What is autism?
Autism is a developmental disorder that manifests during the first three years of life and affects the normal development of social, language and communication skills. All people with autism have difficulties with social interaction and communication. They also often show repetitive behaviors and a narrow range of interests and activities. To meet the criteria for diagnosis, a person must fit six or more characteristics from three different categories listed in the American Psychiatric Association's Fourth Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV).
Autism is not one condition but a group of conditions with many different causes, said Geraldine Dawson, chief science officer at Autism Speaks. "It ranges from severely affected -- that's a person who may not speak, needs 24-hour care and has trouble taking care of themselves -- to a person who may be married, have a job, be productive and be struggling somewhat with social awkwardness."
Some, like Martha Herbert, a neurology professor at Harvard Medical School and director of the TRANSCEND research program, thinks that the DSM-IV description represents only part of the picture. "If you're looking at the ocean, you see the ripples on the top, but you can't understand the whole ocean from the ripples," she said. Behaviors in autism, she added, are a property of altered brain and body networks -- in other words, differences in cellular function, gene expression or brain structure that manifest in behavior.
"You can see a kid having infections, allergies, diarrhea," she said. "The behaviors are part of the iceberg that's above the water. Those are emergent properties of disturbances of things you can't see with the naked eye. In order to see them you need a zoom lens or a microscope or a lab test."
What does it mean to be 'on the spectrum'?
It means that a person has presented enough of the typical characteristics of autism to meet the diagnosis, and it's affecting the way he or she lives and interacts with others.
What is Asperger syndrome?
Asperger syndrome, named after Austrian pediatrician Hans Asperger, is a milder form of autism marked by "limited interests or an unusual preoccupation with a particular subject to the exclusion of other activities," according to the National Institute of Neurological Disorders and Stroke. People with Asperger -- also known as Asperger's -- may seem socially awkward, respond in ways that seem emotionally inappropriate and have difficulty expressing feelings and reading faces and emotional cues. However, they are less likely to have speech delays and usually don't show any signs of cognitive deficiencies.
When is autism usually diagnosed?
Autism is usually diagnosed when a child is under age 5, but doctors can make a reliable diagnosis as early as 18 to 24 months. Some people with milder forms don't get diagnosed until later in life.
How is it diagnosed?
Diagnosis is based on careful observation, long interviews with the parent and medical and personal history. "You're doing specific kinds of probes to illicit certain kinds of skills," Dawson said. "With a young child, as a diagnostician, you'd try to engage the child in a social game. You use body language to gesture and see if the child follows your lead. You call the child's name and see if the child turns and responds."
Questions asked to parents during a typical interview include:
What are classic signs of autism?
At 10 to 12 months, most toddlers start using body gestures, pointing and waving. Failure to develop these gestures, make eye contact or respond to name calling is cause for concern.
Also important is the way children use toys. Doctors will look to see if a child is using toys in a "functional" way: banging a drum, stirring a pot with a spoon, moving trucks along the floor. "A child with autism will use toys in a non-functional way," Dawson said. "Taking a block and rotating it in front of their eyes. Taking a car and stirring the wheels repetitively."
As children get older and begin to enter day care or preschool settings, peer interactions become increasingly difficult. Repetitive behavior continues, such as flopping hands, flicking fingers, jumping up and down and echolalia -- repeating words or sounds.
Those are behavioral signs. What about the physical or medical problems associated with autism?
Seizures, sleep dysfunction and gastrointestinal problems, such as chronic constipation, diarrhea, colitis, abdominal pain and esophagitis are common among children with autism. Sometimes pain from these physical problems manifests behaviorally.
"There are things that kids with autism do that don't look like [gastrointestinal problems], but they are," Herbert said. "Like head banging, self-destructive behaviors. Some kids have incredible erosions of the esophagus. They're in pain all the time, and they bite themselves because they're in pain. But they may not talk, or if they do, their sensory systems may not localize the pain to tell you what's going on."
Also common is hypersensitivity and unusual reactions to sensory input, such as certain textures, tastes, smells, colors or sounds.
How is autism treated?
There is no cure for autism. But therapies and interventions can help lead to improvements in behavior. The most common treatment is early intervention that incorporates applied behavior analysis. This involves taking complex tasks, breaking them down into simple parts, and then reinforcing good behavior with reward. Some models are more play-based; others are more structured.
"One of the problems people with autism have is they don't generalize very well," Herbert said. "They have a cat, and they get to know the cat, and then they go to someone else's house who has a cat, and they don't realize it's a cat. With echolalia, they may not realize those are words that you can take apart and put together in different combinations." The pot at the end of the rainbow, she said, is to help them do things spontaneously.
"The good news is that it's been shown that children have a very positive response to these early interventions, particularly when provided at an intense level," Dawson said. "We see an increase in language ability, social skills, eating, dressing yourself and playing with other children. Many kids go on to a regular classroom. There's a lot of reason for hope when children get these interventions."
More autism resources for families
We've polled our experts to collect a list of resources on autism, ranging from data, statistics, teaching, diagnosis, treatment, medical care, resources for adults and help during the first 100 days after diagnosis.
Autism Treatment Network | A network of treatment and research centers that provide medical care to young people with autism.