The geneticist told about the main symptoms of the syndrome of "angel children"

Children with Angelman syndrome, who are called angels because of their cuteness and benevolence, may have difficulty moving, speaking, and sleeping. Natalia Zakharzhevskaya, a leading geneticist and expert at the Hemotest Laboratory, told Izvestia about this on February 15, the International Day of Awareness about Angelman Syndrome.

According to the geneticist, Angelman syndrome is diagnosed in one out of 15 thousand newborns. It occurs due to a spontaneous mutation in chromosome 15, in the UBE3A gene.

"This gene performs the function of the "internal cleaning service" of the brain. It produces a protein that helps to "clean up" all improperly assembled proteins in cells, labeling them with a special label. But if the enzyme does not work due to a gene mutation, then the degradation system does not see these proteins, and they accumulate," Zakharzhevskaya explained.

So, unnecessary proteins accumulate, prevent neurons from transmitting signals, and the brain stops developing and controlling the body properly. That is why children with Angelman syndrome have difficulties with movement, speech, sleep, and development stops. According to the specialist, the first symptoms of this genetic syndrome can be noticed already at the age of 6-12 months.

"Children start sitting up later, pronounce sounds worse, and their coordination is impaired. Mothers often complain of difficulties with feeding and frequent regurgitation. But the most striking feature is behavioral. Kids are excitable, almost constantly smiling and laughing. Because of this outward cuteness and benevolence, they are called angel children. The syndrome is also characterized by severe sleep disorders: sometimes a child sleeps no more than two to three hours a day. Later, epilepsy often joins," the expert said.

As Zakharzhevskaya emphasized, despite the spontaneous nature of the mutation, modern medicine makes it possible to identify a high probability of pathology even before the birth of a child.

"The noninvasive prenatal test (NIPT) provides this opportunity starting at 10 weeks of pregnancy. It does not require invasive intervention: the analysis is carried out on the venous blood of the mother, extracellular DNA of the fetus is isolated in it," the expert notes.

However, it is currently impossible to completely cure Angelman syndrome, but there are ways to improve the quality of life of patients.

"Physiotherapy and occupational therapy are actively used for this purpose. But the main hope is for gene therapy," the geneticist concluded.

Last October, the ScienceNet portal reported that high rates of autism in humans may be closely related to the process of human evolution. Scientists believe that autism, like schizophrenia, may be the result of unique changes in human genetics that ensured the survival of ancestors.

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