Clinical and Research Investigations

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Researchers at UCSF are using many methods to study the autism spectrum disorders. They are isolating genes that may cause crucial differences in social skills, language and behavior. They are using advanced imaging techniques to study the regions of the brain that work differently in individuals with autism and they are using stem cell and other neuroscience techniques to probe explore the autistic brain, one cell at a time.

Stem Cells

Stem cell research is among the cutting-edge techniques that UCSF researchers are using to probe the autistic brain in the search for clues that may help lead to better treatments.

At the Institute for Human Genetics, geneticist Lauren Weiss is using patient skin samples to reveal how autism genes affect neural development. These skin cells can be turned into stem cells and then into neurons and other brain cells in order to study their growth, development and function in the lab and develop potential future treatments or preventative strategies.

At the Koret Vision Center, neuroscientist Erik Ullian is using stem cells from individuals on the autism spectrum to generate astrocytes, star-shaped cells previously thought to be only gap-fillers in the brain. Ullian’s lab is studying the impact of these support cells on how synapses form in the brains of autistic patients, in an effort to uncover the causes of autism on a cellular level.

Genetics

Researchers at UCSF are using a variety of approaches to investigate the genetic causes of autism.

Dr. Weiss is searching for genetic differences to explain why girls develop autism less often than boys, whether there is interaction between genes and environmental factors in autism, and why only some individuals with certain genetic conditions show autism traits.

Dr. John Rubenstein has investigated the roles of specific genes in regulating how brain cells mature during development. His work aims to explain the mechanisms underlying human neurodevelopmental disorders like epilepsy and autism. Dr. Neil Risch is also collaborating on projects to uncover the genetic causes of autism spectrum disorders.

These genetic approaches may lead to a better understanding of the biology of autism, as well as providing improved tools for risk prediction and diagnosis.

Imaging

Autism spectrum disorders are complex and various. While they are diagnosed by patterns of behavior and language, they usually involve differences in the connections between several regions of the brain. In recent years imaging techniques—such as electroencephalography (EEG) and functional magnetic resonance imaging (fMRI)—have been a useful complement to genetic studies in learning about the causes of autism.

Imaging research indicates that autism involves a failure to develop normal connections between regions of the cerebral cortex, an outer layer of the brain where the bodies of the neurons reside. After a period of normal growth, neural circuitry in the cortex begins to lag behind the normal growth pattern, leading to a brain that may lack crucial connections between regions of the cortex. This may account for some of the deficits in language, social skills and behavior that autistic children show.

Despite these challenges, people with autism often have more activity in the back of the brain, in regions typically used for visual and spatial perception, and may use these regions to compensate for differences elsewhere in the brain.

There are still many questions about the brain differences that lead to the array of symptoms that constitute autism spectrum disorders. Many will be resolved in the coming years, as more imaging studies join with genetics and other research—leading, eventually, to more effective treatments.