More Politics of Autism, the NCSA, Prader Willi, Happy Puppets and the Crazy Car Wash

Kempton Park Racecourse, near London - now known for its Hot Dogs

A science-heavy post about microglia is in the works, but today’s post ties together some less complex issues.

As I mentioned in an earlier post, there is a new book out called the Politics of Autism, by Dr Siegel.

I did buy 2 copies, so I could give one away. It is a bit heavy going and I did skip some parts, but it is as expected a good read. The author does personally know/knew some of the “big names” in autism like Lovaas and even Bernie Rimland.

I was interested to read that Lovaas basically cheated in his famous ABA “clinical” trial, where he showed amazing responses. All the trial participants that did not develop speech during the trial were “retired” during the trial. He rigged the result, by removing those less responsive to the trial therapy.  If you follow this subject, you will know that some Americans and Canadians get very upset when intensive ABA is not provided for free to their child, believing that it would likely "cure" their child, like in the Lovaas study. This trial is constantly used to support the idea of intensive early intervention producing dramatic life changing results.  In most people with severe autism, no amount of behavioural intervention is going to change the fact that they are severely autistic. It does though make many such people more functional, which can greatly help them. Expectations need to be realistic and parents should not feel guilty if they cannot provide many years of therapy costing $60,000 a year. You can achieve a great deal at much less cost.

Siegel thinks that Bernie Rimland (of ARI and DAN!) started out well and then went a bit dotty.

She makes excellent points about education.

She makes the mistake of venturing into the realm of medicine, which is clearly not her field and tells readers not to bother trying to treat the biology autism. 10 years ago I would have been mistakenly backing her up on this, but then I had my epiphany, thanks to reading about Professor Ben Ari’s small clinical trial of Bumetanide in 2012.

Who should buy the book?

This is not a feel good book, it is a very down to earth book that tells the story as it is, not the sugar coated version.

I thought this book would be good for people who study autism at University, like one of Monty’s assistants; she now has copy number two.

Many people with Asperger’s would likely hate this book and think Dr Siegel is a witch.

I thought most parents of people with severe autism probably do not want to hear more about how bad things are, but perhaps I was wrong. Dr Siegel provided one of her old posts as a guest blog post for the newly formed National Council on Severe Autism (NCSA).

Diagnose and adios - autism families deserve better

The NCSA is a new group set up to represent what used to be autism, before the diagnosis got broadened. They are really all about DSM3 autism, or what we called Strictly Defined Autism (SDA).

National Council on Severe Autism

National Council on Severe Autism (NCSA) Launches New organization will advocate "for those who cannot speak for themselves."

Horror stories or just telling it how it is?

Some people with mild autism seem to be very upset by what NCSA are advocating, but that is hardly a surprise.

Decide for yourself whether you consider the NCSA to be spreading horror stories, or just telling it how it is.

An attention-seeking UK daytime TV “celebrity” has a son with Prader Willi syndrome and he is regularly described as having autism.  Prader Willi is associated with an insatiable appetite which, if uncontrolled, leads to obesity; reduced IQ, impaired vision, behavioural problems and a bad temper. It is caused by an anomaly on chromosome 15, which causes a loss of function of some of those 600 genes.

75% of cases occur when part of the father's chromosome 15 is deleted.  In another 25% of cases, the person has two copies of chromosome 15 from their mother and none from their father. As parts of the chromosome from the mother are turned off, they end up with no working copies of certain genes

A similar mechanism occurs in Angelman syndrome, except the defective chromosome 15 is from the mother or two copies are from the father.

Angelman (AS) and Prader-Willi (PWS) Gene Region

People with Angelman’s have small heads and are not obese; because they are generally very happy, they are sometimes called Angels.  The condition used to be called Happy Puppet Syndrome, which apparently is not seen as politically correct these days. I should add the Prader Willi could be called “please lock the fridge syndrome”, because if you do not remove food the child may become severely obese before he/she is 10, develop type 2 diabetes, rapidly become insulin dependent and then have even bigger problems.

The Prader Willi mother is campaigning for disabled people’s rights, which is of course a nice thing to do; she is against abuse/trolling on the internet.  She recently revealed that at 16 years of age, her verbal, but obese son cannot wash or dress himself and no longer attends school regularly, because he has learnt that by having an early morning meltdown, the driver will refuse to take him to school. Like many teenage boys he would rather stay home than go to school.

The mother says she is concerned he is missing out on schooling.

I dare say Dr Siegel would ask what kind of schooling is this 16 year old getting? Perhaps learning to wash himself and dress should first be mastered.  In someone without severe MR/ID this is a matter of correct instruction and unlimited perseverance, by someone.

Dr Siegel could repurpose her blog post again, this time:

Diagnose and adios? Prader Willi families deserve better

The mother says she is thinking of putting her son into residential care. That sounds great, but who is then ever going to teach him to wash and dress himself and restrict his eating? If Mum cannot, why would some employee earning near minimum wage in a care home make a better job of it? What happens when he starts to need insulin injections twice a day, because obesity was not addressed?

Sometimes horror stories do not reflect the child, but how they are being cared for and all with the best intentions.  Most such parents need help, indeed it’s to be expected. This all could be solved by some home visits from someone like Dr Siegel.  More of these people do exist; our Greek-American ABA consultant would give very similar advice to Dr Siegel. Avoiding school would not be tolerated, regardless of any meltdown. Someone with an IQ>60 definitely can be taught to dress himself, even if occasionally a shirt goes on back to front.  Food has to be restricted.

Monty's morning assistant at school works with many other kids with autism and from what she tells me, it is clear that many issues repeat, even the publicity-hungry mother who ends up failing her own child. Since our morning assistant is writing a self-help manual for parents dealing with severe autism, I can imagine where my other copy of Dr Siegel's book is destined to go. At least my autism intervention library is being put to further use.

It should be noted that some autism mothers react very dynamically. We have one reader who identified a novel effective drug therapy for her child and is now trying to commercialise it, we have another reader who has inspired and funded research into what was a rarely studied genetic "autism". Parents react very differently to the challenge of raising a child with a severe disability, in some it brings out the best.  It is not just about having a high IQ, or a lot of money.

Some people cannot afford to pay for such 1:1 advice, but many might choose to, if they knew it existed. In many countries, like some provinces in Canada, families dealing with a disability are given substantial financial resources to help themselves. In Ontario there is currently uproar on the proposed $140,000 cap on free autism therapies per child. That is $140,000 more free money that we received. I recently calculated our total cost of autism up to the age of 16 and when converted into Canadian money it is $190,000. They should of course have different limits based on different levels of severity. In the DSM5 jargon you have 3 levels of need/severity and so you could have a low limit for level 1, since Aspies do not benefit from vast amounts of ABA, say $20,000 and a high limit for level 3, say $250,000. Then wait for the surge in (re)diagnosis of level 3 autism in Ontario.

            Diagnosing for Dollars (click, for Dr Siegel's take)

Many “horror stories” appearing on the NCSA forums likely could be avoided by applying personalized medicine, rather than cookie cutter medicine, or standard psychiatric medicine. 

Kids with undiagnosed genetic disorders 

I am not a doctor, but I do quite regularly get to play guess the undiagnosed metabolic/genetic disorder.  The latest one is what would cause deafness and hypertonia and apparently no other symptoms.

I recently read that US medical insurance generally will not pay for genetic testing for autism, because there are no therapies.

But yet there sometimes are, if you look.

Look at the recent comments in this blog about a child whose genetic testing revealed a problem with the KCNQ3 gene, which encodes the Kv7.3 potassium ion channel. You can look up Kv7.3 channelopathy, or just the KCNQ3 gene.

This is at least partially treatable just by using google and the excellent Genecards human gene database; both cost absolutely nothing.

https://www.genecards.org/cgi-bin/carddisp.pl?gene=KCNQ3

You can both activate and block this ion channel.  You will need one or the other.

Jobs for adults with Autism

You do quite regularly hear about how an IT company like Microsoft, or a big bank is actively recruiting people with autism. This always makes me laugh.  IT jobs for Aspies - yes of course, but autism?

People with DSM3 autism are not commuting to work reading the Wall Street Journal, or the Financial Times; but there should be things they can do.

Many years ago there used to be special companies set up to employ disabled people. This became not politically correct, for some reason.

Remploy is an organisation in the United Kingdom which provides employment placement services for disabled people. It is now a “welfare-to-work provider” finding jobs for disabled people, but for most its existence it directly employed disabled people in a number of factories, owned by Remploy itself, and subsidised by the UK government.  This was phased out at the start of the 21st century, under the prevailing view that disabled people should have mainstream jobs.

Sadly, many disabled people cannot hold down a mainstream job.

You might recall Andreas Rett (of Rett Syndrome), as well as being a doctor, established a factory in which neurologically disabled youngsters could work. That was 50 years ago.

One supermarket chain where we live sometimes has young people with Down Syndrome, or MR/ID helping to pack your groceries.

Monty’s afternoon assistant was telling me how sad it is that one Aspie her age is still without any job. My reply was that someone has to create him a job, just like we will have to create Monty a job.

I am a big believer in developing musical and other artistic skills, it did not get the above Aspie a job, but it does give him something to do.

Our very worldly Greek-American ABA consultant told me long ago that the biggest problem “her kids” face, as they grow up, is that they have nothing to do with all their time.  No job and no hobbies is not a good combination.

As I write this text, Monty is downstairs drawing a frog. Before that he was playing all the melodies in his current piano book.  Before that he washed his Mum’s car and earlier on we were washing my car.

Monty’s Crazy Car Wash

You gotta be a little bit Crazy to work here!

You gotta be totally Crazy not to try it!

I think Monty will end up more capable than having a car wash, but it is quite a suitable job for many young people with DSM3 autism. It is a genuine job, whereas packing groceries is not and the Crazy Car Wash is a lot of fun.

Good journalism?

There are very few journalists who are credible when they write about autism; they generally do not understand it at all (you cannot blame them for that!); then there are some Aspie ones, who will by definition tend to lack empathy, and they can completely fail to understand the severe end of the spectrum, often in a jaw-dropping fashion.

I rather liked this article by a 28 year old journalist taking charge of her 24 year old sister with autism, for the first time and going for a girls’ weekend riding horses.

https://www.telegraph.co.uk/travel/family-holidays/holiday-with-adult-sibling-with-autism-horse-riding-dartmoor/

I wonder at what point my 18 year son will be taking charge of his 15 year old sibling with autism, for a boys’ weekend. Hopefully I will not need to wait 10 years.

I expect it will be something eventful like Tom Cruise and Dustin Hoffman on a road trip to Las Vegas, in the excellent, but nowadays much maligned, film Rain Man. Bernie Rimland was the autism advisor for this film. 

This Christmas in London on December 26^th, Monty asked me if he was going to be having a hot dog for lunch; leaving me to ponder where did that idea come from. He accurately recalled that 12 months previously, on Boxing Day, he had gone with Uncle Stuart and Dad to Kempton Park for a boys’ day out at the horse races. The weather is usually cold and damp (i.e. miserable), but you do get to have a hot dog.

Conclusion

If you can take the sometimes brutal honesty of describing things as they really are, then Dr Siegel’s new book is going to be appreciated and you will also like the new US National Council on Severe Autism. 

A sense of humour will do you much more good than political correctness ever will. Upsetting people can sometimes be necessary to enable them to acknowledge their own delusions. I am beginning to sound like Dr Siegel, who likely would take her car to the Crazy Car Wash, should Monty open a branch in California.

It is up to parents to stop their child becoming obese, even more so when they have a genetic propensity towards this condition. 

If you do not have $60,000 a year to pay for ABA and feel you are missing out, make your own intervention program instead. Buy some books and recruit some helpers.  Don't spend years fuming in a waiting list, pondering what might have been.

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