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Showing posts with label Guide. Show all posts
Showing posts with label Guide. Show all posts

Saturday, 10 March 2018

A Thinking Person’s Brief Guide to Autism


I wrote this list because most people visit this blog and do not go any further into the details, either because they think this blog is nonsense, or it is just too complicated.

It certainly does sometimes get complicated, but complex subjects require detailed attention. There is little point in looking superficially.  Understanding autism science is not beyond most people’s ability, but it does take time. It will not cost you a penny. Then you can make up your own mind as what is a novel therapy and what is likely a quack therapy.


Some doctors do know best.  While your family doctor no doubt was taught autism is untreatable, some doctors who have a child with autism think differently and I do not mean MAPS/DAN doctors. Some mainstream doctors read the same research as me and successfully treat their child – an example of personalized medicine. In the ideal world they would all publish their experiences, but most keep it private.

Autism is not a biological medical diagnosis, it is just an observational diagnosis based on guidelines published in a book called the Diagnostic and Statistical Manual of Mental Disorders (DSM). These guidelines have changed substantially over time. We are currently on DSM 5; in 1987 it was DSM3 Revised. Most people diagnosed today with autism would not have been given that diagnosis under DSM 3. This is one key reason for the autism diagnosis “epidemic”, but there are other reasons.

A vast amount of scientific research already exists about autism. More is published every day and very helpful lay summaries are available for free on the internet on medical news websites and blogs like Paul Whiteley's Questioning Answers. There is also the Simon’s Foundation’s excellent website for non-scientists at www.spectrumnews.org.

There are hundreds of different known biological causes of autism.  Scientists have already created 267 different genetic mouse models of autism and 78 types of induced autism. 192 rescue models exist, where the scientist could reverse autism in the mouse.  If you can reverse it in a mouse, perhaps you can treat it in a child? Not crazy to at least try.
https://gene.sfari.org/database/animal-models/genetic-animal-models/

Some autism/MR/ID caused by rare errors of the metabolism is treatable today, by mainstream medicine. Clinicians in Vancouver maintain a database; they focus on Mental Retardation (MR) / Intellectual Disability (ID), but many of these conditions can also be diagnosed as autism.


Science and medicine are not the same. Medicine applies drugs that are shown effective in large clinical trials on people with the same biological disorder.  This is evidence-based medicine.  Where a disorder exists with multiple causes, medicine struggles to cope. Many illnesses have multiple causes, or unknown causes, for example dementia, depression, epilepsy, multiple sclerosis etc. and even conditions outside the brain like chronic prostatitis.

Medicine has many poorly effective drugs for neurological conditions. There are drugs for dementia, ALS (motor neuron disease), Parkinson’s, Huntington’s, Schizophrenia, Bipolar etc., but they are not curative - they are better than nothing, but sometimes not by much. Drugs for autism should be seen in this perspective; generally they will be partially effective and only in specific people with the same particular biological dysfunction. Drugs for ALS, Alzheimer’s etc. currently just treat some features of the disease, they do not address the cause; some of these features are shared by others brain disorders. So using an ALS drug to treat autism or schizophrenia is not a crazy idea, if the same biological features are present.

There are numerous well-researched biological features present in some autism. Some of these same features are present in unrelated, better-researched, medical conditions where often they are treated. For example:- oxidative stress, elevated pro-inflammatory cytokines and reduced anti-inflammatory cytokines, activated microglia, disturbed growth factors (BDNF, NGF, IGF-1, VEGF etc.), numerous ion channel and transporter dysfunctions (NKCC1, KCC2, Cav1.2 etc.), NMDA hypofunction or hyperfunction, reduced estrogen and ERβ, excitatory-inhibitory imbalance, glutamate excitotoxicity, impaired autophagy, unusual myelination etc. 

Autistic brains are not just “wired up differently”. Brains are not computers and while some things are fixed as in a computer, much inside your brain is changing all time and so can potentially be modified.  You can induce even “autism” in a perfectly normal brain (with propionic acid) and then reverse it.  A slightly better analogy might be an old out-of-tune piano; tuning the strings (wires) is a complex process, but results in much improved function. Autistic brains can be tuned to improve their function and the person’s wellbeing.

Vaccines can trigger mitochondrial disease in children, which will appear as autism. This was proved by Dr Jon Poling a US neurologist trained at Johns Hopkins, who won $1.5 million in compensation for his daughter. Here interviewed on CNN:-


Vaccines caused one little girl's autism, but that does not mean they caused it in your child. How widespread this problem might be is something Dr Poling does comment on, but it is not something anybody would research.  Johns Hopkins is home to some of the best autism and mitochondrial disease researchers and clinicians. They even developed a cheap therapy to minimize the risk of possible damage from vaccinations to their young patients who already have mitochondrial disease. 

Autism does not kill you?
Vaccines save millions of lives and even Dr Poling does not suggest avoiding them. People with severe autism do have a life expectancy of less than 40 years mainly due to death from seizures, drowning and other accidents. People with the Asperger's type of milder autism have a nine times elevated risk of suicide and a disturbingly a high proportion of the tiny number of mass killers have an Asperger's/autism diagnosis (the other large group have suffered a previous head injury). So autism clearly can have troubling consequences.  Teaching anyone to shoot a gun who has a neurological disorder (autism, bipolar, schizophrenia, even ADHD, Intermittent Explosive Disorder etc), severe enough to get a medical diagnosis, is asking for trouble.

Does Autism need to be treated?
Some of the people with the newly included mild autism protest about the idea of treating autism. A significant minority of deaf people think their children born without hearing should not receive cochlear implants and so remain with them in silence, but most hearing people would likely want their child disabled by hearing loss to be treated. Medically diagnosed autism is currently based on guidelines from a book of mental disorders (DSM5). Most people probably think disorders in a psychiatrist’s manual should be treated, even if the very people with those disorders think they are just fine - they do after all have a disorder potentially clouding their judgement. If their autism is so mild and not troubling at all, then it does not warrant a medical diagnosis. You can be different without needing a medical diagnosis to support it.

Many observational diagnoses like Autism, ADHD, Bipolar and Schizophrenia are overlapping biologically
. Genetic studies have shown people can have biological elements of more than one diagnosis. So you can have autism with a little Bipolar and a touch of ADHD.  This means that some therapies trialed in Schizophrenia may show a positive effect in some autism, for example.

Clinical trials in Autism have all ultimately failed. All of the many clinical trials in autism to date have been viewed as failures and part of the reason is that there is more than one autism. There is no easy way to tell which person has which type, so trials include many people who are bound not to be responders.

People treating autism are all quacks? There undoubtedly are many people making money out of the families affected by autism and where money is involved, you will always find quack therapies of one kind or another.

Personalized medicine is one way forward. In cancer care personalized medicine is already being used, where drugs are tailored to exactly what is wrong in a specific person.  With hundreds of different variants of autism personalized medicine would be the ideal solution, but it is many decades away for most people.

Autism clusters and nexus where multiple dysfunctions converge.  The realistic way to treat autism in the 2020s will be to group people into similar clusters, not perfect matches, and treat by cluster.  This is possible because it seems that multiple different dysfunctions converge at a manageable number of so-called nexus. This means that rather than several hundred unique therapies you have just a few tens of therapies. Each person is then matched with their Polypill of a handful of those few tens of therapies.

Autism is a condition of opposites. In autism very often both extremes of the same condition exist, making the average meaningless. On a simple level the research finds many big heads, but also a fair number of tiny heads. There is very high cholesterol and very low cholesterol. There are very high levels of a particular growth factor and then some with virtually none.   So do not expect what works for someone else’s autism, to necessarily work for your child’s autism.

Many drugs have multiple modes of action. Lay people assume that drugs do just one thing, be it lower blood pressure, lower cholesterol or act as a diuretic.  This is not the case; most common drugs have multiple effects. For example many antibiotics have completely unrelated anti-inflammatory effects. A diuretic that affects one ion channel in your kidneys can also affect a related one in your brain, so yes a diuretic can treat some people’s autism, it is not crazy.

Many existing drugs can be repurposed. Many drugs already exist that can potentially be repurposed to treat neurological conditions. Big drug firms like to develop new drugs because their patents allow them to charge very high prices. Existing drugs are often now cheap generics, with well-known safety profiles, that can potentially be used off-label in personalized medicine, based on intelligent use of the vast wealth of autism research.

Off-label prescribing used to be widespread; it is when a drug is used for an application other than that for which it has been officially approved. For example, the diuretic Spironolactone is widely used off-label to treat acne in females.  Modern doctors are less willing to prescribe off-label either because they insist on strictly following the rules, or do not want to take a risk of being blamed for an adverse reaction.  Treating autism will inevitably require off-label prescribing.

Personalized therapy for the few? Hopefully the mainstream doctors who currently successfully treat their own children will persuade more of their peers to try and treat others. Until then, or until a drug like Bumetanide finally passes its stage 3 clinical trials for autism, I do not think much will change.  A small number of parents do read the research and persuade their physician to help them and others evidently self-treat. For those who are truly motivated there are options, which is what really matters.