Prader-Willi syndrome is a genetic disorder that causes physical, mental, and behavioral disorders in sufferers. Symptoms experienced by patients will change with age.
Diseases caused by genetic disorders are fairly 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 abnormalities in physical and intelligence, as well as hormonal disorders in sufferers. These abnormalities will change as the patient grows. Here's the explanation:
Symptoms in babies
Signs and symptoms of Prader-Willi syndrome can be seen from birth. Symptoms include:
- Facial deformities, namely odd eye shapes, thin upper lips, narrow temples, and a drooping mouth shape that looks like a frown.
- Boys' penises and testicles are smaller than normal. The testes also do not descend into the testicles. Whereas in baby girls, the clitoris and labia minora are smaller than normal.
- Weak muscles, which are evident in his poor milk-sucking ability, do not respond to stimuli, and his cries sound weak.
Symptoms in children and adults
As you age, the symptoms of Prader-Willi syndrome will change. The following are symptoms that appear in children and adults:
- The child's speaking ability is hampered, for example unable to pronounce words well.
- Late standing and walking, because motor development is hampered.
- Physical abnormalities, namely short stature, small legs, abnormal spinal curvature, and visual disturbances.
- Children always feel hungry, so they gain weight quickly.
- Small muscle and high body fat content.
- The development of sexual organs is hampered, so that puberty is delayed and it is difficult to get offspring.
- Cognitive disorders, namely difficulties in solving problems, thinking, and learning.
- Behavioral disorders, such as stubbornness, irritability, obsessive compulsive behavior, and anxiety disorders.
- Sleep disturbances, both abnormal sleep cycles and sleep apnea.
- Not sensitive to pain.
When to go to the doctor
If you have a blood relative who suffers from Prader-Willi syndrome, you should discuss with your obstetrician if you are planning a pregnancy. Consultation with a doctor aims to determine the possibility of this disease in the fetus and how to overcome it.
Pregnancy screening is also necessary if there is a history of Prader-Willi syndrome in the family, to check for the possibility of a genetic disorder causing this disease. 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 do pregnancy control. This routine check needs to be done once a month in the first and second trimesters, then 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 fetus.
ReasonsyndromePrader-Willi
Prader-Willi syndrome is caused by an inherited genetic disorder. More than half of Prader-Willi syndrome cases are caused by the loss of the genetic copy of chromosome 15 that is inherited from the father.
This condition will cause developmental and functional disorders 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 cause disturbances in eating and sleeping patterns, mood, growth, development of sexual organs, and regulation of body temperature.
Prader-Willi Syndrome Diagnosis
Doctors can suspect someone has Prader-Willi syndrome from the symptoms and signs that appear on the patient's body. But to be sure, the doctor will do a gene examination by examining the patient's blood sample.
Prader-Willi Syndrome Treatment
Prader-Willi syndrome treatment aims to manage symptoms and improve the sufferer's quality of life. Treatment methods include:
Drugs
Doctors may prescribe antidepressants or antipsychotics, especially in patients with behavioral disorders. However, the drug is not recommended for children under the age of 18.
Therapy
Treatment is carried out differently, depending on the symptoms experienced by the patient. These therapies include:
- Growth hormone therapy (growth hormone), to accelerate growth rate, increase muscle strength, and reduce body fat.
- Sexual hormone replacement therapy, namely testosterone for men, and estrogen and progesterone for women.
- Weight loss therapy, among others, by following a healthy diet and increasing physical activity or exercise.
- Other therapies include therapy to improve speech and learning skills, as well as therapy to treat sleep and speech disorders.
Operation
Surgery should be performed on baby boys whose testicles do not descend from the abdomen into the scrotum. Surgery is usually done 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 people with Prader-Willi syndrome, namely:
Obesity-related complications
People with Prader-Willi syndrome are more at risk for obesity due to constant hunger and inactivity. Patients with this disease are also at risk of developing type 2 diabetes, high cholesterol, and high blood pressure.
Complications due to hormone deficiency
Low hormone production can cause infertility in most people with this syndrome. Lack of sex hormone and growth hormone levels can also reduce bone density and cause osteoporosis.
Prader-Willi Syndrome Prevention
Prader-Willi syndrome cannot be prevented. However, a genetic consultation can help determine how much risk a person has of giving birth to a child with Prader-Willi syndrome.
In many cases, people who have had a child with Prader-Willi syndrome will not have another child with the 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 high enough.