Kids and Autism

Autism Spectrum Disorders (ASDs) are typically diagnosed in toddlers or young children based on certain behavioral patterns; there is no medical diagnostic test. “There are changes in three areas of behavior that lead to a diagnosis,” Dr. Philip Schwartz, senior scientist at the CHOC Children’s Research Institute in Orange, explains. “One is communication and the others are sociability and repetitive behaviors, where the child does the same thing over and over. These children have trouble communicating. They don’t make that connection. There’s little eye contact or emotional content in their interactions with other people, including their parents.”

“The causes are generally unknown. We think it has to do with the way the brain cells communicate with each other. There is a strong genetic predisposition to autism although influences during pregnancy cannot be ruled out,” explains Dr. Schwartz. “Scientists are working to find a biological cause so we can have a diagnostic tool that is not just behavioral, like a blood test. With that knowledge, we can also develop new therapies and drugs.” There  is currently no cure for autism but behavioral therapy can help if started early.

“Scientists at CHOC are growing brain cells from skin cells. This lets us analyze in a dish in a laboratory how the brain cells communicate with each other,” says Dr. Schwartz. “We can’t analyze that in a living child. The best way to do this is to make the cells in a dish the laboratory equivalent of a brain,” he says. “This will tell us what parts of the cells’ communications are not working properly. Understanding this will give us targets for therapy.” Dr. Schwartz expects some key findings in the next couple of years.

A stem cell is an immature cell that can be made from any part of the body, like the skin, and that scientists can make into a mature cell in a lab. In research, stem cells are being used to study a host of diseases in children and adults, including brain diseases like autism, childhood metabolic diseases, Parkinson’s disease and Alzheimer’s disease.


  • Prevalence of Autism Spectrum Disorders (ASDs) in Girls: 1 in 252
  • Prevalence of ASDs in Boys: 1 in 54

View the full feature on Kids and Autism

Dr. Philip Schwartz
Dr. Philip Schwartz
CHOC Biologist and Stem Cell Research Expert


Dr. Schwartz is the director/supervisor and a senior scientist at the National Human  Neural Stem Cell Resource in the Center for Translational Research at the CHOC Children’s Research Institute in Orange. He is also an associate research  biologist at the Developmental Biology Center at UC Irvine’s School of Biological  Sciences, and he is on the adjunct research faculty in the Department of Biological Sciences, College of Natural Sciences and Mathematics, at California State  University, Fullerton. Nationally recognized for his work in the stem cell  field, Dr. Schwartz’s research focuses on the use of stem cells to understand the  neurobiological causes of autism and other neurodevelopmental disorders.

Ph.D. in neuroscience with a minor  in pharmacology
Brain Research Institute, School of Medicine, UCLA
B.S in biology and B.S. in chemistry Seattle University

More about Dr. Philip Schwartz

This article was featured in the Orange County Register on February 11, 2014, and was written by Amy Bentley.

Autism and Stem Cell Research: Past and Future

training course 1Scientists and researchers at the CHOC Children’s Research Institute continue to study Autism Spectrum Disorders (ASDs) in an effort to find the causes and develop effective treatments for these perplexing and mysterious disorders.

In one of  CHOC’s research labs, Dr. Philip Schwartz and his team, including Drs. David Brick and Omar Khalid, use stem cells made from the skin of patients with autism or ASD and turn them into brain cells to better understand the conditions.

“Autism is a brain disease, so to unravel autism, you have to study the brain. While this seems obvious, it is extremely difficult,” says Dr. Schwartz. “The fact that we now can grow a brain cell from a skin cell is a huge advance.”

Their research began in 2009, when the National Institutes of Health awarded Dr. Schwartz a $3 million grant to hunt for autism’s genetic fingerprint. Colleagues at UC Davis provided skin biopsies from 100 carefully screened autistic boys to establish a cell bank at CHOC for research use by Dr. Schwartz and his team as well as other scientists around the world.

“The goal is to come up with therapies for autism that are based on science and also to develop diagnostic tools so we can diagnose autism or ASD in kids easier and earlier,” says Dr. Schwartz. “As we do this, we can start treatment sooner.”

This research allows scientists to have a culture of a live patient’s brain cells for study in the lab without touching the brain of the actual patient. The only other way to obtain brain cells for this purpose would be to wait for a child with autism or ASD to die, and then seek a brain sample.

The technique of growing brain cells from skin-derived stem cells was developed in 2006 by Shinya Yamanaka, a Japanese scientist who won a Nobel prize in 2012 for his work with stem cells.

Scientists can study autism patients of different backgrounds to make new discoveries, says Dr. Schwartz. He noted that autism is a spectrum of diseases, not just one, and that different patients will likely react to different drugs or may require several drugs.

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