Prader Willi Syndrome – Pictures, Symptoms, Causes, Treatment

By | May 21, 2015

Prader Willi syndrome is a genetic disorder that causes various physical as well as mental problems. Children affected with this syndrome will always be hungry which leads to overweight. The symptoms begin as early as 2 years old baby and the child will have abnormal physical features with poor muscle tone. Very often, the child will not survive this syndrome, and even if it survives it would be obese with intellectual disability. No treatment is available for PW syndrome but the symptoms can be managed by medications and therapy.

Symptoms :

  • 0 to 10 Months :

Signs of Prader Willi syndrome are present right from birth. The infant will have poor muscle tone and the baby would feel floppy when being held. It would have distinct features like narrowed head, thin lips; almond shaped eyes and turned mouth. Due to reduced sucking reflex the infant would not be able to suck properly and it may not survive. It would not gain weight as normal child and it would not have eye coordination.

  • 1 to 5 Years :

The child will always be hungry with constant craving for food which leads to rapid weight gain. The child will eat frequently often consuming large volumes of food and will develop abnormal food seeking behaviors like eating garbage or anything available. The child’s sexual organs are not developed like healthy children and he/she will have problems in attaining puberty. Due to very low muscle tone the child would have poor growth with small hands/feet and under-developed body.

The child would have poor intellectual ability and will have difficulty in reasoning and thinking which makes him difficult to understand and learn. The child will have delayed development and he may not be able to sit, stand and walk like other children. In addition children with this syndrome will have speech problems, vision problems, and behavioral problems and sleep problems.

Causes :

Prader Willi syndrome is inherited by birth and is caused by gene mutation. Chromosome 15 is not the same like healthy ones and will undergo mutation causing this problem. Children with PW syndrome will have different set of genes responsible for sex characteristics which leads to puberty problems. In some children genes corresponding to chromosome 15 are absent and in other children two copies of the genes are inherited from one parent (either from father or mother) but in healthy children one copy will be inherited from father and the other from mother.

Complications :

Children born with PW syndrome will be overweight due to constant urge for eating. This would make them more prone to develop diabetes, cardiovascular diseases, and hypertension and sleep related problems. Due to obesity, these children are prone to develop stroke, heart attack and various other behavioral problems. They are prone to develop liver problems and joint problems also due to poor muscle tone.

Due to poor sexual development they may not attain puberty. Female child with this problem will not get menstrual cycle until she becomes 30 years old. This would cause problems in pregnancy. Normal level of secretion of sex hormones will not be there in these people. They are more prone to develop bone related problems like osteoporosis due to weak bone structure. Due to poor physical and mental development these children will have difficulty in socializing and may not have normal childhood like others.

Diagnosis :

Prader Willi syndrome can be detected in infants by observing the symptoms like weak cry, poor feeding ability, abnormal facial features like almond eyes and narrowed temples, and overall retarded growth. Your doctor will look for the signs like excess of eating, excess of weight, immature sex organs, poor muscle tone, poor intellectual ability and delayed development in young children. To confirm the diagnosis he would do genetic testing in the specialized laboratory.

Images, Pics, Photos and Pictures of Prader Willi Syndrome :

Prader Willi Syndrome Prader Willi Syndrome Prader Willi Syndrome

Treatment :

Prader Willi syndrome is inherited and not much can be done for curing it. Treatment is given only for controlling the symptoms. It is necessary to start the treatment in early childhood to prevent many complications. PW syndrome cannot be treated with one doctor alone but a team of doctors from various departments have to attend the child. For infants with this syndrome your pediatrician will include calorie rich formula foods for the baby so that he/she can gain weight. Due to reduced muscle tone the baby cannot suck like other babies and hence it becomes necessary to monitor his growth.

Your doctor will have to check his level of hormone and start with supplemental growth hormone to build up muscle growth and development of the child. The child’s body may not be able to convert food into energy that is demanded by the body due to low level of human growth hormone. Endocrinologist will be able to suggest suitable remedies for lack of growth hormone. The same expert will also give suitable treatment for low level of sex hormones through hormone replacement therapy.

For checking the growth of bone you can take help from orthopedic expert so that you can prevent osteoporosis. As the child continues to grow he would start eating large quantities of food. To avoid this situation, you can consult a dietician who will design suitable diet with required calories for the child to manage his weight. A psychotherapist can assist your child with behavioral problems and socializing skills. Similarly you need to get help from speech therapist if he has slurred speech and occupational therapist for resolving day-to-day tasks.

It would be challenging for the parents to bring up the child with PW syndrome. You need to be very careful while lifting the baby since he may slip from your hands due to poor muscle tone. As he grows, you should stick on to the advice of the dietician since he may end up eating more and become overweight. Lock the cupboards and refrigerators when you are not in house since the child may steal and eat the food due to the craving for food. Encourage the child to practice regular exercises that may improve his stamina and overall growth. Discuss with your doctor about getting help from support groups wherein you can share problems associated in bringing up the child affected with PW syndrome.

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