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Childhood autism can be treatable
Medical expert of the article
Last reviewed: 01.07.2025
Fragile X syndrome (also known as Martin-Bell syndrome) is a chromosomal abnormality that is considered the most common inherited cause of mental retardation. Symptoms of this syndrome also include slurred, mumbling speech and schizophrenia-like behavior - sudden jumping, grimacing, and other bizarre movements. In addition, children with fragile X syndrome may suffer from childhood autism.
Until now, scientists and doctors do not know how to overcome this syndrome, there are only methods for temporary relief of symptoms. However, research in this area does not stop, and one of them may become a significant breakthrough.
Scientists at Rush University Medical Center in Chicago have concluded that Martin-Bell syndrome, and perhaps also the antisocial symptoms of autism, may be amenable to drug treatment. Their findings are published online in the journal Science Translational Medicine on September 19.
The first phase of testing of the new drug STX209, or arbaclofen, has already been completed. This drug is designed to balance the biochemical processes of the brain that are disrupted in people with Martin-Bell syndrome.
The 25 volunteers who took part in the study and took the new drug experienced significant improvements: decreased irritability, a decrease in the number of hysterical fits, and improved social skills.
"This is the first large-scale study based on a molecular understanding of fragile X syndrome. We believe that the core symptoms may be treatable with medication," said Elizabeth Berry-Kravis, professor of pediatrics, neurosciences and biochemistry.
According to the U.S. Centers for Disease Control and Prevention, about 1 in 4,000 males and 1 in 7,000 females have fragile X syndrome and also have autism spectrum disorders caused by this gene abnormality. Symptoms of autism usually appear before the age of three.
"This research could be a first step in developing new treatments for genetic diseases that have been considered incurable until now," says Professor Berry-Kravis. "This discovery could move us away from empirical forms of therapy that have been carried out without identifying the exact cause of the disease."
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