Prader-Willi Syndrome
What is Prader-Willi Syndrome?
The Prader-Willi syndrome (PWS) is a rare syndrome that results from a defect in the genetic material. It occurs in around 1-9 per 100,000 births worldwide. Both boys and girls can be affected by Prader-Willi syndrome.
Affected people are short, have low muscle tension as a newborn and suffer from obesity later in life. Mental abnormalities and a reduced intelligence are also characteristic of Prader-Willi syndrome.
Also read: What is Klinefelter Syndrome?
causes
The cause of the Prader-Willi syndrome is a so-called “paternal deletion”. This means that a piece of the genetic information on chromosome 15 inherited from the father is deleted and is now missing. In most cases this deletion arises spontaneously (new mutation) and is not inherited.
Read more on the subject at: Chromosome mutations
It is assumed that this change in genetic material leads to a malfunction of the hypothalamus (part of the midbrain). The hypothalamus is an important control center of the body that is also responsible for the release of many hormones. In Prader-Willi syndrome, among others too little growth hormone released, which leads to short stature.
diagnosis
The suspected Prader-Willi syndrome can already be made shortly after the birth by the supervising pediatrician. The newborns stand out due to muscular weakness, poor drinking and weak newborn reflexes. When determining the hormone values in the blood, decreased values for the growth and sex hormones are noticeable.
Only a genetic test can confirm the diagnosis. Here the deletion on chromosome 15 is detected.
Read more on the subject at: Genetic examination
Do you recognize Prader-Willi syndrome by these symptoms?
Affected children are noticed immediately after birth because they have low muscle tension (“floppy infant”), are particularly small and light and do not drink properly.
Read more on the subject at: Muscle weakness in the baby
Children with Prader-Willi syndrome have a distinctive appearance: almond-shaped eyes, a thin upper lip, a narrow bridge of the nose, and small hands and feet. Affected children often squint too. In boys, a small scrotum is noticed early and there is often an undescended testicle.
Child development is delayed and development milestones such as walking and speaking are reached later.
Read more on the subject at: Child development
From around the age of three, those affected develop an uncontrollable appetite without a feeling of satiety when they eat. This pathologically increased appetite leads to obesity. Overweight can be associated with secondary diseases such as diabetes, sleep disorders and cardiovascular diseases.
Read more on the subject at: Overweight in children
Even during puberty there is no growth spurt due to the reduced release of growth hormones. The genitals also remain underdeveloped. Most Prader-Willi patients remain sterile.
Read more on the subject at: Short stature
Decreased intelligence and learning difficulties are also typical of Prader-Willi syndrome. Mental health problems such as impulse control disorders and mood swings are also common in those affected.
treatment
There is no cure for Prader-Willi syndrome.
The main focus of symptomatic therapy is a strict diet. Strict calorie restriction and an adequate supply of vitamins and other nutrients must be ensured here in order to prevent obesity and promote healthy development.
Physiotherapy can help improve children's motor development.
The administration of growth hormones can be started at an early stage. This should be done under strict supervision as the therapy can also have side effects, e.g. Foot edema or worsening of existing scoliosis. With the onset of puberty, sex hormones can be replaced.
Psychotherapy in the form of behavioral therapy can be used and special care should take place at school in order to promote social development.
Duration and forecast
There is no cure for Prader-Willi syndrome. However, early therapy can reduce its severity.
If the obesity can be managed through a strict diet, a normal life expectancy can be assumed. Serious secondary diseases such as diabetes and heart and vascular diseases can thus be prevented.
Affected, however, remain sterile for life and are more susceptible to infection.
