Just as No Two People are Exactly Alike, Neither are Autism Symptoms

autism brain

Some recent findings by university scientists shed more light on the genetics associated with different autism symptoms.

Columbia University Medical Center has been doing research to discover if there are connections between the different ASD symptoms and genetic mutations. This research was completed by analyzing data from hundreds of autistic patients in clinical studies. The data was gathered by the Simon’s Simplex Collection, which contains genetic samples from 2,600 families in which one child is affected with autism spectrum disorder, but the parents and siblings are not.

Columbia graduate students and Dr. Vitkup, who is the Associate Professor in the Center of Computational Biology and Bioinformatics, came to the conclusion that the more severe outcomes of the disease were linked to those genetic mutations that were most damaging.

Autistic individuals are high functioning tended to have milder mutations that do not completely shut down gene functions. Genes that are mutated in the brain are usually tied to low functioning verbal and/or nonverbal skills.

It has been discovered in the past that ASD is more common in males than in females, and this study, Columbia University researchers also found another interesting connection from this knowledge. Even though males tend to be diagnosed with ASD more frequently, it was found that the females that have autism spectrum disorder tend to have it more severely than boys. Their genetic mutations are more apparent in the bain than they are for males, which cause more severe symptoms. This discovery led Dr. Vitkup to believe that females may have some type of protection mechanism that prevents them from developing ASD.

The Columbia researchers found that the neurons which are most affected by ASD tend to be the striatal and cortical neurons in the brain. These neurons are in charge of behaviors and motions that are repetitive and involve restricted interests, which are common characteristics exhibited by those with autism. Now, researchers need to find the circuits and networks that are involved with these neurons in order to better understand autism and hopefully to find better treatment.

Amanda Meade, Queens University of Charlotte

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