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Regressive Autism


This blog is mainly about classic early-onset autism and the biology underlying it.

There are many other disorders that also result in autistic behaviours, some of which are much better understood than classic autism.  Today’s post is about Mitochondrial Disease which appears to be the precursor to most cases of regressive autism, according to Dr Richard Kelley, at Johns Hopkins and the Kennedy Krieger Institute.

In well-resourced centers for autism, by which I mean large teaching hospitals in the US, cases of autism are often fully investigated.  First they rule out mitochondrial disease and common known single gene causes like Fragile X.  Next comes the chromosome microarray. The microarray (often referred to as CMA) may identify a genetic cause in 15-20% of individuals with an ASD. 

In the rest of the world no such testing takes place, unless you are very lucky.

If the supplement Carnitine makes you feel better, read on, because you quite likely have some mitochondrial dysfunction and have Asperger’s secondary to Mitochondrial Disease.

If you are interested in regressive autism and particularly if you live outside the US, this post could be very relevant.

In short, medical testing can establish whether mitochondrial disease is present.  If it is present, it may be the underlying cause of the regressive autism, or perhaps just an aggravating factor.  If steps are taken quickly, further damage can be limited and the final outcome much improved.

Some of the therapies are the same as for classic autism, like anti-oxidants but some are the opposite.

Certain common drugs should be avoided like types of painkiller (Tylenol/ acetaminophen/paracetamol and aspirin), statins, steroids, valproic acid, risperidone (Risperdal), haloperidol, and some SSRIs; all are inhibitors of complex I / toxic to mitochondria.

There is at least one emerging drug therapy to treat the mitochondria, as opposed to just limit further damage.

The following extensive extracts are all from a paper by Dr Richard Kelley, at the Kennedy Krieger Institute and the neighboring Johns Hopkins Hospital.  I suggest reading the full original paper.  It is the most useful paper related to autism that I have come across, and that is thousands of papers.


Autism secondary to Mitochondrial Disease (AMD)



Most children with autism secondary to mitochondrial disease (“AMD”) experience a single episode of injury, while a few suffer two or more periods of regression during a characteristic window of vulnerability between 12 and 30 months. The subsequent natural history of AMD is typical for regressive autism, with most children showing partial recovery between 3 and 10 years. The principal clinical differences between AMD and non-regressive autism are, variably, a mild myopathy, abnormal fatigue, and, occasionally, minor motor seizures in the years following the first episode of injury. Others with biochemically defined AMD experience a period of only developmental stagnation lasting several months or more between ages 12 and 30 months and show overall better recovery than those who experience a severe autistic regression during this period of neurological fragility. More noteworthy, but uncommonly identified, are sibs of AMD individuals who have all the biochemical features of AMD with no or only minimal developmental or behavioral abnormalities, such as ADHD or obsessive-compulsive disorder.

While permanent developmental losses in AMD can be substantial, especially in the few individuals who suffer more than one episode of regression, recovery can be almost complete in some children when treatment is started early after the first episode of regression, and a partial response to metabolic therapy remains possible indefinitely. Treatment of AMD includes augmentation of residual complex I activity with carnitine, thiamine, nicotinamide, and antothenate, and protection against free radical injury with several antioxidants, including vitamin C, vitamin E, alpha-lipoic acid, and coenzyme Q10 (CoQ10).

Although a deficiency of mitochondrial complex I may be the most common identifiable cause of regressive autism, the relatively mild biochemical abnormalities often are missed by “routine” metabolic testing. In some cases, all test results are in the normal range for the laboratory, but abnormal ratios of metabolites offer clues to the diagnosis.

The identification of patients with AMD has now become routine Kennedy Krieger Institute, in part because of its specialization in both ASD and metabolic diseases and in part because of the availability of onsite biochemical testing.

Natural History of Autism with Mitochondrial Disease. The natural history of AMD and the events surrounding the period of regression are as important as the biochemical abnormalities in establishing the diagnosis. Before regression, all affected children have had normal or even advanced language and cognitive development and no neurological abnormalities apart from mildly delayed gross motor milestones and hypotonia in a few. Regression often can be dated to a specific event, most often a simple childhood illness, such as otitis media, streptococcal pharyngitis, or viral syndrome, or, rarely, an immunization, most often the MMR vaccine or the former DPT. The common feature of all identified precipitants is inflammation. Regression occurs either acutely during the illness or within 14 days of immunization with the MMR attenuated virus vaccine. Regression is otherwise typical for autism and includes acute or subacute loss of language, onset of perseverative behaviors, and loss of eye contact and other social skills. Although neurological regression in many mitochondrial diseases and other metabolic disorders often occurs because of illness-associated fasting, most children with AMD continue to eat normally during the crisis. Moreover, regression during an illness can occur whether or not there is fever. The nature of the regression and its timing suggest that mitochondrial failure is caused by immune-mediated destabilization of mitochondria as part of a TNF-alpha/caspase-mediated apoptosis cascade [5]. Because “steady state” loading of complex I in brain is close to 50% [6,7], if a child had a 50% reduction in complex I activity due to  aplo insufficiency for a complex I null mutation, just a 5 or 10% further reduction in mitochondrial activity could cause neurons to cross the threshold for energy failure and cell death. 

The well-defined role of nutritional factors in modulating the inflammatory response and the shift from animal fats to vegetable-derived fats in western diets are important factors to consider in the cause and treatment of AMD. The increase in the consumption of pro-inflammatory omega-6 fatty acids in infancy and early childhood over the last generation has been particularly striking. The established role of inflammation in causing mitochondrial destabilization [8,9] could explain an increasing incidence of regressive autism in individuals who have otherwise asymptomatic variants of complex I deficiency, which may have specific adaptive function in host defense and cognitive development [10]. In this respect, AMD, which in our experience is the cause of most regressive autism, could be another inflammatory disorder among several that have seen a markedly increased incidence over the last 20 to 30 years: asthma, inflammatory bowel disease, atopic dermatitis, eosinophilic gastroenteritis, and type I diabetes [11]. The recognition of inflammation as an apparently common cause of regression in AMD recommends the use of anti-inflammatory agents, including ibuprofen and leukotriene receptor inhibitors (i.e. montelukast, zafirlukast), to prevent further injury in children with AMD. For example, the recently reported increased risk for post-MMR autistic regression in children given pro-oxidant acetaminophen [12] could also be interpreted as an increased risk for developmental regression in those who were not given ibuprofen. Moreover, the effect of the gradual elimination of aspirin use in children between the 1980s and 1990s following the Reye syndrome epidemic 6 may have contributed to the rise in the incidence of autism, although, epidemiologically, aspirin elimination alone is not likely to be a major factor in the rising incidence of regressive autism.
  
Although most patients with AMD have a discrete episode of acute or subacute language loss and social regression, some will manifest only relative stagnation of development for a period of several months to a year or more. At least 90% of such events––developmental regression or stagnation––occur in a window of vulnerability between 12 and 30 months.

  
The goals for treatment of AMD due to complex I deficiency are:

1)    Augment residual complex I activity

2)    Enhance natural systems for protection of mitochondria from reactive oxygen species

3) Avoid conditions known to impair mitochondrial function or increase energy demands, such as prolonged fasting, inflammation, and the use of drugs that inhibit complex I.


Combining the first and second parts of the treatment plan, the following is a typical prescription for treating AMD:

L-Carnitine 50 mg/kg/d                Alpha Lipoic acid 10 mg/kg/d
Coenzyme Q10 10 mg/kg/d       Pantothenate 10 mg/kg/d
Vitamin C 30 mg/kg/d                  Nicotinamide 7.5 mg/kg/d (optional)
Vitamin E 25 IU/kg/d                    Thiamine 15 mg/kg/d (optional)



Immediate behavioral improvement with carnitine treatment in a child with regressive autism makes complex I deficiency the most likely cause

Another important clinical observation is that many children with mitochondrial diseases are more symptomatic (irritability, weakness, abnormal lethargy) in the morning until they have had breakfast, although this phenomenon is not as common in AMD as it is in other mitochondrial diseases.

When early morning signs of disease are observed or suspected, giving uncooked cornstarch (1 g/kg; 1 tbsp = 10g) at bedtime effectively shortens the overnight fasting period. Uncooked cornstarch, usually given in cold water, juice (other than orange juice), yogurt, or pudding, provides a slowly digested source of carbohydrate that, in effect, shortens overnight fasting by 4 to 5 hours. 

the MMR vaccine has been temporally associated, if rarely, with regression in AMD and other mitochondrial diseases when given in the second year. Doubtless some of these regressions are coincidental, since the usual age for giving the MMR falls within the typical window of vulnerability for AMD regression. In some children, however, MMR-suspected regression has coincided with the peak inflammatory response on days 8 to 10 post-immunization, as measured by IL-10 levels [28]. Unfortunately, the falling rates of immunization with MMR in the United States and other countries all but guarantees that major outbreaks of measles, mumps, and rubella will occur in the near future


Nutritional Factors Diet is another variable to consider in the treatment of AMD. Vegetable oils that are “pro-inflammatory” due to low levels of omega-3 (n-3) fatty acids and increased amounts of linoleic acid and other omega-6 (n-6) fatty acids today predominate in infant formulas and most prepared foods, largely because 13 of nutritional recommendations to avoid animal fats containing saturated fatty acids and cholesterol. The serious consequences of this trend are now being felt. A study in 2000 [29] showed that two- to four-month old breast-fed infants had more than twice the level of docosahexaenoic acid (C22:6n-3) and higher levels of most other n-3 fatty acids compared to formula-fed infants, although immunological consequences of the difference could not be demonstrated using limited immunological assays in that particular study. While the average child may suffer no obvious ill effects from diets deficient in n-3 fatty acids, the possible proinflammatory effect of these diets could be a contributing factor to infection-induced regressive autism in a child who has a metastable mitochondrial disorder. Moreover, in view of a recent study that associated decreased synthesis of cholesterol with rare cases of non-regressive autism [30], the early termination of breast-feeding and the major shift in infant diets toward low-cholesterol vegetable fats could be contributing factors to the apparent rise in the incidence of both regressive and non-regressive autism. Indeed, studies over the last two decades have shown that absence or early termination of breast-feeding is associated with higher rates of autism [31]. The simplest way to assure a adequate amount of C22:6n-3 and related fatty acids for children on typical vegetable-oil enriched diets is to provide an oil supplement, such as flaxseed oil, which is enriched in the precursors for C20 and C22 n-3 fatty acids, or salmon oils, which contain substantial amounts of DHA and EPA and a relatively low mercury content compared to many other fish species. C. Medications Certain behavior medications used in the treatment of ASD are inhibitors of complex I and, therefore, warrant consideration in treating children with AMD. Although these medications appear to have little effect on overall energy metabolism in individuals with normal mitochondria, clinically significant compromise of mitochondrial function can occur when complex I is impaired and relatively high doses of the more inhibitory drugs are prescribed. The complex I-inhibiting drugs most likely to be used in the treatment of ASD include both typical and atypical neuroleptics, such as risperidone (Risperdal), haloperidol, and some SSRIs. Although these medications are used most often in older children who are beyond the vulnerable period for autistic regression, this theoretical risk should be considered when prescribing older generation neuroleptics, such as haloperidol and related drugs, with a higher risk for development of tardive dyskinesias.

These older neuroleptics have been shown to inhibit complex I activity in direct proportion to their propensity to cause tardive dyskinesia [32]. However, there is no evidence that the newer “atypical” neuroleptics, such as risperidone and quetiapine, which have a low risk for extrapyramidal damage, are contraindicated in children with AMD and other mitochondrial diseases. Indeed one of the commonly used atypical neuroleptics, risperidone, has been shown to possibly against mitochondrial injury via modulation of damaging stress induced calcium influxes into mitochondria [33].



Novel Mitochondrial Drugs

Edison Pharmaceuticals is developing treatments for mitochondrial disease.

EPI - 743
  
EPI-743 is a drug candidate in clinical development primarily focused on inherited mitochondrial diseases. EPI-743 is administered orally, passes into the brain, and works by regulating key enzymes involved in the synthesis and regulation of energy metabolism.
Through expanded access protocols and prospective clinical trials, EPI-743 has been dosed for more than a cumulative 130,000 patient dosing days (as of November, 2013), and has recorded a favorable human safety profile. Subjects with over 15 discrete diseases have been treated. 



Genetic Dysfunctions

The prevalence of mitochondrial disorders (excluding autism) is estimated to be about 1:8500


and yet it is estimated that 1 in 200 people have a defective gene linked to a mitochondrial disorder. 


This implies a multiple hit mechanism, like we saw with cancer in an earlier post.  It also shows the potential to be misled by genetic information.  Just because the defect is there does not mean it will actually cause anything to happen, further rare events may also be needed to trigger it.

Alternatively, maybe there are far more people with a mitochondrial disease than the above studies suggest.  They are not including people with regressive autism, for one.  Something like 1 in 200 people have regressive autism.

  
What happened to Dr Richard Kelley?

If you have read the full paper by Dr Kelley you are probably wondering what else he has to say about autism.  He is an extremely rare mainstream clinician who actually does know about the subject.

You might also be wondering how come such a doctor can write about vaccination triggering mitochondrial disease and then autism, albeit in rare cases.

Perhaps this is why he does not write further about autism?

Dr.Kelley's research has focused on the elucidation of the biochemical basis of genetic disorders. Through the application of various techniques of biochemical analysis but especially mass spectrometry, Dr. Kelley has discovered the biochemical cause, and thereby the genetic etiology, of more than a dozen different diseases.

People do write about autism and mitochondrial disease, but some of these researchers are from the fringe and are not taken very seriously by the mainstream.






150 comments:

  1. excellent article Peter - as always very interesting

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  2. I wish I had known this stuff 20 years ago.

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  3. Hi Peter,
    Have you heard about Mitospectra developed by Mitomedical, this is the cocktail for regressive autism you mention above. The product seems to be based on Dr.Richard Kellys research.
    From what I have read, it seems like using ALA, carnitine and others mentioned in the cocktail are the only medicine to help with regressive autism, so was wondering why then go through all the chromosal tests like microarray etc.. instead of just using this medicine - just like the trial and error for symptoms of classic autism.
    Thanks
    BK, I have ordered mitospectra, will post once i see how it works
    Thanks

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    1. Dr Kelley seems to believe that regressive autism is always caused by mitochondrial disease. Nothing is black and white in autism, usually it is a shade of grey.

      You can establish mitochondrial disease via metabolic testing at a good hospital lab, it is not so expensive. You only do the genetic testing if you want to know why there is mitochondrial disease.

      I have heard about Mitospectra and the big advantage is its simplicity of use. Because it is a powerful mixture of antioxidants it would improve the symptoms of almost all people with any type of autism. The difference is that in someone with mitochondrial disease it would likely take a few weeks or even months to show effect, whereas in classic autism antioxidants will be effective almost immediately. So if Mitospectra has an immediate effect on your child, it might not be mitochondrial disease.

      Even the term regressive autism is highly subjective. I think all autism is slightly regressive.

      Dr Kelley's mito-cocktail aims to halt the deterioration caused by mitochondrial disease, it does not undo the damage that has been caused; that is case of hoping for self-repair, which seems to vary wildly.

      It is also clear that there can be mitochondrial dysfunction which is a lesser problem than mitochondrial disease. This is claimed to be quite common. If you respond well and quickly to carnitine, it is suggested that mitochondrial dysfunction is likely.

      Dr Richard Frye (University of Arkansas) is another researcher active in the area of autism and mitochondria. He has his owns ideas.

      Both Kelley and Frye see patients. If you live in the US you can always try to see one or both.

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    2. Does anyone have a contact email for Dr. Richard Frye?

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  4. Hi Peter! I am a mother of a 22 year old aspergers from Greece. Things got really worse for my son for the last 3 years, with self injurous behaviours, social withdrawal,gave up his studies at university and generally lots of suffering. He is completely stuck and there is a terminology for this it is called perseveration. he is doing the same repetitive behaviour over and over which finally leads to meltdowns. Do you have any ideas how I can help him?

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    1. I think that perseveration is the Asperger's word for stereotypy. The cure for stereotypy in greater than 50% of people with autism is the antioxidant NAC (N-acetyl cysteine); it is available cheaply in Europe from the big American supplement companies on Amazon. You may find it easier to buy online than in a pharmacy, they all ship within the EU. For his age I would suggest 600mg x 4. For example 1200mg at breakfast, then 600mg after lunch and 600mg in the evening. If it is going to be effective it will change things within 2 or 3 days. If it has no effect then stop. You could even use 600mg x 5.

      Stereotypy is usually caused by oxidative stress and NAC increases the bodies main antioxidant called GSH.

      It was shown to be effective in a clinical trial at Stanford, 3 or so years ago.

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    2. Hi Peter! Thanks for your immediate and so hopeful reply.

      I very much suspect myself that lots of his" burden" is due to oxidative stress. He has recently had an operation and his sleeping disorder got worse. No drugs could help him go to sleep apart from melatonin 3 mg Health Aid. Melatonin doesn't always get him to bed but somehow it gives him a much better mood. Melatonin is an antioxidant and we saw direct stress relief. Then I added spirullina 1-2 tablets a day and saw little more benefit. As I was trying to order brocolli sprouts from Australia and knew it will take time I added Solgar Omnium 2 tablets which has sulforaphane without knowing if it's active. Then again I noticed a great relief after almost 20 minutes. It lasts for about 7 hours. Stereotypy hasn't gone but it seems a little bit better. Now I have my brocolli sprouts delivered, and I should order Nac. I prefer Solgar because I trust this brand. I am a little confused for my next steps. Could you advice me on my priorities?
      Thanks for your concern.
      Petroula

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    3. Hi Petroula, the important thing is to try one intervention at a time; that way you know which ones work, or not.

      The broccoli sprout powder (sulforaphane) will either have an effect within one hour of the first dose, or your son is not a responder. So you can try this one straight away.

      Then order NAC and use it for a few days to see the result.

      As I put in a recent post on melatonin, there are some trials in France looking at higher doses of melatonin. At double the sleep inducing dose, the antioxidant properties become greater. Melatonin has a specific effect on oxidative stress in mitochondria.

      So my suggestion is :-

      1. Try the broccoli powder and if no effect after 3 days just stop.

      2. Try NAC, maybe gradually build up to 4 x 600mg over a few days and hopefully see a good result.

      3. Later on, try a double dose of Melatonin and see the effect

      4. If the double dose of melatonin helps look at other things that help mitochondria, like carnitine and co enzyme Q10 (all Dr Kelley from Kennedy Krieger's ideas for regressive autism)


      Solgar Omnium has numerous useful ingredients including NAC itself. Tumeric is also helpful in oxidative stress. It has flavonoids plus B vitamins etc. In large amounts, Tumeric can be very effective, but it is poorly absorbed, which will be looked at in a new post shortly.

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    4. Great! As for the dose, shall I try half a teaspoon, he is quite big, young adult.

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    5. You can try a whole teaspoon (5ml) since he is big. If he responds you can always reduce the dose to see if it keeps its effect.

      These doses are all lower than the dose suggested on the packaging.

      I give 2.5ml at breakfast and then 1.25ml in the evening.

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    6. Hello Peter!
      You don't mess up with an asperger, I mean he was fine tuned with the interventions I've mentioned before, however I needed desperately to see if sulforaphane works as I wanted the real "himself" effect.
      First day in the morning half teaspoon sulforaphane, twenty minutes later "I'm fine", looked normal. It lasted 2,5 hours and then he started "I'm not OK.Literally or unknown feeling detected as a threat? He wanted more time alone to process. After more' I'm not OK' and as a last resort, though I should have kept one intrevention at a time, I gave him an omnium tablet. then balanced, no mood swings, stereotypy, melatonin at night, some agitation but no further escalation.
      I thought, whenever he had a fever he seemed normal, why doesn't sulforaphane work, he must be a responder.
      Next morning 5mg and ok for less than 4 hours. Then the "I'm not ok" thing. Cognition raised dramatically, solved really difficult maths for fun. He seemed arrogant, irritability,mood swings, wanted to be left alone from times to times,stereotypy decreased. He had an omnium and a spirulina just in case... but so far no escalation... He messed me up. What do you make out of it , is he a responder?

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    7. I think you just need to try various interventions and judge the effect. Since there are so many types of autism, different things help different people. So try the NAC by itself and later add the broccoli and see if the effect is different.

      In typical people the broccoli has no behavioural effect at all. In most people with ASD it improves mood, in most of the rest there is no effect, but in a small number it makes them "worse".

      Your son is a responder, but you are the one to judge if it is positive or negative.

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    8. Hello Peter! This is Petroula.
      Thank you very much for being exceptionally considerate to other people's challenges. Your dedication to autism research in order to help your son Monty, seems to go together with your motivation to share with affected families worldwide.
      The sulforaphane trial ends after day 3 with 7,5 mg. It brought some kind of "normality" and gave my son high cognition but it did not bring good mood.
      He seems a negative responder.
      It is not that I underestimate cognition, which is absolutely important, especially for people who are not equipped with specific brain functions, but if you are not in a good mood you can never be happy and vice versa.
      I start NAC the soonest possible. I raised melatonin dose to 6 mg with good results.
      Peter, my son was diagnosed with Asperger's at 19. My nephew from my younger sister was diagnosed at 10 a few weeks ago and also my younger sister at 40. Now I suspect everyone including myself. It looks as if it runs in the family.
      I'll let you know whenever I have results.

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  5. Hi Peter, i have been trying nac since nearly 3 days and the behaviour improvement is very noticeable, more than any else we have tryed. The sense of wellbeing is so noticeable for my son that he calls it the magic pill. But, like a fairy tale, i call it cinderella effect because it lasts 3 hours more or less. I also must tell you that stereotypies are still there, specially when are sensory triggered. Do I have to increase the dose? Is nac safe in the long run? thanks, Valentina

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    1. NAC has a short half-life. There is a product called NAC SUSTAIN, which is delayed release. I also find that after 3 to 4 hours the effect is lost. It does seem to be safe, we have used it every day for two and a half years. The effect does vary from person to person. In some people it is the key to preventing self injury. I think you need to adjust the size and frequency of the dose to maximize the effect. I use both the regular NAC and the delayed release pills.

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    2. he is 9 , how would you adjust the dose? he is taking 600 mg 3 times daily, regards and thanks

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    3. You can use up to 3000 mg, but if you can find NAC Sustain or split the 600mg in two you can make a more stable level throughout the day. There is also Fluimucil available in many countries, which is NAC as an effervescent tablet, which can be split into two. For our son the morning and early afternoon is the critical period, giving NAC after 6pm has no purpose. So I start the day with 900mg and then give 300mg, or 600mg NAC Sustain about 3 hours later at school. Then at 2pm he has 600mg and again at 6pm.

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  6. Hello Peter, this is Petroula,

    First day with NAC trial, in the morning a tablet of 600 mg and felt OK for about 2,5 hours. Then there was something wrong - anyway he didn't have enough sleep last night so this might also cause him an annoyance. Then another nac tablet and still there was something wrong, as if we had mixed results.
    After I had had a look at your post about nac failure to produce GSH and that it sometimes needs to be combined with B vitamins I gave him an omnium which has B6 25mg, B12 50 mg and B9 200 mg and things got a lot better. He had energy, good mood, seemed normal and focused.
    Now do you think that 2500-3000 mg of nac would be too much for him? Is it ok if I combine it with the omnium?- we can't risk a meltdown. If you have any comments on that please let me know. Thank you

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    1. Hello Petroula, after about 3 hours NAC has lost its effect. NAC does need vitamin B12, but most people have plenty. About 15% of people with autism have a problem with B12 and respond well to large doses of it.

      Maybe your son does not respond to NAC? Some people only respond to a larger amount. The positive response is normally very obvious.

      A small number of people respond badly to all antioxidants,as if they have no oxidative stress. I am sure you can combine it with omnium, but if it does not make him feel better, NAC is not a good idea.

      You can also increase GSH using tumeric/curcumin. I have never done this, but there are numerous supplements claiming to increase bioavailability. There is a special one from Solgar, I think. If NAC does not help, this might be worth a try.

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    2. Hello Peter, it's Petroula.

      Day 2 with NAC trial and things changed dramatically in terms of the "himself" effect I was looking for.

      My initial condition is to try NAC for 3 days. Having "failed" on day 1 and not knowing what to do with NAC, I did it the other way round. I gave him first OMNIUM and after an hour NAC. He was fine.

      Then he started a conversation with my husband about international politics. My husband had shallow arguments but also seemed very confident about his views. My son had a burst out- not a meltdown- and told him that he could either conclude that he was being nonsense or he was trying to manipulate him. He said that being autistic doesn't mean he can't understand things and expects others to give him preoccupied knowledge. He needs to find the truth for himself and also needs respect because he is a grown-up. After I had explained that people sometimes lack the skills to see their contradiction in their reasoning because of several other factors in between, he calmed down nece and easy and went on talking about interesting things.

      Yesterday NAC gave him back some of his lost executive functions. Proper and positive mood according to the context, self control, clarity of mind, awareness,self expression, communication skills and so on.

      Total quantity: NAC 1800 mg every almost 3 hours
      Omnium 2 tbs every almost 7 hours
      Melatonin 6 mg late at night

      The most important thing is to see if NAC has a "permanent" effect and also experiment with the dosage- lasting time and a balanced combination among supplements in 24 h basis.

      Any comments would be more than welcome. Let you know my results. Thank you

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  7. Hi Roger

    Whole Exome Sequencing (WES) is not the wonder diagnostic tool many imagine. You can have a proven metabolic disorder without there being a dysfunction in your exome. More confusingly, you can have dysfunctions found on your exome that are not (currently) being expressed in your body and so may be seen as irrelevant.

    In the case of cerebral folate deficiency:


    Brief Report: Autistic Symptoms, Developmental Regression, Mental Retardation, Epilepsy, and Dyskinesias in CNS Folate Deficiency

    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131536/


    "No mutations were found in the exons and intron/exon boundaries of genes encoding proteins involved in folate transport (RFC, FRα, FRβ, PCFT), methylenetetrahydrofolate reductase (MTHFR), dihydrofolate reductase (DHFR), and formiminotransferase cyclodeaminase (FTCD)."

    So in those test subjects there was folate deficiency, but the genes were just fine.

    Remember that the exome is just 5% of the genome and in the remaining 95%, where enhancers and silencers are found, there might be something relevant. Also, epigenetic changes will not show up in WES.

    The same is true with mitochondrial disease. Metabolic testing can indicate mitochondrial disease, the patient responds to treatment, but genetic testing finds nothing relevant.

    The main thing is that you have found effective therapies.

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  8. Good evening Peter,
    I am about to order uridine supplement and I need some information.
    Do you know if uridine causes any problems to bones during osteogenesis?
    This might sound irrelevant to autism, but my son is recovering from an Ilizarov limp operation...let's call it an accident... due to severe persevaration and destructive meltdowns.
    We have been lucky with Nac and melatonin because there is evidence that both help during osteogenesis.
    Also according to his blood checking, which was two years ago, he was found 8 in uric acid with maximum 7, but my mum's lab gives maximum 6. What is your knowledge of the maximum level?
    I found Jarrow formulas uridine 250 mg / 60 capsules and thought I should buy it. What is your opinion on the dose? Should I expect a direct response?
    Thanks a lot
    Petroula

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    1. Hi Peter, Petroula,

      Peter, many thanks for the links, big relief to see that something can be done about it. It is sad though, that Ted Page the lead author, has not published much since the early noughts.

      I did find this page: http://www.greatplainslaboratory.com/home/eng/book/ch9.asp

      Wondering if it might be worth testing for the succinylpurines. Also, the urine uric acid. Have you tested for this?

      Peter, do you have access to the full paper? It would be good to see the age/weight of the individual and the basis for the dose increase.

      Again, many thanks.

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    2. Hi RG, I do not have the full paper. I just wrote a post on this subject. You would have to test both blood and urine for uric acid. Both are elevated in the 20% autism subtype with hyperuricemia.

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    3. RG, note my recent post that:

      "A ketogenic diet impairs the ability of the kidney to excrete uric acid, due to competition for transport between uric acid and ketones"

      So this may be relevant in your case.

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  9. Petroula, a small trial in people with bipolar used 500mg twice a day. It was well tolerated. People using it as a nootropic use a similar dose. I would expect to see an effect quite soon. I do not know about the osteogenesis. I think the case study I gave a link for previously used a much higher dose. Trying 500mg twice a day would seem to be the safer option.

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    1. Hi Peter and Hi to you RG,
      Peter, uridine is not available in Greece and just because there are capital controls here I can't order uridine from Amazon. Amazon is not marked as a pharmacy. I tried Double Wood supplement company, they have a prime product of 300mg uridine, and still waiting for my order to proceed.
      Although I am in an emergency, I shall have to wait.
      Petroula

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  10. Hi Peter, I think vitamin E may play an important role in my son's regressive autism.
    About a month ago you advised me on trialling vitamin E as a potent antioxidant and ordered some. The day before yesterday, in the evening, I used 200IU and I had no results during the first 4-5 hours. Then things changed for the better particularly in promptness and skills. His general function seemed excellent, very close to the "himself effect" I am looking for.
    I hope this is not going to loop. If it's vitamin E deficiency in relation with his low LDL, I have to check damage immediately. There may be problems with his GI system, liver, pancreas, retina and other neurological damage.
    Could you possibly advise me on priorities?

    ReplyDelete
    Replies
    1. Petra, I would direct the medical questions to your doctor. I doubt he is deficient in vitamin E, you are just seeing the effect of extra vitamin E.

      If you have oxidative stress, all antioxidants should help, but some more than others. Also, oxidative stress is another "umbrella" term, so it depends just where is the oxidative stress and what is the source. It remains a guessing game. If mitochondria is the target, then that special vitamin E is supposed to help, but so is melatonin. Melatonin is cheap and is very potent at reducing oxidative stress affecting mitochondria. Since it will make you sleep, it should be taken just before bedtime. I would compare the effect of the vitamin E to 3mg of melatonin.

      The other thing is to wait and see the effect over time. I found biotin helpful but after too long at a high dose the effect turned negative.

      Delete
    2. Can regressive autism occur much later? Though I've always had some aspie aspects and chronic health problems (the later putting me on disability at age 32) no one knew why I was sick...everything looked normal, even after I was treated for hemochromatosis. However in my sixties my electrolytes suddenly tanked and after repeated ER visits I discovered multiple extensive food intolerances, genetic defects and learning disabilities associated with autism. This was followed by rapid neurological deterioration affecting speech, cognition, balance, etc. I called it "reverse autism" because it was so similar to autism. So far this has been a one woman show due to the lack of helpful doctors. However I have the option of seeing a neurologist who favors autistic patients. Unfortunately I've spent decades reversing labs through alternative means, and I've gotten rather good at it. My only option now is to go with a very good idea of what is happening and present a good case as most can't believe I could sufficiently reverse such things. Any ideas or suggestions, particularly as to tests that would remain untouched, is appreciated. I do believe that liver damage (from the iron along with sulfation affecting the gall bladder) is a major factor along with significant gut damage, methylation and other genetic defects. Thanks so much for starting this superior site! Any assistance is much appreciated. If not, (I am such an oddball), then that's okay too as I feel certain I will eventually figure things out. Thanks for reading! Good luck to you all!

      Delete
    3. Hi Linda, thanks for your question. Regressive autism is normally used to describe people who achieve their early childhood development milestones, but then lose key skills like speech or toileting. This regression usually occurs at the age of 2 or 3, but it can be 4 or 5 and extremely rarely slightly older.

      Your question is more about someone who has signs of autism/Asperger’s and then develops a comorbidity like an allergy, irritable bowel syndrome, arthritis or even leukemia (yes sadly cancer is a cormorbidity), which makes their autism much worse.

      In Kanner’s original paper on autism in the 1943 his subject #1 went on later to develop juvenile arthritis. This is an auto-immune / inflammatory condition, this made his autism much more severe. When his arthritis was treated his autism improved.

      So my suggestion is to treat any diagnosed medical conditions that you have and this should improve your symptoms of Asperger’s.

      If your electrolytes are disturbed, try and maintain potassium in the high normal range. Do not supplement calcium, since in autism there is a big problem with elevated calcium inside the brain, as shown in numerous scientific papers. Drink milk, but avoid calcium tablets, which cause a sudden spike in calcium levels.

      Autism is just an umbrella term for hundreds of possible dysfunctions, so it is very hard for doctors to treat. Start with your comorbidities.

      Delete
  11. Hi Peter,

    I came across your blog looking for information on Bumentanide/Autism, but this article in particular has interested me. I’m a bit confused whether to class my daughters ASD as regressive or not. She was definitely a lot more engaged and attentive in her first year but when I compare her to her younger Non ASD brother I realise he does a lot of things that she never did, like ask for things and point.

    Where would you draw the line?

    ReplyDelete
    Replies
    1. Kei, good question. I think classic autism has a progression during which the child appears to become more autistic. I think Dr Kelley is talking about regression from normal to autistic, so a much more profound regression.

      There is no harm in trying bumetanide even if your child has a mitochondrial dysfunction. All that will happen is after a month your trial will show no effect.

      The sooner you start bumetanide, assuming she is a responder, the greater the long term effect is likely to be. The altered E/I imbalance causes the brain to deviate from how it should develop at what are called Critical Periods.

      Delete
  12. Hi Again Peter,

    Thanks for your reply. We are currently trialling Zonegran at the moment (I’ve gone into a little more detail on your EEG page). But once we have a conclusion on that then I will be keen to go forward with something else.

    Do you know of any doctors in mainland Europe prescribing bumentatide? I’m currently in Spain.

    ReplyDelete
    Replies
    1. Kei, in Spain many prescription drugs are dispensed at the pharmacy without a prescription. In Spain if you ask nicely for Fordiuran (bumetanida) they will sell it to you. Several readers of this blog are doing this and then taking their 12 month supply with them.

      Delete
  13. I am sitting here dumbfounded at what I have read so far on your blog, especially about regressive autism. I am the mother of a "recovered" child, diagnosed with autism at age 4 (onset somewhat earlier than that; this was all very new back then) who is now in his early 20s. I read hundreds of books, and articles, and tried every biomed intervention out there during the first 15 years of my son's life. We were 100% gf/cf in our whole family for 10 years. While I made huge progress with the things I did, how I wish I had had this information 20 years ago!

    I have spent the day reading your site and other articles on carnitine deficiency. It is the best description of my son I have ever seen--but not only my son, but my entire family.

    My son has a younger sister who, while not in the least autistic, has many of the "sibling" issues you listed above--along with debilitating anxiety when she was young, manageable now. My brother has two kids, both on the spectrum. My own sister, now in her 50s, is probably a textbook case of carnitine deficiency and might have been diagnosed as ASD when she was young. And my mother as well.

    I could write a very, very long post here, but suffice it to say that I am incredibly excited, as the research you posted here has tied together many pieces of info I've gathered over the years. We took Motrin and a small dose of antihistamine daily for years. You wouldn't believe the backflips I've done to take every possible allergen out of his diet and environment. My son tested allergic to 31 foods on his original ELISA test. He had encephalopathy as a child. I have known that antioxidants were a key for him, and use liposomal vitamin C routinely, as well as E. Chelation with DMSA was a huge gain for him--but I also learned that a couple of days of chelation with DMSA will normalize glutathione levels. In short, your article above is written for my son, and probably my whole family--including me!!

    My son and I took our first dose of carnitine a few hours ago, and will add in the rest of your recommended supplements over the coming days and weeks. I had stepped away from biomedical interventions for the last few years as I was not able to get compliance now that my son is in college. This is doable--and after we get genetic testing done, my son and probably my two daughters will have a solid reason for staying on the program. Thank you, thank you for all of your research! I wish I had all of this information sooner, but am thrilled to have it now. Blessings!!

    ReplyDelete
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    1. I also want to ask a quick question. My son and daughters responded incredibly well to the kryptopyrroluria protocol, which is zinc, B6, magnesium, EPO and omega 3s. The zinc and B6 especially seemed to work wonders. How might this fit into the scenario of AMD? Thanks!

      Delete
    2. Janie, there is research showing that some people with autism benefit from the combination of magnesium and B6. Some people take this for decades, like Bernie Rimland's son.

      There are posts in this blog about zinc. In some types of autism zinc appears to be "in the wrong place" and there is a drug that can move it, but it is not entirely safe. So in some people a little extra zinc may very well address the problem.

      Omega 3 does seem to help some people with autism and many with ADHD, but for others does not have any effect.

      I think most people with features of autism have many different biological issues and so there is no single treatment for anyone. This is true of the better defines neurological conditions like Alzheimer's, Huntington's etc; therapies just target one feature of the disease. So your children will likely benefit from a personalized mix of therapies and this is the hard part, nobody's "protocol" will be perfect; you just have to see what works in your specific case.

      Delete
  14. Can You tell US how You could recover him?WhatsApp helped him more? el

    ReplyDelete
  15. Hi Peter, I want to thank you so much , after reading your article I gave my 9 years old "40 kg"...daughter a cap of 30 mg coq 10, and her aggressive defiant behaviour has decreased , to a noticeable degree, we have tried l carnitine but the tartaric form, ,acetyl cistien, omeg 3(gave high irratability recently after 5 years use), bumetanide, zinc , vit E , vit A, all that did not seem to improve her impulsiveness neither her focus, until I read your article about the deficiency of vit D among Egyption and since we are , we made an analysis and she was found to have 20 and me 16, we started taking vit D 3 moth ago and I noticed an improvement about her social interaction, even myself, felt like being more extrovert, and just yesterday we took co q 10 based also on your wonderful article and it was like magic, can not thank you enough,,,, and I need your advice shoul I keep the 30 mg daily for her for how long? And what else you suggest we do to improve math learning difficulty and memory and please accept my greatest respect and regards

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    Replies
    1. Amani, CoQ10 occurs naturally in your body and 30mg is a low dose, some people take 10 times higher doses. Many people with autism take CoQ10 long term. It makes sense to take supplements only when there is a benefit, so try it for a few weeks and then stop and see if the aggression returns.

      I would actually see if a higher dose of CoQ10 gives a further benefit. Improving memory and maths depends on the specific person, some people with mild autism/ADHD claim great results from high doses of EPA. EPA enters the brain but DHA does not, so not all fish oil based products are the same.

      Delete
  16. I have been looking in my country Egypt for a an omega 3 cap brand containing only EPA but unfortunately there is not , all the brands have DHA along with EPA , is there a way I can buy icap omega 3 contains only EPA , overseas or by shipment and I pay for it , will be more than thankful

    ReplyDelete
    Replies
    1. This company in the UK has various high EPA or all EPA products

      https://shop.igennus.com/Vegepa-Chewables-chewable-omega-3-fish-oil-for-children-60-capsules.html.

      they do have some research to support their claims, which is where I came across them. This below relates to ADHD:-

      https://igennus.com/nutrition-blog/co-therapy-potential-vegepa-adhd-study-shows/

      In reality it looks like some people benefit from EPA/DHA and some (probably most) do not. It is just a case of making a trial and seeing if your child is a responder.

      Delete
  17. Can't thank you enough Peter

    ReplyDelete
  18. Hi Roger, thanks for the update. I saw that Dr Frye had moved west.

    It looks like immune disorders do indeed play a key role in autism, but your example of a resulting faulty DNA repair does indeed look complicated.

    ReplyDelete
  19. Hi,

    First, one observation - from original article, I see last 2 are optional: Nicotinamide and Thiamine. Vitamins C and E are mandatory.

    I'll start with Carnitine tomorrow on my son and see how is doing. He's almost 4y and has autism. We are from Romania. He's on ABA and vitamins + GABA + GF/CF. I stopped all supplements just to see Carnitine effect. Stereotypes, mood swings, social issues, not interested in play. Able to speak short sentences, but only when is asked to [Q: what am I doing? A: daddy is eating]. Rarely words from himself. Likes to sing songs, with or without full meaning of words.

    He has a MMR regression, like his older syster [almost 8y now], but she is fine, was able to catch up. At the time of MMR shot, he didn't talk - it was like 1 y and 3 m. But he was sad about 1 month after the shot. He had also atopic dermatitis in first months.

    I don't suspect a regressive type, but I want to try Carnitine to pull it out of my mind.

    No genetic tests so far.

    My wife didn't want to test NAC yet :) She's afraid of its use in mucus etc

    I keep you posted.

    Thank you for your hard work! :)

    Adrian

    ReplyDelete
    Replies
    1. Adrian, you can use ALA (alpha lipoic acid) in place of NAC. It is widely used in your part of the world by old people with diabetes, to reduce neuropathy. NAC is indeed given to toddlers with a cold, I took that as a sign of its safety. There are trials in autism showing NAC is safe.

      Delete
    2. Hi Adrian,

      Hope all is well.

      Adrian, I noticed in your post that you had mentioned no genetic tests so far.

      I can tell you from personal experience and all that I have learned thus far, that I believe a good genetic test is one the best steps anyone can take with an ASD child, especially when they are very young so that you have a lot of time to pursue any findings.

      This was one of the first things we did, and finding a causative mutation has opened many important doors for us.

      After much research, I decided on the Xpanded Autism/ID panel from GeneDx. While there are other tests, including whole genome sequencing, what I like about this test is that it tests the child and both parents, to find de Novo mutations, and the gene list is ~2,500 genes. Some tests look at a handful genes and I really believe that the more genes tested the better.

      Here is the link to the site:

      https://www.genedx.com/test-catalog/available-tests/autismid-xpanded-panel/

      It's not cheap, but the value of a genetic diagnosis is, in my opinion, worth 100 times the cost of the test.

      Again, if I could give you one piece of advice, it would be to do genetic testing as soon as possible. The number of doors that open up with a genetic diagnosis are incredible, and you can then focus your efforts on the impact of that gene / mutation.

      I wish you and your family all the best!

      AJ

      Delete
    3. Hi AJ,

      Thank you for all your info and good thoughts.
      Your site is not visible from Europe IP, maybe that GDPR thing, but I was able to see it anonymously.
      GeneDx is a top Lab in US and testing for 2,592 genes is out of my financial range.
      I will do test however for some important genes here in Romania, I need to set an appointment with a local doctor which has experience in autism testing.

      Definitely it has a genetic component. Because our daughter which is now almost 8y old was suspected of having Asperger when she was like 4y, and even now she has some social problems.
      I analyzed the situation and she is like me mostly. I remember how I was at her age, I might have some Asperger touches myself.

      My son however is not that type, I started with Carnitine for about 4 days, low dose [250 mg in the morning so far] and I don't see any bad reactions yet.
      It might be a placebo effect, but somehow I noticed is a bit more present.
      One day he started to play with cubes, and seemed interested in them. He is not interested in playing with toys unless I point him to.
      Then he took a look quite long at Mickey Mouse cartoons and seemed to try to understand what's going on there.
      And he pulled the hair of his older sister, like knowing is a prank.
      Not sure yet, will see.
      I tried few amino acids so far and all [except GABA - pharma type] raised his irritability from first or second dose.
      He is so sensitive when it comes to amino acids.
      I tried in July some TMG for speech and he reacted so violent, that I stopped it after 1 day :)

      In about 1 week I will add CoQ10 [with bioperine for high absorption] and then ALA like in regressive protocol [also Peter suggests ALA].
      He might have mitochondrial disease, but I need to do a trial and error approach.
      In the near future maybe travel to Canada for testing [in Vancouver, like Peter mentioned in this blog], since Romania doesn't have visa required right now.
      Or even US, since we have a good relationship with US :)

      Few more aspects on little Andrew [the pacient :)] : he is an eater, he eats about everything and in large quantities, although he is skinny.
      His thyroid blood tests are good.
      And he always takes supplements from spoon without comment, even many of them taste nasty :)
      Lately he wakes up quite often like at 5 AM, talks to himself, sometimes singing to gather attention, and then fall asleep aroung 7 AM.
      Maybe he is hungry and doesn't tell, scream or do something crazy about it?
      I talked to my wife about giving him half of spoon of cornstarch before bed, so we can test if he wakes up in the night anymore. Will see.
      She told me she used to put in the cooked meal some cornstarch [so that composition is more dense] and she didn't remember of any sleep issues.
      It might be just a guess, but I need to test this.

      We did also a hair test on Doctors Data Inc and it didn't show any heavy metal burden.

      I will post more results of this trial and error process.

      Thank you again,
      Adrian

      Delete
    4. Hi Adrian,

      Hope all is well.

      As the dad of an ASD child myself, I'm always happy to provide some ideas that helped us.

      Yes, the GeneDx test is quite expensive. I did negotiate the price down by about one-third as we were paying privately (versus it being paid by our government, which declined to pay). Even then, it was a significant cost.

      Hopefully in your country, you do have some government funded testing (even if it's fewer genes).

      It's a good sign he is such a good eater :) Many ASD kids (like mine) have a limited set of things they like, and good luck adding something new. With us, our daughter will try new things (after making faces) but it's a challenge.

      With regards to trialing new supplements, I do suggest giving them a bit of time to see if they are working (assuming there are no negative effects) as it may take a couple of months to show positive signs.

      This is why I am such a proponent of the genetic testing. Without a diagnosis, it really becomes a trial and error effort (and even with a genetic diagnosis, especially for genes that aren't well understood).

      I hope you get some good results soon with one of the supplements, and that in the long run, you see great success.

      AJ

      Delete
    5. Adrian, does your son respond to the casein free diet? Because if he has something called folate receptor autoantibodies these will raise with milk consumption and make autism worse. You mentioned dermatitis, which also is part of the autoimmunity theme.

      Eating a lot without gaining weight is a common theme in my circles. It could be anything about the gut not being able to suck up all nutrients from the food, but could also be disturbed ghrelin levels or something else like low response to growth hormones. I think trying resistant starch or keto might give you hints to this disturbed metabolism.

      If he responds to GABA you should take a look at all the suggestions on this blog on that theme, it is probably the most central one.

      Wishing you luck on your search,

      /Ling

      Delete
  20. Hi Peter,

    After doing NAC, Cetrizine and levocitirizine, no effect. I read the original paper by Dr. Kelley, she says most regressive autism is caused after an infection during the vulnerability period of 12 - 30 months. The same happened with my son, he got a staph abscess and regressed a bit after 6 months he got another staph abscess and regressed further.

    I took him to a peadiatrician and he prescribed carnitine and a B complex, but it was really low dose only 20mg. I think I should give carnitine a try as per Dr. Kelley and introduce it on a 20percent dose and increase gradually.

    His paper seems to make sense with my sons regression.

    ReplyDelete
    Replies
    1. Adam, applying Dr Kelley's ideas would seem a good choice.

      Note that his therapy is designed to avoid further regressions, rather than repair the damage that has occurred. He says there is wide variation in how much self-repair occurs, but it is key to avoid further regression.

      Since the damage caused is either neuron death or loss of myelination, it would seem a good idea to promote remyelination. Dr Kelley does not do this, but it would look like a smart idea to me. You could try Clemastine (which should be cheap) or Ibudilast (which is expensive and comes from Japan). Both may help remyelination.

      The chance of a mitochondrial "overload" should fall as the brain's power requirement falls, as the brain stops growing. The brain's peak power requirement is 30+% of the body's total in a young toddler.

      Delete
    2. Sounds clever peter, any recommendation on the dosage ? hes 14 kg, 3-1/2 years old. Clemastine is available here under brand name of Tandegyl (Novartis). I will check out your older posts on clemastine, and research the science behind off label use.

      Also I called Kennedy Kreiger Institute, seems like Dr. Kelley doesnt work there anymore and the lady said we dont know if he might be working anywhere else or doing research only.

      For Dr. Kelleys therapy I have started all pharma grade ingredients and I will go full dosage slowly. When do you think I can introduce clemastine ?

      Also, can you check why the comments in 24 hrs section is not working, it was very convenient.

      Thanks again for your help.

      Delete
    3. Adam, my 4½ yo 19 kg does 0,5 mg clemastine twice a day without any problem and with a small effect.

      Delete
    4. Adam, I would look up the pediatric dose of clemastine for allergy. Dr Kelley has retired.

      I think you can add clemastine at any point, it is just a question of attributing any positive effect to which the right substance.

      The comments in the last 24 yours uses a service from Feedbucket, which has stopped. It did happen before and then they started again.

      I added a different last 20 comments feature on the lower right if the screen. It worked for several days and then stopped. This is an issue with the feed provided by blogger/google.

      All 3rd party add ins to blogs are unreliable.

      Delete
    5. Adam

      You can install a feed reader on your computer, like this free one

      https://chrome.google.com/webstore/detail/rss-feed-reader/pnjaodmkngahhkoihejjehlcdlnohgmp?hl=en

      Then subscribe to the comment feed from my blog, by inputing the location of the feed.

      https://epiphanyasd.blogspot.com/feeds/comments/default?alt=rss

      This then gives you the comments from the last 24 yours.

      It works, I just installed it on my computer.

      Delete
  21. Where can we buy clemastine?I live in Spain.Here I cant find.

    ReplyDelete
    Replies
    1. Look on google and ebay.

      It can be ordered from legitimate online pharmacies in the UK and Baltic states. It is just a question of whether they want to ship it to Spain.

      Delete
  22. Hi Peter. I only discovered your blog two days ago so am doing plenty of reading. I am a little confused as to if my 12 year old son has classic or regressive autism. He was 3 and a half years old when it was pointed out to me that he was doing the opposite to what he was asked in pre-school. After I started to investigate, things got rapidly worse. While his language didn't disapear, it stagnated a lot. Now, his (and our) challenges are anger outbursts, constantly repeating the same questions and he is OCD about the answers he wants. He finds it very difficult to listen and take instruction. I had genetic testing done for him with Dr. Elizabeth Way in Australia. She has suggested a lot of supplements but among them is the Broccoli Sprout, NAC and Ubiquinol. His psychiatrist recently prescribed Guanfacine (1 mg) for him at night which he started one week ago. We trialled the Bumetamide during the summer with no visible positive effect. I took it out two days ago and restarted it. I am thinking though that maybe he as regressive autism and these won't help him. Can I try ALA or do I have to do this at weekends every three hours (as per Andy Cutlar protocol). I would really appreciate any advise that you can give because my son seems to be a non-responder to most supplements we try. The one supplement that did work for him was Melatonin but we took him off it when his sleep improved. Kind regards. Sharon

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    Replies
    1. Sharon, if you are dealing with aggression, irritability and OCD chances are good for antioxidants to work well for your son. However, most are weak and you do need to reach a certain level before you see any results. NAC is probably the strongest one, note the high dosing that is used for autism. ALA, Broccoli sprout works for some but personally I've seen more result from fisetin in combination with others
      Good luck, if you find what works for your son life will get easier.

      /Ling

      Delete
    2. Sharon, I do not know which genetic testing you have done; Whole Exome Sequencing (WES) gives useful information in about 35% of cases. This does require some proactive interpretation of the results. Hopefully you were given a written report.

      Mitochondrial disease can be diagnosed (albeit subjectively) from a blood sample, as used by Dr Kelly. A muscle biopsy is a common mainstream test, but some autism doctors will say that it can just be a brain-specific dysfunction. If your son has poor exercise endurance that might be linked to a mito-problem; if he runs marathons, I doubt he has faulty mitochondria.

      Anecdotally, people with late regressive autism do not respond to Bumetanide, but may respond to the ketone BHB. That would make sense if they have a problem using glucose from their blood as a fuel for their brain. You can buy potassium BHB online from iHerb. BHB is an alternative brain fuel, that bypasses some steps in the mitochondria, that glucose requires.

      Your autism doctor could measure whether your son has oxidative stress (GSH/GSSG ratio), or you can just make a trial of antioxidants. NAC and ALA essentially do the same thing. There are sustained release versions of both. For NAC, 2,400mg split into 3 or 4 doses a day is typical.

      If you get a positive test suggesting a mitochondrial disorder, you can try Dr Kelley’s suggested therapy.

      Delete
    3. Hi Peter this can be my son so that's why was a no responder for bumetanide si i can try Bhb thanks.

      Delete
  23. Hello Peter. Happy 2020 to you. Thank you for your replies to my previous posts. The DNA Testing we did via TACGA (the Australian Centre for Genomic Analysis) was the Intellxx DNA Test. I think that I need to go back to college to interpret it! We were given some help and recommendations via skype from TACGA. Thank you for the recommendation for Fisetin. I had been reading up on it prior to your recommendation so have ordered it on iherb. The capsules are 100 mg - can you recommend a dosage for my 12 year old son please? I looked up the Potassium BHB on iherb and it seems to be a drink for athletes. is this correct or would you mind giving me a link to it? We trialled 2500 mg of NAC on our son today (2 tablets in the morning, 2 at lunchtime and one in the evening. He was extremely echolalic and while not openly aggressive, he wasn't in great form either. Should we keep trying it or try ALA instead? Is Alpha Linoic Acid ok to take as a supplement? He has never taken ALA. He did take DMSA as a chelator over many weekends, following our biomedical consultant's recommendations two years ago. From memory I think it was ten weekends of DMSA every eight hours and then we had a break of a few weeks. We didn't see any great gains for our pretty much non-responder!! Thanks again for your time and thoughts Peter. sharon

    ReplyDelete
    Replies
    1. It's me recommending Fisetin, while Peter proposes NAC. They have somewhat different actions.

      I asked one of the Fisetin researchers for dosing, and she suggested a daily dosage = weight in kg * 2-4 mg.
      We use 50 mg for a 19 kg 4 year old with good results, but even at 25 mg we saw a change (this was on top of other interventions).

      It sounds like you are doing a lot of changes at the same time; Guanfacine, Bumetanide and antioxidants. In my personal experience it's always better to try one thing at a time, with some time between. You get more confident with results this way, and don't mix them up with each other. I have regretted every time I did 2 changes at once.

      /Ling

      Delete
    2. Sharon, potassium BHB can be bought as a powder:

      https://www.iherb.com/pr/Julian-Bakery-InstaKetones-Potassium-91-lbs-414-g/77539?rec=iherb-pdp-featured

      or as a liquid (ketoForce). In the US both are easy to buy, but they are not cheap. Outside the US, KetoForce is hard to buy.

      If someone has a genuine mitochondrial disorder or has a problem with glucose transport to the brain (as in Alzheimer's), then a trial of BHB is a good idea. Many BHB products are based on sodium or calcium. Potassium seems a better choice since many people with autism have calcium ion channel dysfunctions. Giving calcium to a child with autism can worsen their autism.

      ALA is very similar to NAC and may produce the same result. ALA is as safe as NAC.

      Delete
  24. Apologies Ling. I didn't realize that it was you who recommended the Fisetin! I will pair back on recommendations and do one thing at a time. Will see how things are in a few weeks. I am hoping at some stage this yer to trial Oxytocin Nasal Spray for sociability but that will not be for a while. Thank you also, Peter, for information on Potassium BHB. Sharon

    ReplyDelete
  25. Hi Ling / Peter. We are tipping along and my son is doing a little better. He is on 100 mg Fisetin, as well as 500 mg of NAC per day. He is also taking the Brocolli sprout powder (Jarrows Formula) but I am planning to try Avmacol Brocolli Sprout when he finishes the other. Can I ask you about a medication for anxiety / verbal OCD? He is currently taking a low dose of guanfacine and SSRI (Prozac) but his OCD has got much worse over the last month. His anger episodes have decreased over the last week (could this be th Fisetin). I am not sure what may to progress with medication. I have asked his Consultant Psychiatrist to call me about this medication as I think my son could be doing better. I was going to ask him for Clonazapam instead of the guanfacine and /or Prozac. Have you any recommendation as to what medication my 12 year old son could try? Kind regards. Sharon

    ReplyDelete
    Replies
    1. Hi Sharon,

      Sounds like you are now doing a lot of interventions on oxidative stress. They probably stack so that could be a reason you see less anger episodes. You could try to double/triple NAC for a few days to see if it makes any further difference.
      If he is worse, maybe remove something you added in lately?
      Best,

      /Ling

      Delete
  26. Hello,
    What an excellent blog! I wish I discovered this sooner. My son has regressive autism and a rare sleep related epilepsy. I suspect that l-carnitine would be helpful, but am unsure if I should be looking for acetyl l-carnitine or just l-carnitine. The latter would be easier as I cannot seem to find liquid acetyl l-carnitine (it would be pretty much impossible to get my son to swallow a capsule), but if necessary, I will keep looking.
    Many thanks!!
    Janet

    ReplyDelete
    Replies
    1. Acetyl carnitine is claimed to be better absorbed. It will give the same effect.

      I think you can buy this as a powder, but learning to swallow tablets is a very good idea.

      Delete
    2. Thank you very much & thank you for the extensive research you have done.
      We will find a source of liquid or powder acetyl l-carnitine & agree - learning to swallow tablets/capsules is important...just tougher than we thought, so want to get this started in the meantime.
      Kind regards,
      Janet

      Delete
  27. Hi Peter,
    Many thanks for all your efforts and sharing all this with us. I have an 8 year old daughter and she started regressing and losing some of her skills after 2.years old. around the time I stopped breast feeding and immunisations, 2 ear infections and antibiotics. We have made gains with aba but she lost them again and regressed again, she regressed so many times that I cannot count until we started the diet which somehow helped slow down regressions and we did biomed for years some really bad days but some good days. Now we stopped all supplements and she seemed she is doing alot better I do not know what really helped but we decided to try supplements one by one and started with NAC which has amazing effects, more speech , more present , more imagination, more understanding , we have been doing silica water and coconut water kefir too but I think it is NAC helping as I cut it off a few days she was worse. introduced b vitamins hydroxy and b minus, folate etc one by one and all made her really irritable, then I cut them off and introduced selenium which makes wonders along with NAC now. I cannot believe the days I am having with her , I counted only 2o mins of autism yesterday , maybe just exaustion it was, today we introduced Carnitine cut off other supplements, almost no change from yesterday. How long should I give carnitine to see the affects if any? Why would b vitamins and all those biomed was not working? biomed doctor says her methlation pathway is not fixed, mthfr a1298 is from both parents but was told this is present in 50 percent of population. she always suffered badly with detox and killing protocols and no improvement more regression. she also has hyper flexible hips and knees, seemed lethargic, less energetic than her peers, not jumping or running properly , tends to move slowly, tired, as if no energy however, she can cycle 10km, swim over100m non stop.

    ReplyDelete
    Replies
    1. Fatma, autism is just an observational diagnosis. Many hundreds of different things can upset both how your brain develops in childhood and how it functions at a point in time.

      To be successful you have to treat what is disturbed in the case of your daughter and not what might work for some other people. The problem is that you cannot easily find out exactly what has caused your case of autism, so there is a lot of guesswork and trial and error.

      One feature of most autism is oxidative stress and low levels of the antioxidant GSH. NAC increases the level of GSH.

      Your body also has a family of catalysts called GPx, which speed up how fast GSH works. GPx is made with selenium.

      Selenium is also part of the enzyme D2 that makes the thyroid hormone T3.

      If you lack selenium in diet, lots of things will go wrong. It looks like your daughter was lacking selenium in her diet.

      Refining Antioxidant (ROS & RNS) Therapy in Autism - Selenium and Molybdenum
      https://epiphanyasd.blogspot.com/2016/12/refining-antioxidant-ros-rns-therapy-in.html

      Some people respond quickly to carnitine. People with mitochondrial disease are often advised to take carnitine, but some never see a clear benefit. Dr Kelley seems to suggest that the key part of therapy is to avoid further regressions and just hope for the best. Some people with autism caused by mitochondrial disease do well and make big improvements, while many others do not.

      Delete
  28. I have a 19 month old who experienced a regression at 15 months. What is the best route to take for him? Where can I get testing done and what supplementation do you recommend? We are gf/cf and taking omega-3 and omega-6 fish oil with dha and epa. Thank you for such an informative, well researched post!

    ReplyDelete
    Replies
    1. If you live in the US, you could contact the Kennedy Krieger Institute and ask who has taken over from Dr Kelley (he has retired). You could also contact Dr Richard Frye at Arizona Children's Hospital in Phoenix.

      If they diagnose mitochondrial disease/dysfunction, they would likely prescribe the kind of combination of supplements listed in the article above.

      Delete
    2. Thank you, I'm in the UK but maybe they will be able to do it remotely.

      Do you know how long after a vaccine regressive autism would show up? Is it immediate? For my son it was around 2 months after the vaccine. Thank you again!

      Delete
    3. Some people do regress around the time vaccines are given and then parents assume there is a connection. In your case a gap of 2 months suggests the problem was not caused by the vaccine.

      You will struggle to find any meaningful help in the UK.

      You could try and figure it out yourself, for example try Dr Kelley's suggested therapy in the above post.

      Or, you go and consult with a medical doctor who knows about autism. Most of these are in the US. Our doctor reader Agnieszka is in Poland and there are autism doctors in Italy.

      The best time to treat autism is now. Delaying treatment will limit its effect.

      Delete
    4. Thank you very much. Will I have to supplement indefinitely? Will he take these for the rest of his life into adulthood and beyond? Thank you again!

      Delete
    5. If you can intervene very early, you maximize the benefit from all the years in school when you need optimal brain performance. Some people do later stop, or reduce their therapies. It all depends on what the underlying biological problem is.

      Delete
  29. Hi Peter, first a heartfelt thank you for your blog. I'm reading it every spare minute since I've found it - as I have a 7 yo. twice exceptional son with Asperger's. As I'm quite new here, I have a question that might have been addressed already: how do I try Carnitine if it has a very low bioavailability? In what form/ dosage? Thank you! Eszter

    ReplyDelete
    Replies
    1. Eszter, there have been many studies that used Carnitine, here is a recent review.

      Effects of L-Carnitine in Patients with Autism Spectrum Disorders: Review of Clinical Studies
      https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6930613/

      For mitochondrial dysfunction a typical dosage of L-Carnitine is 50 mg/kg/d.

      In some people there is an almost immediate benefit. In other people there is no apparent benefit.

      At doses up to 100 mg/kg/day side effects are not common.

      Delete
    2. Thank you very much for the information, Peter. Now I have been trying a 50mg/kg/day for my son. However, the first supplement I could get my hands on also contains 200ug chrome/ day along with the carnitine. Now today he was extremely irritable and restless - such as I haven't experienced for very long. Nothing else is new in his environment/ supplements. So my question is, should I have started gradually maybe? Or is it a known side effect that will hopefully fade? Or could it possibly be the chrome? Thanks for any thoughts on our situation as this has been quite alarming today with him. Eszter (Hungary)

      Delete
    3. Eszter, in the research the side effects of very high dose carnitine (400 mg/kg/day) are listed as mild diarrhea and an unusual odor.

      Your son is having a negative reaction, so you should stop.

      The problem might be something in the supplement (colorant, fillers, the chrome etc) or it might be the carnitine itself.

      Delete
    4. Please start at a very low dose and titrate up slowly. My kid reacted with aggressive episodes to various forms of Carnitine (OTC, Rx, compounded) even in small doses and I am still figuring this out. He seems to tolerate it better in a cocktail with other mito supports. Even in kids who have a positive response, it is recommended to titrate up as this can be very energizing.

      Delete
    5. Thank you! I'll give it a very gradual new try then once he's back to 'base line'. (Actually my 7yo son's 50mg/kg/day is 2.5x the amont adults are not adviced to exceed..) Also, maybe I'll rather try acetyl-L-karnitin, as it's supposed to cross the BBB better, as I read.

      Delete
    6. Hello Peter and all, just a feedback. Turned out, my son’s sudden change for the worse was probably not due to starting L-carnitine (that just happened to be a coincidence), but PANS caused by his flu shot the week before. Unfortunately PANS was not on my radar, so I put two and two together quite delayed (though I consulted 2 pediatric neurologists plus I am a neurologist myself), as I live in a country where it is a completely unknown diagnosis. Thankfully, however, his symptoms were not extremely severe to begin with, and he seems to respond well to NSAID.
      Best regards, and thank you, Peter and all for all the info I’m reading (nowadays practically day and night) on this blog. Eszter

      Delete
    7. Thanks for the update Eszter. Readers will appreciate that even a neurologist struggles to treat autism.

      Delete
  30. Peter, wish I had found this site earlier! thanks for your efforts to suggest alternative to 20 hour ABA and speech therapy! we have a 5 year old who was diagnosed with ASD at age 2 in the US, were told to do 20 to 40 hour ABA and speech therapy as the only options! We dutifully went about only to find that not only did our son not respond well to these but also developed negative feedback (he figured out that all of these are just variants of repetitive mass trial, do something 100 times with an enforcer and he can do it 101st time; he began shutting therapists out and stopped responding to things he used to respond to earlier). recently we found that he is intelligent beyond his years (math, language, cognitive). eye contact was good mostly all along, responds to name mostly, social interaction with peers in preschool & adults is reasonably good (could be better but decent), no sensitivities to sound, light, smell, different environments, change of routine etc whatsoever. Receptive language has improved dramatically over the past 18 months, is able to understand and respond to even subtle changes in tone from people, comprehend stories. affectionate, loving, smiling. Comprehensive genetic testing did suggest that there is a CACNA1 gene variant, also in mother which has had zero issues all along her life and has been reported as uncertain clinical significance. No family history in mother or father of neurological or other issues. Pregnancy was fine (albeit IVF). which brins us to the 2 main concerns: hyperactive behavior with lack of focus and attention to complete tasks (constant fidgeting, running, jumping) been present all along. Has some object to hold in his hand and bang with it, scratch on the wall but is able to let it go pretty much every time on demand from us or teacher with zero tantrums. If occupied, can go w/o objects for a long time but does go back to it. Could be deemed repetitive behavior but has always been in full control of this "repetitive behavior" evidenced by easily giving it all up (but does go back to it after a while). Second issue - red flag, spoken or expressive language is very weak. Seems to fly in the face of receptive language being strong, he has words but doesn't seem to want to use them. But we also feel it doesn't come to him to use spoken langauge. Drags us to what he wants, brings things to us, recently started AAC device and is using it quite well (press buttons on iPad app to communicate). Labels aside (could be ASD, Asperger's, ADHD, some have suggested motor planning/apraxia). He did seem to regress in spoken language but was never quite good with spoken language, used to fill in blanks in nursery rhymes etc but don't think he communicated using spoken language. Several experts dismiss it a little too easily as ASD, some indicate possible ADHD, motor planning but go back to the tired old way - ABA and speech therapy. Preschool special ed teacher started that way but recently sees it differently....we ourselves are somewhat inconclusive (if it is ASD, likely regressive but maybe element of classic too?). What are the things you might suggest and in which order? Mitochondrial test? Oxidative stress test? NAC first and then perhaps butenamide? Should we try see Dr. Kelley or Fyre or someone else (we are seeing a pediatric neuropsych next week)? Speech is the big red flag, hyperactivity/lack of focus and attention + some mild form of repetitive behavior perhaps are the key concerns. Could argue not very interested in people too but on the mild side of that. Long comment but he seems to not quite fit a standard profile, so I was providing more context. Would very much appreciate your thoughts and suggestions. Thanks in advance for your time.

    ReplyDelete
    Replies
    1. The CACNA1A gene is relevant, but quite possibly needs a further genetic dysfunction, or environmental trigger, to become damaging.

      Your son is still young; if he develops a problem like headaches or seizures it likely relates to this gene. You should also keep an eye on his blood sugar, since there is an association with diabetes.

      The drugs found to be helpful in people with dysfunctions in this gene include Acetazolamide, Verapamil and even Taltirelin (where there is ataxia).

      Making an appointment with Dr Frye is a good idea and expect to be prescribed, Leucovorin, B12 and NAC.

      If you want to go into the genetics you are likely to be referred to Dr Boles. Make sure you obtain the original full genetic report, not just the highlighted “autism genes”.

      Your son’s symptoms are typical of autism in a 5 year old. These symptoms will change as he gets older.

      I think trialing bumetanide for a month is a must for anyone with an autism diagnosis.

      Dr Frye can use the buccal swab test for mitochondrial disease. It seems to come back positive very often; this test is an experimental test. Then I supposes he recommends his mito-cocktail. He will very likely also test for Folate receptor antibodies.

      Delete
    2. This sounds like my daughter almost to a T and I am worried about the same response to therapy -- while we haven't tried therapy yet, she has had a similar response to us attempting to encourage her to speak (stopped responding to things she knows we are forcing her to do). Have you tried mitochondrial therapies? Did you end up speaking with Dr. Frye? He is now local to us so we are considering trying to get an appointment with him. I know this comment is old but figured I would ask. Comforting to know there hasn't been a conclusive diagnosis -- I'm not 100% sure it is ASD but pediatricians have pointed in that direction.

      Delete
  31. Thanks so much. We will keep an eye out for seizures & headaches as potential complications from the gene mutation. HbA1c and sugar so far is perfectly fine, so diabetes at least as of now seems to not be an issue. You say these are typical symptoms and will change as he gets older, what can we look forward to in this aspect (in your opinion, no one knows how things could play out?). Change for the worse or better?
    1. We are going to get NAC and try it using your protocol. We tried pea protein milk for a long time & that ended up causing too much B12 in a blood test, so we are hesitant. Leucovorin may need more input from a doc too. But I see no harm trying OTC NAC right away?
    2. We are going to try get an appointment with Dr. Frye. Bumetanide - we will ask him and will also ask Neuropsych this week.
    3. Not sure we are going to pursue genetics further now, but appreciate the introduction to Dr. Boles. We may look into it later if helpful.
    4. The 3 drugs mention - I am noting these down if needed in future.
    5. Lastly - any thoughts on LDN?

    ReplyDelete
  32. 6. Sorry I forgot to ask - my brother suggested Neuroprotek - in fact researching that led me to your website. I also did find this article (you probably have seen it already!). https://www.spectrumnews.org/news/bumetanide-may-benefit-only-a-subset-of-autistic-children/

    ReplyDelete
    Replies
    1. NAC is OTC and is well tolerated by most people. The effect is from the first dose, but it only lasts about 4 hours, so you need to take it throughout the day.

      LDN and Neuroprotek are among hundreds of drugs/supplements that some people find beneficial. There are good reasons why both these might be helpful for some people. You would have to try them.

      Bumetanide is only effective in some people with autism, I would say it is a large minority of those with severe autism. For an autism therapy, those are good odds. There is no test, but people who have had a negative reaction to benzodiazepine drugs, like Valium, are very likely to be responders. These days most autism diagnosed is mild and I think such people are much less likely to respond to bumetanide.

      Delete
  33. hay alguna forma de verificar sin mi hijo tiene autismo regresivo o clasico.

    Mi hijo de 7 años siempre presento algunos signos de autismo, pero hablaba un poco , miraba a los ojos, luego como a los 5 años perdio todo lenguaje y inicio con estereotipas.

    Deseo iniciar algún tratamiento pero debo saber cual es el camino a tomar

    Melisa

    ReplyDelete
    Replies
    1. Hola Melisa, es mejor si publicas tus comentarios en inglés para que lo vean una mayor cantidad de personas que te puedan ayudar. Es muy difícil saber cual camino tomar a menos de que el autismo de tu hijo sea provocado por algunos de los Genes de los que se tiene conocimiento que existe una relación. Lo que me ha funcionado a mi es iniciar un tratamiento y ver si funciona o no, empecé con la Bumetanida y después de 2 o 3 meses vi resultados. No todos necesitan tanto tiempo y siempre debes iniciar con una dosis muy pequeña.

      Delete
    2. Melisa, I meant to say is that when you make a trial with other interventions it doesn't have to take as long as the trial with Bumetanide, and that every time you try a treatment it has to start with a very low dose. Dr Frye states that about 80% of autistic children may have abnormalities of mitochondrial function, so it is a good idea to treat it.

      Delete
  34. Hi friends,

    I thank you so much, in my country Bumetanide was discontinued, I will start NAC with a low dose to see the results

    My country is a place where we are far from thinking about autism in this way

    I appreciate your help and advice, my son is not a candidate for therapy because of his delay.

    ReplyDelete
    Replies
    1. Hi Peter,

      I have 2 kids on the spectrum with regressive type ASD. A 5 yo boy with severe ASD and a 4yo girl with mild ASD.

      I've been looking and attempting different supplements for 3 years now and nothing seems to have helped my son. I think after reading some of your blog posts that I might have under dosed him. For example, I dosed my son at 600 NAC once a day (he is 27kg). Do you think that it is worth trying again? Or should we assume we would have noticed at least something at this dose and move on to the next supplement?

      Delete
    2. Sandra, I think you would need to try 600mg NAC 3 or 4 times a day for a couple of weeks to know whether your son benefits.

      If you can make a trial of bumetanide, that is highly advisable for any child with severe autism. In those who are responders, the impact is very substantial.

      Delete
  35. Hi Peter,
    My daughter is 4y old and I believe she has regressive autism. How would you recommend to combine the treatment plan mentioned above? Can all those supplements be taken in a day, or would you split it up in a way?
    thanks

    ReplyDelete
    Replies
    1. There is an all in one product called Spectrum Needs which is now sold. It is similar to Dr Kelley"s therapy.

      It does work well for some people, so well worth a trial.

      Delete
  36. Thank you Peter. We will give it a try and keep you posted on the effects.

    ReplyDelete
  37. Hi Peter,

    I am sure you get asked this all the time, but...
    Where and how would I be able to get bumetanide prescription in the UK?
    I have no doctor friends or other pharmacist contacts.

    Thank you
    Peter

    ReplyDelete
    Replies
    1. Peter, I get UK doctors asking me how to get a prescription for bumetanide for their own child. Very strange. The US and Australia are better.

      The best thing is probably to consult an "autism doctor" in a nearby country. Many readers, including some from the UK, see Dr Antonucci in Italy. You can find him by googling "Dr Antonucci autism". There are many other possibly beneficial therapies and you can ask Dr Antonucci.

      Delete
  38. I want to share my 4 yr old daughter's experience with L-carnitine. She does not have an official autism diagnosis as of yet, however, she does exhibit signs and symptoms of autism, albeit what seems to be mild. Her main issue is speech delay and echolalia (I believe she is a gestalt language learner) but she does have spontaneous speech and understands what we say to her when we have her attention. Overall, she has no issues with eye contact or affection, enjoys social situations with both children and adults (though, opportunities have been limited due to pandemic and personal circumstances), and exhibits no signs of stereotypy. She's known all of her colors, shapes, and alphabet and has been able to count to 30 since she was around two / two and a half.

    To make a long story short: things started to go downhill right around when I started to wean her (I hadn't connected the dots until now). It didn't strike me as a regression because she didn't lose skills, she just seemed to become interested in acquiring other skills and wasn't as interested in other things. She never lost her speech or eye contact, the development just seemed to stall rather than regress.

    She's always been a picky eater with food sensitivities (dairy has constipated her since she was little) and the texture of meat always turned her off. Enter: the L-carnitine connection -- if she wasn't getting it from breastfeeding and it wasn't being provided by the diet, could this be the reason for the "regression" / stalling?

    I read a study soon after that suggested a connection between high male hormone exposure and a possible effect on the receptor that allows L-carnitine to cross the blood brain barrier. As someone with PCOS (a population twice as likely to have children with autism, I found out recently), I know that without a doubt there would have been exposure to high levels of testosterone during pregnancy. Interestingly, she was born with very large feet and was in something like the 99th percentile for height (possibly an effect of testosterone on the skeletal structure?).

    So, I decided to give her L-carnitine and gauge her response. I'm not kidding you when I say there was an improvement overnight. It was like the light came back to her eyes, she's more vibrant, and I'm seeing the baby I used to see two years ago. Thank you for sharing!

    ReplyDelete
    Replies
    1. thanks for sharing your story, most areas are similar to my daugther where speech being the main issue. btw my wife got PCOS too, i had similar thoughts after reading some articles about it. i am using acetyl-l-carnitine more like as norotropic. can you share which brand you use for L-carnitine? i guess it is not acetyl version right, as they do act in different ways. good to hear she has responded well, which is the key in all these improvement trials.

      Delete
    2. So nice to hear of someone with a similar story! I wonder if because it could be primarily related to one factor (high levels of testosterone secondary to PCOS) if it creates a specific subset of autism? From what I've seen, it seems that the researchers believe there is a small percentage of non-syndromic autism cases related to L-carnitine dysregulation and that this may be related to a receptor affected by estrogen / lack thereof. Really, really interesting.

      I have been using the acetyl-L-carnitine for her the last few days just to gauge her response and see if it is potentially more effective. The acetyl-L-carnitine, because of the acetylation, is believed to help the L-carnitine cross the blood brain barrier. At the same time, some research has found that it's not as bioavailable via the gut as free L-carnitine and that the free L-carnitine may be more effective simply because of higher absorption. The L-carnitine gets acetylated in the gut regardless (although, the state of the gut to begin with could undoubtedly affect this) so there really isn't necessarily a need for the acetylated form, especially when the absorption of L-carnitine overall is probably important in this case. Most of the studies have used free L-carnitine, anyway.

      I want to say I saw the most dramatic improvement with the L-carnitine in its free form and it was virtually overnight! The progress has maintained thus far with the acetyl-L-carnitine but I am going to switch back to the free L-carnitine now to see if progress will continue. I am using the Thorne brand for free L-carnitine but have been using the Now Foods brand for the acetyl-L-carnitine which has a good reputation in terms of purity and potency and is very affordable.

      Have you explored any options for speech / occupational therapy? I am looking into some services but would be great to hear someone else's experience!

      Delete
    3. thanks for the detailed response, i see improvement from acetyl-l-carnitine, but may check l-carnitine at some point. my daughter has dysbiosis too, which we manage with probiotics, diary/gluten free diet and psyliium husk, etc.

      yes, we used to had 2hrs 3 times a week ABA practicioner. we also started to trial at home ourselves after doing quite a lot of reading. here is list of reading i have done, some related to speech practice "Verbal behavior" from Mary Barbera and "It takes two to talk" are good books.


      1 Enrico Gnaulati "Back to Normal"
      2 Naoki Higashida, David Mitchell "Fall down 7 times, get up 8"
      3 Stephen Camarata "Late talking children"
      4 Steve Silberman "Neurotribes"
      5 Mary Lynch Barbera "Verbal Behavior"
      6 Robert Koegel, Lynn Kern Koegel "Pivotal Response trainings for ASD"
      7 Jan Pepper and Elaine Weitzman "It takes two to talk"
      8 Karen Weintraub, Dr Martha Herbert "Autism Revolution"
      9 Dr James Koplan "Making sense of autism spectrum disorders"
      10 Julie Matthews "Nourishing hope for autism"
      11 Dr William Shaw "Biomedical treatments for autism"
      12 Dr William Shaw et.al. "Beyond the basics - treating autism"
      13 Jaquelyn McCandless "Children with Starving Brains: A Medical Treatment Guide for ASD"
      14 Lisa Lewis "Special diets for special kids"
      15 Stephanie Marohn "Natural Medicine guide for autism"
      16 Karyn Seroussi "Unraveling the Mystery of Autism and PDD"
      17 Jon B. Pangborn, Sidney MacDonald Baker "Autism: Effective Biomedical Treatments"

      Delete
    4. Thank you so much for sharing! I really appreciate it.

      Did your daughter benefit from ABA Therapy? We have not looked into ABA Therapy yet but are hoping to enroll her in a developmental delay preschool here locally. We're hoping that maybe more interaction with peers will encourage her to speak more but are worried that she may not be responsive to therapy as she's very strong-willed (haha). As of right now, just focusing on the interests she displays at home (which right now is numbers, letters, spelling, and reading), which she is making great progress in, but we aren't making much progress in the way of things she's not interested in (i.e. using utensils to eat).

      Delete
    5. Yes, she did respond ok to ABA, ABA is too "mechanical" ut is the basic one to start with if no speech at all, so ideally other methods follow (Discrete Trial Testing, Verbal Behavior, Pivotal Response Method, etc.) to make it more "naturally" fit to daily routines.

      also try some useful apps, "Splingo" is good one to start with, it is free. then you can take next to "Reading Eggs" to help with her reading.

      Delete
  39. Peter,

    It occured to me that on this very page, I see there are several who people whose children fit a very similar pattern (my son, Vik included) and I feel they would all benefit to keep in touch with each other over the long term and share what succeeded and what failed. The current blog comments format makes it hard to follow and reach out one on one. I was wondering if you ever considered creating an fb group for folks who follow this blog? (managed anonymously or through a volunteer).

    This is just a thought that occurred to me. Feel free to not publish it.

    ReplyDelete
    Replies
    1. I second this! I have searched everywhere for other parents whose children are similar to my daughter. She doesn't fit a traditional autism pattern to the point where I had not even strongly considered having her assessed (no stereotypy, great eye contact, affectionate, social, just very strong-willed with highly specific interests and a lack of interest in the "typical" development areas) until very recently.

      I tried to look for other posts from you on here but couldn't find them. Can you share more about your son?

      Delete
    2. Unfortunately, Facebook blocks links to Google's blogs, like this one. They want you to stay on their platform, so they make money from advertising. This means it is hard to be on both Facebook and Google.

      There are FB groups about treating autism.

      Most people want to be anonymous when they talk about treating autism, which also adds complications.

      Delete
  40. Hello Peter, Can kids with regressive autism also benefit from Bumetanide?
    Thanks

    ReplyDelete
    Replies
    1. I think this is highly likely.

      Some people with Down syndrome also benefit.

      It is worthwhile everyone making a trial for a few weeks. It is a very cheap generic drug.

      Delete
  41. Hi Peter - I see the link to the original PDF is broken. Do you happen to have a copy that you could add directly to the page perhaps?

    ReplyDelete
    Replies
    1. David, I did copy the document to my Google drive a while back. Here is an open link to that copy.

      https://drive.google.com/file/d/1phHEfm-RHPx1GzuUYx4IgRUzOu4d2EyO/view?usp=sharing

      Delete
    2. Excellent! Thank you very much, Peter!

      Delete
  42. Hi Peter, I am new to your fantastic blog. My son regressed dramatically into autism at the age of 4, with the complete loss of language, cognitive, play, eye contact and so on. He was neurologically normal before. He was diagnosed with regressive autism and then with Pans. I was reading this post about mitocondrial desease and I am really impressed, there are many likenesses with my child's story. It is something I would like to further investigate. I already started carnitine and will try the other supps mentioned above. Which are the tests that can be done in a hospital to be sure that there is mytocondrial desease?
    Are there supps or meds that can invert the regression and allow a recovery? My son is now nearly 7. He also has lots of vocal and motor tics and we are doing ivig

    ReplyDelete
    Replies
    1. There are a variety of different tests that can be done. You need to find a specialist in mitochondrial medicine and see what tests they use. There are blood tests, cheek swabs and DNA tests. It is a little subjective and there are different types of this disorder.

      Normally treating mitochondrial disease is more about protecting against further regression and supporting a gradual improvement. Some people make great progress while others do not.

      Delete
  43. So there is no recovery chance (or just a slow and few chances) in case of regressive autism if that is due to mitochondrial desease?

    ReplyDelete
    Replies
    1. According to Dr Kelley, some people do make a substantial recovery from mitochondrial disease. As many people on this noted there are many other possible causes of regressive autism other than mitochondrial disease. This includes many in born errors of metabolism. Go to treatable-id.org

      Delete
  44. Hi Peter, My 7.5 yo nephew is verbal but not conversational. He doesn't understand context and questions, so can't answer. He has rotten language. How to help him? Plesse guide me. Thanks

    ReplyDelete
    Replies
    1. People with level 3 autism and/or intellectual disability very often have great difficulty with language. This is to be expected.

      For some people the main problem is expressive language (speech), rather than receptive language (understanding you).

      Some people can write/type quite fluently, but have limited to zero speech.

      For many people the problem is impaired cognition, so they cannot figure out what other people mean.
      .
      What, when, who, where, which all just sound the same, like "wh… ".

      There are very good teaching resources for “Wh questions” that include books, exercises, computer apps etc. Most come from the US. Look via google or a site like www.difflearn.com

      You either pay a speech therapist for hundreds of hours of 1:1 therapy using these resources, or the family do it themselves. Leaving it all to the school system rarely gives the best possible outcome.

      For some people you can treat their autism medically to raise cognition and then the child can learn like a typical child. This is the best method, but you have to find what therapy is effective in your nephew's specific case of autism.

      Delete
  45. Hi doctor, where do I get this test done? And what type of test is it called to identify mito dysfunction?

    ReplyDelete
    Replies
    1. Not a doctor, but you can read about diagnosing mitochondrial disorders here:

      https://www.mitoaction.org/diagnosis/diagnosing-mito/#:~:text=Biopsy%20testing%20is%20used%20to,standard%E2%80%9D%20for%20diagnosing%20mitochondrial%20conditions.

      There are many different approaches and it does not look like an exact science, unless there is a specific genetic mutation identified.

      Autism parents clearly prefer the cheek swab test.

      https://religendx.com/faq-mitoswab/

      In the end you will end up with whatever testing method the doctor prefers. If you go to a children’s hospital in a large city there will be specialists who deal with mitochondrial disorders.
      It looks like there is some over-diagnosis going on, i.e. false positive test results.

      Delete
  46. Peter - again, huge thanks for this! I want to point out that the format of the page makes it look like the Vit C and Vit E are optional because the text from the Nicotinamide and Thiamine (whcih are actually optional) wraps to the lines below.

    ReplyDelete
  47. Hi Peter, I'm new here, my son (4 1/2) was recently diagnosed with autism (although his therapist says he doesn't qualify for autism). He maintains eye contact, he points to objects, and says a few words. He walks on the balls of his feet, when he is very happy or very angry he hits his head. When told NO, he gets very angry and hits things. He has atopic dermatitis. It all started when he was two and a half years old (a month before he had an outbreak of a fever of 40 degrees Celsius, possible infectious erythema). Since then he has been hyperactive, episodes of aggression, he does not understand what is said to him and does not develop more language). What does he recommend I try? his eeg shows frontotemporal waves and 1-2hz peak wave paroxysms, but the neuropediatrician says that it is not landau-kleffner syndrome, he takes valproic acid and this has improved his understanding a bit. I'm a bit lost. I feel my English, I am from Spain. thank you

    ReplyDelete
    Replies
    1. Angela, there is a lot of trial and error in treating features of autism.

      I suggest you first establish if your son has bumetanide responsive autism. The best way is to make a 30 day trial. Depending on which autonomous region of Spain you live in, you may be able to just buy this in local pharmacy. In Spain it is called Fordiuran and it is normally used as a diuretic, but also has an effect on the brain. There is a lot in this blog about bumetanide and its safe use in autism. There currently is a shortage of bumetanide everywhere, so it may still be out of stock in Spain. Another Spanish reader told me a while back he currently cannot find it.

      Atopic dermatitis and other auto immune conditions like allergies and asthma are very common in autism and can make autism symptoms worse. You need to find what works best for him, when his skin is clear you will know you have succeeded. There are numerous strategies like mast cell stabilizers and even immunomodulatory probiotics. Just Google or Chat GPT probiotics to treat dermatitis. The best mast cell stabilizer is cromolyn sodium.

      Antioxidants can be very helpful to many people with autism. NAC is the best researched. If you can teach your son to swallow capsules, then NAC in gelatin capsules is viable. Otherwise there is Fluimucil which is an expensive type of NAC you dissolve in water.

      Delete
    2. thanks for your answer. I have left two other comments, excuse her. I forgot to say that he is very sociable, does puzzles and has symbolic play. His CT scan showed a lesion in the white matter that may be a dilation of the periventricular spaces (virchow spaces), we are waiting for the MRI test to find out more (the doctors do not give importance to this lesion, they think it is something normal) . He suffered from many headaches, the valproic acid has improved them. I am concerned about his hyperactivity, his attention deficit and his lack of language. I have read all your blog. I don't know what to start trying, if NAC, if vitamins, if carnitine, I had thought about trying cetirizine (perhaps it will improve dermatitis) and flunarizine (calcium channel blocker). what do you think? thanks for your help

      I thought about trying this combo of medications:
      1x probiotic
      2x NAC 800mg = 1600mg
      200mg coenzyme q10
      1000mg l-carnitine
      EPA 30mg
      multivitamin
      Flunarizine 2.5mg
      I can't get bumetanide, it requires a prescription in Spain. Do you think this combo will be too much for him? weighs 20kg

      Delete
    3. Peter, I was little shocked when you mentioned Cromolyn Sodium as the best mast cell stabilizer. Has your view changed about Verapamil being the best for mast cell stabilizer?

      Delete
    4. Verapamil is not known outside this blog as having an effect on mast cells and it has many other effects. Cromolyn sodium is widely used in autism and is actually OTC in Germany in the version taken by mouth (allergoval). I do think that people responding to cromolyn sodium are likely to respond to verapamil. A doctor should be willing to prescribe cromolyn sodium to someone with signs of allergy.

      Delete
  48. Not ketorizine sorry, cetirizine (antihistaminic)

    ReplyDelete
    Replies
    1. Angela, you have to go step by step try one thing at a time. If you try your combo, how will you know which parts work and which do not. Also at some point you will try a therapy that causes a side effect and you need to know what has caused it.

      As I mentioned, Spain is unusual in that different regions apply different rules. One Spanish reader commented that a relative in a different region could easily access the drug they were looking for. I understand that in Madrid it is not difficult to get a diuretic drug just by asking nicely.

      Delete
    2. Angela, you will also find doctors in Spain who will prescribe Bumetamide. There is a great deal of published information on its use in autism.

      Delete
  49. How would you find out the dosing of Verapamil and Bumetamide? Do you have a mg per kg recommendation?

    ReplyDelete
    Replies
    1. For Bumetanide a small child could take 1mg once a day, a child 10 year and older might well be better on 2mg once a day. You do have to add potassium in diet and a supplement and ensure a large intake of water to replace fluid lost in extra urination.

      Verapamil does work well for some people. A typical dose in a child 10 years old would be 20mg three times a day. Some people do benefit from a higher dose, those people should check for a mutated calcium channel via genetic testing.

      Delete
  50. Hi Peter,
    I recently found your blog - and bought your book, following your visit and talk in London. I was unable to attend, but heard great things from a WhatsApp group I’m in.
    My beautiful son regressed age 2 after (probably) covid, many ear infections and tonsillitis. He lost all of his speech, stopped dancing, clapping, pointing, everything just went. He developed tics and stims, and at age 5 still hasn’t regained speech. Many words came back when we did the Nemechek protocol, but that was 2 years ago now, and we’ve since wanted to/and have tested many areas to find imbalances etc. He’s improved in many areas, but zero speech and very poor attention span, which makes it difficult for him to learn - his understanding is very good though.

    Off the back of your book, we introduced NAC 2 weeks ago, and he immediately became more present, less tics and even his school commented on how happy he was. He developed a small facial rash and around his bottom, about 2 weeks in. I’ve read this can be yeast caused by the NAC? Is this true, and how would we counteract this please?

    We also started Acetyl L Carnitine last Friday, and WOW!! It’s been amazing for him, even on a small dose of 60mg as we work our way up with it. Much more present, enjoying boys and toy play (on short amounts) again. It’s been the biggest wow supplement we’ve seen with immediate positives. Guessing these means he needs more mito support?

    Thank you for all you do 🙏🏻

    ReplyDelete
  51. Hi Peter,

    I recently bought your book, after a recommendation from a friend who went to your talk in London. It is fascinating!

    Our beautiful boy regressed age 2, following (probably) covid, ear infections and tonsillitis. He lost all of his speech, stopped clapping, pointing, waving, eye contact, even smiling really, all within a matter of weeks. It was heartbreaking.
    The first biomed we tried was Nemechek and it brought back all that he’d lost within 3 months. However, he then had a diagnosis of PANDAS and we started long term antibiotic treatment. This also brought gains, but not like the NP, and actually, now, he has a lot of gut pain (we stopped the abx after 6 months).
    Fast forward a few years, he’s now age 5 with zero words, no interest in toy play, hasn’t regained some of the skills he got on NP, but has progressed with understanding, has never had food or texture issues, no meltdowns or physical behaviour problems either.

    We’ve tried lots over the years and he responds well to most things. Most recently, after reading your book we trialed NAC. It was an immediate, positive reaction! Next, we added Acetyl L Carnitine and WOW!! Even his school have noticed a calmer, happier, a bit more engaged boy. Does this indicate, along with regression, a need for mito supports? His results have show high succinic and a few low end mito, but it was never the biggest issue, or so we thought.

    Also, does NAC increase yeast? We have seen a small rash appear about a week into it. Very reluctant to stop as it’s doing wonders for him. Should we add in yeast support - what’s best for this, in your opinion?

    Thank you for all the information you share 🙏🏻

    ReplyDelete
    Replies
    1. I would now add in the other elements of the mito cocktail like CoQ10. There is the product Sectrum Needs which is a ready made mito cocktail

      For speech calcium folinate should definitely be trialed. There is blood test, just Google "fratnow".

      Bumetanide will be beneficial in about 40% of cases.

      Delete
    2. Thank you for your reply.

      We will add coq10 next. We are in the UK, so it’s very difficult to get any doc to prescribe leuvocurin - is that the same as calcium folinate you are suggesting? Or is there one we can buy?

      A friend has managed to get her doc to trial bumetanide following your talk, so thank you for that too.

      Delete
  52. 1/ (Needing to post multiple comments, my first writeup was too long)
    Hi Peter, I just found this blog last night and I've been perusing it for a few hours since then but still feel like I have barely scratched the surface. I am very happy to see you are still active, when the first post I came across was from 2015.

    My son is 3, turning 4 in April and had two main regressions and many minor ones (if he is sick, constipated, has a rash, canker sores, etc he will have much worse behavior and mood, and goes through periods of no speech or periods of a few words here and there). Now that I am thinking about it, even before this regression he had unusual behaviors like obsessing over finding my hair that had fallen onto the ground and staring intently at it, starting around 6 months old, or whenever he could sit up on his own. The first regression was heading up to 1 year old, where I realized he was starving because my breastmilk was disappearing due to pregnancy. I did not realize it for a while and when taken to the ER found he had lost 4 pounds over the past 3 months (21 lbs at 9 months old, and now 17 lbs at 12 months old). He had stopped doing much of anything, and was very lethargic, when he wasn't screaming like crazy and trying to nurse constantly. He would not for the life of him take a bottle and had not shown much interest in eating any food yet. (He did show a little interest at 5 months old, and when I gave him his first taste of food at 6 months old, he immediately lost interest, so I kept waiting.) BTW that ER was absolutely useless and just told me, "oh yeah, he needs to eat food. He'll gain weight when he eats food." Never mind the fact he wouldn't eat anything and wouldn't even drink a bottle. I had to research for myself what to do, and found a supplemental nursing system which is a bottle of formula with a tube that you use while breastfeeding. So, I used that for months, and my son started progressing again. I also put him into feeding therapy. He walked at 14 months but still had no words. When he was 17 months I gave birth, and by then he had been very cuddly and affectionate. He was still breastfeeding but now it could be breastmilk. He had his first word at 18 months old. At 20 months old he finally ate a bite of food. He slowly got a few words and mostly was very good at humming songs. But sometime around then he also was not as cuddly anymore and lost practically all eye contact. He sometimes had meltdowns where he would cry for an hour or so. He was still mainly breastfeeding but I could slowly introduce a few bites of food a day. He still never played with toys in a normal way, all he wanted to do was throw them, or sometimes having a favorite toy like a block he would just carry around. Some time around 2 years old I tried our first bottle of TRS and he regained some eye contact. Sometimes he learned phrases that he would repeat and there were songs he would sing. No functional speech though.

    ReplyDelete
  53. 2/
    As he was approaching 3 years old, I was pregnant again and still breastfeeding 2 toddlers now so I really tried to get him to eat more and more food and breastfeed less and less. By then he had started listening to us and also showing us his needs by taking our hands and leading us. He did not throw things much anymore but settled on finding small objects and dropping them in a pile repeatedly. I was able to totally wean him a month before he turned 3. But then was the second main regression. He lost all his speech and became very whiny. The meltdowns increased greatly. He would have episodes for days and hit his head. I started a few supplements that I had researched on my own (B vitamins, DMG, and methylene blue), and he started to be calmer and started saying some words again. I also did another zeolite called PBX, and Aspire probiotic, and a few other things I can't remember. That was last summer, and he did pretty well, slowly starting to use words functionally, but still not saying as many phrases or singing as much as he had before. He still loved to pick up and drop little objects in piles. But he was aggressive towards his sister and pulled her hair, otherwise ignoring her.

    He had another minor regression (it's hard to call it minor because of how terrible it was, but I think he was so much in flux over those couple months that I can't really say he lost anything) in September after he got sick with some vomiting. After being sick his behavior became very manic, he started destroying everything and laughing like crazy. At that point he wasn't really talking again. The next week, he was screaming and hitting his head so much we took him to the ER to make sure he didn't break anything. That turned out to have been constipation, and he was instantly better after an enema. But he was still in the mood to destroy everything and it was driving me insane. I accidentally locked myself in a bedroom that locked from the outside when I was trying to take a little break from his insanity, and then he proceeded to rip out nearly all of his sister's hair. Thankfully I had my phone and called my husband, who sent my friend over to unlock it. But after that, more destruction... And I had enough and called my mom to let me come out early for the holidays because I couldn't take it anymore. My husband was missing a lot of classes (he's in grad school) and he really couldn't be there all the time. We found a DAN doctor and we are currently still seeing her. She got us started on different supplements and a gluten free casein free diet. Eventually with the new supplements and diet he was getting less destructive and less violent toward his sister, more eye contact and affection, sometimes words, and back to playing with things in little piles. But he had what turned out to be an ear infection on both ears and he screamed and cried for a total of two weeks about that. That was hell. Once the antibiotics finally worked (it took two rounds) he was great, but putting his hands in his mouth a lot. Then he got canker sores which made him whiny for a week, but at least not screaming as crazily as before.

    ReplyDelete
  54. 3/
    LONG STORY! Currently he is on a ton of supplements. Pure Encapsulations O.N.E. multivitamin, digestive enzymes, acetyl-L-carnitine, tegricel colostrum, an extra B-complex, extra methylfolate (I added this on my own after reading about cerebral folate deficiency on TACA), GI Revive, Therbiotic, liposomal glutathione, MCT oil (just switched today to Candidex, those were a protocol), Speak fish oil with the vitamin E and K, methylene blue (I just recently added this back myself as I think it can't hurt, and is supposed to help mitochondria), melatonin at night (also my addition). It's so much. I kind of want to add ubiquinol but it's already so much and we've spent thousands. He was recently diagnosed with level 3 autism after trying and being given the run around for months with insurance and referrals since last March. He now has plenty of eye contact and affection, is no longer aggressive to his sister, is trying to say words more frequently and occasionally saying phrases and rarely singing a song, eats food but needs help with drinking from a cup and can't use utensils, still has and has always had low muscle tone and poor fine motor, wears diapers, obsessed with playing with little piles of objects, occasional arm flapping and jumping up and down but usually more when he seems anxious, sleeps well 95% of the time, leads us by hand to show us what he wants, is generally happy unless he has some ailment in which case it's either a serious meltdown with arm biting and head banging, or a more minor whininess. He's far better than he was a couple months ago, but verbally still not where he was before he was weaned from breastfeeding, but in other ways better than he was back then, even verbally (like it now sometimes being functional whereas back then it wasn't). He still gets rashes and the one thing we have left to do with our DAN doctor is the blood test where we find out his allergies. I read on this site that having an allergic reaction will reduce the effectiveness of supplements, so I am eager to figure that out and see if he improves even more. When he was sick with the ear infection I gave him lots of ibuprofen and benadryl or zyrtec which I guess was somewhat helpful (but it would wear off before we could give another dose). He still isn't in ABA because again the run around with insurance and referrals and wait lists. But we are on track to getting it and closer than ever before.

    I had tried NAC on my own back before we went to the doctor and he seemed to do well on it, but it did smell like sulfur, does that mean it went bad? Also the doctor had me stop the NAC because supposedly it can worsen yeast, and has him on the liposomal glutathione instead.

    All in all, I don't know for sure whether his autism is regressive or not. He did have some regressions but not like one major one besides when he was literally starving which would make anyone regress especially a baby. He did have the oddities before then, like not wanting to eat and obsessing over my fallen out hairs or carrying around a toy block.

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    Replies
    1. Autism is often full of ups and downs. I do not think your son has regressive autism.

      There are literally hundreds of possibly beneficial therapies. It is not a simple matter to find what will be effective in a particular person. As the child gets older new issues may arise and new therapies may then be needed.

      It would be great if there was a one-stop-shop where you can find all the answers. There is not. Most practitioners have their own pet therapies and many people end up seeing very many different ones as their child grows into an adult. Some see dramatic improvement and some see none, most are somewhere in between.

      The sooner you find effective therapies, the better the outcome will be. Level 3 autism is likely to need treatment by drugs, rather than OTC supplements. The trouble is how to find which ones.

      Some people do get lucky and find genuinely effective therapies.

      Delete

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