What Is A Prader Willi Syndrome?

May 01 10:55 2019 Print This Article

It is defined as a disorder which there is seven genes present on chromosomes. It involves the chromosomes 15. It is abbreviated as PWS. A Prader, H Willi and others described it in the year 1956. The number of new cases were 1 in 20,000. There is a loss of paternal gene origin by the process of deletion and there is a decrease in the size of gene due to imprinting. It has a sister syndrome known as Angel man syndrome. It includes the maternal deleted as well as paternal imprinted genes. It occurs in the same genetic region.

What are the signs and symptoms of Prader willi syndrome?

It includes the multiple signs and symptoms which are good indicators of the disease. It can be present at the utero, pregnancy as well as infancy. The other symptoms can be present at birth. The symptom in utero includes the decrease in fetal movement, abnormal fetal position as well as increase in the amniotic fluid. The symptoms at birth include the lethargy, hypotonia as well as caesarian birth. There can be a problem in the feeding as well as difficulty in the respiration.

The other reason can be hypo gonadism. In the infancy one sees a problem in the thriving along with an increase in sleeping. There is a strabismus as well as scoliosis which is not seen at the birth. There is a delay in the intelligence too. In the child hood time there is a problem in the speech as well as problem in the physical appearance. There is a problem in the sleep as well as scoliosis. There is increase in the weight as well as the person eats a lot more which is referred as the hyper phagia. It is seen from the age 2 to 8 years. In case of adolescence there is a delay in the puberty as well as they have a short height. The patient is quite flexible and there is an increase in the weight.

In the adult hood there is infertility seen in the case of males as well as females. The pubic hairs are not present in large number and one can also note hypo gonadism. There is an increase in the weight and the patient is quite flexible. The person can get diabetes and the patient has a problem in the learning.

In the adults one can see a problem in the motor development. There is a lot of skin picking as well as high and narrow fore head. The nasal bridge is quite prominent and the sexual development is absent. The skin and hair are light in color. The eyes are almond in shape. The lips are thin and are turned down in direction. They have increase in the deposition of fat mainly in the central part of body. Their hands are small and so are their feet. Their skin is soft which can be bruised.

There can be neuro cognitive involvement also in few cases.

How Prader willi syndrome can be diagnosed?

It includes the use of visual examination and a patient history. There are nearly 500 thousand people worldwide who suffer from it. There are new cases seen in the number of 1 in 10 to 25 thousand. It has multiple problems like the high and narrow fore head. The nasal bridge is quite prominent and the sexual development is absent. The skin and hair are light in color. The eyes are almond in shape. The lips are thin and are turned down in direction. They have increase in the deposition of fat mainly in the central part of body. It varies from one person to other and there is a mild to severe problems. There are many organ systems which are affected by it.

The other option can be the use of genetic testing. It is done in the new born with hypotonia. If the diagnosis is done early it helps to treat the condition with the help of growth hormones. One can go for the growth hormone injections. It helps in the linear growth as well as increase in the mass of muscles. There is an increase in the weight too. Genetic testing is the main diagnostic test. The infants with this disorder have a problem in the birth and there is a decrease in the level of oxygen which may worsen the condition.

How Prader willi syndrome can be treated?

It must be treated as soon as possible in the infancy one must go for a multiple therapies so that the muscle tone can be improved. One can also go for the speech as well as occupation therapy. In the school time a child must go for the learning environment along with an extra help. The main problem linked with it is the increase in weight as well as high and narrow fore head. The nasal bridge is quite prominent and the sexual development is absent. The skin and hair are light in color. They have increase in the deposition of fat mainly in the central part of body. One can treat the condition with the help of growth hormones. One can go for the growth hormone injections. It helps in the linear growth as well as increase in the mass of muscles. There is an increase in the weight too which can lead to problem in the sleep. One must go for the positive air way pressure machine.

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