By Nancy O’Hara, MD and Gail Szakacs, MD
What is autism? Is it a developmental disorder characterized by problems with social interactions, communication, and repetitive and restrictive behaviors? Yes, but that is a label, not a true understanding. Is it a brain disorder that is only genetically determined and untreatable? No, it is a genetically-influenced, environmentally-triggered disease of the brain and body that involves several vicious cycles and is treatable.
Autism spectrum disorders affect approximately one in every 91 children in the United States and one in 57 boys. It is more common than Down syndrome, spina bifida, childhood cancer, and cystic fibrosis combined. One in 6 children now has a developmental or behavioral disorder.
Each of our children is a tremendous gift. For our children in the autism spectrum, this gift is wrapped in many layers of wrapping paper. It is our job to begin to unwrap each layer to let the true gifts of our children shine through. These layers of wrapping paper, the vicious cycles, represent problems in the gut with digestion, absorption, nutritional defects and dysbiosis (more abnormal germs then good germs); problems in the immune system with allergies, inflammation, frequent infections, and autoimmune disorders; problems in the detoxification system with an inability to remove germs, allergens, chemicals, and metals from their systems, and resultant oxidative stress and mitochondrial dysfunction.
All of our children live in a toxic world. Because of problems with glutathione metabolism (the methylation and sulfation biochemistry and their ability to detoxify), our children are much more sensitive to the toxins that each of us are exposed to on a daily basis. It is as if these children are our canaries. Where I grew up in West Virginia, they used to send canaries into the coal mines. If the canaries died, that meant the mine was too toxic for the miners. Because of their decreased ability or inability to detoxify, children with autism are our canaries. We need to help our children remove these germs, allergens, and toxins from their system in order to reach their full potential.
Let’s look at each of the medical problems that our children may be facing. There have been four major changes over the last few decades that I believe have led to the proliferation of autism. For our children, there is a genetic susceptibility, then repeated toxin exposures (as a fetus, exposures to maternal toxins, amalgams, fish consumption, and vaccinations; and as an infant and child, exposures to antibiotics, vaccinations, and toxins in our environment and foods). There is nutritional deterioration, a dependence upon nonorganic, processed, and refined foods. There is an increase in the number of vaccinations from 3 to > 34 during infancy and early childhood. Finally, and most importantly for our children, there is an increased susceptibility to all of these toxins because of a decrease in their ability to detoxify due to metabolic dysfunction, including increased oxidative stress and glutathione depletion as well as mitochondrial dysfunction. There are multiple clinical signs that indicate that these children have increased susceptibility in infancy and early childhood.
So where do we begin? With each child, look at what he or she may need to get or get rid of to reach his or her fullest potential. He or she may need to get more nutrients, enzymes, or antioxidants like vitamins A, C, D, and E and glutathione. He or she may need to get rid of germs such as yeast or viruses, allergens such as gluten or phenolic foods, or metals such as lead or mercury. This can be a daunting process, but begin by building the foundation, and build one step at a time. Let’s start with the gut.
As Emerson has said, “What lies behind us and what lies before us are small matters compared to what lies within us.” He could have been referring to the gut. Whenever we begin a discussion about the treatment of autism, we need to start with the gut. Many of our children have problems with gut inflammation (a red, irritated, and inflamed gut lining), with dysbiosis (too many bad germs as compared to good germs) and abnormal permeability (because of the germs and the inflammation, molecules or allergens that are not supposed to be absorbed outside the gut are and cause allergies and sensitivities).
What are some of the clues that my child may have gut problems?
- Difficulty breastfeeding
- Persistent colic
- Gastroesophageal reflux
- Food sensitivities
- Failure to thrive
- Wasted buttocks
- History of frequent antibiotics
- Abnormal posturing
- Hands in pants/probing/anal itching
- Self-injurious behavior
- Unexplained tantrums/crying
- Irritability (especially prior to bowel movements)
- Poor sleep
As Dr. Michael Gershon points out in his book The Second Brain, everything that fuels and feeds our brain goes through our gut. When we talk about neurologic problems, such as autism, we must first start in the gut. So, what does cleaning up the gut mean? First, it means treating constipation. We cannot appropriately absorb and use nutrients or eliminate toxins unless we are having regular and daily bowel movements. Constipation is an obstacle to all further treatment options. So, first reestablish a rhythmic and repaired bowel pattern and then look at the underlying causes such as voluntary withholding, colon laxity or spasms, or abnormal flora (germs).
Guide to treating constipation
(in order of success):
- Fluids, prunes
- Magnesium citrate
- Vitamin C
- Oils (olive, mineral, caster)
- Probiotics (beneficial germs)
- Antimicrobial/antifungal remedies
- Prescription medications
The next step in treating the gut is changing the child’s diet. There is no such thing as junk food; it is either junk or food. Having a diet that is as free of processed foods, preservatives, added sugars, additives, and fillers is essential. Avoid excitotoxins (e.g., caffeine, MSG, and dyes), avoid phenolic foods if your child seems sensitive (e.g., grapes and strawberries), and avoid allergenic foods (kids crave that which they are sensitive to). Eat organically as much as possible (especially chicken, pears, apples, peppers, celery, strawberries, cherries, grapes, spinach, lettuce and potatoes).
It may also be important to remove those foods that are hardest to digest, like milk, gluten, and complex carbohydrates (starches). If the gut is inflamed, has too many bad germs (dysbiosis), or does not have the right enzymes to process foods, then it will not absorb and digest foods appropriately. Think of a food like milk as a long paper clip chain. If the gut is working well, then the paper clip chain is broken down into two little paper clips (called amino acids) and this is absorbed, seen by the body as milk, and used as fuel appropriately for the brain. If the enzymes are not adequately present, the gut is inflamed, or there are too many dysbiotic germs, then the long paper clip chain is only broken down to a shorter chain. This chain (called a peptide) is seen by the body as an allergen, something foreign, is not used effectively by the body, and can mimic other opiate-like molecules leading to symptoms of brain fog, poor cognition, and abnormal behaviors like hyperactivity and rigidity. All of this happens because the body cannot effectively break down certain foods and use them as fuel.
If the above measures, including removal of allergenic foods as well as casein (100% for at least 3 weeks) and gluten (100% for at least 3 months), does not help alleviate behavioral symptoms or heal the gut, then consider other healing diets such as GAPS (Gut and Psychology Syndrome by Dr. Natasha Campbell-McBride), BED (Body Ecology Diet by Donna Gates), or SCD (Specific Carbohydrate Diet™ by Elaine Gottschall). These diets, SCD for instance, are meant to stop the cycle of malabsorption and dysbiosis by removing the microbes’ food. Disaccharides (complex sugars) are harder to digest, not immediately absorbed and, therefore, left in the damaged gut to feed the bad germs (yeast, Clostridia, and parasites). SCD depends on only simple sugars in fruits, vegetables, and honey as well as meats and other proteins to heal the gut and eventually allow proper digestion.
In addition to gut problems, our children may also have signs of immune system irregularities, such as a family history of autoimmune disease (thyroiditis, diabetes, inflammatory bowel disease); chronic ear, sinus, and throat infections; and food and environmental allergies and sensitivities. They may also have evidence of seasonal worsening of behavioral symptoms and/or cognitive improvement with fevers. These are all signs of immune dysregulation.
Clues of immune dysregulation:
- Allergic shiners
- Allergic rhinitis
- Chronic mouth breathing
- Sleep apnea
- Molluscum contagiosum
- Thrush/fungal skin infections
If your child has evidence of immune dysregulation, the first step is still to heal the gut. Other options to consider may then be anti-inflammatories (a child whose tantrums subside with ibuprofen is a good candidate for further investigation and treatment of the immune system) and other immune modulators (e.g., TSO, gamma globulins, PPAR agonists, pycnogenol, curcumin, essential fatty acids, quercetin, and stinging nettles, to name a few).
In addition to gut and immune problems, our children may also have metabolic problems. Metabolic problems are defects in the biochemical pathways of our body that cause stress. For example, as the research of Dr. S. Jill James has shown, we know that the chemistry of methylation (the process of taking food – methionine – and turning it into homocysteine and then ultimately to glutathione) is damaged in our children. One site of injury in this pathway is methionine synthase (MS) which recycles homocysteine back to methionine and is prone to damage by mercury and other heavy metals. As a result of this injury, methionine supplies run short. As a further consequence, there is a shortage of glutathione (the sticky sulfury molecule that is our body’s chief detoxifying molecule and a major antioxidant). A shortage of glutathione results in an unhappy milieu in the body, in more oxidative stress. This is where folinic acid, methyl B-12, and other methyl donors (such as betaine a/k/a TMG or trimethylglycine) are needed to treat underlying problems. Antioxidants such as vitamins A, C, D, E and especially glutathione are essential in decreasing the stress.
When there is oxidative stress, there is increased susceptibility to toxins, chemicals, heavy metals, and pesticides, increased susceptibility to allergies and infections, and decreased production of glutathione and impaired efflux of toxins. What all this leads to is mitochondrial dysfunction. The mitochondria are the energy cells of our bodies and are central to all processes, neurologic and otherwise. Mitochondrial function is affected by heavy metals (mercury, arsenic, lead, cadmium, aluminum), pesticides, diesel exhaust, PCBs, germs and infection, poor nutrition, and oxidative stress/low glutathione.
Clues of mitochondrial
- Low muscle tone – weak suck, drooling, poor head control
- Movement disorders – posturing, writhing, jerking
- Seizures (acute, recurrent, hypoglycemic)
- Hypermobile/hyperflexible joints
- Decreased activity tolerance
- Curved back when sitting
- Difficulty knowing self in space
- Gross and fine motor delays
- Poor eye-hand coordination
- Speech (expressive and receptive) delays
- GI dysmotility, constipation, reflux
- Abnormal sweating
Neurologic symptoms of mitochondrial dysfunction may be fixed or increased during stress (e.g., fasting, infections, exercise). Symptoms may be due to disturbed fat and carbohydrate metabolism (as with gut malabsorption and dysbiosis), hypoglycemia (the brain depends on a continual supply of sugar/glucose for fuel), and free radical production (as in oxidative stress).
Although it was originally thought that only a small percentage of children with autism had mitochondrial dysfunction, recent studies indicate that the numbers may exceed 40-50% of our children. One study by Shoffner indicated that 78% of children with ASD had defects of oxidative phosphorylation, one type of mitochondrial dysfunction.
Therefore, if, in addition to GI and immunologic dysfunction, you suspect mitochondrial dysfunction, the following labs and interventions should be considered:
Labs – Mitochondrial
Isolated elevation of AST or ALT
Lactate, pyruvate (serum, CSF)
Amino acids (elevated alanine:lysine ratio> 2.5)
Organic acids (elevated fatty acids metabolites)
Carnitine, free and total
Skin biopsy (fibroblasts – 50% inaccurate)
Muscle biopsy (histiopath, EM, mtDNSA, OXPHOS)
- Antioxidants (vitamins A, C, D, E, and GSH)
- B-6 and magnesium
- Other B vitamins (B-12, folinic acid, thiamin)
What can I do to help my child
1. Heal the gut – treat constipation, dysbiosis, inflammation
2. Avoid what harms – additives, toxins, allergens
3. Give what heals – nutrients, probiotics, essential fatty acids (EFAs)
4. Fix metabolic and mitochondrial issues – methyl B-12, folinic acid, B-6, magnesium, reduced glutathione (GSH), antioxidants, anti-inflammatories.
Autism is a label. Your child is not a label but a person suffering from medical problems that need to be discovered, addressed, and treated. Find these clues in your child, and find clusters of other children and families that help you embark on your journey. Find a practitioner to discuss all of the signs, tests, and interventions for your child. Trust your gut and your child’s! Good luck in your journey toward health and recovery in your child!
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