On dancing frogs and physical clues to autism

by Benison O'Reilly on Saturday, July 17th, 2010

Some of you are probably old enough to remember the old Loony Tunes cartoons, featuring Bugs Bunny, Daffy Duck and the crowd.

There was one particular cartoon that used to drive me nuts. It was about a down-and-out homeless guy who discovers a box, and inside the box is a singing, dancing, high-kicking frog. Dollar signs appear before the tramp’s eyes (his luck has changed!) and he starts heading off to various casting agencies, frog and box in hand.  But the frog only performs its routine for him and when anyone else is around it simply sits in the box and says ‘ribbit, ribbit’ — as frogs tend to do.

Eventually the guy gives up in despair and tosses the box and frog away…only for it to be discovered by another down-and-outer, to repeat the process over, and presumably over again.

It’s almost unwatchable.

The dancing frog has become a metaphor in our house for the child who refuses to perform for the crowd. And of all our children, Joe is the most notorious dancing frog.

It happened again this week. Every six months we toddle off to the paediatrician’s for a check up — the same paediatrician who diagnosed Joe way back in February 2004. Back then Joe was so disabled—completely hyperactive and very autistic, with no play skills and virtually no language. His developmental assessment suggested a very low IQ.  The situation looked bleak.

Now, despite the autism, things are much better.  Academically Joe’s maths and spelling are age appropriate, and his reading and handwriting are just a bit below. His language improves on a daily basis, so much so that I sometimes wish he’d talk less.  He can ride a bike, swim and play soccer.  He loves play dates with his friends.

I took his impressive school report along to show the doctor, which is just as well because the chatty, interactive boy of five minutes earlier proceeded to ignore the doctor, avoid eye contact, and disappear into an autistic trance.

‘He’s not usually like this,’ I said, ‘Normally he never shuts up’.

Yeah, yeah, I’m sure the doctor was thinking.

Why do I have this desperate desire for people to see Joe at his best? To see that he is not so different from the rest of us?  Probably it’s just for my own pathetic gratification because— at this stage at least—he couldn’t care less.

I should let go. After all he is not a trained seal, nor a dancing frog.

Speaking of things medical, I stumbled across this interesting paper the other day. It’s entitled ‘Morphological features in children with autism spectrum disorders: a matched case-control study’. Basically a bunch of Dutch researchers got 224 children on the autism spectrum (mean age 9.7 years; 4:1 males/female ratio) and some matched controls (typically-developing kids of the same age) and looked for physical signs that distinguished the kids on the spectrum from their typical peers.  They classified these physical signs as major abnormalities and minor variants. The latter  are ’slight morphological deviations’ that have no serious medical or cosmetic significance but may be  useful indicators of disturbed development. Of these minor variants, minor anomalies have a prevalence in the normal population of ≤4% and common variants a prevalence of >4%.

The children with ASDs were statistically more likely to present with major abnormalities, minor anomalies and common variants, including:  dull facial expression and open mouth appearance  (these were the only two major abnormalities detected),brachycephaly, facial asymmetry, webbed toes,  hyperflexible joints,  prominent ears, attached earlobes, clinodactyly, flat feet, high palates and abnormal hair whorls (’cowlicks’).

What is most interesting is that none of the kids on the spectrum in this study had an intellectual disability (defined as IQ<70),  yet they still displayed physical signs of ‘difference’ – subtle, but present nonetheless. It adds further weight to the genetic basis of ASDs.

And the sixty million dollar question is: Does Joe have any of these signs?

Yes. He has both hyperflexible  joints (although his father, who is clearly not on the spectrum, also has these) and he has some degree of brachycephaly. The latter was actually commented on by a doctor when Joe was a baby, but I just assumed it was a consequence of encouraging him to sleep on his back, a precaution introduced to reduce the likelihood of SIDs.

Still he remains a very good looking boy, with a slightly odd shaped head. I just hope he doesn’t go prematurely bald.

The study is published in the Journal of Autism and Developmental Disorders as a free access article,  so you can read it yourself if you so desire.

http://www.springerlink.com/content/ck441558236×33w7/fulltext.pdf

By the way, in case you’ve been wondering about Seana’s recent silence on the blog front, she has been ferrying her brood of four around Scotland for a few weeks, visiting the relatives.  We look forward to her return next week.

Tags: autism, diagnosis, genetics, research