Prader-Willi syndrome

in #praderwillisyndrome3 years ago (edited)

Prader-Willie syndrome is a congenital disorder with a combination of obesity, short stature, decreased function of the gonads (hypogonadism), and low intelligence. This disease has an extensive range of manifestations and symptoms. The course of the disease differs in each case and can range from mild to severe, which progresses throughout a person's life.

The disease was first described by Swiss pediatricians A. Prader and H. Willi in 1956 and occurred in 1 person in 25,000-10,000 newborns. The cause of this genetic disease is the absence or insufficient functioning of some genes (or parts of them) on the 15th paternal chromosome. It should be noted that it is impossible to identify this pathology with the help of a conventional study of the chromosomal composition of the karyotype. For this, special cytogenetic and molecular genetic methods are used.

Children with Prader-Willi syndrome are usually born full-term with minor intrauterine malnutrition and often asphyxiation. Breech presentation is observed in 10-40% of cases. The disease is characterized by severe muscular hypotension at birth, which persists during the first year of a child's life. Sucking and swallowing reflexes are reduced, which makes it difficult for the baby to feed. Due to hypotension in such children, the development of motor functions is delayed: they hardly learn to hold their heads, sit, etc. Muscular hypotension gradually decreases and almost completely disappears by school age.

Later, by the second or fourth year of life, a constant feeling of hunger and lack of satiety appears, leading to obesity, and fat deposition is observed mainly on the trunk and in the proximal extremities. Due to severe obesity, obstructive sleep apnea (respiratory arrest) during sleep is a formidable complication.

The growth of patients is often reduced. Often noted are Dolichocephaly (elongated head shape), almond-shaped eyes, low auricles, wide nose bridge, and smallmouth with a thin upper lip. The feet and hands of patients are disproportionately small (acromicria). Mild pigmentation of the skin, hair, and iris is observed in 75% of children.

At birth, boys have underdevelopment of the penis, scrotum, cryptorchidism, and girls have underdevelopment of the labia, sometimes the uterus. In the future, the disease is manifested by a delay or lack of puberty, infertility.

Psychomotor development lags behind the age norm - the IQ is from 20 to 80 units. (at a rate of 85-115 units). As a rule, children with Prader-Willi syndrome have a good long-term visual memory, they can learn to read and have a rich passive vocabulary, but their own speech is usually worse than understanding. Auditory memory, mathematical and writing skills, visual and auditory short-term memory in such children are usually significantly worse. Patients are benevolent; frequent changes characterize the mood. Disorders of coordination, convulsions, strabismus are described.

The life expectancy of patients can reach 60 years or more. But, unfortunately, these children often develop diabetes mellitus.

Treatment

Prader-Willi syndrome is a congenital genetic abnormality and therefore cannot be cured. However, if the disease is diagnosed at an early stage and treatment is started, the prognosis for the development of the disease becomes more optimistic.

Babies with reduced muscle tone should receive massage and other special therapies. The complex therapeutic measures also include a diet with limited fats and carbohydrates and drugs that promote the formation of secondary sexual characteristics (gonadotropins). Growth hormone therapy is recommended.

It is recommended to use special methods of child development, classes with a speech therapist, and a dermatologist.

Medical genetic counseling

Parents of a child with Prader-Willi syndrome are advised to undergo genetic testing before planning a further pregnancy, as there is a risk that the next child to the same parents will also be born with Prader-Willi syndrome, which depends on the mechanism that caused the genetic failure ...