The Signs and Symptoms of Prader-Willi Syndrome

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Prader-Willi Syndrome or PWS is a very rare condition that can affect many parts of the patient’s body. Studies say that the disease is caused due to a flaw in one of the chromosomes of the patient’s body, but there is not much research to conclude what causes the genetic problem. In most of the cases, though, it is found that the condition happened because the patient did not get the correct copies of a particular chromosome from either or both of the parents. In some cases, PWS can also be caused due to an injury to the head or brain.

Regardless of how Prader-Willi Syndrome is caused, it can lead to very serious physical issues, such as weakened muscles and extreme hunger, as well as psychological problems, such as learning and behavioral issues. Besides, there is no way to prevent the condition as well. That is why it is recommended to see a doctor at the nearest community healthcare center as soon any symptoms of the condition are noticed.

Signs and Symptoms of Prader-Willi Syndrome

Infants might exhibit the symptoms of PWS very early. In most of the cases, the affected baby would have almond-shaped eyes or a disfigured head that is narrow at the temples. The mouth of the baby might also turn down at the corners and he/she might have a thin upper lip as well. Apart from that, most of the infants also show symptoms like:

  • Weaker limbs or poor muscle tone
  • Slow weight gain and/or an inability to feed
  • Wandering or crossed eyes
  • Poor response to sounds
  • A weaker or soft cry

In some cases, the baby would also appear extremely tired or exhausted all the time. Besides, as the child grows, he/she would start showing other symptoms of Prader-Willi Syndrome too. As the condition affects the hypothalamus of the brain, children with PWS would not get the feeling of being full. This can then lead to extreme hunger and obesity problems. In worst cases, children with PWS might even try to eat frozen foodstuff or food thrown in the garbage because of their uncontrollable hunger.

Children having Prader-Willi Syndrome would also have smaller hands and/or feet, would be shorter in height with respect to their age, and have extra body fat. They would not have enough body mass, have under-developed sex organs, and experience difficulty in learning how to talk, stand, sit, or walk as well. Some children also have temper tantrums, sleep problems, and other complications, such as a curved spine, little thyroid, and a lack of growth hormones. In severe cases, the child might also show symptoms like nearsightedness and other vision-related problems, lighter skin, different hair color, and a high tolerance for pain.

Prader-Willi Syndrome can also lead to an inability to keep the body temperature controlled in case of a fever or during hot or cold climate. Some PWS patients also have thick saliva that can lead to tooth decay or other dental problems. Osteoporosis or weak, thin, and fragile bones is also common among children having PWS. Besides, as the sex organs do not develop normally in such children, girls having the condition might never get a period. Even if they did get a period, it would start very late and might not be regular. In the case of boys with PWS, they might not develop any facial hair and their voice might not change after puberty as well. Note that the sex organs would be smaller in people with PWS, and they would not be able to reproduce either.

Treatment Options

Although there is no cure for Prader-Willi Syndrome yet, parents can help their children with the condition to have a good quality of life. Doctors at community healthcare centers recommend simple ways to manage PWS, which can help children to control their body weight and avoid other complications that the condition can later lead to. For infants with PWS, the doctor might recommend a high-calorie formula that would help him/her to maintain a healthy body weight. If the baby is not feeding well at all, special nipples or feeding tube can also be used to make sure that he/she gets enough amount of food.

For older children and teenagers with PWS, parents are advised to oversee their diet and eating habits. They should get a balanced diet that is low in calories to make sure that they do not gain much weight. Apart from that, they should also be encouraged to follow a physical workout routine to stay in shape and manage a healthy weight. In some cases, the doctor might recommend children with PWS to take extra calcium or vitamin D, but that would depend upon the symptoms he/she is experiencing.

The doctor might also prescribe medications to balance the levels of hormones, such as human growth hormone, testosterone, or estrogen, in teenagers with PWS. This would ensure that they have a better stature, good muscle tone, and the right amount of body fat. Sometimes, hormone replacement is also recommended to prevent osteoporosis. Additionally, if the child is experiencing behavioral problems, the doctor might prescribe antidepressants like selective serotonin reuptake inhibitors to control its effects. Therapy might also be recommended to deal with the sleep, mood, or speech-related problems caused by Prader-Willi Syndrome.