Medical care of cognitively disabled persons

The American Academy of Family Practice provides public access to their journal articles. They are written for physicians, but they're relatively readable for informed laypersons. Relatives, caretakers and friends of persons with cognitive disabilities may want to review and keep a recent summary of care recommendations: Medical Care of Adults with Mental Retardation - June 15, 2006. It's written specifically for MR, but it's a good source of ideas for the care of all persons with cognitive disability.

I don't haven't seen anything of this sort before. Kudos to AFP for covering the topic. (A later issue also covers care of the homeless, an unfortunately related domain.)

Using electric shocks to manage the behavior of special needs children and adults

New York state's Rotenberg center uses skin shock to change the behavior of special needs children. It sounds pretty much identical to the use of shock collars to change the behaviors of dogs. The head of the school is a disciple of BF Skinner, of operant conditioning (behaviorism fame).

All animals, including humans, respond to a range of rewards and punishments. Punishments are all a form of "pain", whether than pain is psychic (time out, shame, isolation) or physical (spanking, shocking). Humans are not very different from dogs and other mammals; methods used to train dolphins work quite well on husbands.

Remote electric shock, whether used on dogs or humans is another form of punishment. Some animals might "prefer" it to isolation or time out, others would prefer a time out, still others may respond primarily to positive reinforcement and weakly to negative reinforcement.

The problem with shock is the same as with spanking and torture (the most extreme form of negative reinforcement). It is very hard to do it appropriately -- especially on other humans. I suspect it's easier to be calm and measured about using a shock-collar on a dog, but, on the other hand, I've seen very good and loving dog "masters" unintentionally abuse "training" (choke) chains on dogs who are being obtuse. Another problem is that both animals and humans develop tolerance to negative reinforcement. Voltage levels rise. A dog who responded to a simple snap of a training collar needs a much harder snap. Aversive measures must be metered to avoid tolerance.

This is difficult territory. We need wisdom, science, humility and a good measure of dread to walk these roads with relatively safety. Last resorts indeed.

When predictions fail: The story of a special needs football player

Michael Oher was a “special needs” student — by any criteria. Based on the journalist's description (these are often unreliable), he sounds like he might have met the diagnostic criteria for autism spectrum disorder as a younger student — though that diagnosis does not appear to have been made.

Mr. Oher had immensely bad luck for over half his life, then vastly better luck since then. His story was in the NYT Magazine this weekend. He’s expected to become a very well paid professional football player.

Stories don’t end with a magazine article. Disaster could strike Mike Oher tomorrow, or he could retire from football a wealthy man. One thing will not change, however. No matter what befalls Mr. Oher in the years to come, he, and his adoptive family and teachers and friends, have broken “the four minute mile” of personal doom. The impossible, once done, becomes the conceivable, then perhaps the common.

BTW, if you don’t shed tears by the end of the article, your situation is indeed dire.

Autism basic science: gene regulation diferences in "identical" twins

A recent journal article (full text is free) is remarkable on several levels:

Gene expression profiling of lymphoblastoid cell lines from monozygotic twins discordant in severity of autism reveals differential regulation of neurologically relevant genes. Hu VW, Frank BC, Heine S, Lee NH, Quackenbush J. BMC Genomics. 2006 May 18;7:118.

BACKGROUND: The autism spectrum encompasses a set of complex multigenic developmental disorders that severely impact the development of language, non-verbal communication, and social skills, and are associated with odd, stereotyped, repetitive behavior and restricted interests...

RESULTS: Here we demonstrate, for the first time, that lymphoblastoid cell lines from monozygotic twins discordant with respect to severity of autism and/or language impairment exhibit differential gene expression patterns on DNA microarrays. Furthermore, we show that genes important to the development, structure, and/or function of the nervous system are among the most differentially expressed genes, and that many of these genes map closely in silico to chromosomal regions containing previously reported autism candidate genes or quantitative trait loci.

CONCLUSION: Our results provide evidence that novel candidate genes for autism may be differentially expressed in lymphoid cell lines from individuals with autism spectrum disorders. This finding further suggests the possibility of developing a molecular screen for autism based on expressed biomarkers in peripheral blood lymphocytes, an easily accessible tissue. In addition, gene networks are identified that may play a role in the pathophysiology of autism.

Well, there's a lot here. For starters, this was published not in a traditional journal, but rather on BioMed Central -- very cutting edge. Secondly, it begins with a very concise and quite excellent definition of autism spectrum disorder. Thirdly, we see again that twins who share the same genes may regulate gene expression them very differently, and thus become quite different people. Why do they express genes differently? Ahh, that's the next level of the great game.

Fourthly, there's a prospect for using microarrays to study gene expression using blood samples in autism -- a great research tool. Lastly, the rate of progress in the last year is breathtaking.

This, of course, does not translate into therapy, management, optimization or prevention ... yet.

ARC Fun Fest and MN Special Hockey book

Minnesota Special Hockey: MN Special Hockey at ARC Fall Fun Fest. The Fun Fest is 10/27, more details at the link.

Building a massive Lego Model: An adaptive approach

Building one of the massive LEGO kits, like Jabba's Sail Barge, is a cross between classical model building and puzzle solving. It’s mechanically much easier to manage than traditional (toxic) glue based models, but the challenge of locating pieces is a bit like finding puzzle pieces. The directions are quite good, but they require attention to follow. Assembly is the equivalent of a very long and very intense occupational therapy session testing a wide range of skills. For a child who loves Star Wars, fantasy, and playing with small pieces and spaces it’s almost irresistible.

It is somewhat expensive at $75, but it’s much cheaper than OT. It’s a shame insurance doesn’t pay for it! A rash promise led to purchasing this kit; here are some tips we learned putting this together. In this case the modeler loves the work and the play, but has a dark talent for scattering small pieces of toys across the continent. Spatial orientation and sequencing are difficult, the kit exercises these talents well.

A few tips:

1. Never allow unmanaged access to the kit or the pieces. It is trivial to lose pieces. In our case even a few minutes of uncontrolled access would be lethal to the kit. We keep the assembled pieces in a plastic bin and the parts in other smaller bins — all stored in an inaccessible area between build sessions.
   
   
2. There are hundreds of parts. The biggest construction challenge is finding parts. Clear baggies are your friends – gallon and quart/liter sized. Divide parts up first by color (odd colors go together) then by size (big/small) and store them in baggies. Some colors may get partitioned into 3 sizes. Do this dividing beforehand, you don’t want your modeler doing this.
   
   
3. Consider putting similar parts together. This does help with search, though sometimes separating them is a nuisance. It’s kind of fun though.
   
   
4. Search for parts in the baggies, preferably without opening the baggies. This cuts down on lost parts. When a baggie has to be opened, secure the baggie and try to allow only the selected part to escape.
   
   
5. Feed one part at a time. It’s tempting to put together a pile of parts for a given project step, but this introduces too many distracting and confusing variables. Parts vanish.
   
   
6. Speak sparingly. Use gestures and pointing to help with part location and assembly.
   
   
7. Imagine you’re assisting at surgery (I used to do this when I was a real doctor). Anticipate your surgeon's next step. Deliver the key piece with invisible grace just as it’s needed.
   
   
8. Work in many short sessions. Depending on your modeler’s mood and strength they may do more or less part searching. We do 2–6 pages at a time.
   
   
9. Sometimes my modeler wanted to find pieces himself, sometimes he wanted more help. Attentiveness, flexibility, patience and concentration are valuable. This model teaches more than one skill!
   

The average 47 yo will probably need to build this sucker over many multi-hour shifts, ending each as their eyes give out. A special needs child who’s highly motivated can build it, with help, over perhaps 10 2–3 hour sessions.

PS. We completed the sand crawler perfectly. My modeler was very proud.

The unreasonable non-toxicity of Ritalin

Some drugs, like acetominophen (tylenol), are considered "safe" when they are fundamentally quite toxic.

Others, like Ritalin, are properly regarded with great suspicion. How can such a powerful medication be safe for decades of use in a developing brain?

Surprisingly, the literature is reassuring. I can now add some informal updates courtesy of a family member who does NIH funded research in this domain. The research community has long expected ritalin to have some deleterious effect on neuronal proliferation, but recently concluded studies, and those still in progress, will likely show (again) surprisingly negative results. Probably Ritalin has some effect on brain development, but the effect size is small.

Hard to believe really, but it does affirm my prejudice in favor of this well aged medication. Given Ritalin's safety record, it would take a lot to make me shift to another medication of the same or similar class.

MN Special Hockey registration for 2006-2007 is now open!

The Minnesota Special Hockey is preparing for Season II. We're recruiting skaters, and would-be skaters, with developmental disabilities living in the Twin Cities area.

Please spread the word. The registration deadline is 10/16/06.

Ultrasound, neuronal migration, and autism

Autism is thought to be a disorder of neuronal migration with a genetic and intrauterine environmental etiology. Although it is not clear that the overall prevalence of childhood cognitive disorders has substantially increased, the diagnosis of autism is made far more frequently than in years past. This may represent a change in how we conceptualize cognitive disorders of childhood, or it may reflect a true change in disease pattern and/or frequency.

There is strong evidence for a polygenic predisposition to autism; a collection of genetic traits that favor neuronal migration disorders. The evidence is fairly strong that this is not related to mercury levels, thimerasol preservatives, or immunization practices. What else can one look for in the environment? What has changed in the past 20 years? The list is very long, which is why this study is mildly interesting (emphases and annotation mine):

Ultrasound Affects Embryonic Mouse Brain Development

.... The prolonged and frequent use of ultrasound on pregnant mice causes brain abnormalities in the developing mouse fetus, Yale School of Medicine researchers report August 7 in the Proceedings of the National Academy of Sciences.

'Proper migration of neurons during development is essential for normal development of the cerebral cortex and its function,' said Pasko Rakic, M.D., chair of the Department of Neurobiology and senior author of the study. 'We have observed that a small but significant number of neurons in the mouse embryonic brain do not migrate to their proper positions in the cerebral cortex following prolonged and frequent exposure to ultrasound.'

Neurons in mammals multiply early in fetal development and then migrate to their final destinations following an inside-to-outside sequence. The destination defines the neurons' connectivity and function. It has been reported earlier by others that abnormal cortical function may result when this process is grossly altered by genetic or environmental factors such as alcohol and drugs.

The study reported on August 7 is believed to be the first to look at the possible effect of ultrasound waves (USW) on neuronal migration in mice at a late stage of embryonic brain development, when the migratory pathways are the longest and may be most vulnerable. The Yale team injected more than 335 fetal mice at embryonic day 16 with special markers to track neuronal development. Exposure to USW for 30 minutes or longer [jf: adjusting for mouse lifespans and gestation, this would be hours to days in a human] caused a small but statistically significant number of neurons to remain scattered within inappropriate cortical layers and/or in the adjacent white matter.

'The magnitude of dispersion of labeled neurons was highly variable but increased with duration of exposure to ultrasound waves,' Rakic said. 'These findings suggested the desirability of further work in this area. We do not have any evidence ourselves that USW cause behavioral effects in mice or have any effect on the developing human brain.'

So mouse exposed to proportionately very long periods of ultrasound have some changes to neuronal migration, but it's unclear if there are any behavioral effects. It would be very interesting to repeat these studies in a mouse population that's genetically predisposed to develop "murine autism".

When I was doing obstetrical care, I and the thoughtful colleagues I worked with shared a common suspicion of the complete safety of ultrasound. There have always been small studies in animals suggesting worrisome effects, but it was absolutely clear that for any significant concern in pregancy ultrasound was indicated. I was less convinced of the case for routine dating ultrasounds, but I also recognized that there was no way we were going to avoid those given current practice and litigation risks. I was, and am, very opposed to recreational ultrasound. I knew enough of the history of medicine to worry about "perfectly safe" interventions.

Which is all to say that I'm predisposed to find this study interesting, and I may be giving it undeserved attention. We can expect it to be well investigated.

I suspect if there is an effect in humans, it may turn out to only be true for a genetically vulnerable fetus exposed at a very critical time for unusually long ultrasounds. I would also wonder if rather than creating a new cognitive disorder it biases the nature of neuronal migration dysfunction in the direction of autism rather than some other cognitive disorder pattern.

This study should discourage recreational ultrasound use. I would also be very slighly more reluctant to use ultrasound on a mother with a strong family history of autism or with a personal history of autism.

Update 9/7/06: There's a weird sequelae to this story.

Autism and compensatory reasoning by imagery

[Via FMH]

Many, but not all, of persons with the label 'autism spectrum disorder' do a great deal of visual reasoning. Temple Grandin in particular has written about her own way of problem solving. It's widely assumed that the brain is 'routing around problems' by repurposing visual subsystems to solve language and reasoning problems. The adaptive brain does some things better than conventional brains, and some things less well.

A recent neuroimaging study fills out this picture:

New Scientist Breaking News - How people with autism miss the big picture

Brains scans of people with the condition show that they place excessive reliance on the parietal cortex, which analyses images, even when interpreting sentences free of any imagery. In other people, the image centre appears to be active only when the sentences contain imagery.

The results agree with anecdotal reports that people with autism are fixated on imagery but struggle to interpret words and language. They frequently excel at recording visual detail, but overlook the bigger picture and the context that comes with it.

Researchers led by Marcel Just of Carnegie Mellon University in Pittsburgh, Pennsylvania, scanned volunteers' brains while they were deciding if certain statements were true or false. Some of the statements relied on analysis of language alone, while others could only be understood by considering the imagery they conjured up. "The number 8, when rotated 90 degrees, looks like a pair of spectacles", for instance, needs both arithmetic interpretation and visualisation of the rotated number.

Just says that the observed over-reliance on the parietal cortex might have arisen to compensate for poor brain connections to the prefrontal cortex, which interprets language (Brain, DOI: 10.1093/brain/awll64)...

I'd like some evidence based recommendations on how to teach reading to someone who problem solves with the parietal cortex ...