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Why Autism is not just about genes?

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The Center for Disease Control has found that we are facing an epidemic of Autism Spectrum disorder (ASD) (See Table 1 above). This is an alarming situation because Autism has a huge toll on children and their parents. As opposed to conventional belief, environmental exposures rather than genetics alone is responsible for the development of Autism. Hence an early functional integrative approach that identifies and addresses the environmental factors underlying this disorder along with behavior modification offers an optimal and effective strategy to prevent, halt and reverse the symptoms of autism.

What is Autism?


ASD is a complex condition related to brain development. In the short term, autistic children have difficulty with social skills, speech development, verbal and non-verbal communication. In the long run, they have difficulty with autonomy, employment opportunities and social relationships. They require significant support from parents, teachers and health providers to overcome their challenges.


Is Autism genetic or epigenetic?


The rising rate of ASD in Table 1 cannot be explained by genetics alone. There is no single gene that can explain ASD. There are genetic changes that have been found in some ASD kids but not all of them. A change in genetics require thousands of years to occur so the sharp increase in ASD indicates that there are other factors involved in the causation of Autism. The largest autism twins study undertaken by Stanford University school of medicine showed that the probability of ASD was higher amongst fraternal twins (twins that share only 50% genes) than identical twins that share 100% of genes. The researchers found that genes only explained 38% of ASD while share environment was responsible for 58% of ASD.


An important concept to explain ASD is Epigenetics. Epigenetics means that the expression of genes can be modified by certain chemicals and or molecules. The environment can induce epigenetic changes that lead to the development of ASD. Identification and modification of environment leads to prevention and reversal of ASD symptoms.


Is Autism Preventable?


Yes, it is definitely preventable because it is largely dependent on the environment that the kid gets when he/she is developing in the mother’s womb and after birth. Research shows that babies born to mothers who have high degree of inflammation (measured by a blood test C-reactive protein, interferon gamma, Interleukins 4 and 5) are at risk for developing Autism. The higher the level of inflammation markers in blood, the higher the risk of Autism in the baby. Similarly research also showed the high markers of inflammation in the fluid surrounding the baby (Amniotic fluid) in the mother’s womb is also linked to development of ASD.


We also know that maternal and paternal obesity can double the risk of Autism. A baby born to a mother who is obese and develops diabetes increases the risk of Autism by 4 folds. These are clear indicators that maternal and paternal health affect the genetic expression of autism in babies. Both obesity and diabetes are connected to inflammation So the key is to assess the inflammation in mothers and fathers prior to conception and reduce that inflammation to reduce the risk of Autism in babies.


In addition, there are many triggers that have been identified by researchers that have led to autistic behavior through inflammation in children such as the use of Tylenol during fever, and exposure to vaccines during illness. Researchers such as Dr. Paul Thomas has discussed an alternate safe vaccine schedule to reduce over activating the immune system too early in life. There are inflammatory foods that can be avoided and anti-inflammatory foods can be added to prevent ASD. Similarly, there are many environmental changes that can be undertaken to reduce overstimulation of the immune system. The digestive tract and the bacteria in the digestive system need to be optimized to improve the immune system tolerance and removal of toxins.


A Functional Integrative approach to ASD


The first step is to acknowledge how every child with Autism is unique in terms of its genetics, environmental exposures, gut bacteria, ability to process environmental toxins and nutritional requirements. The second step is to identify and address the unique genetic predisposition as well as environmental exposures that have led to the development of ASD. Children with autistic disorders can be classified according to the root cause. There can be multiple root causes in a specific ASD child. The role of an experienced functional provider is to assess every ASD child, teenager or adult for these potential root causes and address the identified root causes to reverse the symptoms as well as optimize neurological development.


Classification of ASD


ASD can be classified according to its root causes into the following categories. Please note that there can


  1. Gut Brain Disorder


Research shows children with Autism have 3 times more frequent digestive symptoms such as belly pain, gas, bloating, sensitivity to foods, vomiting and difficulty swallowing, diarrhea, constipation or pain on stooling. Autistic children with more digestive symptoms were found to have more irritability, social withdrawal, and hyperactivity.  The most commonly reported food sensitivities include dairy, gluten, nuts and soy. There are a few important reasons how the digestive tract can influence the autistic behavior including imbalanced bacteria in the gut, followed by leaky gut (intestinal permeability) and malabsorption leading to nutrient deficiencies. The imbalanced bacteria release toxins (endotoxins) that are able to leak into the bloodstream because the lining of the intestine is broken in ASD. These toxins enter the brain because the lining of the brain called blood brain barrier in autistic kids is not intact (leaky brain). Clearly, an important assessment needed for all ASD children is whether there is a leaky gut and/or presence of abnormal gut bacteria leading to increased inflammation in the brain.


  1. Mitochondrial Dysfunction


Mitochondria are very small bean shaped structure in the cell that is  responsible for energy production. There are many mitochondria in each cell. The mitochondria contain DNA. Research shows that the mitochondrial DNA of autistic children has multiple abnormalities. This is one of the reasons for the abnormal development of these children.


The abnormal mitochondrial DNA may be a result of production of free radicals (these are chemicals produced in the mitochondria). They are produced when the mitochondria are exposed to any kind of stress. The stress could be produced by inflammation either from infections, toxins and metabolic disturbances.


Mitochondrial DNA is inherited from the mother so one possibility is that the children may have inherited these abnormalities from their mother. The other possibility is that toxic exposures during and after birth lead to abnormal development of mitochondria.


     3. Oxidative Stress


Studies have shown that autistic kids have a lot of free radicals. Free radicals are molecules that can do a lot of damage to the different components of cell including the cell membrane. The damage caused by free radicals is called oxidative stress. ASD children have high oxidative stress. Antioxidants are needed to reduce oxidative stress and the level of antioxidants in ASD has been found to be low. In addition, multiple studies have shown that providing antioxidant dietary support to these kids shows clinical improvement.


    4. Immune dysfunction and inflammation


An important finding in children with autism is presence of markers of inflammation in the brain tissue as well as the fluid surrounding the brain and spinal cord (cerebrospinal fluid). In addition brain cells called microglia are activated in ASD.  About 10–15% of all cells in the brain are Microglia. These cells act as the first and main form of active immune defense in the central nervous system (brain and spinal cord). Inflammation in the brain leads to activation of these cells. The persistent activation of these cells leads to neuronal damage through the release of inflammatory molecules in the brain. Interestingly, research implicates that inflammation in mother can lead to activation of microglia in the brain of the fetus affecting brain development. The activation of microglia can also occur after birth if the baby or child is exposed to environmental toxins.


The inflammation in ASD children is not limited to brain. They also have inflammation markers in the bloodstream implicating that the inflammation is present throughout the body. Another indication of inflammation is the high prevalence of obesity in these children. ASD children demonstrated the highest frequency of rapid weight gain during infancy. Forty percent of autistic kids are overweight or obese, which leads to significant risk of chronic disease in years to come. Adults with ASD have 69% higher risk of obesity 42% increased risk of high blood pressure and 50 % increased risk of diabetes compared to those without ASD.


  5. Nutritional deficiencies


ASD children have been found to have sensory sensitivities leading to restriction of food choices. The food selectivity can lead to eating the same types of food along with development of nutritional deficiencies. Studies have shown that ASD kids have been found to have many nutritional deficiencies including vitamin D and Omega 3 fatty acids deficiency. These nutrients play an important role in development of brain hence these deficiencies may play an important role in causing or worsening symptoms of ASD. An important goal of functional approach is to address these nutritional deficiencies.


Prefrontal cortex is the part of the brain that is connected with thinking, planning and reacting to specific situations. It is the last area of the brain to be developed and continues to grow till the mid-20s. Neuroplasticity is the ability of the brain cells (neurons) to form new connections throughout our life but more so during the earlier part of our life. This capacity can be positively affected by our experience, hormones, parent-child relationship, peer relationship. Stress, diet, environmental exposures and gut bacteria. A functional approach informs, guides and helps the family use all the necessary tools needed to achieve normal brain function without adverse reactions.

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