Scientists at an independent Baltimore laboratory that studies the brain say they may have figured out how a rare form of autism called Pitt-Hopkins syndrome develops from a gene mutation, and they soon will begin testing a treatment.

The scientists at the Johns Hopkins-affiliated Lieber Institute for Brain Development don’t expect a cure but believe children especially could have significant improvements in their intellectual, developmental and communication deficits.

If the treatment – an existing drug intended to treat pain – is effective it could be tried on similar syndromes on the autism spectrum, as well as schizophrenia, Lieber officials said.

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“Across the world people are trying to understand autism,” said Dr. Daniel R. Weinberger, director and CEO of the institute. “If we can really dissect what is happening in the brain with a very specific disorder, it gives us insight into what’s going on in the autism brain.”

In this case, scientists studied the gene mutation in rats and found certain channels in the brain that interrupted normal cell activity. So nerve cells in the brain that normally respond to stimuli in the environment and allow people to speak or respond to social cues, for example, instead just shut down.

Much of the past research on Pitt-Hopkins and other autism disorders have centered on correcting the specific mutated gene, but at Lieber the investigators led by Brady J. Maher aimed “to correct the mischief this abnormal gene is causing in the brain,” Weinberger said.

The researchers discovered there is a drug in advanced trials that could shut down the channels interrupting normal activity.

Others say the findings published online this week in the journal Neuron have implications beyond Pitt-Hopkins, for which there are only about 500 confirmed cases, though the number is likely low, said Rebecca D. Burdine, an associate professor in the department of molecular biology at Princeton University.

It would be tough to say how effective any drug would be in treating such disorders, said Burdine, also head science advisor for the Pitt-Hopkins Research Foundation, which helped fund Lieber’s research, and the mother of a child with a similar syndrome.

She said, however, there is promise in improving deficits because brains of children with Pitt-Hopkins haven’t developed abnormally.

“Saying the neurons aren’t functioning correctly is different than the brain didn’t develop correctly,” she said. “This is like a car and all the pieces are there but the engine isn’t firing correctly. …Potentially you can fix the engine if you know what’s wrong.”

Audrey Davidow Lapidus, president of the Pitt-Hopkins Foundation and the mother of a 5-year-old with the syndrome, said she is hopeful that trials can begin quickly and that they show improvements.

But, she said, she understands that something promising in the lab doesn’t always work in humans.

“Certainly this is hope,” she said. “There are no treatments now.”

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