After 100 Years of Research, Autism Remains a Puzzle

Michael Wigler, a professor at Cold Spring Harbor Laboratory was surprised. A molecular biologist and geneticist, with a background in mathematics and medicine, he devoted two decades of his research career to studying the causes of autism. In the early 2000s, Wigler and his team revealed that a certain portion of autism cases have genetic underpinnings. One of the team’s goals was to elucidate the full extent of autism’s genetic causes in order to find clues to its treatment and prevention. The team thought they had a good theory, which they dubbed the “unified hypothesis,” but in 2017 that theory began to develop cracks. Now, the most recent findings produced by Wigler and his colleagues are not at all what they expected.

Based on theory, the team projected that affected siblings would share more genetic determinants inherited from their mothers than the fathers. But the findings showed the opposite. “In fact, we see a greater signal of sharing from the father than from the mother,” Wigler says. That parental gender surprise is a head-scratcher that the team has only recently been able to explain. “It’s a puzzle. And we do not like our solutions.”

A complex condition, autism afflicts in the United States, according to the Centers for Disease Control. It manifests itself in a multitude of symptoms, from social awkwardness to anxiety, repetitive behaviors to resisting change. That variability is the reason why it’s called an autism spectrum disorder or ASD. Where on the spectrum an individual fits matters greatly. Those who fall into the high end of the spectrum have better prospects—they are the high-functioning individuals who often have special abilities such as superior math skills or photographic memory, which help them cope with life challenges, such as social anxieties. At the low end of the have an intellectual disability, and an even greater number have problems with motor skills.