Petrushka syndrome is always a "happy" disease

The syndrome of Petrushka, called in the scientific circles by the Angelman syndrome, is a neuro-genetic pathology that is characterized by a delay in the development of the intellectual and physical parameters of a person, violation of sleep and wakefulness regimes , seizures, sharp and erratic limb movements. A smile does not come off the person's face , he constantly laughs for no reason and looks infinitely happy. Hand movements are more like applause, clapping. The syndrome of Petrushka is also called the syndrome of a happy puppet, as sick people look like a doll, with a constant smile on their faces and small frequent twitches of their hands, bent at the elbows -just like puppet puppets, the threads of which are in the hands of the puppeteer.

For the first time this genetic pathology was described in 1965 by the doctor-pediatrician Harry Angelman, who observed three disabled children affected by the disease. It was he who first named his patients "puppet children". Later mentions of the disease appeared in the United States at the very beginning of the 1980s. The syndrome of Parsley is a very common disease. The frequency of its occurrence according to statistical data of the University of Washington (USA) is 1: 20,000 newborns.

Genetically, Angelmann syndrome is due to the absence of certain genes from the 15th chromosome. In some cases, there is a partial deletion, that is, loss of a gene site, or a mutation of the 15th somatic chromosome. As a rule, the mother chromosome, which is transmitted to the fetus from the mother, is affected. But also paternity can be damaged, then in this case the disease is called Prader-Willi syndrome. The karyotype of such a person is schematically denoted as 46 XX or XY, 15p-. The spontaneous chromosomal defect is characterized by the absence of a large adjacent region from a huge number (up to 3-4 million) base pairs of the DNA molecule in the q11-q13 region of the 15th chromosome. Independent studies identify the causes of such mutational changes, caused by mutational changes in the gene UBE3A. The product of this gene is the enzyme component of a complex system of protein degradation. Diagnosis of Parsley syndrome can be done using genetic analysis.

Children suffering from Angellman disease, in childhood, have nutritional problems, especially in early infancy, they gain weight poorly. A little later you can see a delay in the development of general motor skills of the child, which very late starts to sit and walk. There is a bad, undeveloped speech. Such children understand much more than they can tell or express in words.

At school age, there are significant difficulties with the training of those diagnosed with Parsley syndrome, it is very difficult to read such children. They are extremely inattentive and hyperactive. Epilepsy and unusual movements, in particular, small tremor and chaotic limb movements, frequent laughter without reason distinguish these children. Patients have a characteristic gait - on stiff legs. It is because of this feature they are called puppets. They also have a small head with a slightly flattened back, a wide mouth, an outstanding chin, large gaps between the teeth and a tongue sticking out. In addition, in half of the patients there are strabismus, scoliosis and sensitivity to elevated temperature.

The Petrushka syndrome does not currently have specific methods of treatment, but it is possible to improve the quality of life of patients with the help of several medical measures. Infants are given a massage and physiotherapy. At the preschool age, speech therapists and defectologists are involved with children. To normalize sleep they are prescribed light sleeping pills. Epileptic seizures are treated with anticonvulsant drugs. Often children are taught the language of gestures.

Parsley syndrome, as a rule, affects boys more often, but girls are also susceptible to this disease. In medical practice, the case of a woman with a happy puppet syndrome, which gave birth to a girl, is also described as "happy". Only the price of such happiness in sick people is incredibly high ...