Biomedical Treatment of Autism

Sheri Marino MA, CCC-SLP

Biomedical treatments address issues in system functions including gastrointestinal disorders, immune system dysregulation, metabolic and genetic abnormalities, and nutrition-based disorders affecting brain function and inflammation.  While western medicine is necessary to treat many complex medical comorbidities, biomedical treatments focus more on environmental effects on the body that can also exacerbate the severity of autism symptoms.  They examine both the internal and external environment to identify causes of symptoms which may indicate the presence of underlying illness or disease.

Biomedical treatments for autism aim to address issues that may be influenced by environmental factors which increase vulnerability to disease. Air pollution, endocrine-disrupting chemicals, heavy metals, overuse of antibiotics, junk diets, mercury, pesticides, and other toxins are causing epigenetic changes in our DNA, influencing gene expression and development of neurological and inflammatory diseases. Unfortunately, avoiding air pollution or pesticides in our foods and even avoiding products with mercury may not always be possible.

Researchers who study the epigenome demonstrate that these toxins not only affect our health, but the changes to our DNA increase our children’s susceptibility to diseases not seen in earlier generations. This leaves children vulnerable to all environmental factors even before they are born. Autism is not the only concern, as 50% of all US children have some type of chronic illness.

Medical professionals who specialize in biomedical treatments include MDs (Doctor of Medicine), DOs (Doctor of Osteopathic Medicine), DCs (Doctor of Chiropractic Medicine), and NDs (Doctor of Naturopathic Medicine). Other practitioners including registered dieticians and nutritionists also treat individuals with autism spectrum disorder (ASD) as vitamin and mineral deficiencies are prevalent and supplementation may benefit those with deficiencies secondary to both genetics as well as selective and restricted diets.

Close-up of stethoscope and folder on background of doctors at work
1. Metabolic Disorders

Metabolism is the body’s process of breaking down food into energy sources by using enzymes to transform protein, carbohydrates and fat into a usable form. Mitochondria are the life force within the cells whose primary role is to convert food into energy so organs can do their job.  Metabolic disorders interfere with this process and cause disruptions in body functions. There are several neurometabolic and mitochondrial disorders in which autism is associated. A higher incidence of food allergies and diet restrictions such as gluten free/casein free (GF/CF) diets may also lead to deficiencies in ASD individuals. Sensory processing disorders often associated with ASD can also affect food selection, limiting intake of nutrient dense foods.

Studies show vitamin and mineral deficiencies can have a basis in genetic, behavioral, and environmental causes. Micronutrients are essential for proper neural development. The following key nutrients are essential for bodies to function and are often shown to be deficient in individuals with ASD. Metabolic profiles can be obtained by asking a physician to order appropriate lab work to guide a treatment plan to address any imbalances, either accumulations or deficiencies.

a. Vitamin A: A defect in a retinoid receptor protein (G-alpha protein) may play a role in language processing, attention, and sensory perception. Evidence suggests natural vitamin A fixes this protein defect.

b. Vitamin D: Studies show that low levels of Vitamin D in pregnant women may be linked to autism. The rise in autism has occurred simultaneously with the vitamin D deficiency epidemic, hence the “Vitamin D Deficiency Theory” of autism. Vitamin D works as a neurosteroid to stimulate brain development and potentially reduce risk for autism. Vitamin D helps combat inflammation in the gut caused by excessive serotonin levels. Its anti-inflammatory properties help combat oxidative stress in autistic brains. Vitamin D protects brain tissue by reducing high levels of inflammatory cytokines associated with cognitive impairment. Vitamin D is also a glutathione (GSH) pathway as it stimulates production of GSH, the body’s most important antioxidant. Some studies show that high dose Vitamin D therapy reversed some autistic behaviors.

c. Carnitine: Low carnitine impairs the ability to use fatty acids important for learning and social development.

d. Zinc: Zinc regulates immune function. The zinc/copper ratio can be particularly low in children with ASD. Low zinc levels impair the protein called metallothionine that removes heavy metals from the body and eliminates toxic mercury from brain tissue.

e. Magnesium: Individuals with ASD can have low levels of magnesium, the cofactor for the neurotransmitters that affect social reactions and emotion. Magnesium supplements can also improve the effectiveness of vitamin B6 therapy.

f. Vitamin B6: Conversion of B6 to its active form is compromised in many individuals with ASD; Supplementation trials with B6 resulted in better eye contact, speech, and fewer self-stimulatory behaviors. Some consider using B6 in combination with magnesium to be an effective treatment for autism.

g. Vitamin B12: Low B12 impairs methylation (detoxification) which causes neurological damage that some say is responsible for many autism symptoms. Vitamin B12 raises cysteine and glutathione levels.

h. Vitamin B1: A deficiency in vitamin B1 is linked to delayed language development. Supplementation may benefit language development in individuals with ASD.

i. Vitamin C: Vitamin C improved symptom severity and sensory motor scores in studies with children with ASD possibly due to interaction with dopamine synthesis. Vitamin C and glutathione work cooperatively together to reduce oxidative stress.

j. Omegas 3s: Studies show children with autism have lower levels of omega-3 fatty acids than the general public. Essential fatty acids (EFAs) exist in every cell membrane and are critical for brain development and act as an anti-inflammatory mediator.

k. Cerebral Folate Deficiency: This disorder can include deceleration of head growth, psychomotor retardation, regression, cerebral ataxia, dyskinesias, seizures, and a depletion of cerebrospinal fluid 5-methltetrahydofolate (5-MTHF), the hallmark of cerebral folate deficiency. Oral folate therapy can resolve symptoms of autism in some cases, particularly in those with genes that impair folate dependent enzymes. Individuals with cerebral folate deficiency benefit from a dairy-free diet.

l. Biotinidase Deficiency: Low biotin levels results in impaired language, socialization, neurologic function, developmental delay, and behavioral disturbances.

m. Creatine Deficiency: This disorder produces clinical symptoms including mental retardation, autism, speech delays, epilepsy, and other symptoms. Systemic creatine deficiencies can be responsive to oral supplementation.

n. Purine Metabolism Disorder: Accumulation of certain purines in the brain is associated with an autism phenotype. Clinically these disorders can present symptoms such as developmental delays, seizures, agitation, poor eye contact, and repetitive behaviors. One disorder of purine metabolism can result in impaired immune function from a build-up of toxic lymphocytes. No effective treatment is known to address these purine disorders. More research is needed to determine the neuroimmune abnormalities associated with autism.

o. Cortisol: It has been estimated that between 11 -84% of children with ASD experience anxiety that impairs everyday function and 42 -55% have a comorbid anxiety disorder. Studies show that individuals with ASD have normal patterns of higher to lower cortisol levels from morning until evening. Cortisol levels, however, when compared to control groups are significantly higher overall. Cortisol, a stress hormone is particularly higher in lower functioning ASD and lower in higher function ASD. In a study that looked at biologic reactivity, a rapid and prolonged level of cortisol response in reaction to a stressor such as a blood draw, showed clinical significance. This indicates that the biologic conditions produced by stress hormones could be associated with the behavioral response. Many individuals with ASD have difficulty sleeping and high cortisol levels could be blamed. Some research suggests supplementing with phosphatidylserine may be beneficial in reducing cortisol levels and improving sleep.

p. Amino Acids: Amino acids are considered to be the building blocks of life responsible for making neurotransmitters, hormones, enzymes, antibodies, immunoglobulins, glutathione, and more. Research shows children with autism, as compared to an age and gender matched control group, had significantly lower levels of several amino acids. Low levels can be treated with supplementation of amino acids, vitamins, and minerals.

  • Tryptophan: This amino acid stimulates the release and production of serotonin and melatonin. The majority of the body’s serotonin, between 80-90%, can be found in the gastrointestinal tract. Abnormalities in the production of serotonin and melatonin have been linked to behavioral and neurodevelopmental problems. It is thought to affect mood, social behavior, appetite, digestion, sleep, and memory.
  • Phenylalanine: Accumulation of phenylalanine results in Phenylketonuria (PKU) causing mental retardation, seizures, altered brain development, and an autism phenotype. Early treatment of PKU with dietary restrictions can reduce the prevalence of autism in affected children.
  • Tyrosine: Tyrosine is responsible for dopamine production. Low tyrosine levels can lead to brain dopamine deficiencies leading to executive dysfunction.
  • Glutamine: Blood levels of this amino acid which acts as a neurotransmitter are particularly low in people with autism. Glutamine helps prevent leaky gut syndrome which can exacerbate autism symptoms.
  • Glutamate: This powerful excitatoryneurotransmitter is released by nerve cells in the brain. It plays an important role in learning and memory. Some children with ASD have high levels of this nonessential amino acid which relates to self-stimulatory behavior, seizures, and other problems.
  • Glutathione & Cysteine-These antioxidants are commonly deficient in autistic individuals due to abnormal methionine metabolism. A lack of these antioxidants impairs detoxification and the methylation processes; Low levels are linked to neurological symptoms in autism which is often considered an oxidative stress disorder. Decreased glutathione is associated with cancer, asthma, fibromyalgia, multiple sclerosis, chronic fatigue and mental health disorders. Supplements that boost glutathione production include N-acetyl-cysteine (NAC), folate, vitamin B6, vitamin B12, vitamins C, E, and selenium.

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