Monday, 19 October 2020

Synchrony 2020 and Back to School with Covid


I am giving a presentation in November at an online autism conference called Synchrony 2020. It is organized by a group of parents of children with autism.  You can read all about it here:


If you want to attend this virtual conference there is a coupon code for readers of this blog: -


I am told the coupon code applies only to Early Bird and Regular Price, not to the Day Pass. 

Our doctor reader Agnieszka gave a presentation at this event last year.

This year Dr Ben-Ari is going to talk about Bumetanide and I am then talking about 8 years of using Bumetanide.

The proceeds go towards the Brain Foundation’s funding of autism research. 

The Brain Foundation

Our mission is to support translational research that will lead to the development of FDA-approved treatments and an improved standard of care for co-morbidities in individuals with autism spectrum disorder. 

I suppose my mission is to take the fast track, by repurposing existing approved drugs and skip the part requiring $30 million and 15 years to get FDA approval, specific to autism, for each drug.

As you would expect, most of the presenters are medical doctors or medical researchers. 

I did point out to the organizers that many of these people are not going to like what I do.  They spend decades researching autism and here comes Peter, not a doctor, developing therapies by repurposing existing drugs. 

There will be nothing controversial in my presentation, I am just talking about the effects of long-term Bumetanide therapy.

Doctors who have a child with autism do see things differently. I had a British pediatrician come up to me at an event and just about the first thing he said was “I want to do for my daughter, what you have done for your son”.  Good luck to him.

I did my bit to help the conference organisers by asking Dr Ben-Ari to present about Bumetanide.

Dr Ben-Ari does read this blog and I know he does not entirely approve of my methods.  If I did not have a child with autism, I would also not approve of my methods. Necessity is the mother of invention.

A classic example of medical dithering appeared in a recent meta-analysis of the research into the use of NAC in autism.

The review concludes that NAC is safe to use and does reduce some key symptoms of autism, but then adds the caveat “However, further evidence should be sought before a general recommendation.”

So, NAC is cheap, safe and effective, but don’t use it. 

Effectiveness of N-acetylcysteine in autism spectrum disorders: A meta-analysis of randomized controlled trials

Conclusion: We concluded that N-acetylcysteine is safe and tolerable, reduces hyperactivity and irritability and enhances social awareness in children with autism spectrum disorder. However, further evidence should be sought before a general recommendation. 

Incidentally, the FDA do not seem to like NAC being sold as a supplement in the US.  NAC is very popular and it is included in hundreds of OTC products, so banning it would not go unnoticed.  They are not concerned on safety grounds. Some drug producers seem to want it to be exclusively an expensive prescription drug. 

I think the Brain Foundation has noble goals and good luck to them.

I suspect Dr Ben-Ari’s what will be 15-year push to get Bumetanide adopted as an approved autism therapy will have the most transformative impact. Good luck to him too. 


Back to School with Covid 

After several months break, Monty started back at school on September 1st.  The only significant difference from before is that everyone is wearing a mask. School is 5 days a week from 8.30am to 3.30pm, as before.

Nobody likes wearing a mask, but it is just something you currently have to do.  Monty, like most people with autism, can cope just fine wearing a mask.  Some people need to practise, others do not.  Without a mask there would be no school.

Online learning at home actually worked very well, with lessons via Zoom.  We are not new to the idea of home schooling; Monty’s 1:1 assistants have been teaching him at home since he was 4 years old.  Our current assistant was happy to come during the lockdown period.

It is much more fun to actually go to school.

Monty, now aged 17, attends a mainstream international school that follows the English curriculum.  He has no IEP (Individual Education Plan), so he does the same work and has the same tests as everyone else. Because I held him back 2 years at the age of 9, his classmates are 15-year olds.

He is remarkably well included, particularly by the girls.  In kindergarten and junior school there often is a little girl who takes a special interest in the cute little boy with classic autism, but this can fade away as the girl heads to puberty and the cute little boy becomes adult-sized, with not so cute classic autism.

I heard an endearing anecdote from Monty’s Assistant.  Two of the girls in class have been reading on the internet about boarding/residential schools. They found a school they liked the look of in Holland and asked our Assistant “would Monty’s parents allow him to come with us?  Look, it says they have 24-hour provision for those with special needs”.  I doubt they will actually be changing schools, but it was nice they kept Monty in mind. 

As I mentioned in previous posts, it does help to have a younger Assistant, if you want to promote social interactions with teenage classmates. Our Assistant has a sister the same age as Monty’s peers.

I did ask our Assistant why she thinks people are so nice to Monty; there are other people at school who are ignored by their peers and are pretty miserable. “Oh, he’s so cute, he says funny things in class and acts differently, look how he sits nicely and he’s the only one that eats properly; he also knows what is on the lunch menu and people come and ask him”, was the first response.  There must be more to do with it than that.   

There is a girl with spots who everyone ignores, do they really ignore her because of her spots?

As regular readers may recall, there is an interesting therapy for Aspie girls with spots.  Spironolactone, which lowers male hormones, will reduce acne in girls, but will also affect ROR alpha which determines the expression of many autism genes. So, both acne and autism might improve. Then add a squirt of oxytocin, or an oxytocin inducing gut bacteria and watch what happens.

I did see an interesting paper about children with autism who are flourishing at home with remote learning during covid.  The paper is about high functioning children (HFA in the text below), but some children with Classic autism also prefer life at home.


Debate: Remote learning during COVID‐19 for children with high functioning autism spectrum disorder 

Over the past 6 months, many children with HFA have told us they enjoy learning from home for a variety of reasons. They do not need to worry about whom to sit with at lunch, or be annoyed by the frequent changing classes, or have to tolerate the aversiveness of the school bell ringing, or the smell of the cafeteria. They report feeling liberated by not having to try so hard to fit in with the neurotypical world while trying to thrive academically. The anxiety, demoralization, and depression that have plagued them when in school have dissipated. Ironically, then, COVID‐19 has allowed many children like Stephan, who are oftentimes silently suffering, to flourish at home in ways that they could not do while in the regular classroom setting. We speculate that by eliminating the demands of the elusive, ‘hidden curriculum’, such children now expend their emotional and cognitive resources on the formal curriculum, which has resulted in improved grades and improved mental health. The following example illustrates this point … 

I advocate teaching the "hidden curriculum" to pre-teen Aspies, so they do not have a miserable time in high school and later in life, perhaps becoming an autism self-advocate. I would also use the buddy system to pair them with a slightly older outgoing neurotypical girl.

It looks like many of the parents of children with severe autism are ones that really do not like remote learning during Covid.  In some cases, they do not try to engage in remote learning.  If they were already teaching their child pre-Covid, it would not have been so difficult.

In some countries public schooling provides a seamless service year-round picking up the child from home and bringing him/her home at the end of day, setting both parents free.  You then become totally dependent on this level of service.  We never had that kind of support, so had to create our own independent approach.



  1. Great post, Peter. We will definitely try to attend the Symposium. Butenamide has a long way to go here in the States. Our pediatrician hesitantly prescribed it but the pharmacist always gives us a stern warning about it, to force liquids, etc. She thinks we're idiots and that she's being helpful, so one must smile and nod.
    On that subject, I would love to know if anyone else has been having side effects of daily butenamide use? My son has had a terrible time with gut dysmotility for the past year, and I've narrowed it down to butenamide as the culprit. His diet is predictable and healthy and I give him a fiber supplement everyday. I've tried to wean him off the it for a week here and there, and have noticed improvements with his bm, but also a corresponding drop in positive effects like attention span, learning ability. Currently we are 1/2 pill a day to try to lessen the negative side effects. I really don't know why he has bathroom issues except that perhaps it could be muscular weakness. There are some anecdotal reports online of users having myopathy as a side effect of it, but they were all adults with other conditions. Otherwise, it could be dehydration, but again it seems unlikely as he drinks quite a lot of liquid every day. I'm stumped, and since there is no other drug that would have the same effect without a similar side effect, I guess I'll leave it at that for now.

    If anyone has any thoughts on this, I'd love to hear them.

    Would adding the clonazepam microdose to 1/2 butenamide perhaps provide a similar effect?

    As for school, we have done homeschooling for 8 years now with both kids. Our homeschoolers co-operative group that my husband hosts has decided to quit academics during covid and simply focus on social and character building activities outdoors so masks are not needed. Libraries are closed to groups still and that was where they would meet. My youngest with asd/apraxia has never attended these groups, though I'd like to include him sometime next year. Most of the kids are young teens so a 7 year old would feel left out, though they are very nice and inclusive but also typical teenagers. My son would probably not enjoy it at first, he is most comfortable at home and is terribly shy, though not adverse to a situation if a young girl is in attendance. In fact, at our last birthday party for older brother, our youngest headed straight for the group of 12 year old girls that sat together at a table outside. I think he has something figured out ahead of us adults on this whole socialization thing! Indeed many times I pinch myself, as he is almost psychic in some situations with strangers, like he can read underlying signals about people that we perhaps ignore. More and more I wonder if something incredible is being overlooked in our children, and we simply do not have eyes to see...not yet at least.

    Hope everyone is having a wonderful school year and hopefully a Happy Halloween.


    1. MKate, Bumetanide itself is not usually associated with GI side effects, if electrolytes are normal and there is no dehydration.

      Potassium supplements are a known cause of GI irritation. It is best to dissolve them in a glass of water, to avoid this.

      Some people are allergic to other things, particularly colorants, that may be in the pill. The yellow color is a known issue for some people.

      A small number of people have a sulfa allergy, which may be your issue.

      This is also called a sulfonamide allergy. Bumetanide is a sulfonamide drug.

      There are many sulfonamide drugs and eventually most people will discover their allergy.

      Low dose clonazepam is a good alternative if you do find the problem is sulfonamide allergy.

    2. Thanks for the reply, Peter.

      As expected allergies have flared from nearby farms making hay, along with our many old trees shedding their leaves, making everything more complicated. Logically, I can only assume that bumetanide may no longer work for him as his energy levels have been consistently low, along with consistent gut dysmotility. I just felt it was a trade off for increased attention and learning. Allergies are held in check year round with a variety of medications, including montelukast, naltrexone, clemastine, OTC allergy meds. They vary accordingly. He takes in a multivitamin, NAC, Mg/K, fish oil and mito cocktail on top of that. The mito cocktail has actually made the myopathy a bit better, so those ingredients are not on my suspect list. Nothing has helped the dysmotility other than suppositories, which we've used almost daily for the better part of a year. Not good, for any of us.
      Thinking back to when he was 4.5, when we put him on a consistent daily 1mg of bumetanide, he had much more energy to play and get outside yet was also quite hyperactive and had little attention for directed learning. Going to the bathroom wasn't an issue. That went completely in reverse after about 3 months on the bumetanide--much more willing to sit, and talk more, but also unwilling to even go for a short walk or play outside and totally stalled going #2.
      I have trialed the low dose clonazepam the past 3 days, with .5mg bumetanide, but am not seeing much of an improvement. The lack of attn. from decreasing the bumetanide is apparent, the clonazepam does not seem to be picking up the slack. Again allergies may be interfering so will keep it up another few days.

      Im thinking of trying to get some Diamox to see if that might replace the bumetanide. However, I think it also works similarly so quite possibly could trigger the same gut-brain reaction cascade.

      Bumetanide works good for his brain, horrible for his digestion and overall energy level.

      Thanks again for the feedback, as always.


    3. Quick and crazy question concerning Ibuprofen and Ponstan-- Does anyone have any idea why a child might cry and be very emotional as the effect of a dose wears off? Other than pain, that is. Possibly a dopamine backlash? I trialed two small doses of Ponstan on my son yesterday and he did well with them, very easygoing though not much can be inferred after a few doses. However, as the second dose wore off last evening, he became extremely emotional out of nowhere, sobbing and crying about absolutely nothing! He wasn't hurting or in any pain but I'm not sure I want to continue with Ponstan now. I was trying to see if it had any positive behavioral effects by way of Ca channelopathy, but it would take at least a few days. He has had similar reactions, though not as intense, with Ibuprofen in the past when pain was a factor, so I thought nothing of it. He rarely takes it these days anyway as he hates the taste.
      However, this corroborating reaction from another NSAID is intriguing... and now I really want to know what's going on.

      Any thoughts are welcome from anyone with any experience with Ponstan or a similar reaction to NSAIDS.


    4. Sorry MKate, I haven't experienced this. Pain is absolutely a big suspect. I wouldn't give up after just one try, and anyway it sounds like he was better on Ponstan than off?
      I *think* Ponstan should not be taken together with Bumetanide, so better check it up if you are still using it.


  2. Hi Peter,

    Hope all is well!

    First, I'll definitely be there for Synchrony. The speaker line-up looks great, and the opportunity to ask questions in real time of so many key researchers is quite rare.

    "I did point out to the organizers that many of these people are not going to like what I do."

    Well Peter, we LOVE what you do! :-) And we appreciative parents outnumber those docs by quite a large margin.

    "They spend decades researching autism and here comes Peter, not a doctor, developing therapies by repurposing existing drugs."

    And yet, when I look at how many actual people they've helped versus you Peter ... well, let's just say I'll happily take "not a doctor" (but very bright, pragmatic, and resourceful) over a "doctor" who has spent decades in the lab without having improved a single person, and who doesn't expect to (or is in any rush to) in the next decade or two, any day.

    The very simple fact of the matter, from my perspective, is this. A solution down the road is fine for those with no skin in the game. For those of us who are very pragmatic and dedicated and have a lot of skin in the game, a solution via the standard channel will simply take far too long, and I am not willing to wait and give up on my child. I think I probably speak for many on this board.

    And there is no population more determined than ASD parents.

    On another note Peter, I'm really happy for you and your family in terms of how well Monty is doing. What you've been able to accomplish with Monty is incredible, and I'll be curious to see the reaction of the establishment at the conference.

    We are about to have our IEP amended to accommodate for some of our daughter's learning challenges, and I look forward to the day we no longer need an IEP.

    Have a great day Peter!


  3. Hello Peter, congratulations for your participation in Synchrony. It's great that your son is doing so well. Your Blog is the first one I follow, it has impacted our lives and I've learned that treatment with off-label drugs is more economically accessible for many people.

    I guess that for one to adventure to do many things there has to be a great necessity, that has been my case and it may be the case of many others, and yes there will be people that don't like it, but it may be that they need to be in the same situation for there to be a change of opinion.

    Here where I live there has been recently a case of a teacher that mistreated a University student with Aspergers through a Meet class and the teacher defended himself stating that in the real world in a job that's going to happen and that all his students are treated this way, but I do think he went too far, he said many hurtful things and that he would reprobate his exam because of intelectual disability, he later said that he didn't know he was Aspergers but that he wasn't a nanny. So everyone is talking about neurodiversity and how there should be tolerance, acceptance and respect, but I think it should always be that way, in every situation.

    I've been told that I should accept my child as he is, and I think it is important to accept the fact that he will always be autistic, but if a treatment can improve his quality of life I think it's worth it, it doesn't mean that I want to change him.

  4. Autoantibody and autism spectrum disorder: A systematic review

    "ASD children were more likely to show higher levels of FRAAs, anti-MAG, anti-MBP, anti-ribosome P, AECAs, and ANA"


  5. Having seen last years Synchrony symposium I'd say that most of the presenters must be of the progressive kind, and that they likely are hand-picked because they actually try to treat kids. It will be great to watch this year! :-)

    I'm also happy that Monthy is fitting in socially, be it in his own way. Being accepted means a lot.
    I'm struggling with my little one who prefers to play alone even when she's offered nice little neighborhood girls who politely come asking things like "do you want to see my baby brother?". So sad.


    1. Ling, maybe you can try playing with puppets of her favorite characters, today I played with my son and he really liked them, he started to interact with them and wanted me to be hidden. They were paper puppets, only the head but they open and close their mouth :

    2. Ling, did you try giving your daughter the Swedish Bioagaia Protectis probiotic drops?

      If you did not try them, I would strongly recommend you try them. They are meant for babies, but being in a liquid form you can add to any drink or food. The effect comes quite fast.

      The bacteria produces an increase in oxytocin in the brain, which does make people more emotional/social. This might make your daughter engage in play with others.

      If you have not trialed bumetanide yet, I would also suggest doing that, because engaging in appropriate play is a feature of correcting an excitatory/inhibitory imbalance.

    3. Thank you both for your responses, those are good ideas and I've employed them from an early point of time. I believe the issue is something else here though, because my daughter can play with us in the family and likes social roleplay far more than building stuff etc.
      I think she just understands how socially and motorically superior the other kids are that she will never have a chance... Add to that general anxiety. Maybe it's social phobia.


    4. Hi Ling, I totally get it. When it's just us (especially me), my daughter can be so funny and interactive and playful, but as soon as there are other people around, she isn't the same at all.

      I wish her classmates could see how playful and funny she can be, but I suspect she is only like that with me and my wife, and my parents, even then, it takes her a few minutes to warm up to us if we haven't played for a couple of hours.

      This is especially true when she first sees someone in a social setting (especially if it's someone she knows from one setting in a different setting). So if for example she sees her teacher at the store, it throws her off, and she doesn't want to interact with them.

      Ling, one thought I've had for a while, but haven't gotten to yet, is to look into conditions where the patients are extra sociable. I know a family where their child has Down Syndrome, and their daughter is super friendly. Her dad told me that DS kids are often this way. I also know there are other conditions (e.g. Williams Syndrome) where this is a feature.

      Check out this link:

      I wonder if there is a pathway or pathways that we can identify from such conditions that result in extra sociability, and then see if there are available ways to affect those pathways. Just a thought, but it may be worthwhile at least taking a look. Even if it takes a child from lack of interest in social interaction to average (versus extra sociable), that would be a huge victory.

      As always Ling, hope all is well, and if we lived near each other, your little one would definitely have a friend in my little girl! :-)


    5. AJ, there are 215 genes on chromosome 21, which people with DS may have an extra copy of. Perhaps, hidden away, there is a "happy" gene. Find which one and never work again!

    6. AJ, the description of your daughter highly resonates here. Even familiar faces, when unexpected, make her want to hide. It's funny because she is OK with crowds, but not so much with 4-5 guests at home. We usually tell people she has a warm-up time of about an hour.
      She actually got an invitation recently to a birthday party with her kindergarten mates (wow!), but we had to go home again as the situation was too stressful for her. Almost crying and signing "home" directly upon arrival. Ouch.

      It's interesting that in my daughter's condition, kids are described as "jovial" and "friendly" in 80% of the cases. And she was a very social baby, before picking up autistic tendencies. Makes me think it might be part of the "sickness behavior" linked to neuroinflammation.
      I have a hypothesis that genetic conditions with low E/low I results in more social abilities than high E/low I. Ketamine use (NMDA antagonist) seem to make one care less, and is used as an antidepressant.


    7. Ling, I think I know what you are describing about your daughter - maybe? Kind of like a performance anxiety when around people who see autism first and change *their* interactions. Family, and siblings especially, treat them more naturally. My son has an older brother who never treated him differently or approached him like a therapist would and he was one of his favorite people. He always did better and was more engaged with more natural approaches or with people who didn’t know a thing about autism - like surf camp or white water rafting guides or the zip line people.. don’t worry - it will get better.

    8. @Peter - I like the "never work again!" part of that :-) Finding which of the 215 genes has that effect is the bigger part of the challenge, I know. I had hoped there was some research into this but I haven't had time yet to Pubmed it. I have actually explained to people your point about "gene dosage " being the issue with DS as opposed to a mutation in the code. In essence, as you know, with DS, they are getting a +50% of the proteins coded on chromosome 21, while those with loss of function mutations in ASD are essentially experiencing the opposite (i.e. a -50% of the protein(s) coded by the relevant gene).

      I guess 215 genes is a lot more manageable to research that ~20,000 ;-)

      Have a great day Peter, and I'm looking forward to your presentation at Synchrony!


    9. @Ling,

      Hi Ling! Your description of the "warm-up" period really resonates with me.

      So I always know how to make my daughter laugh, and do things that get her to be really interactive with me, but there is always a "warm-up" period. So in the pre-Covid days, I would get home from work, and my daughter was on her ipad mini, and when I walked in, should not even look up. Then I would say "Hi, how your day", she would respond with something like "no daddy, go to work daddy". So I would then have to do or say some things that would warm her back up to me, before she would interact with me in a fun and positive way again.

      And your description of birthday parties ... yup, we get the same. She seems interested in going, but when we show up, it's "Let's go home, home time". We did go to one party before COVID in a trampoline park, and she loved it, but also didn't interact with the other kids, just jumped around (hence why no requests to go home).

      I'll give you one more example from just this last weekend. We're Catholic and so this last weekend was first communion for my daughter's class. So for the week leading up to it, we practiced what she needed to do. Just go up, cup your hands together, let them put the communion wafer in your hands, say "amen" and put the wafer in your mouth and walk away. Simple, right? Well ... not quite.

      All the other kids in front of us performed flawlessly, as if they had been choreographing for months. As we were one family behind the front of the line, I could tell my daughter was getting nervous. The fact that the nun looked uncannily like Marty Feldman may not have helped ;-) As soon as we got to the front of the line, my daughter reacted to the wafer like it was a piece of burning coal. She started loudly saying "No!" and backing away, almost falling as we tried to keep her there. The nun's expression looked like she was about to ask for an exorcism. They quickly realized this wasn't the usual kid, and gave the wafer to my wife to give to our daughter. As we walked back to our pew, I knew my wife was mortified. Once we sat down, my daughter was OK again, but did loudly exclaim "yucky" at her first nibble of the wafer.

      Just to put the cherry on top of this wonderful Sundae, my daughter did something that actually made me laugh (inside) but I know mortified my wife further. At the end of the ceremony, they were thanking those who helped around the church, and at the mention of a custodian (who we do not know) my daughter burst out in loud applause ... no one else was applauding...I think even the custodian was surprised by this unexpected show of appreciation.

      I'm someone who doesn't really care what other people think, and I'm more concerned about how my daughter is doing than the reaction of others to her behavior, but I'm hoping that by sharing this story, everyone knows that they're not the only ones who experience stuff like this. Even if it feels like it.

      Just a final note on this story - our school principal, who is genuinely a wonderful kind man, saw us at school and came over to tell our daughter that when he had his first communion, he was also terrified so not to worry about how she reacted. That really made my wife feel better.


    10. cont'd

      It is interesting about your daughter not fitting into the common phenotype for mutations in your gene. My daughter is absolutely the same. One concept (other than the fact that her known mutation might not be the true cause of her issues) is the concept of other (seemingly unrelated) versions of genes being a factor. That is, due to allelic variation of other genes, your daughter (and mine) may be different phenotypically than expected due to their genetic mutations potentially due to a unique version of another gene. I think it's virtually impossible to figure out which at this point, but I do keep this mind as I try to figure out why she is so phenotypically different.

      As always Ling, hope all is well! :-)

      Your friend in the surprisingly warm (today only) north!


    11. I am told females with autism often become more social when they enter puberty.... maybe an hormonal thing?

    12. Oh AJ, you had me already at the Marty Feldman nun.
      Don't tell your wife your post made me laugh out loud! (Admittedly a bit hysterical, like you laugh at things that actually scare you). :-D
      Yes, I definitely feel less alone now.

      AJ, have you checked if there are different isoforms of your gene? Maybe your daughter's mutation only affect some of them?


    13. Hi Ling!

      I think we're my wife and I are at the point where we can definitely laugh about that day - admittedly, I got there a lot earlier than my wife ;-)

      I think we all have those moments where our child behaves "differently" and maybe creates a commotion (although I swear I think mine has a real talent for it). The good news is that my daughter has a really good sense of humour, as do I, so these types of scenarios don't affect me much (and I do find them funny in retrospect, and sometimes at the time).

      But the nun ... seriously, to have my daughter panic during her first communion, in an otherwise quiet church, AND the nun is a dead ringer for Marty Feldman ... sometimes I think god also has a good sense of humour.

      As far as the different isoforms, absolutely, I checked that right after getting the genetic test and her gene has 3 isoforms, and the location of her mutation affects 2 of 3 isoforms, one of which is viewed as the key (larger) protein from the gene. And the mutation is in an important functional location of the larger protein.

      I do still think that there is a chance that the identified mutation may not be the primary driver of her condition. Most of the other kids with mutations in the gene have a specific phenotype that includes being overweight or obese, and my daughter is the opposite. She is skinny (not unusually or clinically skinny, but definitely skinny), and this is despite her consuming a normal amount of food (and usually some treats of her choice that include chips and / or chocolate ... lots and lots of chocolate).

      There are other unique facial features that the other kids with mutations in that gene have, that she doesn't have. The only noticeable feature, funny enough, is that her face looks exactly like mine at that age, so I can see that there are no divergent features relative to what I looked like.

      Which is why I'm still not 100% convinced that the identified gene is 100% of the story. She really sticks out like a sore thumb relative to the other kids, even in a study where they only looked at phenotypes for mutations in that gene. But then it could be that she has alleles that compensate for some of the issues from her mutation, but not all.

      I'm hoping to get more info from the various researchers working on her gene over the next few months.

      Hope all is well with you and your family Ling!


  6. Im based in the UK and not sure we would be able to get off label bumetanide. My son 9 ASD and ADHD needs help with his social communication and expressive language. Im hoping Bumetanide is the key to helping him with this

    1. I believe there is a trial at a university in the UK, maybe you can still enroll. Countries with OTC bumetanide are also just a short 2.5h flight away.

  7. This journal club article was interesting, as it mentions the link between social stress/avoidance and activation of microglia and ROS release (in mice).
    Additionally it mentions both NAC and clonazepam (the latter as an inhibitor of microglial activation)

    Microglia and Reactive Oxygen Species Are Required for Behavioral Susceptibility to Chronic Social Defeat Stress


  8. Dear Peter, my mother has to stop smoking due to COPD, so we have been loooking for stuff that will help. One quite promising thing is cold laser applied to certain spots, which is supposed to eliminate the cravings in those first 5-10 days when its the hardest. The proposed mechanism is a high of endorphins, which is what smokers are trying to achieve via smoking. This reminded me that a well respected endocrinologist researcher told me that in her opinion this is the first and foremost achievment of acupuncture. Circling back to the whole point of this - when I go with my mother, I will try and see if this would be something my child could do - the setting, duration, how it feels etc. Its worth a try if we can recreate the rollercoaster effect. Classic acupuncture is beyond my feisty little warrior.

    1. tpes, good luck. I think many things may be possible with low level laser therapy.

      There are many variables. The Cuban study used a pulsed laser of 635 nm with a power output of 15 mW. An LED (as opposed to a genuine laser) produced no effect. Participants received eight 5-min laser light applications to the base of the skull and temporal areas across a 4-week period: two applications per week, 3–4 days apart.

    2. This Indonesian article looks relevant, but it has a release embargo until October 2021:
      Laser Acupuncture Effects on Speech and Social Interaction in Patients with Autism Spectrum Disorder

      I can't figure out if the effect was relevant, it just says it was better than placebo.

  9. Hello Peter, Ling, Friends, and Community,

    I hope everyone had a great week (thank god it's Friday!).

    I was just looking back at some articles I had put aside to read and just happened upon something really interesting I wanted to share. I don't know if it's been shared before, but just in case it hasn't yet, definitely check this out:

    And the relevant paper:

    I hadn't seen this before, and in retrospect, it makes a lot of sense for the brain to have set up this type of negative feedback loop (in this case using Microglia) to prevent over-excitation.

    Basically the paper says that when Neurons are active, they release ATP (extracellular), which draws in Microglia who break it down (via CD39 to AMP and then via CD73 to Adenosine) and this frees up Adenosine, which then becomes the ligand to the receptor A1R. The result of its binding is that it keep the neuron from being over-activated (apparently similar to input from an inhibitory neuron).

    So when we posit that E/I imbalance is likely a key driver in many ASD cases, this research appears to show that at least one potential causative pathway could be this one where we don't get the appropriate activity from Microglia to tamp down an overactive neuron.

    There are many points theoretically where this can go wrong, such as an issue with CD39, CD73, A1R, etc. and so issues emerging from many different sources impacting microglial function could converge on this common pathway. I haven't looked into it yet as I wanted to share as soon as I found this, but I do wonder what the phenotype looks like for individuals with loss of function mutations in the relevant genes along this pathway. It would be interesting if there is convergence of phenotypes (assuming a LOF mutation in the relevant genes isn't fatal, as death significantly hampers phenotypic comparisons)

    If this hadn't been shared before, I thought this would be a good one to add to our knowledge base.

    Hope you find this of value!

    Your friend in the cooling north (who wishes he was in Maui!)


    1. I just stumbled on this article from 2010, which mentions that link between metabolism and excitability via A1R and K(ATP) channels in your article AJ.

      "applying the ketogenic diet in vivo to transgenic mouse models with spontaneous electrographic seizures revealed that intact A(1)Rs are necessary for the seizure-suppressing effects of the diet."

      It looks interesting. Have you written anything on this before Peter? My memory is blank.


  10. Hello Peter and everyone in the community, I wanted to ask something, weeks ago when my son's OCD and irrational fears got worse, he had finished a bottle of multivitamins containing Methylcobalamin, Methylfolate, and other vitamins, like D3, Inositol, DHA, Biotin, etc it contained no more than 100% DV of every vitamin. My other package was retained so he didn't continue to take them, several days after he started with the symptoms. Usually when he has a bad reaction to something it's immediate. If it is related to the vitamins, could it be good or bad? Has this happened to anyone?

    I still don't understand well what is Methylation, could it be related to his reaction by taking methyl vitamins?

    I'm also thinking it could be vitamin D3 as it's deficiency is related to OCD.

    I am now trialing low dose Lithium Orotate and it has helped him. He would ask me every hour to print him skeletons and colored them orange then he asked me to cut them and he would cut their legs and arms and glue them again, now it's only one skeleton per day. Thank you AJ for sharing!

  11. So is his OCD from the vitamins, or do you suspect it is because he is NOT taking the vitamins now? If it's from the vitamins, accelerating methylation with lots of b vitamins and cofactors can increase hyperactivity and perhaps OCD, though it's very hard to say what ingredient is the cause. B12 made my son exuberant and happy, the opposite of OCD. Inositol is given to help treat OCD. Usually kids on the spectrum need the folate and b12, so if he's experiencing OCD from NOT being on the vitamins, get him back on them as soon as you can. D3 might be a part of it, if SAD is an issue. It's that time of year.
    For me personally, I cannot stand a complex B vitamin supplement as I simply don't need them all. It makes me feel very unsettled and makes my mind race. However, I cannot function without extra b12 and folate everyday, and my son is the same. Getting genetic testing done could pinpoint just what is needed. I don't usually recommend the saliva based 23andme testing, but we did it a long time ago simply because a blood test would have been impossible. It came back with valuable info about methylation SNP's (small genetic flaws) that can be easily supplemented for and corrected.

    Also, seasonal allergies can bring out OCD tendencies. Just switching to a more powerful antihistamine, or upping the dose, can help. Eating plenty of protein, amino acids will help promote calmness too, especially meats (uncured, without MSG), beans, and cheese, if not allergic to dairy.

    Good luck :)

  12. Hello MKate, thank you for your reply, yes I suspect his reaction may be related to not taking the vitamins anymore, I have also suspected of allergies affecting his response to Bumetanide, and when things got really bad I thought it could be PANS, he became extra sensitive to sound and stopped playing outside because of fears, he cried until asleep when it rained, and was afraid of the slide, he started with bruxism also. He was a bit more hyperactive but his OCD didn't increment during the time he took the vitamins, only after. I had started another trial with Atorvastatin and I had to stop, I think it wasn't Atorvastatin because he had already tried it and also symptoms didn't go away when I stopped giving it to him, I started with Ketotifen but every day seemed more difficult because of his symptoms, and I didn't give it a chance to have an effect, I had already trialled with Pentoxifylline, and it seemed safe to give it to him again and also cetrizine as his allergies became more visible so after days his irrational fears stopped, but he was better at the time when he was taking the vitamins, even if he was more hyperactive, so some of the symptoms that got worse remained. I have been thinking about incrementing his Bumetanide dose

    Actually yes it's this time of the year when he gets sick often, thank you for the advice, I didn't know about SAD.

    I live in Mexico and actually I can't do as many things as wish, like genetic testing. The majority of the doctors here just prescribe Risperdal, recently I heard about one doctor prescribing Piracetam, but no doctor searches for the real issue, at least not the doctors I can take him to, there are many memes about how public medical services treat you here in Mexico, they're funny but sad really, you have to be dying to really get the attention you need, so now with Covid things are even worse. When I found this Blog I think another door opened. I am searching for a Doctor to attend my son and that is familiar with the therapies he is already on, but I think it will take time.


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