Autism: an overview

Dr. Leo Kanner first described autism in 1943 as a disorder where children seemed to come into the world without the usual predisposition to make social relationships. He also mentioned some other things such as language problems and trouble dealing with change.

Signs and symptoms
We diagnose autism on the basis of characteristic signs and symptoms, grouped into three areas: social problems, language and communication problems and behavioral issues. The latter includes rocking back and forth or finger flapping, resistance to change and unusual obsessions. Children with autism are often interested in the parts of things. For example, it's not uncommon for children to have an interest in dinosaurs, but a child with autism might be extremely interested in dinosaur tails. These signs and symptoms are the basis for the questions in the CHAT screening tools.

Screening tools
The screening surveys can be useful to parents or individuals who are not very familiar with autism, but the one primary diagnostic tool used throughout the world is the Diagnostic and Statistical Manual of Mental Disorders (4 th ed.). At the same time, it is important to emphasize that screeners inevitably are meant to identify children at risk and usually tend to overidentify children who can then be referred for more systematic, careful evaluations.

Diagnosis
Autism usually makes its presence known when a child reaches 12 to 18 months of age. Occasionally parents aren't concerned until a little later, but it is rare to see a child of three or four. A small number of young children seem to be developing normally but then begin to lose communication and social skills. As a society we have become much more sophisticated about autism, and many child care professionals, teachers and pediatricians are skilled in detecting evidence of the disease.

There is increasing evidence of a strong genetic component of autism although there is not one gene but a complex of probably between four and 20 genes involved. We have seen families where there have been as many as three or four children with autism.

In the general population, the incidence is about one case in 1,000. It is impossible to tell whether the number of cases is higher now because there's an epidemic of autism or because it is simply being detected more. In addition because children with autism receive more services, there may be a push from parents to have that label so their children will have access to those special services.

Early intervention
Early detection is important. There is considerable evidence, including a 200-page report from the National Academy of Science, to indicate that appropriate, early intervention results in more successful developmental progress and intellectual performance. I participated in many of the meetings and hearings that formed the basis for this report, and it is clear that earlier diagnosis and intervention make a difference for many children.

Experience has shown these children respond well to a highly structured, specialized education and behavior modification program tailored to the individual needs of the person. A well-designed intervention approach will include some level of communication therapy, social skill development, sensory impairment therapy and behavior modification at a minimum.

Several research centers, including ours at Yale, are actively investigating new approaches to the early identification of autism. Our own work includes the development of new, more physiologically based, methods for screening as well as a prospective study of infants followed from birth because they are at risk for autism because of an older sibling with the condition. Such studies will help develop better and more precise approaches to early diagnosis.

The autism spectrum
Autism is often referred to as a spectrum disorder, meaning that its symptoms and characteristics can present themselves in a wide variety of combinations, from mild to severe. Some children are able to function very well; others not at all. The more intellectual resources a child has, the better he or she is likely to do. Children with Asperger's Syndrome, a mild form of autism, are often very bright and may be able to perform complicated intellectual functions but still have maladaptive social behaviors. We encourage parents to work with these children to help them cope more effectively.

The good news is there are more effective programs to help autistic children develop to their potential. Early intervention is important, and parents who have any suspicions should consult their pediatrician who will refer them for an evaluation from a specialist if there is a need to do so.

---

Dr. Fred R. Volkmar is the Irving B. Harris Professor of Child Psychiatry, Psychology and Pediatrics at the Yale School of Medicine. He heads The Yale Developmental Disabilities Clinic at the Yale Child Study Center.