Dr. Karen Pierce is an Assistant Professor in the Department of Neurosciences at the University of California San Diego, and the Director of Clinical and Functional Brain Imaging Research at the UCSD Autism Center of Excellence (ACE). An autism researcher for over 20 years, Dr. Pierce researches early clinical and neurobiological signatures of autism. Her “1-Year Well-Baby Check-Up Approach” has been embraced by over 170 pediatricians in the San Diego area, as it provides a non-invasive screening tool for babies around their first birthday. Over 20,000 babies have been given the 24-question screen.
Jonathan Carter spoke with Dr. Pierce about her work.
You’ve developed an early detection technique named the 1-Year Well-Baby Check-Up Approach. Can you describe how you developed the approach?
For me, the motivation was twofold and contained both clinical and research roots. First, I wanted to detect autism early to get kids into treatment as soon as possible. The second motivation was purely scientific. Autism is a neurobiological disorder, and if we want to make the big discoveries about what’s going on, we have to study the disorder while the symptoms are unfolding. So I needed to figure out a way to study autism as early as possible.
But then we are left with a problem: How do you study autism during the first year or two of life if a diagnosis doesn’t come until 2, 3 or even 4? So I decided the best way to address this issue is to implement a really simple, broadband screen.
Obviously symptoms of autism aren’t glaring over the first year of life. If they were, people would be diagnosing autism at that year of age. But, there are some signs that I thought would be caught by broadband screens. There is a really excellent broadband screen developed by Amy Wetherby and Barry Prizant, called the CSBS DP IT Checklist, but the screen had never been used as standard of care in a doctor’s office before. I started with my own pediatrician and asked her if she could spend a couple extra minutes during the one-year exam giving this screen to all of her patients. She tried it and it worked well, leading the other three doctors in her practice to do it. It all started with just four pediatricians. And it worked really well with those four, so I went out and started taking with other pediatricians around San Diego. By the time I hit 30 pediatricians word had spread far enough that I began to have pediatricians calling me asking to get into our program. Today over 170 pediatricians in San Diego are screening for autism and other delays at the 1-year check up using my program.
How does the program work?
It’s quite simple: I go into the pediatrician’s office and tell them about the importance of early screening in autism. I then show and teach the staff the screening tool and how to score it.
The reason that the screen works is that it has to be done at the actual checkup. The mother or father fills out the CSBS, which is fairly short, just one page. She fills it out while in the waiting room and hands it off to the receptionist, who then hands it off to the nurse or medical assistant who grades it right then and there. This allows the doctor to look at it quickly and reveals whether the child is at risk of having delays. The score allows the doctor to probe further during the one-year exam. If the baby is showing a delay they are then referred to UCSD or other qualified location. Once they get here, we do a full, in-depth evaluation. We do the ADOS and the Mullen Scales of Early Learning to look for cognitive delays. We perform several experimental assessments such as my “geometric preference test for autism” that evaluates eye gaze patterns. We also take a blood sample to look for blood-based autism markers, and then we also do a free MRI scan to examine brain development.
Can you go over a few of the questions that are on the screen?
The first couple of questions probe for social attention behaviors. They are in the screen to identify joint attention behaviors and joint attention precursors.
There are also questions about gestures. For example: Does your child wave or point?
There are questions about language. Does your child string words together? The last part of the test addresses symbolic word and object use. How many of the following objects and words does your child use appropriately?
Because it is so simple, it appears that the screen could be administered by parents themselves without doctor oversight. Is that something your team have discussed or thought about?
We’ve definitely thought about it, but my only minor hesitation is that there is around a 25% false positive rate. It is good to be followed up immediately with a professional. If your baby doesn’t score very well there could be a lot of emotion. At this point I think its optimal that the screen is done in a professional’s office where someone can talk with the parent and then get a schedule for an evaluation as quickly as possible.
So you touched upon a 25% “false positive” rate [which means 25% of children screened have failed the screen who, after further testing, are not found to have developmental delays]. Give the nature of the test; is that number really a problem? Do you see any downside to having false positives?
I do not think the false positive rate is a significant problem. From a research perspective, the children who end up participating serve as great match controls for the kids who do have a true delay. Also, a lot of parents are curious about their child’s development so they take a couple of hours to have their child observed with a professional. When they get the results that their child is actually doing above average, they are relieved and are very happy to continue to participate. By using the approach, we evaluate kids as early as 12 months, and get them into treatment as soon as possible, with the average being 17 months. I think the benefit of our approach greatly outweighs the minor inconvenience of a few hours of testing for parents who have children who are developing typically.
Do you consider this test a replacement of the ADOS?
Definitely not. The ADOS is the tool we use once the babies arrive at our Center to help us decide whether they have language delays, cognitive delays, global development delays or whether they have autism. The ADOS is a complement to what is determined on our test. The CSBS that we use for our research is a broadband screening tool; it is not an autism test like ADOS. It just happens that 20% of the kids who fail our approach end up with an Autism Spectrum Disorder. And that’s what makes it great. You’re helping all kinds of children. You’re also catching kids that have a language delay who can benefit from therapy, in addition to autism.
[The screen] is a very a non-threatening tool. It’s a benign positive screen that is not written in a way that can cause distress. That’s why I think it’s worked so well.
”That’s how things work in life. If it works well and is really straightforward and easy to implement, then that technique is your best bet for success.” – Dr. Karen Pierce
What are the next steps for the approach?
I want to increase the precision of determining autism specifically in the pediatrician’s office. Through complementary research to the check-up approach, I have found that Babies that end up with autism show preference for geometric patterns. (Pierce, K., Conant, D., Hazin, R., Desmond, J., & Stoner, R. (2011). Preference for geometric patterns early in life as a risk factor for autism. Archives of General Psychiatry. 68, 101-109). If you show children with autism a movie with geometric patterns and social images playing, only the babies with autism will watch the movies with geometric autism. The accuracy, so far, is 100%.
Now what I’m doing is trying to figure out a way to get that geometric preference test into the doctor’s office so that when a baby fails a screening tool in the doctor’s office, they can use this tool. I’m trying to give doctors the tools and mechanisms to narrow down the diagnosis. And this will get ASD children the early support services they need.
We’re really fast here in San Diego, but I want to change clinical care throughout the United States, not just in San Diego, so I try to think of systems that can be implemented everywhere. So my next steps are thinking of what I can give the pediatrician to increase the accuracy and certainty that the babies that they are looking at have some sort of delay.
What advice do you have for parents of children with autism who have aged out of the 1-year check-up?
Age doesn’t matter. At any age that you become aware that your child has needs and can benefit from specialized treatment, then it’s imperative to jump in and develop a team at your child’s school and with other people who are knowledgeable in the area. It is never too late. Just because we are trying to detect and treat 12-month olds to 24-month olds doesn’t mean it isn’t equally important to protect and help kids who are ages 2-7. And I think sometimes those kids get a little left out. Older kids with autism can make really important gains with treatment.