You Asked: What Is Autism?

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    Mega Doctor News

    Autism is complicated. Its definition is complicated. Its cause is complicated. Its diagnosis is complicated. Its treatment is complicated.

    What people refer to as “autism” is actually any one of a number of mental disorders that can make it challenging for a person to communicate with, relate to, or behave in a “typical” manner around other people. “Autism is a rather subjective phenotype that relates to an individual’s behavioral challenges, which are difficult to measure,” said Vytas A. Bankaitis, Ph.D., the E.L. Wehner-Welch Foundation Chair in Chemistry at the Texas A&M College of Medicine.

    Indeed, autism is not just one disorder. “It presents itself as a number of conditions collectively known as autism spectrum disorders (ASDs), which affect about one in every 68 children, with five times as many males than females being diagnosed,” said Zhigang Xie, Ph.D., an assistant research scientist at the Texas A&M College of Medicine.

    Some with autism are able to live and function in the professional world, while others will require life-long assistance. However, the personal impacts of living with autism are not the only obstacles. “The social costs of ASDs are huge,” Bankaitis said. “The estimate is that by the year 2025, in the United States alone, ASDs could cost about half a trillion dollars per year.” The economic costs were approximately $265 billion in 2015.

    Causes

    The cause of autism has not yet been determined, but it is important to note that researchers agree that the best available evidence indicates that vaccines have shown no evidence of causing autism.

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    The neocortex in the brain is made up of billions of neurons that have to make their correct contacts to function properly. Like any complicated machine, subtle defects can change how the machine works. “Each human has their unique behavior, and that reflects the wiring of the brain,” Bankaitis said. “If certain wiring differences are amplified, then you can get abnormal behaviors.”

    Autism does run in families, so there is a genetic link to it. There are about 30 genes currently associated with autism. This is only a small fraction of the likely total—some estimate that up to 1000 genes may be eventually linked to autism, according to Bankaitis.  In most cases, there is no currently available genetic test that can give parents accurate information that forecasts autism risk because the genetics associated with autism risk are complex.

    Researchers are still looking into environmental contributors to ASDs, and it is becoming increasingly clear that environmental factors will play significant roles. The health of the mother, fetal oxygen supply during birth or injuries are thought to potentially induce autism, but they will not always lead to autism in every child.

    Symptoms

    “Autism is typically diagnosed between the ages of 2 and 3 when you can observe behaviors, but that does not mean the event that lead to the autism occurred during that time, Bankaitis said. “Researchers are trying to pinpoint the developmental stage in which the triggering event likely occurred. In fact, our work suggests that the seeds of autism risk are already sown early in pregnancy for women with low carnitine levels carrying male babies with TMLHE mutations.”

    Diagnosis

    Early treatment, ideally before the child turns 3 years old, is key to addressing the complications that stem from an ASD diagnosis, which is why guidelines call for children to be screened at nine, 18 and 24 months, with more screenings to follow if the child continues or begins to demonstrate worrisome behaviors.

    Treatment

    There is no medical treatment for autism. Therapies can assist in managing autism symptoms and enhance a person’s ability to socialize and engage with others.

    “Research has come a long way toward determining the cause and treatments for autism,” Xie said, “but we still have much to learn, given the complexities of the disorders and the inherent complexities of the brain.”

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