Showing posts with label SUDEP. Show all posts
Showing posts with label SUDEP. Show all posts

Tuesday 29 September 2020

Is the Door about to Close on Alternative Medical Treatments for Autism in France? Plus, more on Dravet Syndrome and RIP Charlotte Figi


I was talking to the organizers of an autism conference in the US and one question that came up was, do I know a clinician who prescribes potassium bromide (KBr).

It is a question that illustrates the problem in treating autism. In Germany, Austria and some neighbouring countries KBr is an established treatment for pediatric epilepsy and particularly some specific conditions like Dravet sydrome. Dravet syndrome is a rare, catastrophic, lifelong form of epilepsy which begins in the first year of life.  It is one of those conditions where parents in the UK are begging to use cannabis. Dravet syndrome may be accompanied by an autism diagnosis.  In the US KBr is currently only used for canine epilepsy.

Regular readers of this blog may recall that Dravet syndrome responds to potassium bromide (KBr) and should respond to low dose clonazepam (it works in the mouse model).

I proposed KBr as an autism therapy and even found an “autism” case history from 150 years ago. KBr was the only effective therapy for epilepsy back then, so a child with epilepsy and severe autism might be lucky and get KBr prescribed, as in the case history I highlighted.  It worked well for that little girl and she developed the ability to play appropriately with a doll - that is what caught my attention.

Is KBr a widely used autism therapy in Europe?  Definitely not.  Only a handful of people use it for autism, but it is an approved safe therapy for pediatric epilepsy.

KBr will have a similar effect on GABA as bumetanide, but via a different mechanism, (some Cl- gets replaced by Br- inside neurons, this lowers the Cl- concentration and so changes the effect of GABA).

The drawback with KBr is bromo-acne, or spots.  I suppose if your child has Dravet Syndrome, or very severe autism, you will not be bothered by some spots. 

150 years ago they used a potion containing arsenic to treat the spots, this was a very bad idea. Arsenic is poisonous.

Charlotte Figi, who was the inspiration for the popular medical cannabis strain called Charlotte's Web, had Dravet syndrome. She died this year, aged 13. 

I am told that you actually need some THC, rather than just CBD (cannabidiol), to be effective, but over time Charlotte’s commercial product contained less THC and I am told lost its effect.

Stiripentol, a positive allosteric modulator of GABAA receptors, is an approved therapy to treat Dravet Syndrome. 

Dravet syndrome is usually caused by the ion channel Nav1.1

You might wonder why does a sodium ion channel cause a defect in GABA signalling.


Delayed maturation of GABAergic signaling in the Scn1a and Scn1b mouse models of Dravet Syndrome

We found that GABAergic signaling remains immature in both DS models, with a depolarized reversal potential for GABAA-evoked currents compared to wildtype in the third postnatal week. Treatment of Scn1b−/− mice with bumetanide resulted in a delay in SUDEP onset compared to controls in a subset of mice, without prevention of seizure activity or amelioration of failure to thrive. We propose that delayed maturation of GABAergic signaling may contribute to epileptogenesis in SCN1B- and SCN1A-linked DS. Thus, targeting the polarity of GABAergic signaling in brain may be an effective therapeutic strategy to reduce SUDEP risk in DS.


SUDEP is Sudden Unexpected Death in Epilepsy and this is what is likely to occur in about 1 in 5 children with Dravet Syndrome. These deaths would appear to be, to some extent, preventable if you read the science and apply it.

This takes me to France where well-intentioned Autism Moms/Mamans are seeking to rein in 50 French doctors thought to be prescribing autism therapies off-label to 5,000 children.

Are these crazy therapies? or beneficial therapies? or perhaps a mixture of both?  For sure they are unorthodox therapies.

Olivia Cattan thinks French Moms/Mamans should be using behavioral methods (ABA, TEACCH etc) because they worked well for her young son.  Her charity, SOS Autisme, is trying to stop French doctors treating other people’s children with autism. 

The same thing happened a few years ago in the UK. A lone UK doctor was prescribing drugs to children with autism, word spread and other doctors reported him the medical regulator, who banned him from seeing patients with autism.

The US is the Wild West by comparison – anything goes.  A doctor can tweet "vaccines DO cause autism" and there are no consequences. Today, governments around the world are buying up future Covid-19 vaccines for their citizens and one factor in agreeing the price is whether the government indemnifies the producer for legal claims due to vaccine side effects. Rare side effects are possible even with a "good" vaccine.

I did ask Dr Frye about MAPS doctors getting into trouble with the authorities.  He told me the big issue is the occasional divorced spouse who objects to a child’s therapy.

France probes doctors prescribing antibiotics for autism

French prosecutors said Thursday that they had opened an inquiry into dozens of doctors prescribing antibiotics and other drugs as a purported treatment for autism in children, potentially endangering their health.

French prosecutors said Thursday that they had opened an inquiry into dozens of doctors prescribing antibiotics and other drugs as a purported treatment for autism in children, potentially endangering their health. The investigation comes after an alert by France's ANSM medicines watchdog that doctors were prescribing long-term courses of antibiotics and drugs against metal poisoning to autistic children. According to Olivia Cattan, who heads the help group SOS Autisme and has written a book on the practice, some 50 doctors in France are thought to be treating up to 5,000 children this way. Such prescriptions have been linked to controversial ideas from Nobel Medicine Prize laureate Luc Montagnier, honored in 2008 for his co-discovery of the virus that causes AIDS, but frequently dismissed by the medical community for his unconventional ideas in recent years.

The Paris prosecutor's office said its public health department has been entrusted with the probe into charges of "endangering the lives of others" and "offences related to research involving human beings." On Tuesday, the ANSM said it had referred the matter, flagged by Cattan, to prosecutors after collecting evidence including parents' testimony and prescription sheets. The watchdog said the children were prescribed antibiotics, anti-fungal, anti-parasitic or anti-viral drugs, as well as treatments for heavy metal ingestion that are normally reserved for use in case of poisoning. The ANSM "formally advises against these uses, for which these drugs have not shown to be effective and which put these children at risk, particularly with prolonged use." Effects can include digestive, cardiovascular and skin disorders, while misuse of antibiotics can lead to drug resistance that undermines the effectiveness of future treatments. The ANSM has also alerted French doctors' and pharmacists' associations. 

According to SOS Autisme:-

L’autisme n’est pas une déficience mentale, ce n’est pas une maladie, ce n’est pas une fatalité, et cela peut toucher tout le monde.

Aujourd’hui, grâce aux méthodes cognitives (ABA, Teach, Feuerstein, Pecs…). tous nos enfants peuvent progresser et devenir des êtres autonomes, des citoyens qui fondent une famille et qui travaillent.


Autism is not a mental disability, it is not a disease, it is not a destiny, and it can affect anyone.

Today, thanks to cognitive methods (ABA, TEACCH, Feuerstein, PECS ...). all our children can progress and become independent, people who start a family and who work.


The highlighted part in yellow would be great if this was true, but it is not.  Tell that to the Paris Prosecutor.

All these behavioral therapies can help, but go and look at autistic people born in the 1990s in the US, who had rich parents and who used ABA, TEACCH, PECS etc, for two decades.

Are they all now independent people who started a family and who hold down a meaningful job?  No.

Sadly, they are either still living at home with Mom and Dad, or they got packed off to live in a group home, or some other sheltered living accommodation. Life expectancy is short and parents are likely to outlive their child.

If you want to know autism reality to adulthood, go and talk to old hands with no vested interest like Catherine Lord, Bryna Siegel or even Manuel Casanova. 



There are many obstacles to treating and educating a child with severe autism and this is clearly reflected in the outcome in adulthood.  

Where you live can matter much more than how much money you have.

Yes, there are some crazy sounding autism therapies.

Yes, there are some people seeking to make a lot of money out of gullible parents.

Yes, there are labs overcharging for "special" diagnostic tests.

But, that is not the complete picture.

There are also some therapies that might look bizarre to a lay person, but if you read the science, they are very well founded.  They are experimental therapies.

The risks of not treating severe autism are huge; death due to seizures, drowning and accidents are very common and according to the Karolinska Institute such people have a life expectancy of under 40 years.   Too many continue to die in childhood. 

I am no fan of DAN doctors, but it looks like only one death has ever been associated with their treatment.  In 2005 a British boy was given intravenous chelation in a clinic near Pittsburgh; he went into cardiac arrest and died.

The French lady behind SOS Autisme is a big fan of ABA and I hope her son is fully functional when he reaches adulthood. Most children with severe autism become adults with severe autism, regardless of how much ABA therapy they receive, they are just more functional. Their life has no fairy tale ending.

For a transformative effect on outcome, you have to address the biological problems.  By all means, combine this with whatever educational therapy works for the child.   I am also a fan of ABA, but a realistic one; I continue to see its benefits. But, no amount of ABA could teach my son even basic mathematics, I know, I tried it to the age of 9.  Now he can do algebra and solve equations, sometimes better than his NT classmates. I am delighted to contradict SOS Autisme - autism is a mental disability and it is a disease, but it is treatable. 

Personalized therapy / precision medicine does not lend itself to clinical trials with thousands of participants, by definition you are treating a rare combination of dysfunctions. 

The important thing is that personalized therapy must be both safe and effective.

No progress without some ruffled feathers.




Sunday 20 September 2015

A New School Year – Still keeping up

Before I return to the science-heavy posts, this is another post to encourage people not just to read about autism, but to treat it.  No pseudoscience or great expense is required.

After close to three years of using biology, rather than just behavioral therapy, where have we got to?

Acquiring new skills is effortless for clever typical kids; we have also got one of those.  For kids with classic autism, even the most basic skills need to be taught and taught again, until eventually, they might sink in.  I do not think this has anything to do with permanent MR/ID (mental retardation/intellectual disability), although I can see why it often gets diagnosed as such; it turns out to be treatable.

In the race to keep up with the typical kids, or at least keep them in sight, we started with ABA and about 1,800 hours a year of 1:1 time with an assistant.  After a few years the typical kids had pulled far ahead.

At age 9, I started to correct the underlying dysfunctions, first with Bumetanide, using very recent findings in the scientific literature.  This coincided with the decision to change his (neurotypical) peer group at school to those 2-3 years his junior.  Time was reset.

We still had the 1,800 hours a year of 1:1 time with an assistant, half at school and half at home.

At age 12, the original peer group is now far out of sight, but after three years we are still keeping up academically with the new “friends at school”.

Monty, now aged 12 with ASD, is in the same small mainstream international school he has attended for eight years.  Three years ago I held him back two years, since he was becoming completely “un-includable”.  So we went Year 1, Year 2, Year 3 then back to Year 2, then Year 3, Year 4 and now Year 5. 

Since most readers are American, where school starts one year later, to convert UK school year to US grade, just subtract one.  UK Year 5 = US 4th grade.  In the US you finish in 12th Grade whereas in the UK system you finish in Year 13, both typically in your 18th year. (so in the US system, he went K, 1st, 2nd, then 1st, 2nd 3rd and now 4th)

Many kids with autism are now “included” in mainstream education, but in reality some are just having a private 1:1 lesson with their assistant at the back of the class. This is not a good idea; for the last three years Monty has been able to follow the teacher.  If you cannot follow the teacher, you really should not be in that class.

We have a new class teacher, an American, he has been teaching for 15 years, but has never had a special needs kid before; that in itself tells you something.  Now he has Monty, aged 12 with “treated” classic autism, something he probably will never see again.

After a couple of weeks, his conclusion is “he can read nicely and do the exercises”.  This makes it sound rather a non-event.  A few short years ago, his school teachers were rather stunned that his 1:1 assistant got him to read very simple words.  Now he can read aloud from “chapter books” to the rest of the class.   

When they had a spelling test (words like graduate, icicles, sausages) he got 18/20 and one of the new girls in class told her mother how clever Monty is.  When told he has “special needs” and an assistant, she replied “special needs … no special needs”.  That was nice, but Monty does still have plenty of special needs, but for three years he has been able to move forward academically at a similar rate to his classmates, albeit that they are all 2 years his junior.  That progression is quite extraordinary, if you know about outcomes in classic autism. 

Having been using ABA for five years prior to starting with the biology/pharmacology, and seen steady but slow progress and so falling ever further behind his peers, I never expected to be here in 2015 with Monty being able to subtract 7,794 from 9,621, or add up 8,756 + 4,326 + 7,832, interpret data from graphs and use x,y coordinates.  Until five years ago he did not even attend numeracy/math classes at school, because we had to focus on basic speech, basic reading and things like standing in line and changing shoes.

I have no idea how far he can go. I was expecting by now to again have to repeat a school year, but it has not been necessary.

Behavioral problems (SIB, anxiety, aggression etc.) were generally rooted in biology and have been more than 90% treatable.

With neither behavioral, nor pharmacological intervention, it would not now be a pretty sight.

It is sad that almost nobody treats Classic Autism pharmacologically; there are so many unnecessary, unhappy, consequences, lives sometimes lost to what can be a treatable condition.

It also appears likely that by treating the dysfunctions in Classic Autism, you may avoid the possible later progression to epilepsy/seizures and all the problems that may cause (even SUDEP, drowning etc).  This was something we had been warned might develop, but now looks much less likely.  For some people, seizures are a bigger issue than their autism. Some data, for those interested:-

This is among the largest studies to date of children with ASD and co-occurring epilepsy. Our sample includes 5,815 participants with ASD, 289 of whom had co-morbid epilepsy. Using statistical modeling in this well-powered sample of patients we have made several important observations about a contemporary group of individuals with ASD and epilepsy. We identified several correlates of epilepsy in children with ASD including older age, lower cognitive and adaptive functioning, poorer language skills, a history of developmental regression, and more severe ASD symptoms. Through multivariate logistic regression we found that only age and cognitive ability were independent predictors of epilepsy.

The average prevalence of epilepsy among children aged 2 to 17 years in our population-based sample, the NSCH, was 12.5%. This estimate is comparable to a recent report of a 15.5% rate of epilepsy in another population-based sample of children with ASD. While the prevalence was 10% or lower in children under 13 years of age, by adolescence it reached 26.2%. Therefore, the best estimate of the cumulative prevalence of epilepsy in ASD through 17 years of age is 26%. Our study replicates findings from prior studies that have followed children with ASD into adolescence/early adulthood and reported epilepsy prevalence rates from 22% to 38%

Note that Classic Autism accounts for about 30% of ASD; it is not hard to guess where you would find most of the 26% with ASD who later develop epilepsy.  

Odd epileptiform activity (seen on an EEG), falling short of epilepsy, is common in young children with autism and I think might be considered as pre-epilepsy.  Just as someone who has prediabetes has the chance to do something about it, before it progresses to type II diabetes, unusual EEG activity should prompt consideration of a treatable excitatory/inhibitory imbalance. 


At least I have treated the only autism case I am responsible for. I encourage others to do the same; it is never too late, even in adulthood.  We have one reader, Roger, who got his core biological autism dysfunction diagnosed and treated in adulthood.

If you prefer to wait for 100% FDA-guaranteed solutions, you will wait forever.