"The strangest thing about my son is that he started out talking really well, and then a couple of months ago, he just stopped."
As his mother was telling me that, the 17-month-old abandoned the toy car he had been playing with, looked at me briefly, and then toddled across my office to his mother's chair. He reached for her hand and pulled on it, insistently. She got out of her chair, and he led her over to where he had been playing. The boy took his mother's hand and placed it on top of the toy car. "Oh, the wheel fell off," she said to him, as she replaced the small plastic wheel on the axle. "Here, Mommy fixed it for you."
The boy resumed his play, rolling the car back and forth repeatedly. I watched him for a few seconds, then turned back to the mother, who now sat slumped in her chair. "He does that a lot," she said. "It's like he's just using my hand as a tool or something."
Suddenly, the boy walked back to her and climbed into her lap, putting his arms around her neck. She kissed him. "And then he's just so affectionate, like this. That's why our family doctor said that he wasn't autistic. I don't know what's wrong with him. And with my husband away, it's gotten even harder to deal with him."
The boy had been referred to me because he was not talking, and he seemed to be losing some developmental skills. That is always worrisome. As a pediatrician dealing with developmental problems, I never fail to ask if a child has lost any skills, because of the devastating possibility of a rare degenerative brain disorder like Tay-Sachs disease.
I began asking questions to review the boy's mental and motor development, keeping in mind the list of reasons for a child not to be talking by the age of 17 months. The list is long, including generalized developmental delay (the most common cause), hearing loss, and muscle coordination problems.
As I questioned her, the mother described a number of behaviors consistent with autism. Her son never turned to look at her when she called his name. He did not point at objects, either to ask for them or to call his parents' attention to them. If he saw a group of children playing, he ignored them and played on his own. He did not enjoy interactive games like peekaboo or patty-cake. He had loud tantrums for no apparent reason. He would not walk on grass or sand.
Nevertheless, if I had seen this child in the early years of my career, I would have said, as did his doctor: "He's not autistic! He's affectionate, he makes eye contact with me, he doesn't get upset if his routine is changed, and he doesn't spin around or flap his arms."
When I was in medical school and pediatric residency in the mid-1970s, I learned that autism was a brain disorder of unknown cause, that most autistic children were severely retarded, that they did not speak or interact with others, and that they were somehow locked in their own world. I was taught that if a child made eye contact with me, that meant he was not autistic.
Many of those statements, like other medical maxims I once learned, seem not to be true. We know, at least for now, that autism comprises a spectrum of brain disorders that range from mild to severe. Many children with these disorders do not show any loss of mental ability. People with autism spectrum disorders do have impaired social interaction and delayed or disordered language development and use. Some also show a pattern of atypical behaviors and activities, such as repetitive or stereotyped movements, restricted interests and preoccupations, insistence on routines, and unusual reactions to sounds, textures, or other aspects of the environment.
About 25 percent of children with autism develop language normally but then lose the ability to speak sometime between 16 and 30 months of age. The condition, called regressive autism, is not known to many physicians, so they may worry about a rare degenerative disorder instead.
We do not know exactly what causes autism spectrum disorders. Research suggests they are present from birth, although the conditions may not show up clearly until later. The cause may be a combination of a genetic predisposition—a cluster of genes that set the stage for the condition—coupled with unknown prenatal factors.
After listening to the mother's story, I tried to do a developmental assessment, a series of playlike tests and observations to see how a child is progressing in his cognitive, motor, language, and social development. But he had so little interest in the type of interactive play and socialization that is typical of children his age that I couldn't complete the assessment. This confirmed my suspicion that he was on the autism spectrum.
I looked at the mother. "What do you think about him?" I asked.
Her eyes brimmed with tears. "I think he might be autistic," she said.
"What does that mean to you?" I never assume a parent's level of understanding.
"Well, I really don't know. But I know there's something different about him." Parents of children with disabilities often have tremendous insight, a quality of knowledge we doctors ignore too often.
In the past, when I made the diagnosis of autism in a child, I was devastated. I had very little to offer the parents, who had to learn to live with a child whose mind was foreign to them. But in recent years there has been a breakthrough in the care of children with autism: the recognition that certain kinds of intervention, if initiated early—before about age 3—can produce significant improvement in the ability of many children to communicate and relate to other people.
Early intervention programs for autism focus on three areas: speech and language, behavior, and social skills. In addition, certain psychoactive medications—often in doses much smaller than are used for other patients—can help to lessen difficult behaviors. This may result from improving the child's ability to process sensory stimuli, or perhaps by reducing anxiety or other emotional reactions. In addition, groups for families and organizations like the Autism Society of America can provide information and support from experts and from parents of children with similar disabilities.
"Yes, I think you're right," I said to his mother. "There is something different about the way your son's brain works. I think that he fits into the spectrum of autism, although he doesn't fit all the characteristics of autistic children. But there are things that we can do, and that you can do, to help him grow and develop and improve."
Mark Cohen is a pediatrician in Santa Clara, California. The cases described in Vital Signs are true stories, but the authors have changed some details about the patients to protect their privacy.
