Stanford researchers, including ASF Grantee Alex Shcheglovitov, discovered a key mechanism underlying Timothy syndrome, a disorder associated with ASD.
"A variety prenatal insults are associated with the incidence of neurodevelopmental disorders such as schizophrenia, autism and cerebral palsy. While the precise mechanisms underlying how transient gestational challenges can lead to later life dysfunctions are largely unknown, the placenta is likely to play a key role. The literal interface between maternal and fetal cells resides in the placenta, and disruptions to the maternal or intrauterine environment are necessarily conveyed to the developing embryo via the placenta. Placental cells bear the responsibility of promoting maternal tolerance of the semiallogeneic fetus and regulating selective permeability of nutrients, gases, and antibodies, while still providing physiological protection of the embryo from adversity. The placenta's critical role in modulating immune protection and the availability of nutrients and endocrine factors to the offspring implicates its involvement in autoimmunity, growth restriction and hypoxia, all factors associated with the development of neurological complications. In this review, we summarize primary maternal-fetal interactions that occur in the placenta and describe pathways by which maternal insults can impair these processes and disrupt fetal brain development. We also review emerging evidence for placental dysfunction in the prenatal programming of neurodevelopmental disorders."
Dr. Gabriel Dichter presents a new review of fMRI research in ASD, noting common themes of atypical activation and functional connectivity in the brain.
Researchers link Fragile X syndrome protein to 93 genes that have been implicated in ASD. Lead investigator says the findings may lead to more detailed genetic tests.
Researchers find increased activation to social stimuli in brain regions involved in social perception in two children with ASD after pivotal response treatment (PRT).
Unpublished data presented at the 2012 Society for Neuroscience annual meeting show at least 30 genes show altered expression in brain tissue of people with autism. The ongoing study aims to include more samples than previous postmortem studies, and includes samples lost in Harvard’s freezer malfunction.
This imaging study led by Carnegie Mellon researchers suggests adults with autism have unreliable neural responses when presented with basic sensory information.
