New Discoveries in Autism


By Lauren Stiene | Online Reporter | SQ Online (2016-2017)

Autism spectrum disorder (ASD) is a range of disorders associated with social deficits. The neurological cause of these social deficits is not entirely known, but in the past two years there have been important discoveries about this cause.

        It has been theorized that the perceived reduced ability of autistic individuals to empathize is due to social prediction errors. Social prediction is dependent on many factors, and correct adept social prediction relies especially on the ability to empathize. Empathy is known as the emotional counterpart to Theory of Mind, which is the ability to imagine oneself in the position of another individual. Their processing of social information may be altered by the discrepancy between their predicted outcome of a decision versus the actual outcome.

        Recently, Wenderworth and Balsters, through ETH Zurich, a science and engineering University in Zurich, Switzerland; concluded that the anterior cingulate cortex (ACC) is impaired in autistic individuals. They found that there is weak neuronal activity in the ACC as well as alterations on the ACC in the autistic brain. The ACC is often attributed to the ability to empathize, as it controls much of our decision-making and emotion. Wenderworth and Balsters also found that the magnitude of social prediction errors is not dependent on the ventromedial prefrontal cortex, which is an area of the brain that plays an important role in connectivity, for autistic individuals. This is an unusual discovery because disconnectivity or impairment of this cortex is often attributed to reduced empathy and other neurological disorders. This discovery is crucial to the understanding of ASD, because it gives insight into which areas of the brain need to be further researched in the autistic brain in order to find more advanced and targeted drugs and therapies for ASD.

        In a 2015 study by Iossifov et al at Cold Spring Harbor Laboratory in New York, it was found that in at least half of all autism cases, the cause can be traced back to approximately 200 mutations that are gene-disabling. These mutations disable genes and hinder brain development. These mutations were found only in the child and neither of the parents.

         The UC San Diego School of Medicine’s Autism Center of Excellence, in conjunction with the Healthy Infant Laboratory, has a research team that is working towards discoveries in the causes of autism and new treatments for autism. In order to achieve this mission, the Autism Center of Excellence uses technology that includes functional and structural brain imaging, eye gaze tracking, and detailed genetic testing. Genetic tests can map the development of infants, including those at risk of autism. The Autism Center of Excellence strives to help parents recognize early indicators that will allow for identification and early treatment if diagnosed with ASD. In the most recent publication by the Autism Center of Excellence, researchers found through eye gaze tracking that an early biomark of a more severe subtype of ASD is the focusing on geometric images.

          Early diagnosis is crucial for the successful treatment of autism, because brains are most plastic during early development and are therefore treatment is more comprehensive. In order to ensure that individuals with autism are able to live normal lives, it is important that the areas of the brain that are affected by autism are further researched in the context of the autistic brain so that new drugs and therapies can advance treatment. The advancement and accessibility of genetic testing to parents will also increase the amount of early diagnoses of autism and allow for the most effective treatment.

 

Sources:

http://neurosciencenews.com/acc-autism-6325/

https://www.autismspeaks.org/science/science-news/study-half-all-autism-cases-trace-rare-gene-disabling-mutations

http://www.pnas.org/content/112/41/E5600.full.pdf



About

Lauren Stiene is a first year Physiology and Neuroscience major in Revelle College. She is volunteer at the Salk Institute and is also involved in AMSA and BSSA here at UCSD. She hopes to continue working in a lab and one day get her PhD. Although her hometown is in New York, Lauren loves living close to the beach and enjoys running in her free time.