many things very well. He's quite verbal and reads well. 

#1 has a diagnosis of 'autism spectrum disorder' and is like #2 in some ways, but not in many ways. #1 has a much lower IQ, struggles to read and has far more behavioral problems, but has quite decent athletic skills. 

Almost all autistic children will tend to be rigid and prone to tantrums, but some are extreme cases (these tend to get more attention and may be difficult to care for at home) while some are not really all that hard to manage. #1 stresses our limits, but #2 (the autistic one) would probably not be too much parenting work if he were an only child. [2013: He got to be more work as he got older :-)]

It's very hard to generalize or predict about course or therapy. There are lots of strongly held opinions about therapy, but not all that much science. We've followed a 'moderate' path informed by professionals we trust, the research literature, and our own observations of both of our boys. 

We try things and see what happens. Often I'm surprised by what they can do. The very scanty scientific literature suggests that even with almost no professional intervention many children with autistic like features are much better as adults. It can be very hard to connect with the excellent therapists and it may be worth joining one or more waiting lists now. E may have ideas on therapists, but given our backgrounds and situation we've tended to rely more on domain specialists and ourselves than a general therapist. To put it a bit crudely, we're the 'general contractor' for the boys, and we hire out the specialty stuff.

The original ends with a list of topics I wanted to cover. The comments below are from the perspective of 2013:

• Autism society of America: A good organization, but less useful for us than I'd expected.
• Personal care attendent and IEP and state/county aide: Wow, we spent years trying to make aides/PCAs work. In the end we realized the PCA system was a poor match for our needs.
• Temple Grandin books: It's useful to read 1-2 to get a feeling for a different mind, but she's no more like our boys than they are like us.
• Financial planning: Complex!
• Our book case, of which I took this picture way back then:

Rebooting pyschiatry: time for a new set of disorders

I can't remember when I first decided that the psychiatric classifications I'd learned in medical school had outlived their usefulness. It was probably a gradual process, but by 2005 I wrote to a colleague "DSM IV was great in its day, but new knowledge is breaking down the simplistic classifications of the 1960s and 1970s. Schizophrenia, autism, etc -- bah, humbug. Those labels are better than nothing, but humans tend to confuse labels with reality …".

A few months later I took my rants public and went on for about 30 posts or so.  Soon I learned I wasn't alone, and by 2010 victory was in sight. I was a solitary crank no more.

After a bit of a hiatus the end came quickly, first with a frontal attack by the director of the National Institutes of Mental Health, then, amazingly, a NYT editorial. I mean, really, an editorial?

It's been one heck of a ride over the past 8 years. This rebellion must have been brewing for much longer in the research community, but I've been following this area pretty closely and it was cool to see it grow from nowhere to become a consensus. (I may be a crank, but I'm not crazy. I know my posts had no effect on this transformation.)

Okay, science has won. So now what ….

*cough*

Well, for now, we keep on using our legacy classifications -- either DSM IV or V, they're equally valid and equally invalid. Terms like "autism" [1], "schizophrenia", "depression",  OCD, ADHD, and "bipolar disorder" will remain guides to initial pharmaceutical therapy. Even more importantly, they will be the basis of reimbursement, regulation, disability support, and legal process for years (decades?) to come.

At the same time researchers will be using new terms to group people who seem to share common biology, including genetic programs and common protein expression. Those groups will cross traditional boundaries like childhood schizophrenia and autism; they will include some atypical minds that may be highly functional or advantageous in certain environments -- but that share traits with persons who live with disability. 

From new classifications will come better prognosis, better guides to treatment, and better outcomes. Our best guide to what lies ahead is to look back to the early 20th century, when people like William Osler and his colleagues rewrote the medical textbooks. In those days terms like "dropsy" were used to describe patients with heart failure, renal failure, lymphatic obstruction and venous valve failure. Four very different biological processes were assigned the same label and similar treatments. Reclassifying those patients was a first step towards scientific medicine.

Psychiatry, powered by the neuroscience renaissance of the past thirty years, is now taking the same journey.

[1] Aspergers', traditionally considered an autism variant, was dropped in the revised classification of disorders called DSM V. I understand the logic, but I actually think Aspergers was a relatively useful label. Ironic that we lost that one first.

Update 5/18/13 - my favorite psychiatrist blogger summed up our past and future worlds in two short posts:

• New Efforts to Overhaul Psychiatric Diagnoses Spurred by DSM Turmoil | Follow Me Here...
• Suicidal behaviour is a disease, psychiatrists argue | Follow Me Here...; An impulse disorder?

Special needs and psychosis: living with uncertainty

A NYT story of psychosis following developmental delay recalls Andrew's story (emphases mine)...

Providing Comfort When a Cure Is Out of Reach - Tara Ebrahimi - NYTimes.com

... Although Takkin had been found to have development delay and fairly severe A.D.H.D. at a young age, he had managed to lead a “normal” life well into his teenage years. He stayed in the school system for as long as he could, participating in work and life-skills programs. He was doing data entry at the airport and held a steady part-time job as a greeter at Trader Joe’s.

His situation was complex, as is often the case for people who fall into the gray space between severe intellectual disability and borderline development delay. He knew he was different from others in their early 20s, recognized that he didn’t really have any friends and that he would never go to college as his two older siblings had. He wanted nothing more than to get his driver’s license. But he was happy at times, especially when he was socializing.

Then he had the dental surgeries, and it was as if a switch in him had been flipped. After a series of root-canal procedures and teeth extractions, he woke up from his final round of procedures and anesthesia, and was never the same...

... we began seeking psychiatric help for what eventually would be referred to as Takkin’s “psychosis” and “delusional thinking.”...

... he was already in the social services system, which in our state consisted of a labyrinthine series of hoops and hurdles and bureaucratic insanity that not even the most educated and competent can easily navigate...

... I came up with a plan of action. And then another when the first plan failed. And another when the second plan failed...

... I drove to the emergency room, where we waited eight hours for him to be admitted to the psychiatric ward...

... it was time for Takkin to leave the psychiatric ward for an outpatient home ... I called a dozen times a day and could never get a response on the status of his anticipated stay, so he never went....

... he was released from the psychiatric ward into my custody, I was unable to reach his case manager at the hospital despite my constant phone calls, e-mails and voice messages, which were alternately kind, threatening and pleading...

Tara tells a story of psychosis developing after low IQ/ADHD cognitive disorder, Andrew's story tells of psychosis developing after Asperger's/autism. Adam's story may add to this tragic set. We have no idea how often this happens; that's just one of the failures of modern mental health research [1].

Tara also describes the disaster of American mental health care. That story has been told before. Recently some have suggested taxing bullets to drive a renaissance in mental health care. We could hardly do worse than we do now.

For us these stories are  personal. Our #1 son resembles the young Takkin. He lives in the "gray space", -- he has severe ADHD, cognitive disabilities, and the usual range of essential but near meaningless diagnostic labels. Will he, like Takkin and Andrew, develop a psychotic disorder over the next seven years? Does he, in a sense, have only a few relatively good years left?

We look at him, and we see features of an unnamed syndrome that continues to play out. We see uncoordinated growth, as though his cells were a mosaic of developmental clocks. Small feet, short legs, persistent  mandibular growth after maxillary has stopped. He too will need dental surgery.

There is something we cannot name that is ongoing. We assume the same process will continue to affect his brain development over at least the next decade.

How do we live with this? How do other parents of children with short lifespans or degenerative neurologic disorders live?

We live in the moment and in the past. We take photographs of good times. We spend our time and our money to have good experiences for him now, because his future is grimmer than most. Not hopeless, but not particularly hopeful.

We don't spend our time looking for a fix or a cure. We are decades from being able to fix this type of problem. Maybe centuries. Better to spend the time we have building memories.

Being the best we can be.

- fn -

[1] While we known almost nothing of natural history or epidemiology of psychosis with developmental disorders, we have hints like this preprint.

Emphases mine, the research community suspects that our definitions of "autism" and "schizophrenia" are at best incomplete, at worst completely misleading. This knowledge has not made its way into the general psychiatric community.

Expression of autism spectrum and schizophreni... [Schizophr Res. 2012] - PubMed - NCBI

Copy number variants (CNVs) associated with neuropsychiatric disorders are increasingly being identified. While the initial reports were relatively specific, i.e. implicating vulnerability for a particular neuropsychiatric disorder, subsequent studies suggested that most of these CNVs can increase the risk for more than one neuropsychiatric disorder. Possibly, the different neuropsychiatric phenotypes associated with a single genetic variant are really distinct phenomena, indicating pleiotropy. Alternatively, seemingly different disorders could represent the same phenotype observed at different developmental stages or the same underlying pathogenesis with different phenotypic expressions.

... ASD and schizophrenia associated with 22q11.2DS should be regarded as two unrelated, distinct phenotypic manifestations, consistent with true neuropsychiatric pleiotropy...

In this particular small study with a particular autism-spectrum-related genotype, the incidence of psychosis resembled the general population.

I have created an RSS Feed to track research on the relationship between developmental disorders and psychosis.

Autism redefined - DSM 5 and the services dilemma

I've claimed frequently over the past six years that the diagnostic term "autism" is virtually meaningless. That doesn't mean this is entirely a good idea ...

New Definition of Autism May Exclude Many, Study Suggests - Benedict Carey - NYTimes.com

Proposed changes in the definition of autism would sharply reduce the skyrocketing rate at which the disorder is diagnosed and might make it harder for many people who would no longer meet the criteria to get health, educational and social services, a new analysis suggests...

... The definition is now being reassessed by an expert panel appointed by the American Psychiatric Association, which is completing work on the fifth edition of its Diagnostic and Statistical Manual of Mental Disorders, the first major revision in 17 years. The D.S.M., as the manual is known, is the standard reference for mental disorders, driving research, treatment and insurance decisions. Most experts expect that the new manual will narrow the criteria for autism; the question is how sharply...

... Under the current criteria, a person can qualify for the diagnosis by exhibiting 6 or more of 12 behaviors; under the proposed definition, the person would have to exhibit 3 deficits in social interaction and communication and at least 2 repetitive behaviors, a much narrower menu...

Obviously, I agree with the DSM authors that the current definition of "autism" is not particularly useful. On the other hand, it's tied by law and legislation to a wide range of services and protections. So we need to be very careful about we replace it with. This is particularly important during our current era of slow economic growth, capture of that feeble growth by the most wealth Americans, and a rapidly aging population. There are ever more legitimate and powerful competitors for special needs funds; reclassification will be embraced as a big money saving opportunity.

To be sure, the fundamental problem is that "autism" gets special treatment over other brain disorders (ex: schizophrenia). There's no logical reason why this should be true, or why children in some school districts with "learning disabilities" get support while children with low IQ don't. That's why nobody has "mental retardation" any more; why assign a meaningless diagnosis when another equally meaningless diagnosis provides better services? For us doctors, that's a "no brainer".

We need to fix that problem, but it's not going to disappear. So any reclassification better have big returns. A new classification has to have a big impact on research, treatment, prognostic accuracy or management. This refactoring of the DSM classification doesn't promise much of anything -- except cost savings.

If there isn't a big impact, then we might as well flip the problem around, and redefine "autism" as "cognitive disability, cause unknown". That way we keep the legal protections and services associated with the word "autism", we expand those services to cover everyone who needs them, and we start with an intellectually honest classification that promises nothing and delivers nothing.

Then we start afresh - and begin to classify brain dysfunction based on pathophysiology and objective assessments.

See also:

• Very annoying: the diagnostic criteria for  are not all that useful 11/2005
• Autism turns into Asperger's - how did that happen? 5/2008
• Redefining mental retardation and autism - the revolution ahead 3/2006
• Psychiatric diagnoses: 200 years behind 11/2006
• Autism no more -- the end of a diagnosis 12/2006
• Autism: the label given to a wide and diverse variety of neurodevelopmental disorders 5/2007
• The end of autism 12/2009
• Rethinking neuropsychiatric diagnoses 9/2010
• Victory: The war against 20th century psychiatric diagnoses is all but won 12/2010
• The twilight of "schizophrenia" 4/2011

Nature November 2011: Special issue on Autism, Mottron's view of the employed autistic and Calgary's Ability Hub

The Nov 2011 issue of Nature (v479, n7371, pp5-144) focuses on "The Autism Engima". It includes 3 reviews/news articles and 1 research article:

• Special issue on neuroscience: The autism enigma - introductory editorial
• The prevalence puzzle: Autism counts - a thorough 'news' review of the prevalence of autism. I came away with the impression that novel environmental changes might account for 0-20% of the increased diagnostic prevalence of autism, but that most of it is better diagnosis and reclassification. Studies of adults suggest that autism was far more common than most imagined -- these children were invisible.
• Scientists and autism: When geeks meet - autistic traits may be advantageous in some careers, but the hypothesis that assortative mating accounts for autism clusters doesn't sound too solid.
• Changing perceptions: The power of autism - this one is a research article, and is behind a closed-science paywall. Science Daily has a summary: Autistic people superior in multiple areas: Scientists must stop emphasizing autistics' shortcomings, expert urges.

I followed up on the Mottron article and came across an excellent National Post article ...

Autism’s advantages: Researcher says autistics need opportunities more than treatment | News | National Post

Because autism — characterized by repetitive behaviours, restricted interests and preoccupations and difficulties in basic social and communicative behaviours such as eye contact, intonation and facial expressions — is a lifelong disorder, parents can be caregivers for life. But as the population ages and parents get sick and die, there’s an even greater need to integrate people with autism into society by giving them the skills they need to become independent adults, experts say. Children tend to be the focus, autism organizations admit. Adults are overlooked.

“After 18 years of age they’re not kids anymore and they’re forgotten,” Dr. Mottron said over the phone this week from Lyon, France. “People have a cliché, that if he’s autistic you can do nothing with him. That’s not true. The fact that you have some terrible autistic life is not representative of autism in general.”

In his commentary, Dr. Mottron cites recent data, including an epidemiological study from Korea published this June that found the disorder is three and a half times more prevalent than common statistics suggest. “Among these 3.5%, about two-thirds have no adaptive problem at all,” he said, meaning they function relatively normally in society and should be able to take on a job.

... Ms. Dawson said it’s unfair to categorize someone as low functioning or high functioning. She and Dr. Mottron believe many tests that are used to determine level of functionality are inappropriate. Less commonly used tests such as Raven’s Matrices, which doesn’t require verbal instruction to complete, can actually reveal very high intelligence levels.

“To estimate the true rate, scientists should use only those tests that require no verbal explanation,” Dr. Mottron wrote in his paper. “If we were to measure the intelligence of a person with a hearing impairment, we wouldn’t hesitate to eliminate the components of the test that can’t be explained using sign language; why shouldn’t we do the same for autistics?”

Ms. Dawson said an entire session at this year’s International Meeting for Autism Research in San Diego focused entirely on finding out how to measure the intelligence of non-speaking autistics, who might be considered low-functioning....

... The founder of Specialisterne, a Danish company that has helped more than 170 autistics find work since 2004, said it’s OK to start such a movement with people who would be considered higher functioning.

“If we will be able to run a business on the skills of medium- or low-functioning, I’m not sure,” Thorkil Sonne said from Copenhagen. “But everyone deserves a chance to feel that they can produce something that others appreciate.”

... the Sinneave Family Foundation’s Ability Hub, a 17,000 square foot centre on the University of Calgary campus dedicated to helping people with autism gain life skills and work training...

... The Ability Hub opened in October and is just one of a few new centres devoted to getting autistic adults ready for the real world, said its executive director, Dr. Margaret Clarke, who has spent a career working with people who have autism — the Ability Centre is under construction in Whitby, Ont., and the Pacific Family Autism Centre to be built in Vancouver.

“Around the world we know that average lifetime cost to society to an individual with autism … is $3.4-million per individual. Three-quarters of those costs are incurred in adulthood largely around services to enable and facilitate individual vocations,” Dr. Clarke said, adding that some data suggests every dollar you invest in pre-vocational programming for people gives you a $7 return. “I actually think that number is going to be even better in the area of autism because individuals with autism have a great capability to learn, they’re just often held back by specific skill deficits or not given a chance.”

The twilight of "schizophrenia"

Neurologic disorders, alas, are not going away. The concept of "schizophrenia", however, is shuffling off the stage.

Today's obit comes from Kwang-Soo Kim, a stem-cell scientist at McLean Hospital in Belmont, Massachusetts:  "These disorders are not really disorders. There's no such thing as schizophrenia. It's a syndrome. It's a collection of things psychiatrists have grouped together."[1]

Just like autism. Autism is a collection of "things" psychiatrists have grouped together, sustained by law, regulation, tradition -- and the current lack of a better alternative.

[1] Schizophrenia 'in a Dish': Scientific American 4/13/2011

See also:

• Victory: The war against 20th century psychiatric diagnoses is all but won

Victory: The war against 20th century psychiatric diagnoses is all but won

I started rabble rousing about the fallacies of psychiatric classifications (diagnoses, nosologies) about eight years ago. Five years ago I went public, since that time I've labeled 29 posts as "diagnostic definition" related [1] including my most recent rant...

... We're due for another DSM edition, but I doubt that will be any better.

The good news is that in the last 8 years it's become clear to every researcher that all of the common neurospychiatric conditions, from "ADHD" to "ODD" to "Autism" to "Aspergers" to "Bipolar disorder" to "Schizophrenia" are very rough categorizations of thousands of different "phenotypes" (where a phenotype is the end-result of the interaction between genes and environment) that are themselves dynamic over the lifetime of the brain. (Even after adolescence, we see major changes in schizophrenic symptoms between 20 and 50.

Over the last 3 years we've seen that many different combinations of diverse gene variants, combinations, "malfunctions" and prenatal genetic express modification can produce superficially similar clinical presentations that we squeeze into the garbage bins of "mental retardation", schizophrenia, and "autism spectrum disorder". Most surprisingly, many brains with extraordinary genetic disorders appear normal.

This classification problem isn't simply an annoyance for researchers and industrial ontologists. It has important legal, educational, financial and, yes, clinical implications. The legal, educational and financial implications are large but outside the scope of this post. Suffice to say there is a reason that the diagnosis of "autism" has exploded while the diagnosis of "mental retardation/DCD" has shrunk (clinically speaking both diagnoses are about equally useless)...

I think I can stop now. When Scientific American starts to talk about the problems with our current classifications of mind and brain disorders the war is over (emphases mine) ...

Slipping the 'Cognitive Straitjacket' of Psychiatric Diagnosis

...  In a recent article in the American Journal of Psychiatry, a Swedish team of researchers led by Paul Lichtenstein studied 7,982 twin pairs. They found a heritability of 80% for autism spectrum disorders, but also found substantial sharing of genetic risk factors among autism, attention deficit hyperactivity disorder, developmental coordination disorder, tic disorders, and learning disorders.

In another recent article in the American Journal of Psychiatry, Marina Bornovalova and her University of Minnesota colleagues studied 1,069 pairs of 11-year-old twins and their biological parents. They found that parent-child resemblance was accounted for by shared genetic risk factors: in parents, they gave rise to conduct disorder, adult antisocial behavior, alcohol dependence, and drug dependence; in the 11-year-olds these shared factors were manifest as attention deficit hyperactivity disorder, conduct disorder, and oppositional-defiant disorder. (Strikingly, attention deficit disorder co-occurs in both the autism spectrum cluster and disruptive disorder cluster.)

... , DSM disorders do not breed true. What is transmitted across generations is not discrete DSM categories but, perhaps, complex patterns of risk that may manifest as one or more DSM disorders within a related cluster. Second, instead of long-term stability, symptom patterns often change over the life course, producing not only multiple co-occurring diagnoses but also different diagnoses at different times of life.

Please read the above excerpt. I tear up looking at it.

This is progress! This is what Osler did for medicine in around 1900 when he tore down the outworn and deceptive strictures of 19th century medicine. He had to throw out the old ideas to move medicine forward. At long, long, last psychiatry, and neurology, are ready to be refactored.

The battle may rage for years, but the war is done. It's just mopping up now.

Now we can move forward.

[1] Greene's Explosive Child, by the way, led the way in 2005 by setting aside non-useful ICD-9 and DSM classifications in favor of a label that tied symptoms to effective management.

Rethinking neuropsychiatric diagnoses

I started bemoaning the classification (aka ontology, nosology) of neuropsychiatric disorders about 8 years ago. I'm not the only one. One of the things I liked about Greene's Explosive Child book is that he is clearly unimpressed with the DSM IV nosology.

We're due for another DSM edition, but I doubt that will be any better.

The good news is that in the last 8 years it's become clear to every researcher that all of the common neurospychiatric conditions, from "ADHD" to "ODD" to "Autism" to "Aspergers" to "Bipolar disorder" to "Schizophrenia" are very rough categorizations of thousands of different "phenotypes" (where a phenotype is the end-result of the interaction between genes and environment) that are themselves dynamic over the lifetime of the brain. (Even after adolescence, we see major changes in schizophrenic symptoms between 20 and 50.)

Over the last 3 years we've seen that many different combinations of diverse gene variants, combinations, "malfunctions" and prenatal genetic express modification can produce superficially similar clinical presentations that we squeeze into the garbage bins of "mental retardation", schizophrenia, and "autism spectrum disorder". Most surprisingly, many brains with extraordinary genetic disorders appear normal.

This classification problem isn't simply an annoyance for researchers and industrial ontologists. It has important legal, educational, financial and, yes, clinical implications. The legal, educational and financial implications are large but outside the scope of this post. Suffice to say there is a reason that the diagnosis of "autism" has exploded while the diagnosis of "mental retardation/DCD" has shrunk (clinically speaking both diagnoses are about equally useless).

The clinical implications are what matter to most of us. Autism is a fine diagnosis for getting hugely beneficial school and family services, but if it leads to pure therapeutic choices or misguided interventions then it's harmful. If we lump too many conditions into one bucket, we risk choosing the wrong interventions because they don't match the bucket.

I'm hopeful that over the next decade we'll see a revolution in thinking about neuropsychiatric disorders, and the evolution and diversity of mind. We'll become more empirical about what works and what doesn't, and recognize that the brain at 8, 14, 17, 20, 30 and 40 may be very different. We'll always need classifications, but they may be more akin to "Ritalin responsive" than to "ADHD".

Progress has been slow, but it's coming.

Brain scans for autism diagnosis - a lesson in press interpretation

There will probably be some discussion about a diagnostic test for autism that sounds very accurate ...

[citation needed] - trouble with biomarkers and press releases

... The latest issue of the Journal of Neuroscience contains an interesting article by Ecker et al in which the authors attempted to classify people with autism spectrum disorder (ASD) and health controls based on their brain anatomy, and report achieving “a sensitivity and specificity of up to 90% and 80%, respectively...

It's being marketed as a screening test for autism.

Not.

In a technical but very well written post Tal Yarkoni adds to a takedown by Carl Henegan writing for the Guardian (he's Director of the Center for Evidence Based Medicine at Oxford). Briefly, it's interesting science, but the spin is a load of hooey.

Yarkoni and Henegan walk through the basic statistics of pre-test and post-test probability. I say "basic" because the math is high school, but there's nothing simple about the underlying concepts. Most physicians learn them for an epi exam, and forget them within a week. The true summary of the research is "The method relies on structural (MRI) brain scans and has an accuracy rate approaching that of conventional clinical diagnosis."

So, no, it won't be useful for screening any time soon. On the other hand, it might be a big help in understanding many brain disorders, and even in redefining the classification of developmental disorders of the brain.

Cognitive evaluation and motivation - trickier than it looks

One of my sons has substantial measured cognitive disabilities including base IQ and a range of social functions. By most recent evaluations he's borderline "mentally retarded". (A nasty phrase that's enshrined by legal statutes. Of course there's no true binary state, this is all continua.)

Which is why our titanic struggles over his misuse of internet resources are puzzling. This ought to be the mismatch of the decade. In every measure of knowledge and cognitive measurement there should be no contest between him and me.

And yet it is a struggle. Mostly I win, but he wins some too. He's proven OS X Parental Controls, for example, are utterly broken. (I have more to write about iPhone for special needs adolescence. There's more promise there, starting with disabling Safari and YouTube.)

Yes, he has a knack for software. It's not savant level, but he might be 60% for age -- that's far beyond his other cognitive skills. It's not only that however. He can be very inventive in solving the problems I create for him.

It has something, I think, to do with his alien motivations. He's not particularly motivated by neurotypical concerns like parental approval or even peer approval. This means he barely exerts himself in measurement settings where most people would at least make a go of it. Where he is motivated, therefore, he performs significantly better than his testing would suggest possible.

Of course in most domains he can't perform in the neurotypical range no matter his motivation, but the reality of his peculiar (and highly problematic) motivational structure does mean most testing will underestimate his maximal abilities (though they do predict his performance in the settings we care about).

I suspect he is not unique.

Adventures in special needs – A Nordic ski resort

At one point in my life if I felt I needed a challenge I’d ride my bike a few thousand miles, or explore a foreign land.

Now I can dwarf those experiences with a simple four day outing to a Nordic ski resort.

I’m still recovering from this challenge. It was successful, but it did push the envelope.

We started a few months ago with one neurotypical child and two on the “autism spectrum” (a somewhat meaningless concept, but we don’t yet have a better classification). One child had done some snowboarding with limited success and had refused any skiing of any sort. Another had done some downhill skiing and decided, after a single face plant, that downhill skiing was insane. A third had very nervously descended a bunny hill.

We ended with all three navigating intermediate cross country ski trails in the wilderness (really) of northern Wisconsin.

The unique challenges here included:

• Three children, two parents. This stuff isn’t easy even for neurotypical children and it was very rare to have all three in a reasonably good mood at the same time.
• Weather. These children are used to winter, but an autistic meltdown can take a long time to resolve. Sitting around at 10F for an hour can be a problem, and they don’t necessarily respond to cold in a rational way.
• Clothing. See weather. Spectrum kids and adults can be resistant to logical dressing.
• Gear. Actually, this was easy. Cross country skiing fear is much more comfortable than downhill or even snowboarding gear.
• Unfamiliar environment, atypical stimuli: Northern scrub forest, harsh winds, knowledge that there really are wolves and cougars in the woods (even if they usually stay out of sight) – all troublesome. One child has a very strong need to always know exactly where he is in relation to the home base and to all family members – the first time on a trail was extremely scary. (The second time was easy however – his location memory is exceptional).
• Different schedules: One child takes hours to come online and peaks in the afternoon. Another rockets at dawn and is done by noon.

The full story of how we made the transition for all three over about two months would take a book to tell. It required genuinely Machiavellian manipulation of sibling relationships and a wide variety of motivators.

There are some quick lessons, however, that one might apply to a variety of similar special needs adventures.

1. Food: As a result of the climate, exertion, and anxiety the children needed to eat five times a day. If they were short on food they all melted down. We needed to keep them fueled with solid, high fat, high protein meals.
2. Everyone melted down sometime, including the neurotypical child. Interestingly they rarely melted down all at once, perhaps because there was a strong sense of group solidarity. Each child felt their parents had gone insane and they needed to look out for one another.
3. Choose a friendly resort in decline with a very good pool. The downsides of the resort people having limited knowledge of what worked and what didn’t was outweighed by the warm water swimming pool. The need to serve to the smoking, drinking, and spending snowmobiling market meant our kids oddities went unnoticed.
4. Our mobile phones were useless, but we had modern digital “walkie-talkies”. These things are cheap and absolutely amazing. REI has very good ones.
5. It would have been better to have had a third person along, but it was doable.
6. You need to be fully on your game. Get lots of sleep. Plan carefully and be ready to abandon every plan. Have contingencies for your contingency plans, and be ready to abandon those. Know when to retreat and when to advance.
7. Find a local expert and review all the trails in depth. In our case one parent woke early to scout out trails in advance and plan routes – that worked well. Get the best possible maps. Have a compass.
8. Carry a big pack to hold clothes, jackets, reserve materials, etc.
9. Be ready to stop a passer by and send them for help. We never had to do this, but you have to be psychologically ready to bail.
10. Establish a routine very early. Our was: TV and breakfast while Dad scouted routes. Swim. Eat again. Skiing. Eat again. Game room/rest/computer use. Eat. Ski/Other. Eat. Swim. Video.
11. Bring chocolate on the trail.
12. Lower the room temperature before dressing. Open a window and discretely turn off the heat. This is a big help.
13. Overdress. They need to be warm at the start. Clothes can be removed and placed in the backpack.
14. The kids snow pants were too heavy. We’d have done better with lighter wind pants over the nylon loose stretchy pants our boys favor. Invest in clothing.

There’s much more, but those are the ones I can remember. The most disabled child who we thought least likely to succeed turned out to be a wizard – he skied circles around us wearing only a long sleeve shirt when the wind chill was probably 10F. Everyone succeeded, all our goals were met, and the parents will eventually recover.

Update 2/1/2012: Years later we've done this several times. The biggest issue lately was with our neurotypical daughter, who gets anxious about downhills and loathes falling behind her brothers. Which is to say, we were totally victorious. Until I reread this by accident, I'd forgotten how hard it was to get this initial success.

The end of autism

No, the problems of suboptimal neurodevelopment are not going away. The concept of "autism" has lasted longer than I'd expected, but the assault continues ...

Syndromic autism: causes and pathogenetic pathways. [World J Pediatr. 2009] - PubMed result

... Genetic syndromes, defined mutations, and metabolic diseases account for less than 20% of autistic patients. Alterations of the neocortical excitatory/inhibitory balance and perturbations of interneurons' development represent the most probable pathogenetic mechanisms underlying the autistic phenotype in fragile X syndrome and tuberous sclerosis complex. Chromosomal abnormalities and potential candidate genes are strongly implicated in the disruption of neural connections, brain growth and synaptic/dendritic morphology. Metabolic and mitochondrial defects may have toxic effects on the brain cells, causing neuronal loss and altered modulation of neurotransmission systems...

Of course even if we abandon use of the term "autism" in quality clinical care and research it will remain tightly bound to service delivery. It will take decades to remove the concept from legal, reimbursement, educational and policy frameworks - and the slow, ponderous, archaic evolution of the DSM "classification" will keep it in psychiatry texts.

Autism will be preceded, I hope, with the end of "Asperger's" - at least in scientific writing. "Asperger's" will join "the planet Pluto" in the netherworld of meaningless terms. Within 10 years "autism" should also be replaced with a classification of neurodevelopmental disorders (the neuroconnectopathies?)

It's not mere pedantics. Names are powerful. Names determine how we interpret research results, how we predict outcomes, and, above all, how we decide which therapies to try first, and how we assign services and support. More precise names for the the complex mix of neurologic injury and repair we currently call "autism" will mean less time wasted on ineffective treatments, quicker use of what works, better targeted research, and more creative thinking.

See also:

• Be the Best You can Be: diagnostic definition
• Be the Best You can Be: Controlling nerve cell connectivity - more developments
• Autism turns into Asperger's - how did that happen?
• Be the Best You can Be: Autism: the label given to a wide and diverse variety of neurodevelopmental disorders (May 2007)
• Be the Best You can Be: Autism no more -- the end of a diagnosis (Dec 2006)
• Be the Best You can Be: Psychiatric diagnoses: 200 years behind
• Be the Best You can Be: Very annoying: the diagnostic criteria for Asperger's are not all that useful (2005)
• Be the Best You can Be: A breakthrough in understanding the genetics of schizophrenia -- and perhaps of autism too

Wealth and med choice: the antipsychotics

Interesting results, annoyingly inflammatory interpretation ...

Children on Medicaid Found More Likely to Get Antipsychotics - NYTimes.com

New federally financed drug research reveals a stark disparity: children covered by Medicaid are given powerful antipsychotic medicines at a rate four times higher than children whose parents have private insurance. And the Medicaid children are more likely to receive the drugs for less severe conditions than their middle-class counterparts, the data shows.

Those findings, by a team from Rutgers and Columbia, are almost certain to add fuel to a long-running debate. Do too many children from poor families receive powerful psychiatric drugs not because they actually need them — but because it is deemed the most efficient and cost-effective way to control problems that may be handled much differently for middle-class children?...

These sorts of studies irritate me. Not because they're unimportant, but because they are relatively easy to do, they are prone to error in interpreting diagnostic data, the level of discussion is usually weak, and there's rarely any follow-up. To be meaningful we'd have to fund far more difficult and expensive ethnographic studies (aka "qualitative research"). We rarely do that.

I have two early thoughts about this particular study. The relatively trivial one concerns the "conditions" clause. This usually refers to ICD-9 coded diagnoses (sometimes DSM coded, which is a hacked offshoot of ICD-9). Since these diagnoses are crafted to meet insurance reimbursement rules they are strongly influenced by payment source. So they are not a reliable data source for this kind of study.

The more interesting discussion point concerns what is meant by "actually need them" and "cost-effective". We have personal experience, as we have one child whose consulting pediatric psychiatrist long offered the use of anti-psychotic meds. We were able to avoid their use, but only because we have relatively large resources in many dimensions. Managing some autism-spectrum/"explosive child" disorders without, or even with, the most powerful available medications is extraordinarily challenging.

Our choice to forego their use was not based on a great dislike of these medications. If we had failed we would have used them. We might need them in the future. It is rather that we had relatively great, but not inexhaustible, private resources. The differentiator was not what our insurance could pay, but rather what we by virtue of training, education, income and temperament were able to do.

No society, not even Sweden or Norway, would be able to provide similar resources to every needful child. We should expect antipsychotic medications to be used more often among those with fewer private resources.

Four times more often? That does need to be investigated -- but remember that the billing diagnostic data is suspect, and that many of these conditions have a hereditary compoment. They may impact the parents, and impacted parents will be far more common in the medicaid population (because, of course, their income will be very low).

Now that I've said all of the above, I'll switch to the other side of the debate. There are almost no medicaid psychiatrists, and even fewer medicaid pediatric psychiatrists. Heck, there are almost no psychiatrists anywhere. There is a smoldering crisis in the expert psychiatric care of poor children. I would be very interested in a study comparing the use of antipsychotic medications in medicaid American children vs. a comparable Canadian group. Even with all of the objections I've raised, I can believe this is a major contributor to the findings. We need either to pay medicaid psychiatrists far more money, or we need to find an alternative way to deliver psychiatric-type services to this population.

This a really bad idea ...

A woman decides to try treating her son's autism with cannabis..

Not surprisingly, since she wrote an article about it, she feels he's doing well.

This is such a bad idea -- though I can understand why a parent might be so desperate they might try it.

Let me name the reasons why you shouldn't consider following along ...

1. Cannabis is not a placebo. Cannabis is not a "safe" but worthless herbal remedy. Cannabis is big-time pharmacologically active stuff. It has tons of effects. Maybe some of those efffects will help some brains; there's some thought that it accelerates neuronal connection death -- and that could even be therapeutic. Probably other effects will hurt other brains. Maybe it will both hurt and help. Maybe it will help for a while, then really hurt. Nobody knows.
2. Anyone remember thalidomide? It was supposed to be great for morning sickness, which is why it was given to my Canadian mother. In the US though the FDA didn't approve it. (My mother didn't take it, so I have all my limbs.) I don't think the FDA approves of treating neuroconnectopathies with cannabis.
3. People running an experiment are famously fabulously lousy judges of how well it works -- even when they're not deeply invested in declaring success.
4. The placebo effect on aggression can be enormous. Even if the Cannabis was marginally helpful, or somewhat harmful, we should expect a very large placebo effect in this kind of experiment.
5. Any parent with judgment this bad (or desperation this great) is going to be a very poor scientist. So even if we disregard the experimental design (open) and placebo effect, we should still be very skeptical of this report.
6. Heck, let's try Scotch. LSD. Heroin. Maybe all three, in combinations. On alternate days. When you're going to experiment on this scale, there are no limits.

Ok, but even if running this radical experiment on your child is a very bad idea, could cannabis play some useful role someday in treating some autism spectrum disorders? Well, in 2004 I wrote of the endocannabinoids ...

[a] .... book I've quite appreciated, written by an adult who'd suffered from severe ADHD/Explosive disorder, emphasized how severe his withdrawal syndrome was from marijuana, and provided anectdotal evidence that for children with ADHD marijuana is a particularly disruptive drug.

Given all of the above, it does not seem to be a great leap to a speculative relationship: Buspirone and endocannabinoids and "Explosive Disorder"/ADHD.

An interesting axis to explore. So I fired up scholar.google.com and entered the search terms: endocannabinoid buspirone. Intriguingly that led to the article cited here, a mouse study [found that] Endocannabinoid CB1 disruption did produce a peculiar mouse behavior -- anxiety/withdrawal in unfamiliar settings, aggression/activity in familiar settings. Hmmm. That sounds interesting.

It will be very interesting over the next few years to see how the Buspar, endocannabinoid, CB1, ADHD, PDD, explosive child, EBD, CCBD (complex cognitive behavioral disorder) axis evolves. Look for some interesting work on children with EBD using PET scans and Buspar. We are probably five to ten years from well understood therapies however -- even if this relationship holds up...

Yes, there are lots of reason to be curious about the endocannabinoids -- in animal studies.

Just don't do this on your kids.

Salon – autism is not a disorder

Salon has an article on the autism is not a disorder movement, sometimes called the “neurodiversity” movement. I don’t like to surrender the term neurodiversity, so I’ll call this the “autism is ok” movement.

We’ve been through this sort of thing a few times. Famously, some deaf people resent the use of nerve implants that diminish the appeal of sign language. On another front lesbians and gay men successfully transformed same gender sexual preference from a disease to a trait.

These examples are well known, but there’s a third example that’s been forgotten. In the 1970s it was a fad for a while to consider schizophrenia to be just another worldview; and that the disease was an biased social construction. That idea was, how shall I say, bull poop.

Reality is a lot messier. The term “autism” is an all-but-obsolete category for a wide range of neurologic variations. Many “autistic” persons are absolutely disabled, unable to support themselves in any employment and unable to survive in any world past or present without extensive support. Others are quite successful electrical engineers (sorry, famous example).

I wouldn’t want to render my autistic children “normal”, but I would like to boost one IQ about 50 points and give another child more control over his emotions. The former is unlikely to happen, but we might succeed with the latter. Similarly, we’d like to help another neurotypical child pronounce the “r” sound at the start of words.

In the end, whether you call something a “disorder” or a “trait”, we still try to make life better for the person.

Autism and savant syndrome

Shortly after reading of an obsessive audiophile savant (definitely spectrum) I came across an Economist article exploring an old theme -- exceptional abilities in atypical minds...

The link between autism and extraordinary ability | Genius locus | The Economist

... A link between artistic genius on the one hand and schizophrenia and manic-depression on the other, is widely debated. However another link, between savant syndrome and autism, is well established...

A study published this week by Patricia Howlin of King’s College, London, reinforces this point. It suggests that as many as 30% of autistic people have some sort of savant-like capability in areas such as calculation or music. Moreover, it is widely acknowledged that some of the symptoms associated with autism, including poor communication skills and an obsession with detail, are also exhibited by many creative types, particularly in the fields of science, engineering, music, drawing and painting. Indeed, there is now a cottage industry in re-interpreting the lives of geniuses in the context of suggestions that they might belong, or have belonged, on the “autistic spectrum”, as the range of syndromes that include autistic symptoms is now dubbed...

... A standard diagnosis of autism requires three things to be present in an individual. Two of these three, impairments in social interaction and in communication with other people ... The third criterion, however, is that a person has what are known as restrictive and repetitive behaviours and interests, or RRBI, in the jargon.

Until recently, the feeling among many researchers was that the first two features were crucial to someone becoming a savant. The idea was that mental resources which would have been used for interaction and communication could be redeployed to develop expertise in some arbitrary task. Now, though, that consensus is shifting. Several of the volume’s authors argue that it is the third feature, RRBI, that permits people to become savants.

Francesca Happé of King’s College, London, is one of them. As she observes, obsessional interests and repetitive behaviours would allow someone to practice, albeit inadvertently, whichever skill they were obsessed by. Malcolm Gladwell, in a book called “Outliers” which collated research done on outstanding people, suggested that anyone could become an expert in anything by practising for 10,000 hours. It would not be hard for an autistic individual to clock up that level of practice for the sort of skills, such as mathematical puzzles, that many neurotypicals would rapidly give up on.

... Dr Happé has drawn on a study of almost 13,000 individual twins to show that childhood talent in fields such as music and art is often associated with RRBIs, even in those who are not diagnosed as classically autistic. She speculates that the abilities of savants in areas that neurotypicals tend to find pointless or boring may result from an ability to see differences where a neurotypical would see only similarities...

Simon Baron-Cohen, a doyen of the field who works at Cambridge University, draws similar conclusions. He suggests the secret of becoming a savant is “hyper-systematising and hyper-attention to detail”. But he adds sensory hypersensitivity to the list. His team have shown one example of this using what is known as the Freiburg visual acuity and contrast test, which asks people to identify the gap in a letter “c” presented in four different orientations. Those on the autistic spectrum do significantly better at this than do neurotypicals...

... The question of how the autistic brain differs physically from that of neurotypicals was addressed by Manuel Casanova of the University of Louisville, in Kentucky. Dr Casanova has spent many years dissecting both. His conclusion is that the main difference is in the structure of the small columns of nerve cells that are packed together to form the cerebral cortex. The cortical columns of those on the autistic spectrum are narrower than those of neurotypicals, and their cells are organised differently.

The upshot of these differences is that the columns in an autistic brain seem to be more connected than normal with their close neighbours, and less connected with their distant ones...

... Dr Snyder argues that savant skills are latent in everyone, but that access to them is inhibited in non-savants by other neurological processes. He is able to remove this inhibition using a technique called repetitive transcranial magnetic stimulation.

Applying a magnetic field to part of the brain disrupts the electrical activity of the nerve cells for a few seconds. Applying such a field repeatedly can have effects that last for an hour or so. The technique has been approved for the treatment of depression, and is being tested against several other conditions, including Parkinson’s disease and migraines. Dr Snyder, however, has found that stimulating an area called the left anterior temporal lobe improves people’s ability to draw things like animals and faces from memory. It helps them, too, with other tasks savants do famously well—proofreading, for example, and estimating the number of objects in a large group, such as a pile of match sticks. It also reduces “false” memories (savants tend to remember things literally, rather than constructing a mnemonic narrative and remembering that)...

... Savant syndrome, then, is a case where the politically correct euphemism “differently abled” has real meaning. The conclusion that should be drawn, perhaps, is not that neurotypicals should attempt to ape savants, but that savants—even those who are not geniuses—should be welcomed for what they are, and found a more honoured place in society.

The original article is "young and smart" smarmy, but I've excerpted the worst of the tangents. What's left is a compilation of interesting anecdotes.

I don't believe that 30% of autistic persons have "savant abilities". I suspect the journalist just got this wrong, perhaps the study group was made up of high IQ autistic adults. In that group I can imagine the 30% figure is real.

On the other hand I know a boy with a low IQ who has savant-like abilities to identify persons of interest in very large crowds. I keep trying to come up with a business use of his odd talent, but it sure comes in handy finding his prone-to-wander sibling.

In the end there aren't a lot of practical tips from the article, but it reminds us of the extraordinary diversity of mind concealed by our similar bodies. We're still far from understanding all the variations that shade between disability and selective ability, and how these minds develop from childhood through adulthood.

Violence and the natural history of Autism - so what do we know?

Ann Bauer has written four stories about her son Andrew

• July 2005: He's been doing well from age 12 to 17.
• May 2007: Andrew is 19. She tells us that he was misdiagnosed with schizophrenia, and that antipsychotic medications made him violent
• Mar 2008: She’s struggling, and still feels that the antipsychotic medications are responsible for Andrew’s worsening condition.
• Mar 2009: Andrew is dangerously violent, and his mother can’t get help in an emergency.

From Mar of 2009 (emphases mine) …

Ann Bauer on autism, violence | Salon Life

... Andrew started life as a mostly typical child. But at 3 and a half he become remote and perseverative, sitting in a corner and staring at his own splayed hand. Eventually he was diagnosed with high-functioning autism, a label that seemed to explain everything from his calendar memory and social isolation to his normal IQ.

We got him into a good program and there was a brief, halcyon phase of near normalcy … from ages 12 to 17… I occasionally even referred to him as "cured."

But in the months before turning 18, Andrew grew depressed and bitter. Huge and hairy -- a young man who grows a beard by twilight -- he suddenly became as withdrawn as he'd been at 4. Many of his old symptoms returned: the rocking and "stimming" (e.g., blinking rapidly at lights), the compulsion to empty bottles of liquid soap. Sometimes he would freeze, like a statue. Classic catatonia, the experts told us...

… When Andrew finally landed at the county hospital, after 10 hours in the circling ambulance and another three in the E.R., I was still looking for a different answer. This wasn't autism. Surely he had a brain tumor, a seizure disorder, or a delusional condition such as schizophrenia. Maybe, on one of his crime sprees, he'd gotten ahold of some PCP.

But the psychiatrist assigned to my son said no. The MRI was clean; the EEG normal. The doctor's specialty happened to be schizophrenia, and he saw none of the signs. Street drugs would have left Andrew's body by now. This was isolation, frustration, hormonal surges, poor impulse control and hopelessness. It was adult autism, the psychiatrist told me: one awful direction it can take…

So what's going on here? What does this mean for parents of children who carry the label “autism”?

Not to much by itself. Andrew’s tragedy is one of hundreds of thousands of stories. It defines boundaries, but how typical is this path?

Well, for that we’d like to have some medical research. Like being the operative word …

Let’s start with the phrase “adult autism”, the term Andrew’s psychiatrist is said to have used. There are thousands of medical articles on DNA findings in autism, but only 7 hits on “adult autism” of which only a Japanese study is mildly interesting.

Okay, so what about a search on “natural history”, the medical term for studies of the progression of a disorder?

Those results are little better. With a few minutes of work I found seven articles over about 40 years in Japan, the US, Sweden, and Turkey. That’s not the same as "seven research studies'”, this set includes at least four reviews! …

• Freeman et al, 1991 – 62 patients studied over 12 years. The abstract isn’t very useful.
• Shirataki et al, 1984 – “… poor outcomes might be due to the particular situation in Japan throughout this study period…”
• Kobayashi et al, 1992. Sort of a f/u to Shirataki, also Japanese. “Although 31.5% had shown marked deterioration during adolescence, 43.2% had shown marked improvement during that period. Possible factors contributing to these results are discussed.”
• Rutter 1970 – Infancy to Adulthood. No abstract, this is too long ago to have one.
• DeMyer et al 1973 – Another one too far back to have an abstract.
• Nordin et al, 1998 – See below
• Korkmaz 2000 – See below

Two of the reviews sounded like they might be worth digging into …

Korkmaz 2000 (Turkey, review) … a gradual overall symptomatic improvement including an increase in adaptive skills is observed in most cases with age. Follow-up studies show that the diagnostic features, the differential diagnosis, and clinical problems of adult autistics differ substantially from that of autistic children… Depression, epilepsy, and behavioral problems such as aggression and agitation may be major clinical problems during adolescence…

Nordin et al, 1998 (Sweden, review) … The majority of children with autism show deviance and socially or psychiatrically handicapping conditions throughout life. Only a small proportion of those with classical childhood autism lead independent adult lives. Others, particularly those with 'high-functioning' autism and so-called Asperger syndrome will improve enough to live an independent adult life. The level of mental retardation and other comorbid conditions (such as medical syndromes and other neuropsychiatric disorders, including epilepsy) is important in predicting outcome…There is a continued need for prospective, longitudinal studies of children with autism spectrum disorders, particularly in Asperger syndrome. The role of interventions of various kinds needs to be addressed in such studies.

So over 40 years of “research” on autism, and millions of dollars in NIH money, we have a handful of studies of small numbers of people and a few review articles.

This is pathetic, especially when we think of all the money we’ve wasted on vaccine distractions. In a just world the last five directors of the National Institutes of Mental Health would be grilled by a rabid Congressional subcommittee. What the heck have they been spending their money on?

To underscore just how bad the research record is, the lay literature is competitive. Send in the Idiots traces five people’s story from childhood to adulthood; in this context it qualifies as qualitative research.

So what can we say from Andrew’s story, other than that there’s a hell of a lot of suffering in this world?

Not much. In 2009 we know about as much about developmental brain disorders as 19th century physicians knew about fluid balance. In those days doctors couldn’t meaningfully distinguish right sided heart failure from renal failure from venous insufficiency from lymphedema. We didn’t make much progress until new instruments (the stethoscope for one) and new thinkers (William Osler) tore up the old classifications and started over with careful observation.

Today, 100 years after Osler, we seem to have forgotten how to observe the natural history of disorders we don’t understand.

With autism and other disorders of brain development, we need to start over with new diagnostic definitions, new qualitative research, and new retrospective and prospective studies of the course of the disorder. We’ve screwed around long enough.

Oh, and fire the Director of the NIMH ok?

Update 3/27/09: After sleeping on this, and thinking how incredibly hard it is to do natural history studies on this particular topic, I decided to give the current and former NIMH directors a break. So maybe time outs rather than termination. Our knowledge is so incredibly limited, however, that it would be well worthwhile to qualitatively profile four or five hundred adults with a history of childhood autism or Asperger's. Forget representative selection, just find whoever we can get and do the interviews. That's a study we could do and fund this year, and I'm confident it would tell us a lot. It would also make it impossible to ingore the depth of our ignorance.

I have two additional comments on the specific story of Andrew. One is that, if he can be restrained from harming himself or others, the future need not be hopeless. We all know of schizophrenics who, with medication and time, improved considerably.

Secondly, if the description we've been given is reasonably accurate, I believe a thoughtful psychiatrist would delcline to place Andrew in any pre-established diagnostic category -- neither schizophrenia nor autism nor anything else. So there is no ability to predict outcomes, and all treatment will be empirical.

Warner on Risperdal use in children

The NYT's Judith Warner meant well with a recent blog post about Risperdal use in children with "bipolar disorder" but she was ill-served by the research psychiatrists she interviewed.

Here are some excerpts of her writing, with the less sensible parts removed ...

Tough Choices for Tough Children - Judith Warner Blog - NYTimes.com

It was disturbing to read in The Times this week that the “atypical” antipsychotic Risperdal, a tranquilizing whopper of a drug with serious, sometimes deadly side effects, is now being widely prescribed to children with attention deficit hyperactivity disorder.

.. why, according to new Food and Drug Administration data on doctors’ prescribing practices, were 16 percent of the pediatric users of Risperdal over the past three years children with A.D.H.D.?

... The biggest controversy in the controversial field of psychiatry these days ... is the issue of pediatric bipolar disorder... a group of children who are really difficult: chronically irritable, extremely aggressive, prone to explosive outbursts and out-of-control rages.

Many doctors, influenced by the work of Dr. Joseph Biederman at Harvard Medical School (whose ties to industry were detailed in The Times in June), say these symptoms are signs of mania, and call these children bipolar. Others label them with “extreme A.D.H.D.” or Oppositional Defiant Disorder or “severe mood dysregulation,” ...

... This will not satisfy the critics of today’s biological psychiatry for whom no drug use is good drug use, nor the critics of today’s culture of parenting who are sure that all the aggression, irritability and out-of-control behavior that psychiatrists call mental illness is actually nothing more than a state of “toddlerhood in perpetuity” caused by ineffective parenting practices, as the conservative family psychologist and writer John Rosemond and his coauthor have asserted in his new book, “The Diseasing of America’s Children.”

And here's what I wrote as a comment (edited) ...

It was a noble effort, but I think you were led astray by your psychiatrist colleagues.

The best writing, by far, on the problem of the "explosive child" is by Ross Greene. For a discussion of Greene, Kazdin and the NYT's own Amy Sutherland see my blog posting.[1]

Greene's book is still in print, still sells well at Amazon, and has a 4.5 star rating.[2]. that's incredible for a book that's aimed at parents with children chronically on the edge of disaster.

You know Greene's book is for real, because not all his case study children do well. Some do horribly. That makes him believable. People who need Greene already know that not all endings are happy.

I'm an expert. Honest. An MD, MS, years of experience, and a child straight out of Greene. He's on two meds and I can easily see how he might have ended up on Risperdal, but, thus far, he's holding. We owe a lot to Greene and Kazdin and our helpers.

I'm also, interestingly, a world-class expert in nosologies and classifications (yeah, it's true).

So I can tell you that every classification we can invent for these children is merely a convenience. We don't know enough about the brain and this class of brain disorders to classify them the way we do heart failure or renal failure. Pediatric brain failure isn't well suited to classification.

One of Greenes many strengths is that he realizes this, and is humble about how much the diagnostic categories like 'childhood bipolar' or ODD or ADHD or PDD or autism really mean. They're better than nothing, but not enormously better. New classifications, in the absence of new science, won't change practice.

There's a vast amount we can do to bring basic behavioral messages (extinction, reinforcement) and teachings like Greenes to psychiatrists (who know very little about this domain). We'll still need to put a significant number of these children on drugs like Risperdal though. These are children facing terrible outcomes, and if the drugs are shown to help the terrible risks are worth bearing.

I didn't bother saying anything about oxygen-sucking dolts like Rosemond. People like him are a canker sore on the parents of troubled children [1]. Enough said.

Update 11/26/08: [1] On reflection, I have an idea where Rosemond and the like get their ideas. One of our children gets more "timeouts" (really calm-down intervals generally lasting under 30 seconds, but we call them "timeouts") on a sub-average day than another child has had in her entire life -- and will probably ever have. That's not an order of magnitude difference, it's a 2-3 order of magnitude difference. A 100 to 1000 times increase in parenting challenges.

Now, both these children are abnormal -- they're just abnormal at different ends of a broad scale. If all we knew was the easier child, we might also have astoundingly stupid ideas about parenting.

Controlling nerve cell connectivity - more developments

A day or two ago my post on Fragile X and autism research included a discussion of a general theme in current autism research ...

... Bear and other scientists have also identified several drugs that seem to correct the problem. The drugs don't replace the missing brakes in the brain. Instead, they limit acceleration by reducing the activity of a group of receptors on brain cells known as mGluR5 receptors.

The drugs have reversed most of the effects of Fragile X in mice. They are now being tried in humans. And at least one small study found that a single dose of a drug had an effect....

The idea is that neuronal connectivity is a delicate, dynamic, balance. Too much connectivity, or too little, can both prevent cognition from working correctly.

So now there's research on modulating neuronal interconnectivity. If they worked safely these drugs would inevitably be used on "normal" brains, probably illegally, but they could be of enormous benefit to persons with impaired cognition.

Note in this review the implication that autism and schizophrenia may be, in a simplistic sense, two sides of one coin.

A Switch to Turn Off Autism?: Scientific American

Scientists say they have pinpointed a gene in the brain that can calm nerve cells that become too jumpy, potentially paving the way for new therapies to treat autism and other neurological disorders...

... The brain is continually trying to strike a balance between too much and too little nerve cell activity. Neurologists believe that when the balance tips, disorders such as autism and schizophrenia may occur. They are not sure why neurons (nerve cells) go berserk. But Greenberg says he and his colleagues located a gene in mice and rats that helps keep neural activity in check—and may one day be manipulated to prevent or reverse neurological problems.

Researchers report in Nature that they discovered a gene called Npas4 churns out a protein that keeps neurons from becoming overexcited when they fire (communicate with one another through connections known as synapses). When scientists blocked the protein, the nerve cells fired or sent out more signals than normal; when they beefed up production, the neurons quieted down...

As scientists learn more about how brain cells stay balanced, Greenberg says they will be able to identify people who are genetically at risk for neurological disorders and develop new drugs to prevent and treat them. He notes that some of the other genes that Npas4 affects also have been linked to autism...

Drugs to treat these disorders are years away from common use -- if ever. In the near term understanding the protein products of these genes may help us better classify and organize brain disorders, though we can also expect that prenatal testing will lead to more abortions.

These developments may also increase the value of doing genetic testing on persons with cognitive disorders, so that if appropriate trials are available one might, very carefully, consider enrolling.

Games for focal abilities: Set and visual perception

Last week I wrote about focal abilities in the context of cognitive disability, and implications for employment in a distributed world. I was partly inspired by a friend who knew of an autistic child who was very good at the card game "Set":

Be the Best You can Be: Employment for special needs persons – hints from the classification of galaxies

...These [larger] disabilities are often offset by domains of relative, and even, absolute, strength, such as rapid pattern recognition in the card game “Set”, or rapid discrimination of large amounts of visual data. Tasks similar to the Galaxy Zoo classification, but with payment attached, might become an option – in time...

Since Child A has almost savant abilities to locate family members in a crowd, Andrew suggested I try him with "Set" -- a "game of visual perception".

The directions seem complex at first. Players choose groups of 3 cards from a larger set of 12 in which each of four attributes (color, shape, shading, number) are either identical or unique. I wasn't sure my son would get the game.

He saw me practicing as I thought about how to teach this, walked over, and started stamping out sets.

I guess he's played this before.

I'm not sure he's brilliant at Set, but for now he's much better than I am. Unsurprisingly, given his ADHD, he doesn't have much patience for the rules. He prefers to lay out all the cards, and pick out sets without keeping score.

It's great to have a game he can excel at, even though we'll need to be flexible with the rules.