Autism

A Functional Medicine approach to Autism

Autism or autism spectrum disorder (ASD) is a developmental disorder that appears in children generally within the first 2-3 years of life. Autism can manifest in unique and variable ways which is why it’s referred to as a “spectrum” disorder. Challenges with social skills, repetitive behaviors, emotional outbursts, speech and nonverbal communications are common concerns. There are many subtypes of autism and each person will have their own strengths and challenges. Our approach to Autism is inherently personalized to the needs of each patient.

The foundation of decision making is formed by gathering pertinent labs consistent with current research as to the root causes of autism. We divide these labs into 4 major categories for simplification. First is oxidative assessments, second methylation pathways, third toxicities, and lastly, inflammation from infections and food intolerances.

Treatment

Oxidation is a chemical reaction necessary to good health. However, many disease conditions result in excessive oxidation with insufficient natural antioxidant protectors resulting in the release of free radicals and undesirable chemical reactions. Free radicals are able to damage proteins, membranes, DNA, and produce excessive inflammation. Autism is linked to oxidative stress as a result of free radicals from toxic metals, smog, pesticides, biotoxins, infections, radiation, and chemical waste products.

There are many biochemical features of autism as a result of oxidative stress in the brain and body. We test for deficiencies of certain nutrients, minerals, and biomarkers that can affect normal free radical control and healthy brain function. Our goal is to support the brains already existing mechanisms for oxidative management. Here are a few of the things we test for and why.

  1. Zinc: Zinc is the most common depleted nutrient found in mental health diseases, including autism. Zinc is a component of more than 200 enzymes functioning as antioxidants, converting B-6 to PLP, supporting synthesis of neurotransmitters, and inhibition of NMDA receptors. In addition Zinc is valuable in building reserves of Metallothionein which blocks and aids in the removal of toxic metals as they try to cross the gastrointestinal and brain barriers. Optimized levels of Zinc brings significant improvements to patients and is a powerful generator of superoxide dismutase(SOD), our body’s most important free radical fighter.
  2. Vitamin B-6 deficiency is the second most common biochemical feature of autism. Vitamin B-6 is involved in at least 80 known biochemical pathways in the body. Both zinc and vitamin B-6 are vital for efficient synthesis of neurotransmitters such as serotonin, dopamine, and GABA. Vitamin B6 deficiency has been associated with irritability, depression, poor short-term memory, and psychosis. Vitamin B6 is also involved in optimization of methylation pathways with some patients needing much more than the recommended RDA’s because of genetic disorders and oxidative burden and resultant loss in urine with or without Pyrrole disease.
  3. Glutathione: Glutathione is a protein within the brain involved in protecting tissues and cells from reactive oxygen species such as free radicals and heavy metals. The brain is constantly producing reactive oxygen species through normal functions of metabolism. Low levels of glutathione can allow brain tissue to be more susceptible to oxidative stress and damage which can worsen neurological symptoms.
  4. Cysteine: Cysteine is an amino acid and one of the building blocks of glutathione. Cysteine deficiency will lead to glutathione deficiency and results in the same symptoms.
  5. Selenium: Selenium is a non-metal chemical element. It can serve many purposes within the brain. It aids in glutathione activity and can affect hormonal and neurotransmitter activity. It is also effective at combating the neurotoxicity of certain metals. A deficiency in selenium can affect any one of these aspects, with the additional activity of helping regenerate our most potent free radical fighter, SOD.
  6. Magnesium: Magnesium is another mineral that is vital to healthy brain function. It plays a role in over 300 enzymatic reactions in the body and brain. It aids in muscle contractions, DNA and RNA synthesis, efficient nerve signaling, and protecting neuronal cells from oxidative stress.

Methylation can be defined as the addition of a methyl group(CH3) to an atom or a molecule. As a biochemical process of significant importance in human functioning, it is essential to physical and mental health. Methylation influences a person’s personality and traits. Some traits can be positive attributes and others can be associated with serious disorders of mood regulation and cognition, including autism.

The new field of epigenetics, which deals with modifications of gene expression rather than changes of the genetic code, is increasing our understanding of autism. With methylation as the most dominant factor in epigenetics, growing evidence suggests autism may be influenced by epigenetic factors and that autism expression correlates with certain gene expression. Although 70% of the population exhibits normal methylation, approximately 22% are undermethylated and 8% overmethylated, producing mental and behavior disorders.

One major area of study in epigenetics is methylation and acetylation. Methylation and acetylation refer to chemical groups placed on DNA that either “tighten” or “loosen” the DNA. Tighter DNA restricts gene expression while looser DNA promotes it. In the brain, there are transport proteins which remove neurotransmitters (serotonin, dopamine, norepinephrine, etc.) from the synapse for later reuse. Higher levels of these transport proteins lead to lower levels of neurotransmitter activity in the brain. People who are undermethylated, or who have loose DNA, express these transport proteins at higher rates thus lowering their neurotransmitter activity. While on the other end, people who are overmethylated have too few transport proteins and too much neurotransmitter activity. Patients with autism are usually found to be undermethylated which means decreased neurotransmitter activity.

Tests can be done to determine the patients methylation status. Therapies can then be applied which aim to normalize methylation and acetylation levels. Lab testing may include analysis of direct methylation pathways or histamine levels(an indirect method), which evaluate overmethylation or undermethylation status.

Along with testing for deficiencies of vital minerals and nutrients, we also test for toxic exposures that can overload the system leading to oxidative stress. These tests help us determine if there is something else at play that’s worsening a patient’s symptoms or preventing their treatments from working. These are the things we look for.

  1. HLA-DR/Mold Sensitivity: People who carry a certain allele of the human HLA gene are highly susceptible to mold toxicity and infection. Their bodies are not as capable at removing mold toxins and thus have chronic symptoms related to mold exposure. Mold exposure symptoms are diverse and multi-systemic affecting the whole body. Genetic testing can help us to know if the patient is more susceptible to mold toxin. Treatments can then be administered to help the body combat the symptoms related to mold exposure.
  2. Urine Mycotoxins: We can also test for mycotoxins within the patient’s urine to determine if the patient is suffering from mold exposure past or present. HLA Mold positive patients will be negatively impacted by the recirculating biotoxin load from mold exposure. Urine Mycotoxin testing is the most reliable method for determining past or current biotoxin exposure.
  3. Copper Overload: Excess copper has been linked to neurological symptoms including schizophrenia, bipolar disorder, postpartum depression, ADHD, and in autism. Copper is used to convert dopamine to norepinephrine and epinephrine. Too much copper then, leads to an excess of these two chemicals which causes neurological symptoms. Copper also has other functions within the brain that can be affected by having too much, including depression of Zinc levels and oxidative stress.
  4. Copper/Zinc ratio: Copper and Zinc levels are usually inversely related. Where we see high levels of copper, we also see low levels of zinc. Increasing zinc helps the body decrease copper. Normalizing the ratio of copper to zinc is an important area of treatment which is helpful to the autistic population.
  5. Ceruloplasmin: The function of this protein is associated with unbound copper levels in the body. Ceruloplasmin is the major copper-carrying compound in the body and helps remove excess copper. Low levels of ceruloplasmin means that there are high amounts of unbound copper in the bloodstream. Unbound copper can then accumulate within the body and begin to cause symptoms. Elevated ceruloplasmin can combat this effect.
  6. Toxic Metals: Accumulation of heavy metals, such as mercury, lead, copper, cadmium, and a host of other metals in the body can lead to severe neurological symptoms. Exposure to these metals can come from food, water, inhalation, contact with chemicals, and the environment to name a few ways. By knowing what heavy metals are affecting the patient, we can help the patient begin to detoxify.

The presence of inflammation is not always consistent between patients, but when is shows itself through elevations in labs such as C-reactive protein, Sedimentation Rate, Complement C4a, Transfer Growth Factor Beta 1(to name a few), we should pay attention. It always means something, such a gluten intolerance, infections from bacteria, molds, parasites, viruses, Lyme, and Strep. A small description of the most common and helpful labs may be helpful.

  1. Inflammatory markers including C-reactive protein, Sedimentation rate, Transfer Growth Factor Beta 1 always predict a process of inflammation that may be present in the body but in addition crossing over or having affect within the brain itself. Treating the root cause of the inflammation can often lead to a reduction in negative symptoms and sometimes improvement in desired behaviors. Evaluation of common infections or labs predicting current infections can also be helpful.
  2. Immune markers of immune imbalance such as IL3, TNF-alpha, IL-12 have been present in the research and can predict an imbalance in immune response. Nutrients and therapies which are able to balance these immune irregularities will prove to be beneficial.
  3. The proper diagnosis and treatment of PANs and PANDAS can be remarkable. These pediatric conditions resulting from a strep infection with resultant antibodies affecting the brain produce a myriad of intense symptoms uncommon in young patients. Sadly medicine for the whole has missed this valuable diagnosis which leads to severe inflammation in the brain resulting in the symptoms of anxiety, oppositional defiant disorder, autism spectrum, tics, and attention issues resulting in cognitive difficulty
  4. Lyme Disease has been found to be present in a small subset of autistic children. Lyme disease is known to produce inflammation in the brain resulting in the all the symptoms we recognize or describe as autism today.
  5. Research and experience have also found the avoidance and gluten and dairy in the diet of an autistic child results in reduction of inflammation and often significant observable improvements within a few weeks. Food intolerance testing can be helpful in proving the presence and intensity of these food reactions as well as other uncommon food intolerances which can irritate the gut brain barrier.

Autism researchers have begun to discover multiple areas of dysfunction within areas and connectivity of the brain. Some researchers have found anatomical abnormalities in the amygdala-fusiform system indicating poor connectivity between brain areas. Researchers from Harvard have found areas of poor development and synaptic connections in the primitive brain of autistic children. Others have found poor maturation of the cortex, particularly narrowing in the minicolumn array of cells. Some have observed oxidative damage. Research has also found short, undeveloped brain cells in the cerebellum, pineal gland, hippocampus, and amygdala, with a poverty of dendrites and synaptic connections in autistic children, all leading to reduced ability for learning, speech, and socialization.

When areas of the brain are affected very specific dysregulations are expected. For example when the cerebellum is affected, individuals may exhibit odd, repetitive movements. When the amygdala is affected we can expect difficulty in developing social skills. With concerns of speech we can expect possible problems the hippocampus which partners with Broca’s area and Wernicke’s area.

In addition, research strongly suggests that autistic brains show significant inflammation inhibiting brain development and leading to irritability, speech delay, cognitive delay, and sleep disorders.

Our initial treatment strategy will be to rule out and treat the root causes of autism, whether they are current or past, with the goal of recovering the patient through improving oxidative therapies, optimizing methylation pathways, reducing toxicities, and resolving inflammatory sources. As valuable as these ideas are, these do not predict the establishment of new or optimal brain pathways. In essence, an Autistic brain has been “concussed” by the events as described previously. In order to fully recover the patient and improve upon his or her abilities, we need to reset the brain back to where it belongs before it was injured. This requires therapies which target the brain specifically. The two therapies observed to be the best in doing just that are Neurofeedback and Hyperbaric therapy. Both therapies have growing evidence of clinical effectiveness both in research and clinical cases. Both therapies are described below.

As a neurodevelopmental disorder, the challenges of autism are observable on a QEEG or brain map. Brain maps are able to describe individual differences in brain patterns which coincide with the challenges observed in autistic children and adults. Distinct patterns within the Delta, Theta, Alpha, and Beta brain waves are able to predict emotional, social, and mental functional challenges.

Although there is no specific cure for autism, neurofeedback is emerging as an effective treatment for patients with autism, that has proven its success in scientific and clinical research. Neurofeedback therapy utilizes the brain’s neuroplasticity to rewire new, efficient, and coherent patterns, which optimize brain functioning. These newly developed wiring patterns in specific areas of the brain help the patient socialize, communicate, and control behavior. Neurofeedback therapy improves the balance between the different brain waves which correlates with improvement in autistic symptoms. We know from experience with autistic patients, that neurofeedback indeed improves patient’s lives.

Physiological abnormalities have consistently been observed in a number of individuals within the autism spectrum, including cerebral hypoperfusion, inflammation and mitochondrial dysfunction secondary to oxidative damage

Cerebral hypoperfusion (decreased blood flow to the brain) was shown to be the promoter for certain symptoms of autism such as repetitive behaviors, inflexible routine, underdeveloped language skills and difficulty expressing and recognizing emotions as well as facial cues and gestures. Theories on hyperbaric therapy suggest that increasing oxygen to areas of low oxygen in the brain as a result of chemical, toxic, inflammatory, or physical trauma, are able to reinvigorate and return neurons back to normal functioning. In one experiment conducted with 108 children, 50 sessions run for an hour each were performed with results showing at least 60% improvement of perfusion in all parts of the brain.

Autism studies have discovered inflammation as a characteristic finding in those on the autism spectrum. Inflammation was commonly found present in the brain as well as the gastrointestinal system. This observation has been corroborated by hundreds of similar studies performed. In all these studies, markers for inflammation were measured, followed by hyperbaric therapy, with a marked reduction in inflammatory markers, as well as overall inflammation. Improvements of behavior were also observed to be directly correlated with the reduction of inflammation.

Mitochondria is an organelle within the cell whose primary role is to produce adenosine triphosphate (ATP), which is the energy currency of the body. If a mitochondria is dysfunctional then it will produce low levels of ATP which means low amounts of energy available for the body to accomplish its normal functions. This low energy, along with harmful byproducts produced by the dysfunctional mitochondria, is suspected to give rise to Autism and autism-like symptoms. Mitochondrial dysfunction has been found in autism patients with evidence to support this claim. Mitochondrial damage has been proposed to be secondary to oxidative stress, a combination of too many free radicals and not enough resources to quench them. Fortunately, this same research found that subjects who were treated with Hyperbaric Oxygen Therapy, whether they had mitochondrial dysfunction or not, increased ATP production, with their dysfunctional mitochondria being destroyed and healthy new mitochondria being generated.

We hope this is helpful for you and invite you to not get overwhelmed with what you think you’re not doing or don’t know. We welcome you to call us with any questions or concerns you may have about Autism and treatments.