A study led by researchers at UCLA showed that the brains of people with autism tend to have the same distinctive pattern of unusual gene activity, and scientists are hopeful identification of this pattern will one day lead to the development of drugs for the treatment of this difficult and challenging disorder.
Michael Kelley is the executive director of the Scott Center for Autism Treatment in Melbourne; he holds a doctorate in School Psychology with an emphasis in Behavior Analysis. Dr. Kelley says research into the genetic causes of autism is a new and burgeoning field, and that researchers are very interested in finding genetic markers of the disorder. He agrees with the UCLA researchers that further understanding may lead to the development of treatment approaches, saying “studies like this lay a solid groundwork for that possibility.”
The findings were published in a recent issue of the medical journal Nature. The scientists analyzed 251 brain tissue samples, post-death, from 97 people: 48 who had autism and 49 who did not. Most of the samples from the people who had autism showed the same “signature” of abnormalities. The study confirmed the results of earlier studies, and provides the clearest picture to date of what goes amiss in the brains of people with autism.
Experts are not completely certain what causes autism; the thought has been that there is a convergence of multiple factors – environmental, biologic and genetic – that make a child prone to the disorder. Dr. Kelley says “researchers believe that genetics and environmental factors intersect to cause autism. How or why this occurs is not understood; gaining an understanding is a future goal and hope.”
Demonstrating the likely impact of genetics is a 2014 study showing that if one identical twin has autism, the other twin has a 76 percent chance of also having the disorder. This is a dramatic finding, as the national incidence of autism spectrum disorders is only 1.5 percent.
The UCLA study offers some fascinating clues about brain development in people with autism. It appears that genes that control the formation of synapses – the point at which a signal is sent from one neuron to another – are abnormally quiet in some key regions of their brains, while genes that promote the activity of immune cells are abnormally busy. Additionally, these patterns of low and high activity were consistent from one brain to the next.
There is one other finding from the UCLA study that is potentially significant, and it has to do with two specific regions of the brain: the frontal lobe, which serves to regulate behavior, learning, personality, and voluntary movement; and the temporal lobe, which is involved in vision, memory, sensory input, language, emotion and comprehension. In people who don’t have autism, these regions “diverge” during childhood – they develop distinctly different patterns of gene activity. But this divergence fails to occur in people with autism; the culprit is thought to be a gene called SOX5.
Prior to 2013, autism disorders were recognized as distinct subtypes, including autistic disorder, childhood disintegrative disorder and Asperger syndrome. However, all autism disorders are now merged under one umbrella diagnosis of autism spectrum disorder (ASD). The autism advocacy group Autism Speaks says ASD is characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors; the signs of symptoms usually appear between the ages of 2 and 3.
Michael Kelley has a message for the community: “Parents or grandparents who have any level of concern that their child is displaying signs of autism should get in touch with a professional. Becoming informed is empowering. And it’s important that parents know that proper behavioral therapy between the ages of 2 and 4 can be very effective.” Dr. Kelley says that with such therapy, there is a 50 percent chance that a child who displays symptoms of autism in early childhood will be indistinguishable from other kids once they reach kindergarten. “Without therapy,” he says, “there is only a 2 percent chance of that good result.”
The Scott Center for the Treatment of Autism is located at 150 W. University Blvd. in Melbourne. The phone number is 321-674-8106, and their website is www.thescottcenter.org.