UA-45667900-1

Friday, 18 September 2015

The Benefit of Defining Severity in Autism






 
We have seen in this blog that many hundreds of different dysfunctions can lead to symptoms broadly diagnosed as autism.  At the same time, the boundary at which people seek to medicalize behavioral problems continues to shift (more ADHD, more autism etc.), making it now hard to know what people mean by “autism”.

Rather than grading autism severity 1, 2 or 3, which is the new clinical practice under the American psychiatrists’ DSM5, my scheme might be more useful, since it would also show the variability of the symptoms.

I would rate “autism” on a scale of 1 to 100, but would state typical and peak values.  This could be established via an intelligent questionnaire given to parents and teachers.  It certainly would remain subjective and be far from perfect.



0 to 100 scale, with typical to peak

Some examples:-


Asperger’s plus Sensory

Somebody with what used to be called Asperger’s, who attends mainstream school, but has now developed sensory issues that the parents and child find troubling might be 5/15.

This would mean that most of the time the child is at 5, but when the problems arise from sensory issues he moves up to a 15.  The increase of 10 is a shock to the parents and would be noticed in mainstream school, but to someone at the other end of the scale, it would be like a hiccup.


Boy on the Bus

The nonverbal teenager with “autism” in the US, who the school bus driver forgot on the bus and was found dead a few hours later, still on the bus, parked back at the depot, might be 85/90.  This person needed assistance to wash, toilet and dress himself.  Clearly his issues were quite different from the 5/15 child.

85/90 should mean never be left alone and do not hand over to the “care” of the unknown relief bus driver.


Classic Autism at Special School

In most countries children with Classic Autism are in special schools.  What is interesting is that in this group there are often big variations over time.  These variations, just like all those comorbidities, are big signposts as to what the underlying neurological dysfunctions are.

A child might be 40/70; meaning that much of the time (i.e. at 40) things are nicely under control, but sometimes things get much worse.  Some parents describe this as “my child raves like a lunatic”, for others it might be aggression towards others and in some it might be self injury.

By far the most read posts on this blog come from people searching on google “autism + histamine”, so it looks likely that very many people find that summertime allergies cause big spikes in autism, as odd as that may sound.

There appear to be many other reasons for this temporary change 40/70 or 70/90 or even 10/30.  These big changes can be caused by all kinds of things.

In a future post I will look at the inflammatory response to GAS (Group A Streptococcus) and aberrant immunological reactions to GAS antigens.  The first of these might well cause the “raving loony” effect, while the second might the produce the facial grimacing and tics, observed by some readers of this blog.  If there was an effective rating scale, you could easily distinguish between the two.  Is the change 40/45 or 40/70 for example?


Double tap autism

In an earlier post I gave the term “double tap” autism to those people who started out with regular classic autism, say 40, who then suffer a sharp (permanent, if not treated) regression taking them to say 70 or even higher.

The internet is full of untreated examples of just this phenomenon.

Knowing that this person is 40/70, might then prompt the clinician to look for what had happened to cause this step change in autism symptoms.  If you managed to get to 4 years old before the regression to 70 occurred, there should be a good chance of finding out what happened, treating it and getting back to at least 40.

      
Autism Secondary to Mitochondrial Disease (AMD)

This young child might appear as 0/50, showing that before the onset of mitochondrial disease he was a typical child, but he regressed over a few weeks/months to something similar to classic autism.  It is the big change from 0 to 50 that should sound alarm bells.

The sooner it is treated, the better the final result. 



Primary and Secondary Causes of Autism

This all fits nicely with the segmentation I suggested in a previous post, regarding Primary and Secondary causes of autism.

If someone is 40/70, the 40 represents the primary cause(s) of their autism and the increase by 30 to 70 is the effect of the secondary dysfunctions when they are active.

Note that many people have commented that their therapy for Primary autism ceases to be effective when the secondary dysfunction(s) become active.  Hence “NAC has stopped working”, “Bumetanide has stopped working” etc.




Primary Dysfunctions in Autism
Secondary (some transient) Dysfunctions



Excitatory/Inhibitory GABA imbalance
Food allergy (e.g. gluten)
Oxidative stress
Pollen allergy
Neuroinflammation
Mast cell activation disorder
Activated microglia (over-activated immune system) inviting secondary dysfunctions
Mastocytosis
Vitamin B7 (biotin) related dysfunctions
Reaction to GAS and/or GAS antigens
Vitamin B9 (folate) related dysfunctions
Reaction to candida
Vitamin B12 related dysfunctions
Mitochondrial dysfunction
Central hormonal dysfunction (T3, TRH, Serotonin, IGF-1, BDNF etc)
Inflammatory events raising IL6 (e.g. slowly losing milk teeth)
Ion channel dysfunctions
Disturbed gut microbiota
Mitochondrial disease
Leaky Blood Brain Barrier (BBB) & leaky gut
etc …
etc…



The thing to remember is that while the some of the above may be relevant to most people exhibiting “autism”, many will be irrelevant to any one person.  So in many people candida, gluten and disturbed gut microbiota are not an issue at all, but in a small number one may be.

I think that some mild cases nowadays defined as autism are likely caused by just one of the secondary dysfunctions that may, on occasion, fade by themselves, or by dietary modification.


Resource Allocation

Since there will never be enough resources to go around, authorities have to prioritize where money is spent.  Do you start with the worse affected and then work down?  Do you invest the limited resources where the impact is greatest?

One thing we know for sure is that there will never be enough money and often those who complain the most, get the most resources.  Those without lawyers and parents who can write long letters get what is left.

If there was a severity scale, it could be used to better allocate resources and also to differentiate between those affected.

For example, you could say people rated > 30 should receive some ongoing financial support, or people < 10 do not need publicly funded services, or people > 50 need constant supervision, or people >70 cannot travel on the school bus without an assistant.  It is not rocket science.


Employment

You regularly hear about some big software company or another wanting to hire people with autism.  This further adds to the confusion of what autism is.  What they really mean is that they want people with a high IQ and autism 5/7.  So they have Asperger’s and have the occasional off-day, but nothing severe.  They are not going to throw the coffee jug at someone, or pee in the elevator.

The car wash where they hire people with “autism” is talking about the 30/40 type where everyone is glad that person is getting out of the house to work and in a loosely supervised environment, the odd behavioral “event” is acceptable.


Travel on Planes

You do hear horror stories about people with autism having tantrums on planes.  You could have a rule saying that people with autism peaking at 50 should have to notify the airline in advance, and then the pilot and crew are forewarned.  The airline can then make, and publish, its own policy of whether to accept such passengers.

Small children going berserk on a plane can be dealt with, but fully grown “children” may not be so easily controlled by their, then older, parents.


Conclusion

The better you can define a problem, the closer you are to a solution.  If other people use the same definition the easier it is to identify shared solutions.

Given the complex nature of autism and the huge numbers of people affected, it should be possible to do much better, so that similar clusters can be identified and people can then be more accurately treated.  As it stands today what might help 5% of people is tried on 100% and then, after a few failures, people give up.  We need to know more about those 5%; that applies to all the therapies that do seem to help some people. 

No fancy genetic testing is required to grade severity of autism and it is the most obvious place to start.

Change in severity of autism can really tell you a lot.

As usual, I should add, I do not expect any of this to happen.





15 comments:

  1. Autism, Intellectual Disability and Epilepsy all of which characterize my son's condition are, as I as a layperson read the literature, a very common group on the autism spectrum. When these 3 are present arguments about severity seem somewhat irrelevant. The severity is clear and obvious in daily life and shortened life expectancy.

    ReplyDelete
    Replies
    1. Harold, what you mean by severe can be completely different to what someone else means. This does matter.

      If your son has occasional, unexplained, swings in behavior leading to SIB and aggression (as my son did) this indicates that something has changed for the worse. I figured out why my son's autism became much more severe and now it rarely occurs. So for him, the change in severity was far from irrelevant. This same drug has since shown to be effective in other reader's of this blog. So you really can benefit from the insights of others, but you do need to know you are talking about the same "autism". I can tell you the parents of a child with Asperger's may consider their child's problems to be "severe", but they likely have little in common with those my son faces.

      Many forms of autism are now, to some extent, treatable using the literature. Autism, Intellectual Disability and Epilepsy are all implicated in the excitatory/inhibitory imbalance suggested by leading researchers, so it is not surprising that the same drug can improve all three, in sub-group of people. This same drug has been shown to improve MR/ID in Down Syndrome, suggesting the same excitatory/inhibitory imbalance. Several medical doctors who read this blog use this very cheap existing drug, with good results, even though the phase 3 autism trial has not been completed.

      Delete
  2. Sounds like a post is coming which is terrific, but wonder what you mean about b7 dysfunction and reaction to GAS antigens and b9 dysfunction and reaction to candida. Preview? Much gratitude

    ReplyDelete
  3. B7 relates to biotin and biotinidase (partial) deficiency covered in an earlier post.
    Aberrant immunological reactions to GAS antigens relates to subtypes of rheumatic fever. Some of which gets called PANDAS, but it likely broader.
    B9 (folate) relates to both central folate deficiency (ie within the CNS) and folate dysfunction in the entire body. Two separate disorders.
    Candida is something I was highly skeptical about having an effect in autism, but you can actually prove it affects some people by giving them a steroid asthma inhaler, which causes candida in the mouth, and then they show a big increase in stereotypy. So I am looking deeper.

    ReplyDelete
    Replies
    1. Are those columns/rows related -- biotin and GAS? B9 and Candida together? Thank you for all your work Peter....

      Delete
    2. No it is just two lists, one of some Primary causes and one of some Secondary causes. I am sure others could be added to the list.

      The idea is that in any person there may be multiple problems and this can account for why their autism may go in cycles.

      One reader gave their child a steroid asthma inhaler and it made the autism worse. This inhaler is known to cause candida in the mouth, when they had the child rinse his mouth with water after using the inhaler, there was no more candida and autism went back to normal.

      Delete
  4. "Double tap autism" can also apply to metabolic/mitochondrial disease.It is cyclical. You can start out at a 5 or 10,then have an acute illness,and quickly slide down to a 70 or 80.The longer you go without a severe illness,the more the autism can improve,on its own.If you go enough years without getting sick,the autism may go down to a 10 or 15.But any acute illness,at any age,can cause an acute regression,down to 80 or 90.This roller coaster ride was the story of my life until my underlying metabolic diseases were discovered.

    ReplyDelete
    Replies
    1. Thanks Roger, you are an excellent example of why variability in severity of autism is important and why each case should be fully investigated. I think most people are entirely unaware that someone who can write like you could ever exhibit moderate, let alone severe autism.

      Delete
    2. Six years of treatment can work wonders.

      Delete
  5. Hi Peter,
    How significant is Candida and Steroid use in trigerring autism, for my son, his symptoms seemed to go from 10 to like a 60, once we started him on inhaled steroids for asthma. Always wondering if they pushed him over the edge or he got a candida infection from them that caused, we did see some improvement after stopping them, but he still like at a 40. He has never been like before once we started using the steroids. There are some doctors in US, who are really focussed on Candida (GI Candida) being the primary reason for autism - and using Nystatin.
    Thanks
    BK

    ReplyDelete
    Replies
    1. There is a lot of pseudoscience surrounding candida, but it does indeed seem to do strange things in some people. That steroid is known to promote candida, so maybe it is still there. You can use Nystatin, even as a mouthwash.

      Delete
  6. It took me a long time to realize just how unique I was.What's more,I have documentation of how severe my autism was before I started treatment.Like most adults diagnosed with autism as children,the records of my original diagnosis are long destroyed.I was rediagnosed as an adult in 2008,by a head of developmental psychology at a large teaching hospital.This was after a prolonged,and mysterious febrile illness with hydrocephalus,that dragged on for months,and I nearly died from,causing one of the worst regressions of my life.The conclusion was I was too low functioning,and learning disabled to live on my own,that I needed to be in a residential treatment center under full time observation.My mother refused to sign the papers to do this.Both Dr. Frye and Dr. Rossignol have copies of this report.I lived with my mother right up until her death in 2012.She kept me out o an institution as a child.When she died,the hospital where she died dug into my records,and learned of the severity of my autism.A clear violation of the US HIPPA law.Adult Protective Services were called in.I was about to be hauled off to a home,without my knowledge.My landlord would not allow APS to enter the house.I was three years into treatment at this time,largely for cerebral folate deficiency.After seeing the improvements I had experienced up until that point,the case worker was able to see that I could live on my own,and closed the case.If you read the articles by Dr. Ramaekers,Dr. Frye,and Dr. Rossignol about cerebral folate deficiency,they all say the results can be dramatic,but as far as anyone knows,I am the only adult with autism diagnosed with it.

    ReplyDelete
    Replies
    1. Thank you Roger for all your valuable input. It's really informative to read your comments. I got appointments to see ( months away from now) both Dr. Frye and Dr. Rossignol. I hope they can help my daughter too.

      Delete
  7. Hi Peter, great post, I will be waiting for your post about aberrant immunological reactions to GAS antigens, i think this secondary dysfunction is very relevant t for my son. Valentina

    ReplyDelete
  8. Thank you Bhuvaneswari Muthusamy.T may prove more valuable to the general autism population than you think.Thanks to Dr. Frye and Dr. Rossignol,I was able to get a whole exome sequencing done in September 2015.It showed I have mutations,one is previously unknown,for an extremely rare single gene neuroimmune disease.One of a group of five or six such diseases,not known to exist with autism before.I am the first.Not only is it a whole new subtype of this disease,it might provide an explanation for a lot of children who regress after illness or vaccines,and have a lot of complex medical problems like I do.It also means,of course,that my cerebral folate deficiency is an inherited immune,not metabolic,condition,just as Dr. Ramaekers suggested in his original articles.Once everything is fleshed out,and,I hope,a study is published,it might connect a lot of dots.I will be going to UCLA for just this purpose sometime in 2016.

    Another goal of mine,is to try to see if I can convince my two sisters to have some of the tests I have had,and be included in any studies.I know very little about their overall medical picture.I know both are on the spectrum.I know one sister has what has been misdiagnosed as having "fibromyalgia" and is almost completely homebound.The other sister has high functioning autism,however,she has very severe bipolar disorder,and other mental health problems,diagnosed as a child.She also has epilepsy,type 1 diabetes,and other medical problems she will not discuss.

    ReplyDelete

Post a comment