One easy test that helped guide my daughter’s autism treatments

Let’s talk about the mitochondria.

Why? Because mitochondria are central to the autism conversation.

Despite the genetics and metabolics department at a prominent hospital telling us that our daughter had no mitochondrial issues according to her blood work, our Medical Academy of Special Needs (MAPS) doctor wanted her to trial mitochondrial support supplements.

Incredibly, she responded very well and the difference in her energy and focus was as evident as night and day!

I knew then that we needed more information.

The Basics

The mitochondria is found in almost all of the body’s cells, with some cells having many more mitochondria than others, depending on its function. The mitochondria’s main job is to produce energy, or “ATP”. They are the powerhouse of the cell. They take in nutrients, break them down, and create energy rich molecules for the cell.

This is critically important because we need energy for nearly everything from respiration to gastrointestinal function to immune function and cognition. Everything depends on energy!

Why is this important to autism?

Many recent studies have shown that depleted mitochondrial function is prevalent in kids with autism. Here’s a list of just some of them:

Mitochondrial Dysfunction vs. Mitochondrial Disease

Mitochondrial Disease is severe and is what geneticists can locate on bloodwork and further investigate with a muscle biopsy. However, there does not necessarily need to be primary mitochondrial disease for problems to occur. There can be a secondary mitochondrial disorder, what we refer to as mitochondrial dysfunction, causing issues. Often, children with autism have mito dysfunction.

In Autism, studies have shown that Complex 1 and Complex 4 in the mitochondria are most likely to be affected. Because of this, we tend to see problems when the mitochondria are stressed; when the child’s reserves are used up.

What does mitochondrial dysfunction look like in children?

Easily fatigued
Slow processing speed
Trouble gaining weight
Struggles with constipation or other GI issues
Problems with fine and gross motor skills

Among many other signs, since the mitochondria affect numerous body systems.

How are kids with autism acquiring mitochondrial dysfunction?

It is estimated at 20% of mitochondrial dysfunction is genetic and always inherited from the mother. The mitochondria have their own DNA, called mDNA, and that mDNA can be altered in both the mother and child.

However, there are other ways in which this mitochondrial dysfunction happens, some of which are listed here:

Affected Genes in the nuclear DNA
Environmental Triggers (they are numerous)
Gut dysbiosis (meaning an imbalance between good and bad gut flora)
Chronic Inflammation
Ongoing Infection
Medications
Other diseases or disorders
Heavy metal toxicity

Enter the Mito Swab

Let me start by saying I am completely unaffiliated with the lab that runs this test. This article is simply our personal experience and the results discussed with our physician.

The “gold standard” to determine mitochondrial problems is a muscle biopsy, however it is invasive and requires sedation.

The Mito Swab is a buccal (cheek) swab and is the next best option. It’s easy and for $250, not terribly expensive. It is approximately 85% as accurate as a muscle biopsy, which is quite good.

The test measures the function of Complex 1, Complex 4 and uses Citrate Synthase as a control. These complexes are parts of the electron transport chain, which is the final step for making energy. With this test, we can see exactly how the mitochondria are functioning.

*Note: We’ve learned that Mitoswab recently raised the price of the test to $300, but if you contact them, they will honor $250 for readers of this post.

How it Works
For approximately 2 days, you take your child off supplements. (We removed all supplements, not just mitochondrial supplements.) Then, you swab their cheeks and send in the samples. The test is ordered by a physician and results are sent to your physician. For more information you can visit the MitoSwab website or the MitoSwab Facebook Page.

My daughter’s results were as follows:

Her Complex 1 is functioning at 38% (out of 100%)
Her Complex 4 is functioning at 55% (out of 100%)
Her Citrate Synthase is functioning at 237% (out of 100%)

Citrate Synthase is a Kreb cycle enzyme that reflects how many mitochondria you have compared to the average person. In our case, my daughter is making 2.37x more mitochondria than the average person. The important question is, WHY?

She’s making more mitochondria to compensate for her Complex 1 and Complex 4 under-performing. The body does this as a compensatory function. If you multiply 2.37 (her citrate synthase) by 38% (her Complex 1 function), you get 90% function. That is why she is functioning well most of the time.

The problem is that there are only so many more mitochondria the body can make to compensate for under-performing Complex 1 & 4. In our case, my daughter has probably used up almost all that capacity. Once a stressor such as illness or toxin exposure occurs, she will crash.

And not all ASD kids have the ability to make more mitochondria. I’m glad my child does.

It’s important to note that hyperbaric oxygen therapy (HBOT) also stresses the mitochondria, causing the body to make more mitochondria. For most kids, this is a good thing. It is likened to exercising and building muscle. However, as mentioned above, there are a small percentage of ASD kids that cannot make more mitochondria and they struggle with HBOT.

When the mitochondria are functioning at less than 30%, then the child would be classified as having a mitochondrial disorder or disease instead of dysfunction.

How will I use these results?

I will increase her mitochondrial supplements and likely add in ALA.
I know that I cannot remove her mitochondrial supports to take a “break”.
I will continue to look for toxins in her environment that may be stressing her mitochondria, including mold and pesticides.
I will look for underlying infections and inflammation.
I need to increase mitochondrial supports during illness.
We are running another Great Plains Organic Acids Test (OAT) to check gut bacteria.
I can opt to do the full exome genome sequencing to see if her issues are genetic in nature. This is a very expensive test done though a geneticist and should be approved by insurance first. (My other children fatigue easily as well, but they also share the same environment.)
I know that using anesthesia can be detrimental and cause regression if not sedated using a mito protocol.

Mitochondrial Supplements

This study has a table that shows the mitochondrial supplements used in kids with autism with doses by weight. Dosing correctly is extremely important because if you don’t give enough, you won’t see a difference.

My favorites for my daughter are:

L-Carnitine (we use prescription LevoCarnitine)
B complex with bioavailable forms of B vitamins, including 5MTHF and Methyl B12.
Ubiquinol because it is so very important to the electron transport chain that connects the complexes.

The wildcard supplements for kids with autism are ALA (Alpha Lipoic Acid) and NAC (N-Acetyl Cysteine). ALA is a potent mitochondrial support. Some kids respond very well to high mitochondrial doses and others don’t. This can be for a variety of reasons. Two potential issues are that it is high sulfur and can move metals.

When my daughter was younger, we did a summer of ALA with miraculous results. We used biotin to control yeast overgrowth. NAC is also high sulfur and can be life changing for many but others don’t do well with it.

A ketogenic diet can be beneficial for some kids with mitochondrial dysfunction as long as you have lots of L-Carnitine and CoQ10 on board to help break down the fat and use it for energy.

Children with autism that have Complex 4 abnormalities may benefit from Butyrate, a small chain fatty acid that is used to help seal leaky gut and is also excellent food for the colon.

The bottom line

There is nothing that stresses the reality of a situation like seeing the numbers in black and white. I’m glad we performed the MitoSwab test and was impressed that such an easy to use, convenient cheek swab offered us such essential information for very little effort. It is helping us much more effectively guide treatments for our daughter and may help your children too.