April 2 Autism Awareness Day: Understanding Autism

Within the European Union alone, about three million people are affected by an autism spectrum disorder, which manifests itself quite differently in different people. “Autism spectrum disorders are profound developmental disorders with onset in early childhood and a chronic course,” explains Professor Gaia Novarino of the Institute of Science and Technology (IST) Austria. “They are usually noticed in the first five years of life. Characteristic of this disorder are a number of difficulties in social interaction and communication with other people, as well as repetitive-stereotypic behaviors.” Yet autism has many facets: The spectrum ranges from people with mental retardation and a lack of speech to affected individuals without a reduction in intelligence who can express themselves well in language or even have special talents, such as in high-functioning autism or Asperger syndrome.

Genetic causes and better diagnostic options

Hundreds of different genes are suspected of causing autism.   However, exactly how the underlying processes take place at the molecular and cellular level is still largely unclear. Neuroscientist Gaia Novarino and her research group are investigating various genes that could be responsible for autism. For example, she has studied the function of a gene called cullin 3 in a mouse model. The gene is considered a high-risk gene for autism spectrum disorder. The researchers discovered that a defect in cullin 3 causes brain cells to migrate more slowly to their intended location after they are formed, altering the structure of the cerebral cortex. Mice with a partially deactivated cullin 3 gene showed behavioral abnormalities similar to those of humans with this form of autism spectrum disorder, among other symptoms. The Novarino group was able to show that Cullin 3 plays an important role especially in the early phase of brain development. To better diagnose autism in children, the Italian-born professor is currently working on methods that make genetic mutations in patients easier to detect. To improve practical diagnostic options for children with autism, the Italian-born professor is currently working on methods to identify genetic mutations in patient genomes.

April 2 is Autism Awareness Day

Novarino not only studies the genetic basis for the development of autism, but is also committed to improving diagnosis and treatment options in Austria. Especially for Autism Awareness Day, which is celebrated on April 2, she wants to raise awareness and acceptance of people with autism. The increasing number of people with autism worldwide faces a shortage of specialists who can provide patients – especially children – with the best possible diagnosis and treatment. For this reason, Novarino advocates for increased efforts to further develop diagnostic and treatment options. According to Novarino, however, this requires greater awareness of autism – and not only on Autism Awareness Day: “Ambulatorium Sonnenschein in St. Pölten is an exemplary center for children with an Austism spectrum disorders, offering free diagnosis and therapy. Increased media coverage and publicity measures help to create such exemplary projects. Especially now in the current crisis, we must not forget about families with a child with autism.”