The most recent study from the Seaver Autism Center at Mount Sinai draws a possible link between the genetic abnormalities attributed to autism spectrum disorder (ASD), and dysregulation of the mechanism by which unused neural connections are pruned during development. This information builds upon prior discoveries at the Seaver Center, which identified three kinds of genetic mutations that are believed to contribute to autism risk: de novo mutations; recessive or X-linked mutations; and small chromosomal abnormalities.
In other news, the Seaver Center is conducting a trial to determine whether insulin-like growth factor-1 (IGF-1) can serve as an effective treatment for ASD patients with mutations in the SHANK3 gene—one of the strongest genes for ASD. IGF-1, approved by the U.S. Food and Drug Administration, has been effective in reversing synaptic and motor deficits in SHANK3-deficient mouse and rat models. The Seaver Center is now planning to begin an additional trial to see whether IGF-1 is effective in ASD patients without SHANK3 deficiency.