Prader-Willi Syndrome
The causes
Main characteristics of PWS
It is a freak of nature and can affect anyone. On average, every 15,000th newborn is born with Prader-Willi Syndrome, named after the Swiss paediatricians Andrea Prader, Alexis Labhart and Heinrich Willi, who first described this complex genetic disease in 1956.
A defect in chromosome 15 is the cause of Prader-Willi Syndrome. This defect, which is already present during cell division at the beginning of pregnancy, causes a change in processes in the diencephalon, more precisely in the hypothalamus, an important control centre in the human organism, where not only our food intake is controlled, but also our body temperature, blood pressure, breathing, sexual and emotional behaviour and sleep rhythm. The hypothalamus also regulates when and how much of a hormone is produced, e.g. for growth.
- Lacking sense of satiety, eating cravings, binge eating
- Challenging behaviour, such as outbursts of anger, and psychological changes
- Muscle hypotonia/dwarfism/high pain threshold
- Skin picking due to a disrupted impulse control
- Underdevelopment of sexual organs, often undescended testicles in boys
- Cognitive impairments, mental retardation/ speech impairments
The causes
It is a freak of nature and can affect anyone. On average, every 15,000th newborn is born with Prader-Willi Syndrome, named after the Swiss paediatricians Andrea Prader, Alexis Labhart and Heinrich Willi, who first described this complex genetic disease in 1956.
A defect in chromosome 15 is the cause of Prader-Willi Syndrome. This defect, which is already present during cell division at the beginning of pregnancy, causes a change in processes in the diencephalon, more precisely in the hypothalamus, an important control centre in the human organism, where not only our food intake is controlled, but also our body temperature, blood pressure, breathing, sexual and emotional behaviour and sleep rhythm. The hypothalamus also regulates when and how much of a hormone is produced, e.g. for growth.
Main characteristics of PWS
- Lacking sense of satiety, eating cravings, binge eating
- Challenging behaviour, such as outbursts of anger, and psychological changes
- Muscle hypotonia/dwarfism/high pain threshold
- Skin picking due to a disrupted impulse control
- Underdevelopment of sexual organs, often undescended testicles in boys
- Cognitive impairments, mental retardation/ speech impairments
Disorders
The hypothalamus and neuronal system in people with Prader-Willi Syndrome function differently than they do in healthy people. However, the range of this disorder varies from case to case and can be slight or very severe. People with PWS are usually small in stature. Their muscles are rather weak, especially in the early years of their life, which is why exercise is often exhausting for them. However, if they are offered interesting movement stimuli, such as swimming, riding or dancing, people with PWS like physical activity just as much as their peers.
People with PWS don’t know what “being full” means. Due to the hypothalamus disorder, they do not feel full, which is why they cannot regulate their eating habits. This is how they develop an insatiable appetite.
People with PWS can be very inventive in tracking down food. Life-endangering obesity and corresponding secondary diseases, such as diabetes or cardiovascular diseases, are possible consequences of compulsive eating.
Other life-threatening health situations can also occur. For this reason, people with PWS must learn how to best handle food very early on with the help of their parents and caregivers. A balanced, calorie-reduced mixed diet is essential, which should be clearly regulated and structured in the daily routine – like everything else in the world of people with PWS. New or unexpected situations often push people with PWS to their limits and are hard for them to deal with. Stubborn, repetitive questions are their strategy for restoring the security they need. But an outburst of rage can also be a consequence, whereby their frustration is unloaded due to the lack of impulse control. People with PWS can also be as pleased as punch! They are open and communicative. If they have grown close to another person, they are normally very affectionate towards them. While they are very fond of adults, children with PWS often don’t get along very well with their peers. Many people with PWS are very talented when it comes to fine motor skills.
Rituals are also important to them. They feel safe when everything is in order. It is very difficult for people with PWS to perceive their own feelings and those of other people, which sometimes leads to considerable problems in cohabitation.
There is no known cure for PWS. But the disease can be steered in a positive direction through a variety of therapies and measures, e.g. through the early use of pedagogical-psychological support to promote psychosocial development. For some years now, doctors have also been starting to administer growth hormones to babies. This has a decisive influence on the physical development of people with PWS. Since then, a new generation, the so-called second generation of people with Prader-Willi Syndrome has been growing up.