Petrushka’s syndrome, which is called Angelman’s syndrome in scientific circles , is a neuro-genetic pathology characterized by a delay in the development of intellectual and physical parameters of a person, impaired sleep and wakefulness, convulsions, sudden and erratic movements of limbs. A smile does not leave a person's face , he constantly laughs for no reason and looks infinitely happy. Hand movements are more like applause, clapping. Parsley syndrome is also called happy puppet syndrome, as sick people have the appearance of a doll, with a constant smile on their faces and small frequent twitches of their hands, bent at the elbows - exactly like puppet dolls, the strings of which are controlled by the puppeteer.
This genetic pathology was first described in 1965 by a pediatrician doctor, Harry Angelman, who observed three disabled children affected by this disease. It was he who first called his patients "puppet children." Later references to the disease appeared in the United States at the very beginning of the 80s. Parsley syndrome is a fairly common disease. The frequency of its occurrence according to statistics from the University of Washington (USA) is 1: 20,000 newborns.
Genetically, Angelman syndrome is due to the absence of certain genes from the 15th chromosome. In some cases, a partial deletion occurs, that is, a loss of a gene site, or a mutation of the 15th somatic chromosome. As a rule, the maternal chromosome is affected, which is transmitted to the fetus from the mother. But the paternal one can also be damaged, then in this case the disease is called Prader-Willi syndrome. The karyotype of such a person is schematically indicated as 46 XX or XY, 15p−. A spontaneous chromosomal defect is characterized by the absence of a large contiguous region from a huge number (up to 3-4 million) of the base pairs of the DNA molecule in the region q11-q13 of regions of the 15th chromosome. Independent studies reveal the causes of such mutational changes due to mutational changes in the UBE3A gene. The product of this gene is the enzyme component of a complex system of protein degradation. You can diagnose Parsley syndrome using genetic analysis.
Children suffering from Angelman's disease in childhood have nutrition problems, especially in early infancy, they gain weight poorly. A little later, you can notice a delay in the development of general motor skills of a child who begins to sit and walk very late. Poor, undeveloped speech is observed. Such children understand much more than they can tell or express in words.
At school age, there are significant difficulties in teaching those who are diagnosed with Parsley syndrome, such children can read with great difficulty. They are extremely inattentive and hyperactive. Epilepsy and unusual movements, in particular, small tremor and chaotic movements of the limbs, frequent laughter for no reason distinguish such children. Patients have a characteristic gait - on stiff legs. It is because of this feature that they are called puppets. They also have a small head with a slightly flattened nape, a wide mouth, a prominent chin, large gaps between the teeth and a protruding tongue. In addition, strabismus, scoliosis and sensitivity to elevated temperature are observed in half of the patients.
Parsley syndrome currently does not have specific treatment methods, but it is possible to improve the quality of life of patients with the help of several therapeutic measures. Babies are given a massage, and physiotherapy courses are conducted. At preschool age, speech therapists and defectologists are involved with children. To normalize sleep, they are prescribed light sleeping pills. Epilepsy attacks are treated with anticonvulsants. Often children are taught sign language.
Parsley syndrome usually affects boys more often, but girls are also prone to this disease. In medical practice, a pregnancy is described for a woman with a happy puppet syndrome, who gave birth to a girl who is also “happy”. Only the price of such happiness in sick people is incredibly high ...