Early Autism Diagnosis, Treatment Key for Best Results, Says Expert

Correct and quick treatment of autism is crucial for the best results for people with the disorder, said a scholar and author whose expertise in the field is bolstered by a lifetime of living with it.

Temple Grandin, Ph.D., an author and speaker renowned for her unique and personal perspective on autism, paid a visit to Salt Lake-based Lineagen on Wednesday for a presentation on the company’s genetic testing services, which focus on diagnosing autism and other conditions of childhood development.

Grandin punctuated the presentation with sharp, insightful questions—such as how, quite specifically, Lineagen pinpointed where on the human genome to run its test. Grandin was diagnosed with autism in 1950 which, in the ‘50s, could have condemned her to a life lived within an institution, but she pursued her education and developed a successful career as a livestock-handling equipment designer. She is currently a professor of animal science at Colorado State University.

During a Q&A after the presentation, Grandin said she hopes, as a result of her decades-long advocacy, that children with autism will be encouraged and enabled to develop to their fullest capacity, living productive lives that are enriched by their inherent talents and abilities.

In many ways, that is also the goal of Lineagen, which says its testing tools enable children to be diagnosed faster and, therefore, access treatments and therapies as early as possible.

Lineagen CEO Michael Paul said 2 percent of people in the United States have been diagnosed with an autism spectrum disorder, or one in 68 people. And autism is known to have a substantial genetic component.

“We have a deep commitment to world-class genetic research,” said Paul, who noted that Lineagen and its research partners “have identified over 50 novel genetic variations previously unknown to contribute to the cause of autism.”

Genetic testing is important, said Dr. Bob Wassman, chief medical officer for Lineagen, because getting the right diagnosis is key to getting the right treatment. “We can’t treat until we diagnose. The more precisely we diagnose, the more effective our treatments can be for individuals,” he said.

Autism is a wide spectrum, and different genetic variants can lead to much different symptoms, behaviors and physical conditions. That’s why it is key to pinpoint the exact genetic cause of autism or other conditions of childhood development, said Wassman.

“Each individual within the spectrum deserves to be an individual and looked at diagnostically and medically, in all of their care, as an individual, and our test helps us get to that,” he said.

Without a confirmed genetic diagnosis, patients can bounce from one medical provider to another, and from one behavior-based diagnosis to another, looking for answers for their unique situations. Genetic testing “cuts short this diagnostic odyssey that is bewildering for the family,” said Wassman.

In addition, he said undiagnosed conditions can carry unsuspected health complications, like seizures or heart conditions. A fast, early diagnosis helps young patients begin to address those conditions before they become life-threatening.

Lineagen testing comes with a detailed, written report for the family, along with pre- and post-test genetic counseling, said Rena Vanzo, vice president of clinical services for the company. This counseling helps parents shape a treatment and advocacy plan for their child, as well as understand their risks for having another child with the same condition.

 The presentation ended with Grandin grabbing a testing kit and swabbing her own cheek for a genetic sample.

Grandin is in Salt Lake for a series of events; on Friday she will keynote a Columbus Community Center symposium on innovative ways to address social, financial and economic issues related to disabilities.