Researchers have generated and characterized a genetically modified rat model of autism and intellectual disability, according to a study published in the journal eLife. Researchers report that in this novel rat model, the hormone oxytocin significantly improved social memory, attention, and nerve cell activity.

The study focused specifically on the production and characterization of a first genetically modified rat model for Phelan-McDermid syndrome, a developmental disorder with high rates of autism, intellectual disability, attention deficits, and severe language delay. One or more of these symptoms is found in up to 10 percent of children, with limited medicines available for treatment. Phelan-McDermid syndrome is caused by a mutation in a gene called Shank3, leading to a malfunction of nerve cells, especially at the region known as the synapse, where nerve cells communicate with each other.

The new model, referred to as the Shank3-deficient rat, mimics a human Shank3 mutation and exhibits deficits in a form of social behavior that depends on long-term memory, attention, and communication between nerve cells. The research team discovered that behavioral and synaptic deficits could be improved by treatment with the pro-social hormone oxytocin, which is known to be a powerful modulator of mammalian social behavior. Oxytocin was also able to reverse attention deficits that were not related to any social context, a finding that has not been seen in previous studies.

These findings provide important leads into how Shank3 plays a role in synapse development and function and, ultimately, behavior. In addition, the effect of oxytocin on reversing developmental deficits provides a tool to understand the causes of nerve cell and behavioral deficits and to develop novel treatments.