Autism answers: A married couple's mission

One in 88 children born today will be diagnosed with autism.

COLUMBIA (WACH, IVANHOE NEWSWIRE) -- One out of 88 children born today will be diagnosed with autism by the time they are 8-years-old.

A married couple from San Diego, who happen to be two of the countryâ??s leading autism researchers, are working to help kids dealing with the disorder.

â??What we discovered recently is that the child with autism has 67% more brain cells,â?? says Dr. Eric Courchesne, Professor of Neurosciences at UC San Diego.

Those cells are in the pre-frontal cortex of the brain. Thatâ??s whatâ??s in charge of social, emotional and language functions. Doctor Courchesne believes something happens in the second trimester when brain cells are being formed.

His wife, Dr. Karen Pierce is attacking the problem in two ways. She developed an eye-tracking test and uses imaging to show abnormalities in childrensâ?? brains.

The earlier the diagnosis, Dr. Pierce says the earlier the treatment.

Autism is a developmental disorder that appears in the first three years of life, mostly affecting boys. It affects the brainâ??s normal development of social and communication skills.

Full transcript of interview with Dr. Karen Pierce, Assistant Director of the University of California, San Diego, Autism Center of Excellence and Associate Professor of the Department of Neurosciences.

How old were you when you started your specialty?

Dr. Pierce: I was nineteen years old. I started as an undergraduate at Stony Brook University in New York.

What got you interested at nineteen?

Dr. Pierce: To be honest it was a little bit random at that age. My roommate told me to do a research assistantship and I loved working with kids. So, on my first day in the lab I found out that it focused on autism and it specialized in a small subset of children that had no communication skills and as a result were severely aggressive. So, it was a really interesting population of teenagers. Itâ??s a really funny story. It was my first day of work and they were taking this one teenage boy, his name was George, out for ice cream because he had gone a whole week without punching anyone in the face or doing something aggressive. I went up to the front with him and we were looking at ice cream. All of a sudden he turned around, wham, he punched me in the face; I was out cold. The graduate student ran over to me and said, â??Karen donâ??t look at him, donâ??t yell at him, donâ??t even cry because you might reinforce the behavior.â?? So they thought I was never coming back, but I went back the next day and I was really intrigued. Autism is a very interesting disorder.

Did you even really hear of autism before that?

Dr. Pierce: No I didnâ??t even know what it was. I had to go to the library and look in an encyclopedia what it was. Thatâ??s how long ago it was. I donâ??t want to date myself, but thatâ??s how long ago it was.

After working all these years with kids what do you think when you think autistic kids?

Dr. Pierce: I think of how they are just so wonderful, lovable, and honest. You feel like itâ??s a child that really needs your help because they donâ??t have a voice of their own. They need someone to have a voice for them. I feel this sense of protection.

Is that what motivates you every day?

Dr. Pierce: It really does.

Can we talk about the eye test?

Dr. Pierce: I have a very big translational focus. I try to do something in the laboratory that will have an immediate impact on people living with autism and their families. I started out in the field of treatment and then I moved in to neuroscience. Now I do an interaction between neuroscience research and clinical research. So my goal is to try to identify autism at the youngest ages possible because I think that early identification is going to lead to early treatment, which is going to lead to a great benefit. How do you identify autism at the youngest ages possible? We have some good paper and pencil screens, but that is not enough. Itâ??s just going to tell you that your child is having a delay and there are lots of evaluations and itâ??s a very complicated process. So what can we do to help that process along? I developed this eye tracking test, something I call the geometric preference test for autism, where a baby watches a movie and itâ??s just a one minute movie and it shows children dancing and moving around on one side and then the other side of the movie shows geometric shapes moving around in repetition. A typical baby when they watch this movie theyâ??ll look back and forth, but they pretty much settle on the social side. They like to watch the children jumping around and moving their arms around. Babies at risk for autism and toddlers with autism spend more of their time looking at the repetitive geometric shapes; however, not all of them. This test will catch around forty percent of toddlers with autism, whereas, the remaining sixty percent look at the social side just like a typical baby does. Itâ??s this robust subgroup and I say robust because developmentally delayed kids donâ??t do this. Children with other disorders seem to be specific to autism. It catches a good percentage, but it doesnâ??t catch everybody. Weâ??re working on additional tests to try to catch that.

What age is the test for?

Dr. Pierce: Well weâ??ve been researching this test in children between 12 months and 42 months of age. Itâ??s been successful at young ages and itâ??s a really nice dovetail with a big project that weâ??ve done at our center, something I call the 1-Year Well-Baby Checkup Approach. I started a campaign in San Diego and I worked with a 170 pediatricians. Iâ??ve gotten them to screen for autism and other developmental delays using a simple pencil and paper screen. Mom goes to the doctor and checks in for the one year exam. Then, the receptionist says fill out this screen please and she fills out the screen. She will hand it back to a nurse and the nurse will score it on the spot, and write a number down. The doctor does the exam and will look at the chart and will be able to tell if the baby passed or failed. Itâ??s a great starting block for the doctor to decide whatâ??s going on with this baby. In San Diego, they come to our center and we do brain scans and blood samples; we do everything because weâ??re trying to find a biomarker for autism. We also do my eye tracking test. So, thatâ??s how weâ??ve tested it on several hundred children between 12 and 42 months and weâ??re thinking that will just be a really nice two tier approach. We do the screen with mom in the doctorâ??s office. Then, if the baby fails, they can come to a specialized center to get this eye tracking test that takes just one minute. Right now itâ??s about 99 percent accurate.

Youâ??re going to combine that right?

Dr. Pierce: Thatâ??s right. We want to combine that with my concept. I call it the 1-Year Well-Baby Checkup Approach. Right now the CDC is showing that the mean age of diagnosis of autism nationally still is around four years in age. We know thatâ??s really too late. Thereâ??s a lot of plasticity in the brain; itâ??s really malleable at young ages. If you identify early and treat early, you have the best chance to affect outcome. Iâ??m focusing on one year, I want people to think of autism as something you can find and detect by around the first birthday in many cases because the earlier you identify the better prognosis for the child. In Sand Diego, we are working with 170 pediatricians. Weâ??ve gotten them to adopt a simple broadband screen called the CSBS. It was developed by Amy Wetherby and colleagues. The receptionist hands it out at the 1st year checkup. If the baby fails, they know they should probably get developmental evaluation for this child. So we do the one year baby checkup approach and then they come in and do eye tracking tests. We take blood samples and do brain scans because we want to find a robust biomarker. My eye tracking test finds forty percent, but we really want to find a hundred percent of kids and we want to make everybody aware that the one year mark is a really important age to try to start identifying autism.

Can you find those biomarkers by one year?

Dr. Pierce: There are some. Our center is on to quite a few. Weâ??re looking at different levels of markers in plasma; we have different gene expression profiles. Tiziano Pramapro is doing a lot of the gene expression work and weâ??re finding that there are profiles in the blood genes that are in certain pathways that regulate the number of brain cells that a baby will have that regulate DNA damage repair, like how well cells can fix themselves. So there are different signatures that you can find in the blood and weâ??re narrowing down on ways that we can make that one of our tests as well that could help identify autism early.

Is that what youâ??re focused on next?

Dr. Pierce: One of our next major frontiers is looking at brain-outcome relationships. We also do whatâ??s called sleep MRI. We want to look inside the brain because autism is a disorder of how the brain grows and how the brain functions. Normally if a baby had to go get a brain scan a doctor would just order an MRI and they would put the baby under anesthesia. Well, we donâ??t want to do that at our center. So what we do is sleep MRI. We tell the parent get their child really tired and come down for a brain scan. The baby is sleeping and we take structural images and functional images. We can look at how the brain is functioning. We actually put headphones on the baby and we read them a bedtime story. While theyâ??re sleeping we check to see if the language centers of the brain are being activated in a typical way. When a typical baby hears a bedtime story, even during natural sleep, the left side of their brain in a region called superior temporal gyrus is more active than the right side. Since thatâ??s the typical place, thatâ??s how you know language is left side dominant. Babies at risk for autism have a little bit more on the right side. If itâ??s possible to use this functional architecture to detect this signature of brain function as an early marker, itâ??s going to be great. The ultimate goal is to figure out the patterns of how the brain looks structurally and how it functions in the kids with autism who end up doing really well. We all know people with autism whoâ??ve gone on to college and to have relationship; theyâ??re the success stories. What makes them different? Itâ??s really hard right now to tell in babies. Thatâ??s why weâ??re doing lots of our brain imaging work and blood work. Everything that we do is to try to identify biomarkers to get the kids in to treatment early, but also to figure out how these kids look so we can figure out whoâ??s going to do well. If we find somebody with a signature that says theyâ??re probably not going to do that well, we will try to make a new intervention for those kids.

You were recognized by Time Magazine?

Dr. Pierce: I was nominated as Time Magazineâ??s top one hundred most influential people of the year. Itâ??s really not me itâ??s, itâ??s my early identification research on autism. I believe itâ??s the first time an autism researcher has been nominated. Itâ??s really a vote for autism. Itâ??s kind of nice; itâ??s a time to focus on this disorder. Thereâ??s been more fundraising, more awareness, more services for kids in schools, and more treatments. So I think itâ??s a nice honor for the field in general to get this nomination and thatâ??s what it means to me. Itâ??s a voice for autism so Iâ??m super excited about it.

Can I ask you how old are you?

Dr. Pierce: I am forty-three.