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.
“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.”