Autism: From Behavior to Biology

Understanding the true causes of autism, and discovering truly effective treatments that address the underlying causes that produce it, must become a national priority.
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Co-authored by John Slattery, B.A., Clinical Trials Program Manager at Arkansas Children's Hospital Research Institute, Little Rock AR and Stephen G. Kahler, M.D., Department of Genetics, Arkansas Children's Hospital, Little Rock AR

Autism is estimated to affect one in 68 children in the United States -- almost 2% of our population. Autism is usually a lifelong disorder that starts in early childhood and continues into adult life. It affects the whole family, caretakers, the educational and medical systems, and the community at large.

Autism is diagnosed by the behavioral abnormalities that define it, including difficulties in communicating, socializing, and restricted and/or repetitive interests. However, it has become increasingly recognized that many with autism have major medical conditions such as gastrointestinal disorders, altered metabolism and immune system function, food intolerances, allergic disease, anxiety, and seizures.

Despite these insights, we still have few treatments and few clues as to its causes. This situation is changing, however, and the future looks bright because of new discoveries. As previous blogs in the Huffington Post suggest, we may be on the verge of a paradigm shift in our understanding of autism.

The Early View

Because autism has high heritability - that is, it seems to run in families, it has been regarded as a disorder with major genetic contributions. Much research over the past several decades has focused on a search for "autism genes." While many potentially problematic gene mutations have been identified, none have been found to be a major contributor to autism. Overall, only about 25 percent of individuals with autism have a well-defined genetic condition, such as Down syndrome, Fragile X syndrome, etc.

Inherited ≠ Genetic

Just because something seems to be inherited does not necessarily mean it's genetic in origin. While siblings have much DNA in common, they also share many early environmental factors. One of the most important early environmental factors is the same womb environment during pregnancy of maternally related siblings. Studies from the University of California -- Davis Medical Investigation of Neurodevelopmental Disorders (MIND) Institute have shown that mothers can have an immune reaction that disrupts the development of the fetus's brain, and lead to developmental differences that predispose the developing fetus to autism. Thus, instead of a seemingly - inherited disorder being genetic, it is caused by factors present in the mother to which the fetus is exposed. Other recent studies point to other prenatal environmental factors, including insufficient folate before and during pregnancy, which may be contributory to developing autism.

Further not all genetic changes are necessarily passed down from the parents because many times genetic changes are what we call de novo - that is they spontaneously arise within the child and are not present in the parent's genes. We do not always understand what causes de novo gene changes, but we often suspect that environmental factors such as poor folate intake or exposure to certain toxins which can increase the likelihood of new errors in the genetic code may be to blame. Beyond the simple DNA code, it is becoming well-known that changes occur in the system that control which genes are turned on-and-off, a process called epigenetics.

Recent Research

Recent research has shown that many with autism have abnormalities of the metabolic systems (chemical processes) of cells and the immune system. These are exciting discoveries as many of these abnormalities are treatable. Furthermore, there is a growing body of research that connects brain function to the trillions of micro-organisms that reside in our gastrointestinal tract (often called the "Gut/Brain Connection"). These studies are starting to reveal the intricate relationships between ourselves, our gut flora and what we eat (foods, vitamins, food additives, etc.). These discoveries have opened the doors to many treatment options, including dietary and nutritional changes that might help some of those affected.

From Behavior to Biology

We are finally moving away from characterizing autism by its observed behaviors and instead on its' core biology. We are finally beginning to learn what is not working correctly in the cells of the brain and body in individuals with autism. The abnormalities are not just confined to the brain, but can be system-wide affecting cells through-out the body. Understanding these abnormalities is pointing to ways to correct them, with many targeted treatments currently being investigated in clinical trials.

Targeted treatments can address the underlying biological problems, rather than treating the symptoms of this disease. Educational and behavioral interventions are essential, but correcting underlying problems in cellular function may significantly accelerate their effectiveness.

However, more research is needed to identify the best treatment(s) for each patient. Such research will have an enormous payoff from an economic, financial, emotional, and psychological standpoint. Not only will this provide great relief for patients and society directly affected by autism, but will also ultimately provide knowledge and understanding that can be translated into many other diseases thus creating an exponential return on the initial investments.

An Uncertain Research Funding Picture

While it is an exciting time for autism research, the autism research funding picture is not so encouraging. Unfortunately, medical research funding in the United States is at an all time low. Correcting for inflation, the National Institutes of Health (NIH, the main funding agency for medical research) has not had a budget increase in over a decade and this draws attention to a more systemic NIH funding crisis that causes problems related to the biomedical research workplace in general. This is particularly detrimental for autism research, which as a new field needs new research dollars to pursue new research areas.

Most major disorders have their own institute at the NIH, but there is no National Institute for Autism Research. Thus, there is no NIH institute to champion autism research. With many scientists competing for scarce research dollars, funding goes to well-established scientists pursuing traditional, and perhaps outdated research programs, rather than emerging, potentially breakthrough research. Money raised for autism from private and philanthropic sources tends to go toward improving much-needed services for families and patients, rather than supporting innovative research.

What Can You Do?

In order to accelerate breakthrough medical research for Autism Spectrum Disorders we suggest the following:
1)Contact your U.S. congressmen/women and senators and ask for an increase in funding for autism research and the creation of a National Institute for Autism Research using the helpful webpage here.
2)Donate to charities and foundations that fund emerging autism research focused on the underlying biological abnormalities that affect these children.

Unless we develop effective treatments based on biology very quickly, we will have a large number of individuals with autism, and the financial, psychological and emotional costs associated with their care will be immense. Understanding the true causes of autism, and discovering truly effective treatments that address the underlying causes that produce it, must become a national priority.

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