Prader-Willi Syndrome – Symptoms, Causes and Treatment

Prader-Willi syndrome is a genetic disorder that causes disorders in the physical, mental, and behavioral conditions of patients. The symptoms experienced by patients will change with age.

Diseases caused by these genetic abnormalities are extremely rare. According to research, Prader-Willi syndrome occurs in 1 in 10 thousand to 30 thousand births worldwide.

Symptoms of Prader-Willi Syndrome

Prader-Willi syndrome can cause disorders in physical and intelligence, as well as hormonal disorders in its sufferers. The disorder will change as the sufferer grows. Here’s the explanation:

Symptoms in infants

Signs and symptoms of Prader-Willi syndrome can be seen from birth. The symptoms are:

  • Defects in the shape of the face, namely the strange shape of the eyes, thin upper lip, narrow temples, as well as the shape of the mouth that goes down as if frowning.
  • The penis and testicles of baby boys are smaller than normal. The testicles also do not descend to the testicles. While in baby girls, the clitoris and labia minora are smaller than normal.
  • Weak muscles, seen from poor breastfeeding ability, did not respond to stimuli, and the sound of her crying sounded weak.

Symptoms in children and adults

As we age, the symptoms of Prader-Willi syndrome change. The following are symptoms that appear in children and adults:

  • The child’s ability to speak is impaired, such as not being able to pronounce words well.
  • He was slow to stand and walk, because his motor development was impaired.
  • Physical disorders, namely short stature, small limbs, abnormal spinal curvature, and visual impairment.
  • The child always feels hungry, so his weight rises quickly.
  • Small muscles and high body fat levels.
  • The development of sexual organs is inhibited, so that puberty is late and difficult to procreate.
  • Cognitive impairment, which is difficulty in solving problems, thinking, and learning.
  • Behavioral disorders, such as stubbornness, irritability, obsessive compulsive behavior, as well as anxiety disorders.
  • Sleep disorders, both abnormal sleep cycles and sleep apnea .
  • Not sensitive to pain.

When to go to the doctor

If you have blood relatives who suffer from Prader-Willi syndrome, you should discuss with your doctor if you are planning a pregnancy. Consultation with a doctor aims to find out the possibility of this disease in the fetus and how to deal with it.

Pregnancy screening should also be performed if there is a history of Prader-Willi syndrome in the family, to check for possible genetic abnormalities that cause the disease. The pregnancy screening includes blood tests, ultrasound, and gene testing. Pregnancy screening can be done in the first and second trimesters of pregnancy.

Pregnant women are also advised to perform pregnancy control. This routine checkup should be done once a month in the first and second trimesters, then once every two weeks in the third trimester. The purpose of routine control is not only to monitor fetal development, but also to detect abnormalities in the mother and her fetus.

Causes of  Prader-Willi Syndrome 

Prader-Willi syndrome is caused by an inherited genetic disorder. More than half of the cases of Prader-Willi syndrome are caused by the loss of a genetic copy of chromosome 15 inherited from the father.

The condition will cause disruption of the development and function of the hypothalamus gland, which is the part of the brain that plays an important role in regulating hormone release.

Hypothalamus that does not function normally can lead to disorders of diet and sleep, mood, growth, development of sexual organs, and body temperature regulation.

Diagnosis of Prader-Willi Syndrome

Doctors can suspect a person has Prader-Willi syndrome from the symptoms and signs that appear on the patient’s body. But to be more sure, the doctor will do a gene test by examining the patient’s blood sample.

Treatment of Prader-Willi Syndrome

Treatment of Prader-Willi syndrome aims to relieve symptoms and improve the quality of life of patients. Methods of treatment include:

Medications

Doctors may prescribe antidepressants or antipsychotics, especially in patients with behavioral disorders. However, the drug is not recommended for children under 18 years of age.

Therapy

The therapy performed varies, depending on the symptoms experienced by the patient. These therapies include:

  • Growth hormone therapy (growth hormone), to accelerate the rate of growth, increase muscle strength, and reduce body fat.
  • Sex hormone replacement therapy, namely the testosterone hormone for men, as well as the hormones estrogen and progesterone for women.
  • Weight loss therapy, among others by following a healthy diet and increasing physical activity or exercise.
  • Other therapies include therapies to improve speech and learning skills, as well as therapies to address sleep and speech disorders.

Operation

The operation should be performed on a baby boy whose testicles do not descend from the abdomen to the penile sac. Surgery is usually performed when the child is 1-2 years old, in order to reduce the risk of testicular cancer.

Complications of Prader-Willi Syndrome

There are various complications that can be experienced by patients with Prader-Willi syndrome, namely:

Obesity -related complications

Patients with Prader-Willi syndrome are more at risk of obesity due to constant hunger and lack of active movement. Patients with this disease are also at risk for type 2 diabetes, high cholesterol, and high blood pressure.

Complications due to hormone deficiency

Low hormone production can lead to infertility in most people with this syndrome. Lack of levels of sex hormones and growth hormone can also lower bone density to cause osteoporosis.

Prevention of Prader-Willi Syndrome

Prader-Willi syndrome is unavoidable. However, genetic consultation can help determine how high a person’s risk is of giving birth to a child with Prader-Willi syndrome.

In many cases, people who have had children with Prader-Willi syndrome will not have other children with the same condition. However, genetic testing is still needed to look for other methods of reproduction if the risk of giving birth to a child with Prader-Willi syndrome is significant.

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