How does the brain develop in individuals with autism?

Geneticists at Heidelberg University Hospital’s Department of Molecular Human Genetics have used a new mouse model to demonstrate the way a certain genetic mutation is linked to a type of autism in humans and affects brain development and behavior. In the brain of genetically altered mice, the protein FOXP1 is not synthesized, which is also the case for individuals with a certain form of autism. Consequently, after birth the brain structures degenerate that play a key role in perception. The mice also exhibited abnormal behavior that is typical of autism.

Changes in scores of genes contribute to autism risk

Small differences in as many as a thousand genes contribute to risk for autism, according to a study led by Mount Sinai researchers and the Autism Sequencing Consortium (ASC), and published today in the journal Nature.

The new study examined data on several types of rare, genetic differences in more than 14,000 DNA samples from parents, affected children, and unrelated individuals – by far the largest number to date – to dramatically expand the list of genes identified with autism spectrum disorder (ASD).

Association between air toxics and childhood autism

Children with autism spectrum disorder (ASD) were more likely to have been exposed to higher levels of certain air toxics during their mothers' pregnancies and the first two years of life compared to children without the condition, according to the preliminary findings of a University of Pittsburgh Graduate School of Public Health investigation of children in southwestern Pennsylvania.

This research, funded by The Heinz Endowments, will be presented today at the American Association for Aerosol Research annual meeting in Orlando, Fla.

University of Toronto biologists pave the way for improved epilepsy treatments

Three key proteins – KCC2, Neto2 and GluK2 – required for inhibitory and excitatory synaptic communication. KCC2 is required for inhibitory impulses, GluK2 is a receptor for the main excitatory transmitter glutamate, and Neto2 is an auxiliary protein that interacts with both KCC2 and GluK2. The discovery of the complex of three proteins is pathbreaking as it was previously believed that KCC2 and GluK2 were in separate compartments of the cell and acted independently of each other.

From Undiagnosed to Diagnosed: The Journey

This is the first of multiple blog posts by Nancy LeGendre, PhD, former biochemical researcher and mother of two with Pitt Hopkins Syndrome. I consider myself fortunate to recall Julia's first year of life in blissful ignorance of any serious problems or dream-defying "detours" that might lie ahead. I recall that year as a new Mom primarily as one of delight and joyful cluelessness. Our pediatrician dismissed my initial concerns, such as delayed babbling and mildly late motor milestones at nine months as the worries of a nervous, first-time Mom.

Making the brain take notice of faces in autism

Difficulty in registering and responding to the facial expressions of other people is a hallmark of autism spectrum disorder (ASD). Relatedly, functional imaging studies have shown that individuals with ASD display altered brain activations when processing facial images.