Wednesday, September 27, 2006

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.

Thursday, September 21, 2006

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.

Tuesday, September 12, 2006

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.