Causes of autism

The management of autism is based on the etiology – the causes or origins of the condition – and the outcome of its impact on the developing brain and on the entire child. Let’s look at the possible etiologies of autism and how it has evolved over time.

Initially autism was believed to be an emotional disorder and his mother was blamed for it. The recommended treatment was psychoanalysis and psychotherapeutic counseling for the mother and child. No specific treatment was given, except for a few drugs to make the child more manageable. This concept is now rejected.

Then it was suspected to be a genetic disorder. This is unlikely because of its sporadic occurrences, with a rapidly progressive increase in numbers. And to date, no basic genetic marker has been identified.

Another view is that autism is a psychiatric disorder. This view is still being followed, in particularly among the mainstream doctors. Many modules of behavioral therapy are still actively practiced. The journey is arduous and frustrating, and the result often discouraging. The child is often drugged.

Now we regard autism as a biomedical disorder due to neurodegenerative changes in the brain.

Basis of neurodegenerative damage

The fetal and infant brains are still immature and extremely venerable to insults during their developmental period. Many factors are now known to provide the trigger for autism, either directly or in combination. Because of the various factors and variable combinations of these factors, and the different susceptibility of the developing fetal and infant brain, the outcome and the expression of autistic severity are variable. Hence we see a spectrum of severity. The term Autism Spectrum Disorder (ASD) is now used to embrace the entire range from the most severe Kanner’s to its mildest Asperger’s syndrome.

Once we can identify the causative factor(s), and understand how the neurodegenerative changes develop, we can then apply the biomedical therapy. These causative factors could have taken effect in the womb and persisted through infancy and childhood. For example, the child’s mother could have transferred toxic element(s) like mercury and chemical from dietary sources. Or, due to the lack of certain crucial nutrients in the mother’s diet, the child could have been deprived of appropriate nourishment for proper brain development.

The immune system

The first fundamental cause-effect in autism is a weak immune system. The child could have inherited a weak immunological defense. Or, the immune system could have been weakened by a previous infection or mercury toxicity. A weakened immune system makes the child susceptible to developing allergies. It also disables the child’s defense against infections such as intestinal infections due to fungus, virus and bacteria. This is especially important in the defense against the brain and intestinal pathogens.

Toxic load

The second fundamental defect in autism is the child’s inability to clear toxic load (high or relatively high) from the brain, liver and intestinal regions. In an ordinary child, this would have been a normal task. Toxic metal and chemical overload has an accumulative neurotoxic impact on the child over time. That is why autism often expresses itself gradually and therefore been identified later, usually in the second or third year of age.

Now we know we inherit a special protein called APO which is found in the brain and this protein is programmed to remove dangerous waste products like mercury. APO comes in three varieties:

  • APO-E2 which carries two atoms of mercury out of the brain;
  • APO-E3 which carries one atom of mercury out of the brain; and
  • APO-E4 which carries no atom of mercury out of the brain.

The genes we inherit from each parent determine which two we have. People with two APO-E4 proteins – and therefore having no APO-E2 or APO-E3 – have a higher chance of autism. The Metallothionein protein, another inherited heavy metals waste removal system, is found primarily in the liver and the intestinal region. This protein has a tremendous affinity for mercury. As mercury enters the body – through inhalation, ingestion or injection as vaccines – it envelops the mercury to form a mercury-metallothionein complex which is then excreted as a toxic waste. It thus protects the body from harm.

Digestive dysfunction

The third fundamental defect in autism is digestive dysfunction. This dysfunction could be a primary or a secondary defect and this is further compounded by fungal overgrowth and the development of allergies. The secondary defect could well be a result of the first fundamental defect of his weak immune system. The final stage of digestive dysfunction is the damaged or permeable mucosal membrane. This leads to maldigestion, malabsorption and malfunction.

Certain dietary proteins like casein (milk protein) and gluten (protein from wheat and certain other grains) are incompletely digested and they remain as peptides grades. When absorbed, these peptides block the transfer of messages between neurons. Other peptides may provoke allergic problems. Malabsorption may lead to nutritional imbalance and deficiency in certain crucial brain specific nutrients. This eventually will accentuate the severity of ASD. You can see the importance of intestinal health in autism.

Medical history

The biomedical management of autism covers several aspects. First, it is important to get a good medical history. This should include:

  • The dietary history of the mother, especially excessive intake of seafood; lack of vitamin supplements and Omega 3 fish oil; and heavy metals exposure.
  • Birth history – difficult vaginal delivery or caesarian section birth.
  • Vaccination programme and their side effects like high fever and behavioral changes.
  • Developmental milestones using CHAT (Checklist for Autism in Toddlers) diagnostic criteria.
  • Allergy history like eczema, asthma, urticaria, rhinitis
  • Digestive dysfunction like constipation, diarrhea, distension, and abdominal pain
  • Social dysfunction
  • Behavioral changes and problems

Medical tests

Next, investigate for possible factors of autism. This may be difficult in Singapore as we have no access to some of these rather specialised tests. However, the following tests can be arranged:

  • Comprehensive Stool Analysis to identify the presence of pathological infections like fungal, clostridia and parasite; inflammation; maldigestion; and balance of good flora.
  • Urine Organic Acid Test to trace possible genetic issues, presence of yeast and bacterial by-products, and cell biochemistry breakdowns.
  • Urine Gluten / Casein Peptide Test for caseopeptide and gluteopeptide
  • Blood IgG and IgE for food allergies.

Other tests that may be required in subsequent stages include:

  • Blood / Urine tests for heavy metals levels in the body
  • Intestinal permeability test

Treatment targets

Preliminary treatment is based on the initial investigation reports. The targets will be to:

  • remove and prevent all possible causative factors:
  • remove all food allergens from the diet
  • minimise further mercury toxicity from seafood and vaccines containing mercury and / or minimise aluminum toxicity (such as through baking powder).
  • treat all intestinal infection, and correct any intestinal flora imbalance.
  • reduce and stop all gluten and casein food sources.

Intestinal functions will be supported through:

  • probiotics with prebiotics (FOS) support to strengthen intestinal flora
  • digestive enzymes with proteases to assist digestion
  • omega 3 fish oil to reduce inflammation.

To support brain growth and functions:

  • omega 3 fish oil supplementation
  • high vitamin B complex especially B6 and B12, Vitamin C and E
  • magnesium, calcium, manganese, selenium and zinc
  • glutathione

Other supportive care

Once the child has improved and showed signs of receptiveness, prepare for other supportive care:

  • Occupational therapy
  • Sensory integration therapy
  • Speech therapy
  • Osteopathic manipulation therapy
  • Behavioral therapy with Applied Behavior Analysis (ABA)
  • Others

Once the intestinal integrity is achieved, consider mercury chelating. Throughout these periods, the child’s progress is routinely monitored at each visit and at all junctures of therapeutic intervention.

Remember that the child’s parents and siblings also need emotional and psychological support. Enroll the family into organizations that support Autism, such as the Autism Association Singapore and Autism Resource Centre. The autistic child needs continuing support, further education and independence learning. There are now establishments for them.

The research is on-going and treatment protocols are adjusted as new information come to light. While autism is still considered incurable based on current knowledge, it is certainly treatable to the extent that other standard therapies become more viable.

Dr. Ang Poon Liat

MBBS, M.Med (Paediatric), MRCP (UK Paediatric), FAMS, MD

Senior Consultant Pediatrician