For the first time the concept of Petrushka syndrome was introduced in 1965 by Harry Angelmann, after whom this illness was later named. The frequency of the disease is 1 to 20,000 children and is transmitted genetically. The disease is diagnosed at the age of 3-7 years and more often in boys.
Petrushka syndrome - what is it?
This disease is called "happy doll syndrome", "laughing doll" or "puppet syndrome". The syndrome of Petrushka is a rare neuro-genetic pathology, which is characterized by a delay in the development of physical and intellectual abilities. Establish a disability with Angelman syndrome is possible if you pass a survey and teach the conclusion of geneticists. The reason for the absence of a number of genes of the 15th chromosome, as a rule, should be sought in the maternal genotype. In such women, the chance to tolerate a healthy baby is very small, if a woman suffered from this disease - in 98% of cases the same child appears.
Diagnosis of the angelman syndrome is carried out in case the newborn has a decrease in muscle activity and impaired motor motility. Unfortunately, people with such disorders have no chance of a full recovery, the more the 15th chromosome is affected - the less chance to be cured. It is known that such a disease is not only inherited, but also manifested much stronger and brighter than that of the mother.
Parsley Syndrome - Symptoms
This disease is characterized by:
- laughter and joy for no reason;
- chaotic gestures;
- difficult or missing speech;
- disturbance of balance;
- slow weight gain;
- seizures;
- sleep disturbance;
- strabismus (strabismus);
- convulsions;
- copious salivation;
- falling out of the tongue;
- chronic thirst.
Symptoms in adult patients are mitigated over the years. By adulthood, they are experiencing some symptoms, such as hyperactivity and sleep disturbance , and some may become worse, for example, scoliosis. With age, weight problems can begin. In girls with this syndrome, during puberty, which occurs at the usual time, there may be an increase in seizures.
Angelman Syndrome in children - symptoms
The first signs of parsley syndrome appear already in the early months of development.
- In problems with feeding, sleeping, slowing down of weight gain. The need for sleep may decrease, and the normal regime may not be established for a long time.
- At school age there will be problems with reading and perception, difficulty with concentration of attention.
- Interference with learning can include hyperactivity, speech problems and coordination disorders.
- Because of the gait on stiff legs, the patients are called "puppets", they are also characterized by scoliosis and, most terrible, epilepsy is observed in 80% of patients.
Disease "Parsley Syndrome" - how many live?
The life expectancy of patients with a diagnosis of "Petrushka syndrome" is average, 35-40 years. People who have received a disability, but who have applied the correct treatment for the entire time, can live longer. At present, there are no methods for complete cure, but there are special programs that can improve the quality of life of patients.
Angelman syndrome - treatment
It is important to remember that the most important thing for children with such a disease is the atmosphere of love and affection in the home, do not forget about regular examinations and observance of all the conditions of therapeutic therapy. With the passage of time, new methods of treating Anghelman's syndrome are being developed. These special programs are made individually for each individual patient with different symptoms, but there are 4 main ways:
- Anticonvulsants for the treatment of epilepsy, which will reduce the risk of frequent seizures and relieve the consequences.
- Physiotherapy exercises for the development of small motor skills and other types of motor activity.
- Sign language is better to start learning from an early age, learning such a method of communication will help you to adapt and socialize faster, as far as possible in this case.
- Behavioral therapy is necessary to overcome hyperactivity and increase concentration.