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.

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What’s in an autism diagnosis, Part 2

by Benison O'Reilly on Wednesday, March 17th, 2010

I love Seana’s latest blog about the iPhone Apps. She is such a tech-head, unlike her co-author, who learns just enough about technology to function in this modern world, but no more.

However, the next generation of my household may turn out to be quite different. I mentioned that Joe has a computer obsession last time. His latest irritating habits are to download random bits of software from the Internet and to try and reprogram our computers using MS-DOS. He is just nine years old, too!

I came in this afternoon to discover a blue screen on my laptop – never a promising sign. My budding computer technician (aka Joe) looked decidedly guilty, but couldn’t help proclaiming, ‘It’s the blue screen of death!’ Where does he learn these things?

Our long-suffering professional computer technician, who we have to call periodically to undo the worst of Joe’s handiwork, has suggested we give Joe his own, old computer that he can trash to his heart’s content. I’m not so keen, however, as we would be giving in completely to his autistic obsession, never a wise thing in my opinion.

Anyway, speaking of obsessions, I thought I’d continue on where I Ieft off last time, discussing the proposed DSM-5 for autism spectrum disorder. We mentioned last time the elimination of Asperger’s syndrome and PDD-NOS as separate diagnostic categories, but there are other changes afoot too.

In the DSM-IV there were three domains of deficits for autistic disorder: qualitative impairment in social interaction; qualitative impairments in communication; and restricted, repetitive, and stereotyped patterns of behaviour, interests, and activities. In the DSM-5 these three domains become two:

1) Social/communication deficits

2) Fixated interests and repetitive behaviours

The reasons for this decision, were as the American Psychiatric Association explains:

• Deficits in communication and social behaviors are inseparable and more accurately considered as a single set of symptoms with contextual and environmental specificities

• Delays in language are not unique nor universal in ASD and are more accurately considered as a factor that influences the clinical symptoms of ASD, rather than defining the ASD diagnosis

• Requiring both criteria to be completely fulfilled improves specificity of diagnosis without impairing sensitivity

Another proposed change, which is overdue, is the inclusion of ‘unusual sensory behaviours’ as a component of the diagnostic criteria for ASD. In the DSM-IV no mention is made of sensory behaviours, even though, as many parents of children on the spectrum can testify, some of these behaviours can be the most challenging of all to manage.

The last important change proposed in the DSM-5 is the recognition that, whilst ASD is a neurodevelopmental disorder and therefore must be present from infancy or early childhood, it may not be recognised in some individuals (notably, those with a current diagnosis of Asperger’s) until later childhood, when life starts throwing up new social challenges.

Despite his remarkable progress, Joe is not a ‘recovered’ child and remains somewhere on the autism spectrum. I think we can safely categorise his computer obsession as a fixated interest, although on the bright side it may also provide him with a career down the track. Fingers crossed….

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What’s in an autism diagnosis?

by Benison O'Reilly on Wednesday, March 3rd, 2010

I’ve had one of those days today.

Joe is home from school with a virus and fever. Unfortunately I had no choice but to drag him along with us when I took his older brother to the paediatrician’s and then on to big brother’s school: a strict, boys only school that accommodates 1400 young lads, ranging in age from ten to eighteen.

I don’t know about your kids but Joe always becomes more autistic when he’s sick and today was no exception. He simply could not control his obsessions and kept inappropriately darting into offices at the paediatrician’s and brother’s school to look at computers. He is interested in Windows® operating systems – don’t ask me why.

When we were finally on our way back to the car we passed a couple and their young son, dressed in school uniform, heading the other way. I knew they were on their way to an interview for a year 5 placement at the school in 2011. I knew because my husband and I went through the same process, twice, in earlier years, for Joe’s older brothers.

It was a sad reminder how my little boy is different. Joe was on the school’s waiting list like his brothers before him, but when his name came up we politely declined an interview. We could never send him to such a boofy, blokey school. It’s the sort of school where you either sink or swim. Joe would sink.

Instead I have his name down at a couple of expensive private schools that boast additional support for kids with special needs. Hopefully he will get a placement in one of these schools for Year 7 (mercifully still some years away).

Whenever I get a little down like this I have to remind myself how far he’s come—light years—since diagnosis, six years ago last week.

Which brings me to the news, admittedly a couple of weeks old, that the American Psychiatric Association have released their draft Diagnostic and Statistical Manual (DSM)-5, which, as widely predicted, has eliminated Asperger’s syndrome and PDD-NOS as diagnostic categories and instead bundled everyone on the spectrum under the umbrella term, autism spectrum disorder.

Their reasons:

Because autism is defined by a common set of behaviors, it is best represented as a single diagnostic category that is adapted to the individual’s clinical presentation by inclusion of clinical specifiers (e.g., severity, verbal abilities and others) and associated features (e.g., known genetic disorders, epilepsy, intellectual disability and others.) A single spectrum disorder is a better reflection of the state of knowledge about pathology and clinical presentation; previously, the criteria were equivalent to trying to “cleave meatloaf at the joints”.

This decision has provoked controversy. Some parents are aggrieved that their bright, hyper-verbal kids with Asperger’s will been lumped together in the same category as individuals with severe disabilities. I can understand this. Asperger’s sounds a more palatable disorder to most people, especially when so many misconceptions (‘they won’t look you in the eye’, ‘they don’t like people’, ‘they can’t talk’) about autism continue to exist.

However, many kids with Asperger’s currently don’t get the support they need at school and maybe a different label will mean their difficulties will be taken more seriously in the future. Also, when I was writing the Australian Autism Handbook I spoke to a leading paediatrician who pointed out that a person with severe Asperger’s (very socially withdrawn, very rigid, very anxious) may well be more disabled than an individual with mild speech and developmental delay, but better social skills and an ability to go with the flow.

As others have said, we need to remove the stigma associated with autism and the new DSM may turn out to be an important step.

If you’d like to look at the DSM-5 proposed revision for autism spectrum disorder the link is here: http://www.dsm5.org/ProposedRevisions/Pages/proposedrevision.aspx?rid=94#

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