by Paul C. Lee, M.D.

As Western-medicine-trained physicians, we have historically known autism as an incurable disease, with no treatment. So, why bother diagnosing these children?
With alarming increase in the incidence, much research is underway. Recent studies show that many of these children have co-existing medical (physiological) conditions that need to be addressed. This is an emerging field, lacking clear-cut treatment protocols, and much of it sounds “alternative” to most of us, therefore seemingly dismissable. However, despite the lack of proper evidence-based approach, there is much anecdotal and circumstantial evidence that some of these treatments can be very effective. Most physicians, who have spent some time researching this “medical treatment” aspect of autism, will agree that they are worth a trial. (Some of them are presented further on.)

One important fact is that Autism Spectrum Disorder (ASD) seems to be composed of multiple diseases presenting with similar symptoms, so there is not one treatment that works for everyone with ASD. The extreme variability demands a highly individualized treatment plan, and sorting through this even for one child can be a monumental task. Working with the parents, and strongly encouraging them to become their child’s own case manager, might be the best conceptual approach. It’s also important to keep in mind that many of these parents are already overwhelmed with the child’s needs. As of this writing, plans are being developed to initiate a nurse case management system.

Many researchers now believe that ASD is triggered by an autoimmune process, affecting multiple systems including the GI tract, the brain and the liver. Significantly elevated levels of auto-antibodies against multiple antigens, including Myelin Basic Protein (MBP), have been detected in ASD. GI endoscopy studies have shown significant numbers of esophagitis, duodenitis, colitis and lymphoid nodular hyperplasia. The majority of these children have allergies or sensitivities to milk products. Over 90% has been shown to have very low sulfate levels. Phenol-sulfur-transferase (PST), thought to be a key mechanism in detoxification, has been found to be very low in most of these children. Glutathion peroxidase and superoxide dismutase (important in antioxidant mechanism to inactivate free radicals) were found to be significantly lower than in controls.

It is thought that many of the “autistic behaviors” are manifestations of physiological conditions. For example, head-banging and sleep disturbances may be responses to inexpressible pain. Addressing the physiological abnormalities likely will result in significant improvement in autistic behaviors, and consequently more effective educational interventions. There may be a role for SSRIs and antipsychotics for a small number of children unresponsive to other interventions, but most of these medications are not approved for use in children.

Referral to Early Intervention is essential. Educational programs can have profound effects, especially when combined with medical interventions that improve attention and behavior.

Top 3 Medical Interventions to Consider (Parents might ask about…)

  1. GI Tract: Many children suffer from diarrhea, constipation, esophagitis, gastritis, duodenitis, and colitis, which may be responsible for a variety of symptoms such as abdominal pain and nighttime awakening. Many are also found to have yeast over-growth in the gut. Try elimination of dairy (milk products), since there is convincing evidence that a large number of these children have milk allergies or sensitivities. Gluten sensitivities are also quite prevalent, and eliminating this (more difficult to do) may be worth a trial. This is referred to as GF/CF (Gluten-free/Casein-free) diet (see below). Opioid excess theory also supports this diet. Use of anti-fungal medication may be considered, if stool culture documents yeast over-growth. Unfortunately, not many GI specialists are on-board yet with evaluating and treating children with autism. The LADDERS program at Harvard may be a resource for referral plans.
  2. Detox: There is good evidence that the detoxification pathways are impaired in many of these children. Sulfate plays an important role, and about 90% of autistic children have very low levels, which means that they have difficulty eliminating toxins taken in, or generated within. Sulfate is also crucial in the health of the GI tract. Replacing sulfate with magnesium sulfate (epsom salt baths) may help.Heavy metal accumulation may play a role as well, but chelation therapy should only be considered after careful testing. Reducing toxin load will likely benefit these children. Toxins may be environmental (insecticides, herbicides, mercury, arsenic, automobile fumes, etc.) or household (formaldehyde, cleaning agents, volatile organic compounds, lead, phthalates, etc.). Also consider reducing intake of phenol-containing food products (phenol-sulfur-transferase deficiency), such as apples.
  3. Oxidative Stress: Methylation pathways and other anti-oxidant mechanisms are frequently found impaired. Diminished ability to inactivate free radicals might have significant CNS effects. Vitamin supplements should be recommended, especially since many children with autism have severely limited diets. Reducing the intake of highly processed food (high in free radicals) is indicated as well. Due to the extreme variability of this disease, each child will require a different treatment plan, and there is no solid medical test to assess the efficacy of these interventions. However inaccurate and subjective it may be, relying on parents’ reports on behavior changes might be the only option. Fortunately, many parents are very perceptive to the changes in their children’s behaviors. With the trial-and-error method, it is important to stress that the treatment change be implemented one at a time, and that parents keep a written log. Good luck, and keep the hope alive.

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2. Buie T, Pediatric GastroEnterologist, Harvard, Massachusetts General Hospital, MA . Gastrointestinal function of children with autism Initial Autism Research Findings.
3. Knivsberg AM, Reichelt KL, Hoien T, Nodland M. A Randomized, Controlled Study of Dietary Intervention in Autistic Syndromes. Nutritional Neuroscience, 2002 Vol 5 (4), pp 251-261
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