The loss of the Arid1b gene interferes with brain cells implicated in signaling inhibition. Reduced inhibitory signaling has previously been associated with a range of autism-related behaviors.
Researchers have identified patterns of white matter connectivity exclusive to core symptoms of autism. The study also reveals many structural brain connectivity patterns previously believed to be associated with ASD also overlap with developmental coordination disorder (DCD).
Researchers have identified 134 genes associated with autism and a range of genetic alterations associated with ASD. Notably, the study identified changes in copy number variations with likely associations with ASD, including autism-associated variants in 14% of people on the autism spectrum.
Brain changes associated with ASD encompass more areas than previously believed, a new study reports. Researchers identified brain-wide changes in all 11 cortical regions analyzed. The greatest gene drop-offs were found in the visual cortex and the parietal cortex, a brain area associated with processing touch, pain, and temperature information. The findings shed light on sensory hypersensitivity associated with ASD. Additionally, researchers say the RNA alterations associated with ASD are more likely a cause than a result of autism.
Mutations of the PTEN gene cause neurons to grow to twice the size and form four times the number of synaptic connections to other neurons as a normal neuron. Removing the RAPTOR gene, an essential gene in the mTORC1 signaling pathway, prevents the neuronal and synaptic overgrowth associated with PTEN mutations. Using Rapamycin to inhibit mTORC1 recues all the changes in neuronal overgrowth.
Pressure chamber therapy significantly improved social skills and reduced inflammation in animal models of autism.
New machine learning models assess the connection between hundreds of clinical variables, including doctor visits and health records for seemingly unconnected conditions, to predict the likelihood of ASD in young children.
Investigating the effects of genetic abnormalities associated with autism and human brain development, researchers found brain organoids engineered to have lower levels of the ASD-associated SHANK3 gene had distinct features including neural firing hyperactivity, disruptions in pathways that cause cells to adhere to each other, and indications of ineffective neurotransmission.