Introduction: Biomedical treatment for autism: Autism is a very complex Neurodevelopmental disorder that affects a child’s social and communication skills. The incidence of autism is rising worldwide and what was 1 in 1,000 a decade ago is now 1 in 68 according to the CDC (Central Disease Control USA) . Genetic problems cannot account for this more than 600% rise. The concept of autism being epigenetic is gaining ground.
This means a genetic vulnerability in an individual that interacts with environmental factors can result in such conditions. Over the last 15 years intensive research has been done to look for environmental causes of autism.
Many biomedical abnormalities have been identified in autism and according to a paper published in 2012 by Rossignol et al found that anywhere from 85% to 100% of these children have signs of immune problems, oxidative stress, mitochondrial problems and environmental toxins.
Thus although autism spectrum conditions (ASCs) are defined behaviorally, they also involve multileveled disturbances of underlying biology. This has given rise to the field of biomedical treatments given to children and adults with autism.
Sometimes one treatment shows great benefit, but it is more common that each treatment helps a small amount. However, the cumulative effect of multiple treatments can be substantial.
Younger children are the ones most likely to benefit, especially those who had a period of normal development followed by regression, but older children and adults can often benefit as well.
Biomedical treatments will not help every child, but they have helped thousands of children improve, sometimes dramatically. Biomedical therapy may help improve the efficacy of other interventions, by improving brain and body health and making it easier for the child to learn.
This summary includes the following sections:
The underlying biomedical defects seen in autism
The environmental factors and how they may impair the child
Different Biomedical treatments
Underlying Biomedical Defects:
Research has shown us that many of these children have
Poor detoxifying capacity- these children have defective methylation cycles. The cycle is a complex reaction that takes place in every cell and is an important process for adequate cell functioning. There are two parts to the cycle. First the transfer of methyl groups that help in turning genes on and off, development of neurotransmitters, building flexible cell membranes etc. Second is the transsulfuration pathway of the cycle. This produces Glutathione which is a very important antioxidant and detoxifying agent. It helps rid the body of toxins, prevents oxidation (rusting) of cells, helps produce energy from mitochondria and helps in immune function and breakdown of neurotransmitters. This very important cycle needs Vitamin B6, B12, Folate and others for proper functioning.
Impact of inflammation: Studies indicate an impact of inflammation on the cause and course of autism. Inflammation is the body’s way of fighting an attack. Ideally, when a “foreign” substance—a toxin, bacteria, or a virus—enters the body, a cascade of inflammatory chemicals and processes occur to fight off the invader. When the battle is over, an anti-inflammatory process begins and calms the body down again. In some people, this process of ramping up and cooling down does not go smoothly. Those people can become stuck in a constant state of inflammation that can damage the body. Offspring of mothers with inflammatory diseases like rheumatoid arthritis have a greater chance of autism. Similarly, ongoing inflammation can continue to damage the brains of children with autism and increase risk of seizures.
Mitochondrial dysfunction: Mitochondria are tiny parts of almost every cell in your body. Mitochondria are like the powerhouse of the cells. They turn sugar and oxygen into energy that the cells need to work. In mitochondrial diseases, the mitochondria cannot efficiently turn sugar and oxygen into energy, so the cells do not work correctly. It appears that 5 to 20 percent of children with autism have mitochondrial dysfunction as the underlying cause of their symptoms. Children diagnosed with autism and have underlying mitochondrial dysfunction experience regression following a simple childhood illness (ear infection, common cold, etc.) or other cause of fever or inflammation. Regression refers to a loss of developmental skills such as language or motor abilities. It may be accompanied by other symptoms of mitochondrial disorder such as fatigue, gastrointestinal distress, seizures and/or motor delays.
Leaky gut: Altered intestinal permeability was found in 43% of autistic patients, but not found in any of the controls (Harvard University). This is commonly referred to as "leaky gut". It means that there are larger than normal spaces present between the cells of the gut wall. These allow undigested food and other toxins to enter the bloodstream. When incompletely broken down foods enter the body, the immune system mounts an attack against the "foreigner" resulting in food allergies and sensitivities. The release of antibodies triggers inflammatory reactions when these foods are eaten again. The chronic inflammation lowers IgA levels. Sufficient levels of IgA are needed to protect the intestinal tract from clostridia and yeast. The decreasing IgA levels allow for even further microbe proliferation in the intestinal tract. Vitamin and mineral deficiencies and abnormal or low normal gut flora as well as fungal infections can cause the leaky gut problem.
Metabolic problems: Metabolic conditions such as mitochondrial disease and dysfunction and abnormalities in cerebral folate metabolism may affect a substantial number of children with ASD, while other metabolic conditions that have been associated with ASD such as disorders of creatine, cholesterol, pyridoxine, biotin, carnitine, γ-aminobutyric acid, purine, pyrimidine, and amino acid metabolism and urea cycle disorders have also been associated with ASD without the prevalence clearly known. Interestingly, all of these metabolic conditions have been associated with epilepsy in children with ASD. The identification and treatment of these disorders could improve the underlying metabolic derangements and potentially improve behavior and seizure frequency and/or severity in these individuals.
Immune Dysregulation: Some children in autism have immune dysregulation that causes recurrent infections, chronic inflammation and autoimmune reactions. There are skewed immunoglobulin patterns with raised IGE and IGG4 and IGG2 with reduced IGA, IGM and other IGGs. There is also an imbalance between antibody mediated response (Th2), which is increased and cellular mediated response (Th1), which is reduced. This results in less protection against germs and increased allergies and autoimmune reactions.
2. Environmental Factors that interact with the underlying defects
EMF- Electromagnetic Fields from electronic gadgets like mobile phones and television.
Diet: Genes use food to repair and develop the cells and tissues. Vitamins and Minerals form important coenzymes for crucial reactions in the body. Children with autism have very poor eating patterns because of poor appetite, food fetish, sensory issues, reduced or faulty absorption and eating contaminated foods. Various nutritional deficiencies can cause effects like zinc deficiency that can cause poor appetite and eczema, iron deficiency that can cause restlessness and inattention.
Food allergies can cause leaky gut. Casein and Gluten are long peptides that are not completely digested and thus form opiate like substances that fogs the brain
Toxins: Many children with autism have challenged detoxification capacity. Thus heavy metals like mercury (found in dental fillings and seafood), plastics containing BPA and many environmental toxins are harmful and propagate the disease.
Oxidative Stress: Oxygen is essential to life but produces harmful byproducts as it works in the body. These are free radicals called Reactive Oxygen Species or ROS which can damage the cells and are normally removed by antioxidants. Oxidative stress is caused by factors like air pollution, radiation, UV light, inflammation etc. With reduced formation of Glutathione (antioxidant) and reduced intake of external antioxidants like Vitamin C and Selenium children with autism suffer cellular and DNA damage.
Infections: In the presence of the immune dysregulation, infections can cause damage. Viruses in particular can cause neuroinflammation in the brain. Bacterial infections often are treated by antibiotics that damage the normal essential gut flora that are important in immune functioning, producing vitamins and preventing leaky gut.
EMF- Electromagnetic Fields from electronic gadgets like mobile phones and television: Effects of EMF/RFR exposure affects nervous system electrical activity, and these in turn generate the set of behaviors seen in autism. These behaviors may emerge from alterations of electrophysiological oscillatory synchronization and EMF/RFR could contribute to these by de-tuning the organism. EMF/RFR effects can occur within minutes (Blank, 2009) and may, in part, explain clinical reports of ‘intermittent autism’ – for example, some children with mitochondrial disease who have ups and downs of their bioenergetics status ‘have autism’ on their bad days but don’t display autistic features on their good days. ADHD and sleep problems have also been linked to EMF. The American Academy of Paediatrics recommends that children below age 2 years should not be exposed to these gadgets.
3. Different Biomedical Treatments
The main philosophy of Biomedical treatment are the following:
Avoid what harms
casein, gluten, additives, soya, phenols
Give what heals
Essential Fatty Acids
Treat Underlying problems
Correcting Nutritional Deficiencies
Omega Fatty Acids
Essential Amino Acids
Providing a good diet
Treating the gut
Treating the leaky gut
Treating dysbiosis that is the imbalance of normal gut flora
Treating reflux and enterocolitis
Preventing oxidative stress
Supporting the Detoxification Pathway
Treating the immune dysregulation and inflammation
Immune system support
Removing Immune triggers
Breaking the inflammatory cycle
1. Improving Diet
A balanced diet rich in vegetables, fruits, and protein is important to help provide those key nutrients. Avoid “junk food” – cookies, fried chips and add 5 portions of vegetables and fruits . Greatly reduce or avoid added sugar (soda, candy etc). Avoid artificial colours, artificial flavors, and preservatives.
Many children with autism have food allergies, due to abnormalities in their digestive and or immune systems. If food is not fully digested into individual sugars, amino acids, etc. Then the partly digested food can pass from the gastrointestinal tract into the bloodstream, especially if the child has a “leaky gut” due to inflammation. .The immune system recognizes those foods as foreign, and may launch an immune response to those foods, resulting in an allergic response. Identify and avoid these foods.
3. Gluten-Free, Casein-Free Diet (and often corn-free and soy-free)
Gluten and Casein are common food allergens, especially in children and adults with autism.Certain peptides from gluten and casein can bind to opioid receptors in the brain, and can have a potent effect on behavior (like heroin or morphine), causing problems including sleepiness, inattention “ zoning out”, and aggressive and self-abusive behavior. Like opioids, they can be highly addictive, and a lack of them can cause severe behaviors.
Stop Cow milk products, Gluten products like wheat, oats and rye and stop soy products
4. Vitamin/Mineral supplements
Vitamins and minerals form important coenzymes in cellular reactions. High doses of some vitamins and minerals are needed.
There are over 20 studies of vitamin B6 with Magnesium for autism, including 12 double-blind, placebo-controlled studies, making it one of most studied treatments for autism. Almost all of these studies found that 45-50% of children and adults with autism benefited from high-dose supplementation of vitamin B6 with magnesium.
Vitamin B6 is required for over 100 enzymatic reactions, including the production of major neurotransmitters (serotonin, dopamine, and others) and glutathione (needed for detoxification). Magnesium is used to prevent the possibility of hyperactivity, which can occur if the vitamin B6 is taken by itself.
Recommended dosage is about 8mg/pound of vitamin B6 (maximum of 1000mg) and half as much magnesium.
Essential fatty acids are critical nutrients for humans, especially the brain. They exist in the cell membrane of every cell, and roughly 20% of an infant’s brain is composed of essential fatty acids. Two general categories of essential fatty acids are omega-3 and omega-6. Omega-3 fatty acids have relatively short shelf-lives, so commercial food processing often hydrogenates or partially hydrogenates them, which provides long shelf-life but eliminates their nutritional value. Studies have found that children with autism have lower levels of omega-3 fatty acids than the general population.
One of the best sources of omega-3 fatty acids is fish, who obtain them from algae and plankton in the sea. Unfortunately, many fish are high in mercury and other toxins, especially the large predators (shark, swordfish, and tuna). So, it is generally safer for children to obtain essential fatty acids from fish oil since little mercury is stored in the oil.
The body normally produces a variety of digestive enzymes to break large food molecules into smaller ones which can be absorbed. Different enzymes are needed for different types of protein, carbohydrates, and fats. Children with autism sometimes have low levels of certain enzymes, or less active enzymes, or both – enzyme problems are especially common in children with gut problems (chronic constipation or diarrhea).
One digestive enzyme, DPP4, is easily deactivated by small amounts of toxins including mercury and organophosphates (pesticide sprays). DPP4 is needed to digest some peptides from casein and other substances that can have an opioid-like effect.
Take a digestive enzyme with each meal, usually at the start of the meal. Use enzymes that are as complete as possible.
8. Gut treatments: Antifungals and probiotics
The human gut contains a large number of bacteria (300 trillion). Most of these gut bacteria are beneficial and help with food digestion, water balance, and limiting the growth of harmful bacteria and yeast.
Some children with autism have low levels of beneficial bacteria and high levels of harmful bacteria and yeast. The harmful bacteria and yeast produce toxins that can severely affect mental functioning and behavior; alcohol is just one of many toxins that yeast can produce, and is a good example of a yeast toxin that can severely affect behavior.
Treat with a combination of antifungal diet, antifungal medications (if the yeast is present) and probiotics (beneficial bacteria). These can help restore normal gut function.
Anti-fungal diet: Yeast feed on sugar and simple carbohydrates, so reducing or avoiding those foods is important. Also, it can be helpful to avoid foods containing yeast or yeast products, including fruit juice, vinegar (in ketchup and other foods), leavened foods (bread, pizza, bagels, rolls), cheese and mushrooms (a type of yeast/fungus).
Anti-fungal medications: There are several prescription and non-prescription anti-fungal treatments, and sometimes several need to be tried before finding an effective one for a given strain of yeast.
Probiotics: Probiotics are mixtures of one or more beneficial bacteria which are normally present in the gut. Many probiotics contain only a few billion or less Colony Forming Units (CFU’s), but some strong probiotics contain 30-75 billion CFU’s, and some prescription probiotics contain up to 500 billion CFU’s.
9. Amino acids
Protein is made of long strands of individual amino acids. When protein is digested properly, digestive enzymes split the long protein molecule into small peptides and individual amino acids, which the body can absorb.
Those amino acids can then be reassembled to make a wide array of critical substances, such as neurotransmitters, hormones, enzymes, antibodies, immunoglobulins, glutathione, and many other substances. Amino acids are the “building blocks” of life.
Some children with autism have self-limited diets that are low in protein, and some have digestive problems that limit their ability to digest protein into individual amino acids. Either of these problems can lead to insufficient amino acids.
Ensure diet contains sufficient protein (two 4-oz servings/day). Consider digestive enzymes to more completely digest the protein into individual amino acids.
Many children and adults with autism have sleep problems, including falling asleep, nighttime walking, and early waking. Supplementation with melatonin can help. Melatonin is the hormone the body naturally produces at night time to regulate sleep. It is formed from the neurotransmitter serotonin, so low serotonin levels can cause low melatonin levels.
Melatonin production is greatly reduced by light, and even a simple nightlight can greatly decrease melatonin production. So first try eliminating all sources of light. For problems falling asleep, first, try a behavioral approach of a regular nighttime routine (at a fixed time, begin bath/shower, brush teeth, story, etc.). Also, be sure to eliminate caffeine and reduce sugar intake at nighttime.
If sleep problems persist, start with 1mg of melatonin (0.5mg for children), and increase up to 2-5 mg if necessary (1-2 mg for children).
About 5-10% of the general population has a thyroid disorder requiring supplementation, and that percentage may be higher in autism.
If iodine levels are low, then one can begin with iodine supplementation. If that does not normalize thyroid levels, then one can consider thyroid supplements.
Sulfate is used for many functions in the body, including detoxification, maintaining the lining of the gut, and hormone production. Some children with autism have a low level of sulfate in their bodies, due to a variety of reasons including poor absorption in the gut, excess loss in the urine, poor recycling of sulfate by the kidney, or oxidant stress and inflammation.
The two effective methods were oral MSM (500-2000mg depending on size and sulfate level) and Epsom salt (magnesium sulfate) baths – 2 cups of Epsom salts in warm/hot water, soak for 20 minutes, 2-3x/week.
13. Glutathione therapy
Many children with autism have low levels of active glutathione, which is needed to protect the body from many toxins including toxic metals.
There are many ways to increase active glutathione levels. Only 10% of oral glutathione is absorbed but intravenous glutathione is invasive and temporary. Adding Vitamin C, Methylcobalamin and Folinic acid increases production of Glutathione.
14. Chelation: Removal of toxic metals
Many children with autism have a low amount of active glutathione, and a higher fraction of their glutathione is oxidized (inactive). Glutathione is the body’s primary defense against mercury, toxic metals, and many toxic chemicals, so a low level of glutathione results in a higher body burden of toxins.
Also, many children with autism had increased use of oral antibiotics in infancy, which alter gut flora and thereby almost completely stop the body’s ability to excrete mercury.
Normalizing glutathione, restoring gut flora and removing toxic metals often results in a reduction of the symptoms of autism.
The chelation treatments recommended by DAN! Include DMSA, DMPS, and TTFD.
DMSA: Oral DMSA is approved by the FDA for treating lead poisoning in children. Some of the compounded rectal suppositories also appear to increase excretion of toxic metals, but the transdermal forms do not measurably increase excretion of toxic metals.
Safety: DMSA only slightly affects excretion of most essential minerals, so a basic mineral supplement can compensate for this. The exception is that the first dose of DMSA removes a significant amount of potassium (equivalent to that in a banana), and that is not included in mineral supplements, so 1-2 servings of fresh fruit or vegetables should be consumed to restore potassium levels.
DMSA also significantly increases excretion of cysteine, so that should be supplemented before and/or during therapy.
DMSA has a small chance of increasing liver enzymes or decreasing blood cell count, so those should be monitored during treatment.
15. Immune system regulation
Several studies have found abnormal immune systems in autism, generally with the shift to Th-2, and some evidence for auto-immunity.
IVIG: Gupta et al. found IVIG benefited 4 of 10 children, with 1 case of marked improvement. This is an expensive treatment, as the immunoglobulins need to be collected from hundreds or thousands of human donors.
ACTOS: ACTOS (pioglitazone) has multiple effects, including the ability to decrease inflammation. An open study of ACTOS in 25 children with autism for 3-4 months found substantial improvements in irritability, lethargy, stereotypy, and hyperactivity, with greater benefits for the younger children. Doses were 30mg (younger children) and 60mg (older children).
Low dose naltrexone: There have been 14 clinical trials of naltrexone for children with autism. A review paper by Elchaar et al. reported “Naltrexone has been used most commonly at doses ranging from 0.5 to 2 mg/kg/day and found to be predominantly effective in decreasing self-injurious behavior.
Naltrexone may also attenuate hyperactivity, agitation, irritability, temper tantrums, social withdrawal, and stereotyped behaviors. Patients may also exhibit improved attention and eye contact. It has been suggested that low dose naltrexone, at about 3-5mg/day (much lower than the doses mentioned above) may be beneficial to children with autism and may improve the regulation of their immune system.