Prader-Willi syndrome is a genetically determined syndrome of developmental defects. One of the characteristic symptoms of the disease is constant hunger, which leads to extreme obesity. In order to satisfy hunger, the child is obsessively looking for food. Maybe even steal them or take them from the garbage can. What are the causes and other symptoms of PWS? How is the treatment going?

Prader-Willi Syndrome(Prader-Willi Syndrome - PWS) is a rare genetic disease, the main symptoms of which are muscle hypotension (state of reduced muscle tone), hypogonadism (defect of the reproductive system) and extremeobesityresulting from the need to satisfy constantly felt hunger. Prader-Willi syndrome affects 1 in 20,000 newborns. In Poland, a dozen or so children from PWS are born every year. They are often colloquially called "eternally hungry children".

Prader-Willi syndrome - causes

The cause of PWS is a defect in the genes on chromosome 15. Scientists have discovered three genetic errors that result in the symptoms of PWS. Most often it is the so-called deletion, which is simply the loss of a fragment of a stretch of DNA. The deletion has two varieties: type I, the so-called large deletion, which causes the most severe symptoms of PWS, including a delay in psychomotor and intellectual development and a minor deletion of type 2.

The disease was scientifically described in the 1950s, but the first image of a child with PWS dates back to the 17th century. It is 6-year-old Doña Eugenia Martinez Vallejo, who is extremely obese in a portrait by the Spanish painter Juan Carreño de Miranda.

The second cause of the Prader-Willi syndrome is the so-called maternal disomnia. It is an abnormal cell division. The baby receives two copies of chromosome 15 from the mother, and the father's copy is lost. As a result, the maternal copy genes are down. The third mechanism is called the imprinting center mutation, i.e. the fragment of the gene that controls the most important area for PWS. A genetic error makes the genes given by the father present but not active.

Cause of PWS - symptoms

The first symptoms of PWS appear already during pregnancy, when the fetal movements are significantly impaired. They also appearfetal heart rhythm disturbances. Often the baby is placed in the uterus gluteally, which requires termination of the pregnancy by caesarean section. Further symptoms of PWS appear right after birth. From then until around the age of 3, signs such as:

  • low birth weight of the child
  • decreased muscle tone (hypotonia) - the child "pours" in front of the hands, moves poorly and does not cry; Hypotomia causes that in newborns with PWS there is a loss of facial expressions, problems with breathing as well as coughing up and clearing the airways
  • weak or no sucking reflex
  • underdevelopment of external genitalia
  • poor weight gain
  • slower psychophysical development - children with this syndrome sit down only around 12 months of age, they start to walk around 24 months;

From around the age of 3 the following appear:

  • hyperphagia- constant hunger probably caused by disturbances in the functions of the hypothalamic-pituitary axis and the regulation of endocrine pathways activated by the axis, which result in a lack of satiety. A patient with PWS simply does not feel full, no matter how much he eats. He feels a constant physical hunger that has nothing to do with appetite, that is, a suppressable sudden urge to eat something, and obsessively searches for food to satisfy this hunger. A patient with PWS can even steal food, look for it in garbage cans, or eat stale or frozen products. Hyperphagia leads to extreme obesity in patients with PWS.

Children with PWS have a high pain threshold

  • short stature (growth hormone deficiency is found)
  • small narrow hands and short wide feet
  • altered facial features - children with this syndrome have almond-shaped eyes, a narrow upper lip, corners of the mouth pointing downwards, a narrow bridge of the nose and a shortened distance between the temples (narrow forehead)
  • hypopigmentation - fair skin, hair and blue irises of the eyes
  • delayed puberty (the first menstruation in women occurs around the age of 30 - however, pubic and axillary hair may appear prematurely) and hypogonadism, which is a defect of the reproductive system, resulting in ovarian or testicular dysfunction
  • delayed emotional, motor and speech development, which may cause learning difficulties and even mild or moderate intellectual disability
  • sleep problems - the lighter ones, e.g. waking up during sleep, and the more serious ones, e.g. sleep apnea or narcolepsy,
  • frequent lateral curvaturespine
  • later in life there are behavioral disorders - bouts of unjustified anger, anger and even aggression. Children with this syndrome are extremely stubborn, display obsessive-compulsive behavior, autistic disorders (e.g. skin picking). Adult patients suffer from psychotic disorders and depression.

What are the symptoms of PWS?

Source: x-news / Dzień Dobry TVN

Important

Prader-Willi syndrome - complications

Prader-Willi syndrome can lead to the development of osteoporosis, type 2 diabetes, extreme obesity, stomach problems (compulsive overeating can cause choking, poisoning, acute gastric distension), as well as vascular thrombosis and circulatory and respiratory failure. It may even develop tumors.

Prader-Willi syndrome - diagnosis

Genetic and endocrinological tests are performed - the functioning of the hypothalamus and pituitary gland is assessed. Obesity and hypogonadism are diagnosed.

Prader-Willi syndrome - treatment

The newborn has feeding problems, therefore in some cases it may be necessary to feed using a gastric tube.

In addition, the patient is given growth hormone. If a child has problems with curvature of the spine, rehabilitation is necessary. At a later age, when behavioral and obsessive-compulsive behavior disorders appear, psychological care is necessary.

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Children with PWS are under the care of a geneticist, endocrinologist, dietitian and gastrologist, physiotherapist, ophthalmologist and psychiatrist.

Important

Obesity and Prader-Willi syndromeThe obesity disease is one of the most serious and most difficult complications in the treatment of PWS syndrome. In children with PWS, a strict nutritional regime is introduced from an early age in order not to develop obesity. An obese patient with PWS requires treatment of the so-called conservative, i.e. an appropriate diet supported by physical activity. However, it often happens that people with PWS develop obesity of the third degree, the so-called enormous (BMI - body mass index - 40+), or extremely enormous (BMI 60+). Since obesity in people with PWS is due to hyperphagia, surgical treatment of obesity, i.e. bariatric surgery, has little effect.

Children are thin only because they are watched over by their parents.

Source: x-news / Dzień Dobry TVN

Category:

Genetic diseases