AAP 2011: Doctor, Is It Autism?

One of the first sessions on Day 2 in Boston featured Kathryn Ellerbeck, MD, FAAP, and Catherine Smith, PhD talking about the difficulties in diagnosing children with autism.

This is certainly not a new topic or concern. But it is definitely a unique one; it almost seems that autism spectrum disorders get more complicated as more individual patient data is collected. The process for diagnosing a child with autism is so individualized and has the potential to contain so many variables that it can make diagnosis incredibly difficult.

One thing that is for certain is that diagnosing and treating children with autism truly takes a team effort. Pediatricians play a very important role in this process; however, they must rely on key information from parents and teachers. Social skills need to be monitored and external factors (such as family relocation, divorce, etc) need to be considered in a child’s behavior. Another important part of the process is having children evaluated in person; as attendees learned in the session this morning, symptoms and descriptions look much different on paper than they do in person and situations can be very deceptive. To illustrate this point, Ellerback and Smith presented several case studies to the attendees. Each case study was presented with a background description of the child; family histories of any medical conditions; and individual video interviews with the children.

The first child was a healthy 14-year old boy with a maternal history of anxiety and a paternal history of reading problems. Parents were concerned about child’s anxiety at age 3 and the child was diagnosed with ADHD. His habits of lying, stealing, and cheating without the regard of others; problems with blurting out things in mid-conversation; and lack of ability to make eye contact in school caused his parents to be concerned that he had autism. Everything on paper seemed to be making the case that it was a possibility, but then the presenters played the video. The child was acting very normal, answering questions very coherently, and clearly acknowledged the interviewer during the conversation. These characteristics alone certainly do not rule out autism, but the point was that the description of the child did not quite match up with a diagnostic interview. It ended up turning out that the child did not have autism and simply had ADHD and behavioral problems.

Conversely, the second case study dealt with a healthy 10-year old boy who had previously been diagnosed with ADHD. Neither side of his family had any history of mental illness or autism spectrum disorders. However, his parents were becoming concerned because he was having problems establishing connections with others and he was having some speech (stuttering) problems. That simple explanation may not have triggered concern initially, but then the presenters again played the video interview. The child made no eye contact, became fixated on a top that was on the table, and, at one, point, began to inspect his hand. He had trouble having a two-way conversation and, when asked to describe what was happening in a picture, began to describe things that were not present (he was talking about volcanoes and frogs and the picture did not have either). In the end, this child was in fact diagnosed with autism in accordance with DSM-IV criteria.

The presentation was very enlightening to attendees. Experiencing such a stark contrast in written description versus face-to-face interaction really illustrated just how complex autism spectrum disorders can be.

Stay tuned for additional coverage on autism and how the criteria for diagnosing patients with autism is going to be changing soon to incorporate new data.