Tuesday, October 24, 2006

A Tale of Two Doctors, or Why TV Does Not Cause Autism

Those who cannot remember the past are condemned to repeat it. ~ George Santayana

A gap in the treatment of disabled children worried a lone doctor in Vienna. Austrians rebuilding war-torn cities had no time for the retarded. The doctor lobbied local politicians. He opened the first clinic of its kind in Europe, and frustrated families flocked to it.

One day in 1954, the Austrian doctor glanced at two girls sitting in the waiting room. Both were washing their hands in dry air. He had seen repetitive movements before, but their actions caught his eye. Curious, he carefully examined them, compared their developmental history, and noticed a pattern.

The doctor uncovered six more patients like the girls at his clinic. He filmed them and scoured Europe for others fitting the profile. Twelve years later, he published his findings in a German medical journal that garnered no attention. His paper never even made it to the cutting room floor of the international press.

Another lone doctor traveled a parallel path in the city of Gothenburg. In 1960, he observed the same collection of unusual symptoms. He boxed up the records matching the pattern for safekeeping. His practice kept him busy, but the Swedish doctor intended to study the mystery some day.

Years passed. Both doctors in the two cities continued to document their girls and find new ones. Frustrated by the lack of interest in his research, the Austrian published a description of the disorder in English in 1977. It did nothing. More years passed.

Then a miracle happened. The two finally met at a conference in Canada. Imagine the joy of finding another professional with the same enthusiasm for these sweet girls. Inspired, the Swedish doctor collaborated with other on the first report of this syndrome published in English in a mainstream medical journal.

This report sparked interest in Rett Syndrome, named after the Austrian doctor. It took another quarter century to identify the primary gene that mutates and causes this syndrome. Now, they have a strain of female mice that show similar symptoms when this gene goes astray. They are well on their way to curing this developmental disorder.

What does the history of PKU and Rett Syndrome have to do with autism? Doctors once labeled these disorders as mental retardation. Seeing and investigating a pattern led to the prevention and treatment of PKU. Seeing another pattern revealed the gene and animal model for Rett Syndrome. Vast epidemiological studies did not produce these revelations. Large numbers cloak vital little patterns. By chipping away at unique profiles, researchers peeled back layers of retardation.

The lessons of the past imply that autism, like mental retardation, is a collection of syndromes. By sorting puzzle pieces by pattern, doctors might shorten the time needed to spot a new causation. Correlating the perceived increase in autism to one cause (television) is like assembling a jigsaw puzzle from a huge pile of pieces. Too many unrelated pieces blind the puzzle builder unless first sorted logically. The past tells us to conquer the puzzle by working in separate clusters.

Moral of the Story: Study the profile or your child. Try to identify therapies that seem most promising for an autistic child like yours.

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