Thứ Hai, 13 tháng 1, 2014

Prader Willi Syndrome

Prader Willi Syndrome Prader Willi syndrome is a hereditary disorder affecting physical as well as mental health. It would affect the brain signals triggering intense feeling of hunger. People with PW syndrome will end up overeating leading to obesity. Children with this syndrome will have poor muscle tone and will have trouble in feeding. This disorder will also affect the sex hormones and boys born with this syndrome will have un-descended testicles.

In addition this disorder will also affect the intellectual skill of the child causing learning and behavioral problems. It needs special care and various control measures to keep the symptoms under control. Children born with this disorder should be under medical guidance for many years. This rare disorder can be identified if the child is constantly feeling hungry even after feeding the stomach in full. They will be adamant in eating more and this will lead to weight gain and obesity.

Symptoms :

Infants with Prader Willi syndrome will have distinct facial features like narrowed head, almond shaped eyes, upside down mouth and thin lining of lip. They will have poor muscle tone called hypotonia. Because of this, the babies will let loose their elbows or knees when they are resting instead of being fixed.

Due to poor sucking reflex, the baby may not be able to feed properly and hence some babies will not thrive. This happens only for the first year of the child after which he starts eating very much. There will not be eye coordination and hence the baby will not stay focused on any one object or thing. His eyes will be wandering on the sides. These babies will look always tired and will not respond to stimulation.

Early Childhood :

During the developmental stage of 1-5 years, there will be craving for food constantly. Certain brain signals that control the feeling of hunger are defective in these children and hence they will be eating more leading to overweight.

Adolescent Stage :

The sex organs will not develop properly leading to hypogonadism. The testis (boys) and ovaries (girls) will not be fully developed and there will not be enough sex hormones. Children with this disorder will not get puberty in regular time. Secondary sexual characteristics will not appear even during adolescent ages.

There will be developmental delay in such children and hence they will not sit or stand or walk till they are 2 years old. There will be delayed speech or slurred speech in such children. Due to low muscle tone, children will have short structure and short hands. They will have distinctive behavioral problems and learning disability. Children with this syndrome will have sleep disorders and hence may look tired and fatigue. For some children there will be nearsightedness or myopia.

Causes :

Prader Willi syndrome is hereditary and is passed on the child through genes. It is believed to be caused due to defective gene in chromosome 15.

For regular children, if one copy of the gene (in a pair) is active other copy will also be active. But for these children some genes will be silent instead of active. Some genes will be missing or defective in these children. Since this disorder leads to overeating, it will cause diabetes and many other weight related problems in young age. Further due to improper development of sex organs, very often people with this syndrome will have infertility problem.

Tests :

Your doctor will physically examine the child looking for poor muscle tone and other symptoms. He may order for genetic tests for analyzing the chromosomal defects.

Treatment :

There is no cure or treatment for Prader Willi syndrome since it is genetic disorder. Only few of the symptoms can be managed by treatment and therapy. In the initial stage, the baby will have problems of feeding due to poor muscle tone and hence there may not be expected weight gain. Hence your doctor will recommend giving good infant nutrition with high calorie formula for such babies.

Human growth hormone will be injected into the body of the child to improve metabolism. Similarly sex hormone treatment has to be done for replacing the incomplete sex hormones. The child has to be monitored regularly for controlling obesity due to overeating. Physical therapy will be given for helping the child to walk and learn other skills. In addition behavior therapy can be given for developing social skills. Very often, individuals with Prader Willi syndrome will need medical care throughout their life.

Pictures of Prader Willi Syndrome :

Images, Pics, Pictures and Photos of Prader Willi Syndrome

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Prevention :

Nothing can be done for preventing this disorder since it is of genetic origin. Genetic counseling can be done for parents who already have a child with Prader Willi syndrome.

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