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Autism is better understood now, but questions remain about the cause and how to treat the disease


Photo by Lillian DeDomenic

In the late 1940s when Eddie Torisky was born, almost no one knew what autism was.

When he was "stiff as a board at birth" and all three of his younger siblings passed him in development, he was labeled mentally retarded, his father, Dan Torisky, remembers.

Also, psychologists blamed Eddie's condition on Dan and his wife, Connie, whom he labeled as bad parents.

"The doctors diagnosed Eddie much later in life," Dan Torisky, of Monroeville, said.

The medical community has a better understanding of what autism is today, but questions remain about the cause and how to treat it. The Centers for Disease Control and Prevention, along with researchers, still are trying to pinpoint potential triggers.

"We still don't know a lot about the causes of (Autism Spectrum Disorders). Scientists think that both genes and environment play a role, and there might be many causes that lead to ASDs," according to the CDC Web site.

Before autism was recognized as a neurological disorder, doctors focused their research on psychological factors.

"In the '50s and the '60s, there was the 'refrigerator mother' theory, that it was a result of poor upbringing," said Dr. John Carosso, a child psychologist at the Community Psychiatric Centers, which has 11 offices in southwestern Pennsylvania, including Mt. Lebanon, Monroeville and Pittsburgh.

Doctors ran with the theory until 1964, when Bernard Rimland, a psychologist with an autistic son, wrote "Infantile Autism: The Syndrome and Its Implications for a Neural Theory of Behavior." It rejected the refrigerator mother theory and helped change the course of autism research.

After a psychological cause was discounted, researchers found indications that the problem lay in the connections of the way messages travel through the brain.

Researchers have also tried to understand what makes people susceptible to autism. There is research supporting the theory that it can be passed down by family members.

According to the CDC, studies show if one identical twin has autism, that the other will have it about 75 percent of the time. For non-identical twins, the number goes down to 3 percent.

Parents who have one autistic child have a 2 to 8 percent chance of having another, the CDC reports. However, the impact of the environment and other factors still are heavily debated.

The question of vaccinations as possible autism triggers divides the medical and legal community. Some view vaccinations as a cause of autism. Many doctors, including Dr. Nancy Minshew, who runs the Center for Excellence in Autism Research at UPMC, said the research doesn't support the theory.

"Co-occurence is not evidence of cause," said Minshew.

And although the federal government has not publicly supported this theory, the U.S. Court of Federal Claims undisclosed damages to a Georgia family last year after a ruling that vaccinations, along with a pre-existing mitochondrial disorder, led to 9-year-old Hannah Poling's autism.

Other parents, such as Rebecca Williams-Thomas, of Glenshaw, see a connection. She also said the condition of her autistic son, Lee, 3, declined after his vaccinations. He was 27 months when diagnosed in January 2007.

"This was worded so perfectly by a doctor," she said. "(He said) Lee possibly had a genetic predisposition to autism, and the combination of our harmful environment and the vaccinations just pushed him over the edge."

Parents are worried not only about possibly damaging ingredients in the vaccines such as mercury -- they also say the number of vaccinations is far too high. In 1983, the Centers for Disease Control and Prevention recommended 10 vaccinations. Now, there are 36, according to CDC records.

Most parents don't dispute the need for vaccines, but the timing.

"For our daughter, we have chosen an alternative to the CDC vaccination schedule," Williams-Thomas said. "Sarah never gets more than one shot at a time and never a shot with multiple vaccines."

Some parents alter their autistic child's diet in hopes of lessening the severity of their symptoms.

"Neither the hypothesis nor the effectiveness of dietary intervention has been demonstrated in scientific studies to date," according to Autism Speaks, a group that raises money for autism research.

However, some parents say it can make a difference.

Dan Torisky, president of the Autism Society of Pittsburgh and the co-founder of Spectrum Charter School in Monroeville, saw his son's condition improve when he switched to a gluten-free and casein-free diet.

"They were able to reduce his dosage (of thorazine)," he said. Although his son never will be able to live by himself, Dan Torisky said, he made huge improvements and now is able to work.

Fifty years after Eddie Torisky was misdiagnosed, Julie Smith found similar obstacles to getting a proper diagnosis for her child.

Smith, of Mt. Lebanon, adopted her daughter, Ella, from India in 2000. When Ella was around 2 years old, Smith thought something was wrong.

"She did not want to be held and was in constant motion," Smith said. "She banged her head against the wall, window, crib and experienced toys by hitting herself on the head with them."

Smith also said Ella never cried and appeared to have a high tolerance to pain.

When Ella was almost 3, a pediatrician diagnosed her with microcephaly, a small brain. The condition leads to mental retardation. Smith did some research.

"The more I read, the more I knew this wasn't the whole picture," she said.

Later, Ella attended a school for children with a range of disabilities, including autism, and Smith saw similarities between those children and her daughter. Doctors didn't.

"Although she stayed under a chair for a good part of the psych evaluation, doctors felt she was just too socially adjusted" for an autism diagnosis, Smith said. Ella was not diagnosed until she was almost 6 years old, and her mother said placing her on Ritalin, along with "exceptional" education is making a difference for her daughter -- and their family.

"It has been a life saver for us as a family. It allows Ella to be in a typical classroom. It allows Ella to play."

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