Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

Logo for mitochondrial DNA


Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by impaired social interaction and communication, as well as isolated interests and repetitive or stereotyped behaviors [1]. ASDs pose a significant burden to affected individuals, their families and society. This burden comes both from the debilitating and lifelong nature of ASDs and from their prevalence. It is now estimated that about one out of every 166 children is affected with ASD [2]. Most cases are idiopathic, although there are many uncommon or rare genetic and metabolic causes of autism that are increasingly recognized [3]–[5].

In 1998, Lombard postulated mitochondrial dysfunction as a cause of autism [6]. Prior and subsequent case reports provided biochemical data indicating perturbation of mitochondrial energy metabolism in some individuals with ASD [7]–[12], including mtDNA mutations in several [10], [13], [14]. Recently, Oliveira and colleagues published a population-based survey of school-age children with ASD. They found that 7% of those who were fully tested met criteria for definite mitochondrial respiratory chain disorders and were also clinically indistinguishable from other children with ASD [15]. This work is notable because it suggests that mitochondrial disorders of energy production may be present in a substantial percentage of children with ASD. To better describe the clinical spectrum of children with ‘mitochondrial autism’, we undertook a chart review of the biochemical, genetic, and histopathological findings in 25 patients with ASD who had unequivocal evidence of a disorder of oxidative phosphorylation.

via PLoS ONE: Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis.

How To Find a Thyroid Doctor

Sometimes it can be difficult to find a doctor knowledgeable in treating children with sub-clinical thyroid disorder.

I generally skip most endocrinologist as they stick pretty closely to text book synthroid.

Naturapathic Doctors and Chiropractors can Rx natural thyroid in some states, However in most they cannot get you the med you need.

After spending money on way to many intake appointments I got smart.  I called the local compounding pharmacies and asked if they ever fill scripts for Armour.  Then asked for referrals.  It can sometimes be necessary to travel a ways to find a doctor (I know parents who have driven 2 hours one way to obtain their thyroid medication).

I have successfully found thyroid doctor for several parents I have consulted with from all over the country.  Remember that often you only need to visit these doctors once per year to maintain your script.

When calling I ask the following questions:

1.  Does the doctor ever prescribe natural thyroid?
2.  Does the doctor consider both test results and symptoms when determining whether or not to treat the thyroid?
3.  Does the doctor feel comfortable treating cases of sub-clinical thyroid in children?

Often the person on the other end will either know right away that the doctor can do this, or they will take your number and call you back.

Once you find a doctor be sure to bring with you a list of your child’s thyroid symptoms and basal temps to your first appointment.

Adrenal Fatigue: Something was very wrong.

When we started AC chelation our dose was a bit too high.  Remnants of our old DAN!s protocol still lingered in my mind. I mean 1/2 mg per pound for three days is pretty close to 10 mg per pound every third day.  So we started at just under 25 mg per dose of ALA and DMSA together.

The changes we were seeing were amazing.  In only three rounds he had increased conversational language, he was more social, more tuned in.  He was listening.

This child who wouldn’t respond until you had called his name 15 times…. this child who was content just to stimm all day on the computer (unless he was running off or tantrumming of course)…. this child who scripted all day and all night without meaning to his words… this child was in the living room minding his own business and his mother and father were talking among themselves at the kitchen table.

We were having a normal conversation in average tones, and we were talking about him.  I do not recall which of us used his name, but he heard it and from the other room he yelled, “Coming!”  Only to appear in the doorway a moment later and say, “you called me?”

It was incredible.  We were doing something soooo right.  Amazing.

On the other hand, something we were doing was sooo wrong….

He was whiny, clingy (this from a child who never wanted to be held), sad…..  He cried so easily, and the mood swings were drastic.  On minute he was fine and the next was a complete meltdown over some tiny thing like dropping his toy.

We also had a return of a very old behavior.  When he was younger he used to crawl along the floor with his head on the carpet sliding it along the ground.  It was a very odd behavior that we were happy to see go away and very unhappy to see return.  He was also turning upside down a lot.  He did hand stands on the wall, on the couch, in the chair.  This wasn’t completely abnormal for him as it was part of his trouble with vestibular sensory processing issues, but it had increased substantially.

I was on a mission to figure out how to keep our wonderful gains, but get rid of these awful side effects.

It was suggested that some of the behaviors we were seeing were headaches do to dosing to high.  We lowered the dose down to 1/4 mg per pound and the crawling along on his head and increased headstands stopped.  Yeah!  one piece solved.

A parent in one of the groups I was part of mentioned Adrenal fatigue, so it was back to the books.

That is when we discovered ACE.

Adrenal cortex was our happy pill.

I began by giving ACE in the morning, starting slowly and increasing by 1/2 cap at a time.  We decided to follow Andy’s timing recommendations for Hydrocortisone.  (between 7-8 in the am, around noon, and between 5-6 in the pm).  This worked like a dream.

All his increased whiny, fearful meltdown behavior stopped (we still had meltdowns, but they were back to the regular kind we had grown accustomed to).

The something very wrong was solved.  Of course he had adrenal fatigue even before we were chelating we just didn’t know it.  So we got bonus result from this wonderful little supplement.

My son never slept.  We struggled with it for years.  It didn’t matter what time I laid him down, he was up until at least midnight, sometimes 1 am.  Then he would wake up again at 3am or 4am.  He would be wide awake, ready for the day, full of vim and vinegar.  uggg.

Of course he was down for a nap around 8am but by then it was too late for me.  I was chronically sleep deprived.  All we ever heard about was melatonin.  I would dose it before bed, and then often again in the night.  It would work for a week or two, then it would start to make sleep worse and we would stop using it.  A couple of weeks later we could bring it back again.  It was a never-ending cycle we had gone through for years.

But when we started the ACE the most marvelous thing happened.  He slept through the night.  It was still a struggle to get him to fall asleep, but there were no more night wakings.  This was one of the biggest gifts I could get.  Better than winning the lottery any day.

Die Off?

A simple, diagram labelled in English showing ...

A simple, diagram showing a yeast cell. (Photo credit: Wikipedia)

How long (typically)does it take for natural antifungals (such as GSE) to begin working?

If you are using a high enough dose you should see some response right away. Often in hours. the difficulty in the beginning is knowing to right dose.

You have to take it slowly at first then I ramp up quickly. I hate to cause them unnecessary discomfort, but I also don’t want to go so slow that it takes weeks to get a handle on things.

It really should take but a few days to get a decent control over yeast once you find the right dose. It could take as much as a couple of weeks but there is absolutely no reason for it to take longer than that.

Initially you can get some gas and bloating, I would increase a bit if these were the only symptoms. If you see mushy stools or rash, other definite die off symptoms then you are probably good to hold at that dose.

Yeast isn’t something you treat once then move on.  While Chelating we have to find a maintenance dose to keep it at bay until we have removed enough metals through chelating that the body can control it.  After a very long and arduous battle with yeast we are finally yeast free after 100+ rounds of chelation.

(A post I wrote in 2010 about our past experiences with die off.)

Die off isn’t something to be afraid of, just prepared for. LOL I don’t say this lightly.

I still remember the first time I treated yeast in my kiddo,  I used OLE and GSE and just a few drops of each, he got sick (of course it was the very first time we ever dealt with his yeast and he was full of the stuff). After day three he got sick and I was at home in the middle of the night with a puking, diarrhea having, screaming inconsolable baby with a hurting belly. Biomed was new to me and I was still nervous and I was afraid I had poisoned my baby. I was considering taking him to the emergency room and then I was afraid someone would turn me in for child abuse, it was very frightening. I actually called a mother from one of my yahoo groups at 4:00am (which is unlike me).

I only mention this story because I want you to know that I understand being hesitant and nervous about yeast. The thing you have to realize is that your child will be so much happier when all those toxins aren’t harming his system on a daily basis. Anti-fungals don’t cause any reaction if there is no yeast issue. If there is a yeast problem you need to get it under control for the comfort of your kid.

I would definitely start to control yeast before a round of chelation as moving metals grows yeast. Yeast/die off isn’t to be feared it is to be conquered, lol.

I think most cases of months of die off are either, not really die off or not an aggressive enough approach.

Does My Child Have Adrenal Fatigue?

How can you know if your child has adrenal fatigue?

The following is a list of  symptoms:

  • Irritability, meltdowns, whining
    anxiety, fear, attachment
    early morning wakings especially between 2am-4am (tendency to be wide awake even with little sleep)
    inability to fall asleep at night (night owls)
    morning fatigue
    frequent illness or inability to recovery in a reasonable time from illness
    sensitivity to light/sound/touch
    hypersensitive to pain
    dizziness upon standing quickly
    morning nausea or no appetite
    craving salt
    low endurance compared to peers
    constant thirst
    explosive outbursts or overreaction to situations.

There are a few methods of determining adrenal function that can be performed quite easily. The adrenal glands are responsible for regulating body temperature, so recording average daily temperatures provides an indication of how well the adrenals are functioning.

How to chart temperatures:
Temperatures should be taken orally or underarm using a glass thermometer for 7-10 minutes. Avoid using digital thermometers as they are inaccurate.

Do this for 5-7 consecutive days.

Take the temperatures three times a day. For example: 9am, 12pm, 3pm. Keep the times consistent from day to day.

Avoid taking it three hours after waking,
30 minutes after a meal or exercise.
Find the average daily temperatures by adding the three of them together and dividing by three.

Normal average body temperatures should not fluctuate by more than 0.2 degrees up or down from day to day.  If you see a fluctuating pattern this indicates poor adrenal function.