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Arshya Vahabzadeh, M.D. Headshot

Autism: A Whole Body Disorder?

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In 1943, a child psychiatrist, Leo Kanner M.D., first described autism. Since then, the "blame" for autistic children that had originally been erroneously placed on parents, particularly mothers, has largely disappeared. But before it did, and with the approval of some experts, mothers of children with autism were accused of being too detached, emotionally cold, leading to the "refrigerator mother theory." You can imagine the awful distress and turmoil this created for mothers, and families, already facing enormous challenges in raising a child with autism.

Research was instrumental in dismissing maternal blame theories. What emerged was a focus on the study of the brain of youth and adults with autism. Genetic tests, brain scans, and clinical medication trials continue to reveal how the autistic brain is different. Autism has entered the mainstream of brain research, like the conditions that often accompany it, such as epilepsy, sleep disorders, movement problems, and many psychiatric disorders.

But does autism start, or stop, at the brain?

However, what if autism isn't a "primary" brain problem? What if the brain is just one of many body organs that are affected by a wider-reaching "whole body disorder"? We know, for example, that there are a variety of other medical conditions connected with autism.

Let's start with the gastrointestinal (GI) system. A recent CDC study involving over 35,000 children found that an autism diagnosis was associated with a seven times greater risk of frequent diarrhea or episodes of colitis during the previous year. A number of research groups are exploring abnormal changes in the GI system of people with autism, including the nerves that supply the bowel and other intestinal organs, and also the permeability of the intestinal wall (sometimes called the "leaky gut"). This particular CDC study also highlighted a 60 percent greater chance of asthma as well as respiratory or skin allergies in those with autism. While these findings are important, we continue to have too few studies examining the association between autism and other medical conditions.

Family members of children with autism will tell you that research is only now highlighting medical comorbidities that they have pointed out for decades. In my work as a resident in child psychiatry, I have seen that constipation, diarrhea, colitis, and food intolerances are not only common in autism, but are often difficult to treat. There is a dearth of physicians who are experienced in treating people with autism, a factor that only heightens the challenges in treating these complex medical problems. I believe that this has led many parents to turn to alternative treatments, including gluten-free or casein-free diets, with some firmly believing they have witnessed marked improvements.

What could be contributing to then heavy medical burden in autism?

Over the years there has been an avalanche of theories about the cause(s) of autism. Recently, there is evidence that some children with autism may have a malfunctioning immune system. Let's consider that view.

Firstly, in family members of people with autism, we know that there are higher rates of a range of immune related conditions, including autoimmune thyroiditis, rheumatoid arthritis, celiac disease, ulcerative colitis, psoriasis, and Type 1 diabetes mellitus. Specific immune antibodies in a pregnant mother's blood are thought to be responsible for some cases of autism in their children. These findings support an association between autism and the immune system.

The second point to consider is that people with autism may have elevated levels of inflammatory immune chemicals called cytokines in both their brain and spinal fluid. Research has shown that these inflammatory cytokines are also increased in other areas of the body, such as the GI system and the blood. One study indicated that children with autism and GI problems may have overactive immune cells and inflammation of their intestinal linings, even when compared to children without autism who have inflammatory bowel diseases.

Thirdly, some people with autism appear to have antibodies that target their own brain tissue, a finding reported by several research studies. Furthermore, increased antibodies to gluten have been found in groups of children with autism, a mechanism that might explain some of the intestinal complaints seen in these patients. Other research has shown that there may be impaired functioning of the intestinal wall in autism (the "leaky gut" wall), and also alterations in the working of the nervous system connecting the GI system to the brain, especially involving the neurotransmitter serotonin.

What does all of this mean?

Let me be clear: There is an immense amount that we do not know about autism. Autism may have a thousand different causes and be a combination of many genetic and environmental factors (see my previous piece). It does appear, however, that there is growing evidence linking autism, an abnormally functioning immune system, and a variety of medical conditions. The exact associations, so far, elude our understanding. But if there is one promising place to shine the flashlight of research it is on the immune system as a factor in autism with medical complications.

Imagine the relief ahead if we can not only understand the mechanisms by which autism is linked to medical illnesses but also find ways to prevent and treat them? Whether or not autism is a "whole body disorder," the high medical burden must prompt us to develop comprehensive services, combining psychiatry with other medical interventions, done by general practitioners as well as specialist physicians and therapists. By producing more integrated autism services, we may one day be able to deliver "whole body health care" for "whole body conditions."

For more by Arshya Vahabzadeh, click here.

For more on autism, click here.

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