Unraveling the Genetic Mysteries of Autism

Contributed by Dave Parks

Scientists are slowly unraveling autism’s mysteries, and now believe the disorder’s confusing and contradictory symptoms are the result of a brain compensating for faulty circuitry, likely linked to genetic flaws, according to a top researcher.

“We’ve made a lot of progress in the last 10 years … but we’ve got a long way to go,” said Dr. Nancy Minshew, director of the University of Pittsburgh’s autism research center. Minshew delivered the Glenwood Endowed Lecture last week at the University of Alabama at Birmingham.

She said research has revealed that autism is far more prevalent than people have realized, and early intervention with fundamental teaching methods is effective. This new understanding of autism has also raised profound questions about discrimination and the worth of all people, no matter how their brains function or dysfunction, she said.

Autism is a disorder arising in childhood and marked by an inability to empathize with others or follow complex directions. Minshew said that experts in the 1980s believed it was caused by a single mental deficit. The most likely candidates were an inability to focus on personal space, a lack of sensory perception or selective amnesia. It turned out to be none of the above.

In fact, autism may be best viewed as a collection of individual deficits involving complex thought processing, she said. Research strongly suggests it has a genetic link, although there’s still much uncertainty about this.

Brain breakthrough:
A breakthrough in research came a decade ago when new imaging technology showed autistic brains were overdeveloped in areas that process basic information and underdeveloped in areas that process complex information, Minshew said. “I remember being amazed,” she said. “This foretold the next 10 years of research.”

Scientists now believe this imbalance is the result of the brain remodeling itself to compensate for problems with basic neurological circuitry in the cerebral cortex – a large area of gray matter responsible for higher functions such as sensation, voluntary muscle movement, thought, reasoning and memory.

Essentially, people with autism rely heavily on basic mental functions because they are unable to use the complex ones, she said. The result is often a confusing mix of extraordinary abilities and deficits. For instance, someone with autism could have an impressive vocabulary while being unable to understand sentences.

“When you talk to somebody with autism you overestimate their comprehension because their vocabulary is above their IQ,” Minshew explained.

Thus, the best way to teach autistic children is through basic methods that allow slower processing of information, she said. It’s like learning multiplication tables vs. complex word problems. Teachers need to be aware of this, and use basic teaching techniques since they can benefit all children.

Children with milder forms of autism such as Asperger’s syndrome often possess amazing basic learning skills, she said. “If you want to find people with Asperger’s, go to the spelling bees,” she said.

And an autistic person’s inability to empathize with others may actually be an inability to share common experiences, Minshew said. For instance, some autistic people are unable to feel pain, she said.

“If you don’t experience pain, how can you be sympathetic to other people in pain?” she asked.

Autism epidemic?:
As knowledge has grown, most researchers have dismissed the possibility of an autism epidemic, even though the number of people identified with autism has jumped in recent years, Minshew said. The increases are likely being caused by better recognition of the disorder and an expansion of its definition.

Twenty-five years ago, mildly affected children were not considered autistic, she said. The definition changed when educators realized that early intervention could help these children.

And since research is strongly suggesting a genetic component to the disorder, an epidemic is unlikely. “You can’t have a genetic epidemic,” she said.

Despite a growing understanding about autism, there is still a stigma associated with the disorder. Minshew said she was working with one autistic child whose parent opened the front door one morning and found a sign saying, “I wish your son was dead.”

Autistic children are often bullied and abused at school simply because they are different. “There is no end to the ugliness,” Minshew said.

Still, autistic people have much to contribute. They are good workers, often excelling at repetitive tasks that require close concentration.

“If we think about it in terms of jobs, I would love to have them at the airport doing screenings,” she said. “There would be no box cutters getting through.”

Other countries do a better job of finding places for autistic people to fit in, she said. “We need to work on that.”

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