A deficiency of the SHANK3 gene, a gene associated with ASD, results in structural and functional deficits in the prefrontal cortex. The functional and structural alterations in the PFC were linked to an impairment in social interaction in male mice.
Deficiencies in the SHANK3 gene have been linked to sleep disruptions in both mouse models and people with ASD. Researchers found patients with Phelan-McDermid syndrome, a genetic disorder associated with autism, report trouble falling, and staying asleep. In mouse models, animals lacking the SHANK3 gene had a reduction in deep sleep quality and spent more time awake when other mice were sleeping.
Researchers have derived purkinje cells from patients with TSC, a genetic syndrome that includes some ASD-like symptoms. The cells, researchers say, have several characteristics that could help explain how ASD develops at the molecular level.
Researchers have developed a new mouse model of a genetically linked type of autism. The new model helps reveal more about the role of genes and brain changes associated with the disorder.
Researchers provide new evidence for the severity of motor, intellectual and speech impairments in Phelan-McDermid Syndrome, a sub-type of autism characterized by a mutation of the SHANK3 gene.