"Hey, Mom! Mom! Watch me! Look, Mom!” I could hear the excited cries through the closed door of the examining room, even though I was still 20 feet down the hall. The happy shouts were followed by a loud thump and then a cascade of muted crashes. As I headed toward the commotion, my medical assistant smiled and handed me the chart for this patient.
“You’d better get in to see this little guy quickly, Dr. Cohen, before he totally wrecks your room!”
The brief information on the consultation request said, “Tyler Winters, 3-year-old boy, hyperactive.” As I often tell medical students, nearly all 3-year-olds are hyperactive at least some of the time. Often the parents of a child whose development and behavior are perfectly normal insist on a referral to a developmental pediatrician like myself because they are sure there is something wrong—or someone has told them as much. I generally look forward to those consultations; it’s enjoyable to reassure an anxious parent that her child is developing normally.
Before leaving my office I had briefly looked through Tyler’s medical record on the computer. Other than his having been adopted at birth, there was nothing that stood out as unusual.
When I knocked and opened the door, Tyler was clambering onto the exam table while his mother, Sandi, was attempting to move a pile of books from the floor back onto the book rack. They had apparently been knocked off (the crashes) when he jumped from the table to the floor (the loud thump). Sandi glanced at me with a nervous smile, then quickly turned to scoop her child off the table.
“Hi, I’m Dr. Cohen,” I said. “Why don’t we go across the hall to the testing room, where all the toys are?”
Tyler immediately shouted, “Toys! Yeah! Toys!” and squirmed to get out of his mother’s grasp. She managed to hold onto him long enough for us to move across the hall into the other room, where he broke free and ran to the toy shelf with glee.
“I’m sorry, doctor. He’s like this all the time,” she said.
“Oh, that’s OK; I’m used to it,” I answered. I was about to reassure her by telling her that I’d seen some children who were so active that they took all the toys off the shelves and threw them on the floor, when I noticed that Tyler was starting to do just that.
“People tell me he has ADHD and that I should get him on medication.”
I was beginning to think the same thing, although it isn’t common for me to diagnose attention deficit/hyperactivity disorder in a 3-year-old. For that diagnosis, a child’s behavior must be significantly different from that of other children his age. But because most 3-year-olds are hyperactive, one with ADHD may not look very different from his friends. Then again, sometimes the ADHD symptoms are so severe that the child clearly stands out as having excessive impulsivity and hyperactivity. This might be one of those cases, I realized.
“Hey, look, Thomas train!” Tyler held the toy high above his head, then slammed it into the table. “Crash! Thomas crash!” he cried, laughing furiously.
This looked like a pretty clear case of ADHD. But then he stopped moving long enough for me to get a good look at his face, and his features told a different story. This wasn’t going to be so simple. It was time for me to get back to the basics of medicine: history and physical exam.
“What do you know about his birth mother?” I asked Sandi.
“Not much. We know that she was in her late teens and didn’t have much prenatal care.”
“Did she use any drugs or alcohol?”
“People said she did both drugs and alcohol, but the drug tests were negative on both her and the baby,” Sandi replied. “The doctors told us that he was born full term, but he weighed only about four pounds at birth. He went right from the hospital to foster care with us, and then we adopted him about a year later. He was always incredibly active. We kept hoping he’d grow out of it, but it hasn’t happened yet.”
What I had observed when I looked at Tyler’s face was that his eyes appeared small and his upper lip was quite thin. The distance from his nose to his upper lip was longer than average, and the philtrum (the vertical groove below the nose) was flattened, with a near-absence of the ridges that result from the fusion of embryonic elements of the face in this area. In addition, Tyler was quite short for his age, and his head seemed small relative to the rest of his body. His appearance triggered a tentative visual diagnosis. I had seen faces like this before, and the rest of the picture—hyperactivity, shortness, small head circumference, and a mother who may have abused alcohol—was consistent with my clinical impression. This boy might have fetal alcohol syndrome (FAS).