Don’t say the word “cure.”
A much-discussed study found that some children who have been diagnosed with autism spectrum disorders can outgrow them. That news has spurred hope among parents desperate for cures and, simultaneously, fears among some on the spectrum who embrace their “quirkiness” and don’t want a fix, thank you very much.
A panel of experts said Friday at Health Journalism 2013 that the causes of autism spectrum disorders remain mysterious and that questions remain about how to minimize the deficits in speech, social behavior and cognition seen in those on the spectrum.
The three experts all agreed that new higher estimates from the CDC that one in 88 children may have autism could be related to increased diagnosis and earlier detection, not just to an increase in cases. They said babies as young as six months can exhibit signs that they might be on the spectrum and that clinicians are diagnosing children who have just turned a year old.
The recent research that children might outgrow autism came from a study of 34 children and young adults who had been diagnosed before age 5 and no longer showed any symptoms when researchers tested them at ages 8 to 21.
“This is still very controversial,” warned panel member Roula Choueiri, a neurodevelopmental pediatrician at the Floating Hospital for Children at Tufts Medical Center. “We don’t know how many lose the diagnosis.”
Choueiri would not use the word “cure,” but said she has seen cases in her own clinical work where children who were once diagnosed with autism no longer exhibit the symptoms of the disease. She estimated that between 3 and 25 percent lose the diagnosis. “We don’t have full information on how and why.”
Choueiri said the focus of her work is to help children with autism function at the highest possible levels in schools and social settings and to help the families of kids with autism. She said she does not try to “cure” them.
While autism spectrum disorders will have a new definition when the DSM-5 is released in May, they remain confounding to diagnose, treat and explain.
“We have made advances with genetics,” said Walter Kaufmann, director and professor of the Rett Syndrome Program at Boston Children’s Hospital. “How much is it environmental and how do environmental and genetic [causes] interact?”
Reporters pressed the experts to delve into possible environmental triggers, but Kauffman, Choueiri and the third speaker, David Miller, a geneticist at Boston Children’s Hospital, said they are not experts on environmental causes.
Miller said that a very high percentage of autism cases — about 70 to 90 percent — are related to genetic causes. But of those, researches can only find specific genetic defects in about 15 percent of cases. Miller said that dozens of genes are probably to blame for autism. This makes the disorder especially hard to diagnose and treat.
The greatest hope for finding answers comes from exome and genome sequencing, Miller said.
“Hopefully this will improve our understanding of what causes autism as well as drug targets,” he said.
Kauffman said there may be promising new developments on the horizon.
“We have come a long way. We have identified genetic defects,” he said. The latest research shows that the problems likely are related to poor signals between brain synapses.
“It’s not necessarily a malformed brain. It’s the connectivity between the cells that isn’t normal,” he said.
He said large pharmaceutical companies expect “major developments” in the next five years on autism spectrum disorders.
“What you see in the mouse may not happen in humans,” Kauffman said. Nonetheless, “all of this has led to a tremendous level of excitement.”