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Early autism diagnosis, intervention important

by Michael Baker
Public Relations
Communication remains key to humans’ social development. A simple sentence, a shared smile, or a subtle facial expression can convey a great deal of information, and the ability to recognize and master such forms of communication begins in childhood.

But what if a child can’t communicate in a typical way?

Each April, the medical community shifts its focus to a developmental disorder that inhibits social and communicative development in children. According to Jane Charles, M.D., assistant professor of pediatrics, the effects of autism can have a significant impact long after childhood, which is why diagnosis and intervention at an early age remain so important.

“With some children, we can make a diagnosis in the waiting room—it’s that obvious,” Charles said. “But quite often, the symptoms are subtler. Many cases of autism are difficult to diagnose immediately.”

The absence of a test for autism further hinders the disorder's diagnosis. Autism can’t be detected through blood work or an MRI, and many of the disorder’s symptoms overlap with those of other developmental disorders. 

Some of the more prominent symptoms of autism concern a child’s mastery of language. Often, autistic children develop language more slowly or do not develop language at all. A child with autism also may develop abnormal language.

“Autistic children often develop echolalia, a condition that causes them to repeat things they’ve heard,” Charles explained. 

For example, immediate echolalia causes a child to mimic another person’s speech directly after the other person has finished speaking—like a game of copycat. With delayed echolalia, children repeat words and phrases they’ve heard in recent days or even months ago.

“In today’s culture, delayed echolalia stands out a bit,” Charles said. “Many children who come for diagnosis constantly repeat lines from Disney movies. We call it video talk.”

Although children typically learn to communicate through listening and repeating what they hear, the difference between autistic and non-autistic children lies in their cognitive processes. 

Charles explained the difference in terms of expressive language (language people use to express themselves) and receptive language (language people can understand). In non-autistic children, the capacity for receptive language must be greater than the capacity for expressive language.

“Technically, you can never say more than you know,” she explained.

Conversely, autistic children possess a greater capacity for expressive language than for receptive language. So while autistic children may repeat what they’ve heard, they often lack any context for or understanding of what they’re saying. 

Autism also affects joint attention, a child’s ability to make certain cognitive connections.

“If I were to point to an object in this room, most people would instinctively follow the movement of my hand. It’s called gaze direction,” Charles said. “But many autistic children can’t make that connection.” 

Similarly, many autistic children don’t respond to their names. Some children don’t even acknowledge when another person enters the room, even if that person begins to speak. For non-autistic people, it’s an almost natural reaction to show signs of alertness when another person begins to speak.

More troubling than the effects of autism is the disorder’s growing incidence.

“Three or four children out of 1,000 in the United States have autism, and the number rises every year,” Charles said. 

The reason for the rising rate remains unclear. One factor could be that the guidelines for autism have loosened in recent years. As a result, more children meet the disorder’s criteria.

“Traditionally autistic children experienced a significant amount of mental retardation,” Charles said. “Now, many people with autism exhibit all the disorder’s symptoms while maintaining a normal IQ.”

The testing methods for autism have also improved. Two especially accurate methods, the Autism Diagnostic Interview and the Autism Diagnostic Observation Schedule, are the “gold standard” for autism diagnosis, according to Charles.

But for all of autism’s improved diagnosis techniques and increasingly specific definitions, the disorder’s cause still eludes researchers. 

The working theory remains genetically oriented. Researchers often identify abnormalities in certain chromosomes, and many speculate that autism contains a link with Fragile X Syndrome, a disorder that affects the X-chromosome and commonly causes mental retardation in boys.

Furthering suspicion of autism’s genetic origins is its occurrence among siblings. Parents of autistic children have a 6 percent chance of giving birth to another child with autism. Fraternal twins have a 10 percent chance of sharing autism, and identical twins share a 90 percent chance of autistic concordance.

The federal government recently endorsed a commitment to autism research using a cooperative between the departments of Education and Health and Human Services. Within the cooperative, the Department of Education focuses on educational intervention, determining the best way to teach children with autism. The Department of Health and Human Services oversees grants by the NIH and CDC. The former examines the ideology of autism including the genetic and environmental factors in the disorder’s development, while the latter organization conducts research to determine the prevalence of autism in South Carolina and 17 other states.

Despite the genetic theories and national research, Charles admits that concrete evidence of autism’s cause remains absent. “Despite all of the factors and statistics, we can only identify the cause of autism in 10 or 20 percent of the people we see. With the other 80 or 90 percent, we have no clue.”

The lack of a starting point for autism has led Charles to assert the importance of timely intervention.

“The important thing to get across is for pediatricians to push for early recognition,” she said. “Physicians and parents need to understand how to recognize the symptoms as early as possible.”

The First Signs program in New Jersey took a major step in educating the population when it sent a video detailing the early signs of autism to every physician and parent in the state.

Once parents become aware of the warning signs, they need to take action if necessary. If your child exhibits symptoms of autism, Charles suggests immediately consulting a pediatrician. “If your pediatrician blows you off, proceed anyway,” she said. Concerned parents can call Baby Net, an organization that will conduct an assessment of the child in question, start speech therapies if necessary, and even refer the child to a clinic for an autism evaluation.

Regardless of where parents turn for help, Charles maintains that time is crucial.

“Autism is a developmental disorder, but children will develop communication skills,” she said. “But the extent of their development depends on how soon you recognize the problem.”
 
 

Friday, April 23, 2004
Catalyst Online is published weekly, updated as needed and improved from time to time by the MUSC Office of Public Relations for the faculty, employees and students of the Medical University of South Carolina. Catalyst Online editor, Kim Draughn, can be reached at 792-4107 or by email, catalyst@musc.edu. Editorial copy can be submitted to Catalyst Online and to The Catalyst in print by fax, 792-6723, or by email to petersnd@musc.edu or catalyst@musc.edu. To place an ad in The Catalyst hardcopy, call Community Press at 849-1778.