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Breakthroughs in Diagnosing, One Day Preventing Autism

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New research says it's possible to help diagnose autism in babies as young as a year old, and an early diagnosis could allow for earlier intervention or potentially stop a child from developing autism.

Autism typically isn't diagnosed until a child starts to show delays in talking and other milestones that occur after age 2. A study published in this month's Current Directions in Psychological Science says the medical community has new clues about what to look for in even younger children.

For example, children who will later develop autism are less likely to show "joint attention behaviors"—paying attention to both a toy and another person. They are also less likely to imitate, said Brooke Ingersoll of Michigan State University, who wrote the journal article.

If they don't imitate, that could explain why they have difficulty with language later, Ingersoll said. "If there's some early disruption in these mechanisms that are involved in social learning, the children have many fewer opportunities to learn about their environment."

Because social learning is so important, some psychological scientists are trying to develop ways to work with toddlers who show early signs of autism. One intervention called reciprocal imitation training involves a therapist playing with a child by imitating what the child is doing, then encouraging the child to imitate her. "We try to teach them, 'Imitating other people is this great social thing'," Ingersoll said. These techniques are also taught to parents to practice at home.

Early results have been good, although the studies on several of these interventions won't be finished for a few years. "I think there's a lot of hope that if we can figure out the right behaviors early enough, and intervene early enough, we may be able to prevent the development of autism."

Diagnosing Autism in Those With Down Syndrome

Separately, a 16-year study confirmed for the first time that the Diagnostic and Statistical Manual of Mental Disorders, or DSM, the gold-standard for the classification of mental health conditions, can be used to accurately identify autism spectrum disorder in children with Down syndrome.

While parents may notice that their children with Down syndrome display behaviors that indicate something else is amiss, and some estimate that 10 percent to 15 percent of children with Down syndrome are affected by autism, too, the dual diagnosis has been questioned.

Researchers at the Kennedy Krieger Institute hope that their results provide the evidence clinicians need to make the dual diagnosis—and then work with those affected on both.

"Based on our findings, I encourage parents of children with Down syndrome who display difficulty with social interaction to ask their providers about the presence of autism or other intellectual disabilities," says Dr. Walter E. Kaufmann, senior study author and director of Kennedy Krieger's Center for Genetic Disorders of Cognition and Behavior. "Our results will significantly help clinicians ... in developing more targeted educational and intervention services for children with Down syndrome."

Researchers also made one unexpected finding: Down syndrome patients with severe autism behaviors were much more likely to have experienced a later onset of autism. More studies are needed to determine the cause of this phenomenon, which may provide a glimpse into the genetic associations behind autism and Down syndrome.

Other Developments in Diagnosing Autism

Autism alone is complicated to diagnose, and a new curriculum for pediatricians developed by the Centers for Disease Control and Prevention hopes to make that task easier. "Autism Case Training, A Developmental-Behavioral Pediatrics Curriculum" will educate future pediatricians on the basics of identifying, diagnosing, and managing autism spectrum disorders through real-life, case-based scenarios.

The curriculum, available by emailing ActEarly@cdc.gov, is a flexible, interactive learning tool that emphasizes practical skills for patient and parent interaction. The curriculum consists of seven case-based studies that can be taught individually or as part of a series.

"Pediatricians need to be involved in the identification, diagnosis, and treatment of autism spectrum disorders," said Dr. Georgina Peacock of CDC's National Center on Birth Defects and Developmental Disabilities, one of the lead creators of the training. "To do this, pediatricians need to build knowledge and skills so that they can support their patients and families."

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