Children's autism can be treated
Last reviewed: 23.04.2024
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The fragile X chromosome syndrome (Martin-Bell syndrome) is a chromosomal abnormality, which is considered the most common hereditary cause of mental retardation. Symptoms of this syndrome are also inconsistent muttering speech and schizophreniform behavior - unexpected bouncing, grimacing and other pretentious movements. In addition, children with a fragile X-chromosome syndrome may suffer from childhood autism.
Until now, scientists and doctors do not know how to overcome this syndrome, there are only methods of temporary relief of symptoms. However, research in this direction does not stop, and one of them can become a significant leap forward.
Scientists from the Medical Center of the University of Chicago, Rush, came to the conclusion that the Martin-Bell syndrome, as well as, perhaps, antisocial symptoms of autism should be amenable to drug treatment. The results of their research are published in the online version of the journal "Science Translational Medicine" on September 19.
The first phase of trials of a new drug STX209 or arbaclofen has already been completed. This drug is designed to balance the biochemical processes of the brain, which in people with the Martin-Bell syndrome are violated.
25 volunteers who participated in the study and took new drugs felt significant improvements: the level of irritability decreased, the number of hysterical seizures decreased, and social skills improved.
"This is the first large-scale study based on a molecular understanding of the fragile X chromosome syndrome. We believe that the main symptoms can be medicated, "says Elizabeth Berry-Kravis, professor of pediatrics, neurology and biochemistry.
According to the US Center for Disease Control and Prevention, approximately 1 in 4,000 men and 1 in 7,000 women suffer from a fragile X chromosome syndrome, and also have autistic disorders caused by this genetic abnormality. Typically, symptoms of autism appear before the age of three.
"This study could be the first step in developing new treatments for genetic diseases that until now were considered incurable," says Professor Berry-Kravis. "Thanks to this discovery, we can move away from the empirical forms of therapy that were conducted without determining the exact cause of the disease."
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