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Autism: Maybe It's Not What We've Been Told

04/29/2015 03:23 pm ET | Updated Jun 29, 2015

I felt a tear beginning to well up. As we sat on the floor, my 3-year-old little boy with autism was looking directly into my eyes, something he hadn't done in almost a year. What's more, he was smiling and calm. He seemed to be enjoying the moment. He wasn't in his usual fog. There was a clarity in his face, as if he were saying. "I'm here, Dad. I'm with you." I didn't know what to do with the moment. I just sat there. "What in the world is going on?" I wondered. I was beginning to suspect it had something to do with the antibiotic he was taking, but that didn't make any sense given what we had been told about autism to that point.

As I describe in my recent article in the peer-reviewed scientific journal Microbial Ecology in Health and Disease, our son had an unexpected, rapid, and dramatic improvement in his autism symptoms while taking a common antibiotic prescribed for his strep throat infection.

Starting on day four of the 10-day course, we saw great improvements in most of the areas where he had challenges: speech, mood, eye contact, energy level, even his gross motor skills.

One of the classic hallmarks of autism are speech delays, and our son was no exception. He rarely initiated speech and typically answered questions with one-word responses. Today he was stringing words together in unprecedented ways. He had lots of enthusiastic energy, almost hyper, which was very uncharacteristic of him. Each additional day he was on the amoxicillin brought greater improvements. On day six he did something remarkable; he rode a tricycle, which he had been unable to do since it was purchased six months earlier.

We had seen transient improvements in some of his autism symptoms before when he had a fever, but by this time his fever had been gone for several days, and we had never seen improvements of this magnitude.

Were we really seeing an improvement? Parents are very attuned to changes in their children, but memory can be unreliable, which is why I have used customized software to track changes in over 20 of my son's autism symptoms on a daily basis, virtually since the day he was diagnosed. We felt confident we were seeing a dramatic improvement. The question I kept asking was: "why?"

After the first incidents of fever-related improvements, I fell back on my training as a medical venture capitalist and consulted medical literature, where I found one Johns Hopkins paper from 2007 that documented the presence of a "fever effect" in some children with autism. Estimates are that from 30 percent to 80 percent of children with autism experience improvements in some of their symptoms while they had a fever. Was there such a thing as an "antibiotic effect" in some children, too?

I went back to the medical literature. Bingo! I found a paper published in 2000 that documented a clinical trial at Chicago Rush Children's Hospital where 8 out 10 young children with severe autism experienced marked improvements in their autism when they were given a powerful antibiotic called vancomycin.

We learned that many other parents of children with autism had experienced an antibiotic effect in their own children. So why just one research study from 15 years ago?

When our son was diagnosed we, like so many others, were told: "We don't know what causes it. We have no treatments for it."

From that meeting and subsequent meetings with neurologists and developmental pediatricians we had been led to believe that the behaviors we saw were a function of brain wiring that is ultimately driven by genes. In other words, he was "hard-wired" to be autistic. But if that were the case, why did his symptoms improve when he had a fever? Why were we witnessing such dramatic improvements while using an antibiotic? And why did so many parents report improvements from making various dietary changes? These reports and clinical studies seemed at odds with the "hard-wired" conventional view or paradigm of autism.

Something else seemed unusual: If autism were fundamentally driven by genetics, why was the incidence rising so rapidly? Genes take thousands of years to evolve. Was it really reasonable to think that autism has been around consistently at the recently reported rate of 1 in 68 children (1:42 for boys -- almost 2.5 percent) but that we had just not noticed? There had to be something else going on.

Virtually all the autism medical research funding in this country is based on the hard-wired view and goes to gene-association studies and brain scans. However, there is an emerging view of autism as an acquired metabolic (biochemical) syndrome, in which the immune system and the microbiome (primarily gut bacteria) likely play a role. From this perspective, improvements such as the ones we and others have seen made more sense.

On an almost daily basis, we read of new research pointing to the important role that the microbiome plays in health and disease, from the surprising finding that gut bacteria were responsible for stomach ulcers, to their recently-implicated role in the development of food allergies and potentially even diabetes. The old view, of gut bacteria as free-loaders who simply help us digest some food, is outdated.

Could the conventional view of autism as genes>wiring>behaviors also be outdated?

In speaking with autism researchers who were at the forefront of the gut-brain connection, most were familiar with both the antibiotic effect and the 2000 vancomycin study, and indicated an intense desire to investigate this more fully. The issue, they told me was funding. Because this type of research fell outside of the conventional view, it was not well supported by the two or three governmental and charitable organizations that fund virtually all autism research in this country.

Could this conventional view of autism be getting in the way of making progress or breakthroughs in our understanding of autism?

Due to the lack of funding for research based on this emerging view of autism as a complex metabolic syndrome, I formed the non-profit N of One: Autism Research Foundation. We are focused on research that is grounded in the view that a child's autism behaviors are not "hard-wired." But this view needs more support from the public.

It's been estimated that autism costs our country $126 billion per year. We are all paying a very high price for what we don't know.

Our son's symptoms improved while taking an antibiotic. That is anecdotal and not the basis for a wholesale shift in this country's research strategy. However, the 2000 vancomycin study is not anecdotal. It was a rigorous study conducted by highly qualified researchers at a pre-eminent, mainstream medical institution. And it is a national embarrassment that additional funding has not been allocated to follow it up. To be clear, I am not advocating the use of antibiotics as a long-term treatment for autism, but rather arguing that we should use these findings as one of many potential clues for new directions in research.

I believe we are on the verge of a paradigm shift in autism where the new view is that, while some genetic factors may be important, the underlying condition is more of an acquired syndrome that arises from externally-induced changes in metabolism, immune function, and the microbiome. The encouraging thing about this view is there is reason to believe that many of these children can get better. We need to fund this kind of research. Our children deserve better answers.

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