Prader Willi Syndrome Definition, Reason, Symptoms, Treatment & Prevention

Prader Willi Syndrome Definition, Reason, Symptoms, Treatment & Prevention

Definition

Prader-Willi syndrome or  Prader-Willi syndrome is a genetic disorder characterized by impaired growth, development, and intelligence. This condition is a rare disorder that is very rare. 

One of the hallmarks of people with Prader-Willi syndrome is constant hunger. The main feature of Prader-Willi syndrome is constant hunger.

Sufferers have a desire to always eat (hyperphagia), as if never feeling full. That is why, people with this syndrome usually have difficulty controlling their weight.

In addition, children with  Prader-Willi syndrome are usually much shorter than other children their age. This condition is usually seen when they are 2 years old.

The following is a complete explanation of what  Prader-Willi syndrome is 

Prader-Willi syndrome

Medical specialist Child specialist
Symptoms Excessive appetite, obesity, muscle weakness
risk factor Not known
diagnosis Symptoms suggest a strong suspicion of Prader-Willi syndrome, which can be confirmed by genetic testing
Treatment  This condition has no cure, and the management of overeating is of particular concern
Drug  Growth hormone injections
Complications Diabetes, heart failure, difficulty breathing
When to see a doctor? If there are symptoms similar to Prader-Willi syndrome

Prader Willi Syndrome Symptoms 

The main Prader-Willi Syndrome symptoms are: 

  • Weakness of the large muscles that begins to show shortly after birth
  • In the first year, children experience growth failure (weight and height are lower than children of their age)
  • At the age of 1–6 years, children feel constantly hungry, so they eat very often and experience a very significant increase in body weight
  • Thin lips
  • Late sexual development compared to his age
  • Children have learning difficulties

Other additional symptoms can include:

  • When the mother is still pregnant, the movement of the fetus in the womb is less frequent than it should be
  • While sleeping, the child often does not breathe for several minutes
  • Abnormal hair, skin and eye color
  • Sticky saliva
  • Impaired visual acuity

Prader Willi Syndrome Reason 

Prader-Willi syndrome is caused by an abnormality in a gene in the body. The problem lies with chromosome number 15. 

However, until now, it is not clear why these chromosomes can experience abnormalities. 

Abnormalities in these chromosomes affect the normal function of the hypothalamus in the brain. 

In fact, this area of ​​the hypothalamus controls hunger and thirst and secretes hormones associated with growth and sexual development.

Risk Factors 

There are no known risk factors for Prader-Willi syndrome. In most cases, the condition is caused by a genetic error that is random and not inherited.

Diagnosis 

If your child has at least three of the main symptoms above, he likely has Prader-Willi syndrome. 

To be sure, it is necessary to carry out a medical consultation with a doctor and a genetic examination.

Prader Willi Syndrome Treatment 

Prader-Willi syndrome is incurable. Treatment only aims to overcome symptoms and help children to be able to carry out their daily activities optimally.

However, the thing that needs special attention is the handling of overeating which generally occurs when children are 1–6 years old. 

In addition, parents must provide healthy food for children, such as fruit and vegetables to prevent children from becoming obese.

To correct growth and development disorders in children, doctors often also give growth hormone injections from infancy.

Prevention 

There is no action that can be taken to prevent Prader-Willi Syndrome.

However, you should first consult with your doctor if you have a child with Prader-Willi syndrome and want to have another baby. 

Complications 

Complications of Prader-Willi syndrome are often related to overweight or obesity in children, the result of uncontrolled eating habits. 

Besides obesity, some of the other common complications are:

  • Diabetes
  • Heart failure
  • Difficulty breathing

When to See a Doctor?

In some cases, Prader-Willi syndrome can be suspected from birth because babies born tend to have weak muscle tone. 

If it is not diagnosed from birth, the child should immediately be examined by a pediatrician if there are any of the above Prader-Willi syndrome symptoms.

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