Prader-Willi Syndrome

The Prader-Willi Syndrome is a genetic disorder that causes mental and physical impairment and leads to abnormal eating behavior. The condition is rare and affects both men and women.

What is Prader-Willi Syndrome?

The Prader-Willi Syndrome (PWS) is a genetic disease that occurs in both men and women. It is caused by a genetic defect on chromosome 15. The modified gene leads to mental and physical disabilities as well as metabolic disorders.

A particular characteristic of Prader-Willi syndrome is the uncontrollable desire to eat, which leads to pronounced obesity in the patient. The disease was named after the Swiss doctors Andrea Prader and Heinrich Willi, who first described the symptoms in 1956. The chromosome on which the causative genetic defect is located was found in 1981. Prader-Willi syndrome occurs only rarely, it is estimated that around 350,000 people worldwide are affected.

causes

The cause of the Prader-Willi Syndrome is a mutation of chromosome 15. There are three different variants, but they all lead to the same symptoms. In 70% of cases, the trigger is the absence (deletion) of part of the paternal chromosome 15.

In around 29% of the cases, chromosome 15 is duplicated from the mother, instead of once from the father and once from the mother, as is normally the case. The third, very rare variant is a special mutation called an imprinting error.

The genetic modification causes the hormone release in the hypothalamus to not proceed normally. The resulting undersupply of hormones causes the physical and mental disorders.

Symptoms, ailments & signs

Congenital muscle weakness (muscle hypotonia) is one of the typical symptoms of Prader-Willi syndrome. The basic tension of the skeletal muscles is lower than in other people. Those affected are also often less sensitive to pain than other people.

The mental and physical development level of those affected is below what would be expected given their age. Prader-Willi syndrome is associated with moderate intellectual disabilities. At this level of intellectual disability, the intellectual age is between six and nine years. This corresponds to an IQ of 35 and 49. For comparison: An IQ of 85 to 115 is considered normal.

Another characteristic of Prader-Willi syndrome is an increased appetite and a disturbed feeling of satiety. Affected people often eat more than they need. Both continuous eating and binge eating are possible. As a result, most people with Prader-Willi syndrome are overweight or obese. Obesity often develops in early childhood. Diabetes is another possible symptom of Prader-Willi syndrome.

Those affected typically suffer from underactive gonads (hypogonadia). You can be sterile as a result. External signs of Prader-Willi syndrome are almond-shaped eyes and a triangular mouth area. Hands and feet are often unusually small - short stature also occurs. In many cases, visual disturbances are also among the symptoms. Myopia and strabismus or strabismus are particularly common.

Diagnosis & course

The symptoms of the Prader-Willi Syndrome are different and vary from case to case. Some children already stand out as unborn during pregnancy due to a lack of activity. As infants, they drink little and have slack muscles. The children have almond-shaped eyes and a triangular mouth, they suffer from visual problems, they are often nearsighted or cross-eyed.

The hands and feet are smaller than normal, and the overall height is also below average, as too few growth hormones are produced in Prader-Willi syndrome. The reproductive organs are underdeveloped, and undescended testicles are common in boys. Puberty is delayed, gender characteristics are poorly developed, and most people are sterile.

There may be mental disabilities. In the further course, at around three years of age, an uncontrollable eating addiction begins to develop. The children eat everything they can find, including rubbish. The diagnosis is made based on the symptoms and various tests, such as the determination of hormones in the blood and examination of the thyroid gland. A genetic test can reliably prove whether the Prader-Willi syndrome is present.

Complications

The complications that are to be expected with Prader-Willi syndrome are primarily due to the severe obesity from which those affected almost always suffer, as well as to the consequences of metabolic diseases, especially diabetes mellitus. The often very high obesity can also cause severe orthopedic damage. Early orthopedic damage to the lower extremities has already been observed in children.

In particular, the weight-bearing joints of the lower extremities, i.e. hips, knees and ankles as well as the feet often show signs of overload and wear and tear due to being overweight. Life-threatening complications are to be expected in the Prader-Willi syndrome, especially if the excess weight leads to damage to the blood vessels and internal organs.

Since patients with Prader-Willi syndrome do not have a feeling of satiety, there is also the risk that they will overstretch the stomach until it ruptures. This risk is increased by the fact that people do not have to vomit, feel full or pain when they overeat. Breakthroughs in the stomach often go unnoticed at first. The patients therefore run the risk of bleeding to death internally as a result of the stomach tears.

In addition, sleep apnea syndrome can take on life-threatening forms in patients suffering from Prader-Willi syndrome. Sleep apnea is a condition in which those affected experience pauses in breathing during sleep.

When should you go to the doctor?

Babies with Prader-Willi Syndrome need a lot of support during and after birth. Parents should consult the responsible doctor directly so that the necessary examinations and treatments can take place at an early stage. Depending on the severity of the condition and the number and severity of the malformations, regular visits to the doctor are then necessary. If unusual symptoms occur, for example fever, swallowing disorders or visual problems, the respective specialist must be consulted. In addition to the pediatrician, internists, surgeons, ophthalmologists, ENT specialists and other specialists can also be involved, depending on the symptoms.

The affected child also needs physical therapy support. In the case of severe malformations, a rehabilitation measure is necessary in the first few years of life, which is usually carried out with the mother and the child. If the symptoms get worse, a visit to the pediatrician is necessary. If an accident or fall occurs as a result of the malformations, it is best to call the emergency doctor. Psychological counseling is advisable if the condition has a negative impact on the mental state of the child or the relatives.

Treatment & Therapy

Treatment of the Prader-Willi Syndrome depends on the symptoms. Since the disease has a reduced hormone release, hormone replacement therapy is carried out. The earlier you start giving hormones, the better the symptoms can be alleviated.

Children with Prader-Willi syndrome usually need comprehensive care and special support. Weight must be reduced and food intake controlled. Edibles have to be locked away, as patients with Prader-Willi syndrome eat everything they can find, regardless of whether it is edible or not. That means they also eat animal feed, waste, or frozen food. Many symptoms usually improve when the patient loses weight.

Behavioral therapy can help with adherence to the diet. Physiotherapy helps to improve muscle tone and counteract the flaccid muscles. Speech therapy supports the ability to speak. Eye problems usually require treatment by an ophthalmologist and eyesight should be checked regularly. The children need to be given mental support, and it may be necessary to attend special schools.

Sometimes with Prader-Willi syndrome heart problems and spinal curvature develop as the disease progresses, caused by extreme obesity. In addition to weight reduction, orthopedic and internal therapy is necessary here.

prevention

Against that Prader-Willi Syndrome cannot be prevented because it is genetic. Early diagnosis and rapid therapy are important in order to avoid serious consequential damage caused by Prader-Willi syndrome.

Aftercare

Prader-Willi syndrome is a genetic, chronic disease that cannot be cured. Medical treatment is purely symptomatic. Therefore, aftercare in the classic sense is not possible. Affected children and adults with Prader-Willi syndrome are, however, affected by life-threatening obesity and other health problems for the rest of their lives.

For this reason, regular check-ups and intensive dietary care are necessary. These measures are usually ordered and monitored by a pediatrician or a general practitioner. Primarily, the body weight of the affected children or adults is checked. Regular blood tests are also common.

Sometimes urine, stool, or other tests are also required. The attending physician decides on the frequency of the check-ups and the necessary follow-up measures. In many cases, affected patients are placed in specialized long-term care facilities that also include medical care.

Apart from that, inpatient stays in rehabilitation clinics are mostly necessary in order to develop a therapy concept that is suitable for the patient. At least one or two medical examinations per week are usual for such accommodation. Additional therapeutic measures may be necessary in the course of obesity therapy.

You can do that yourself

Children suffering from Prader-Willi syndrome need permanent support in everyday life. The relatives should consult a nutritionist and work with him to create a diet that corresponds to the child's eating habits. In addition, behavior therapy may be necessary. The child should also not have access to potentially harmful food, waste or inedible products. If the child has eaten something unsuitable, the emergency doctor should be called.

In order to counteract the usually high emotionality of the child, sport and an open approach are available as accompanying measures to medical treatment. It is important for the child to have a regular daily routine that cannot be deviated from. It is advisable to create a long-term plan to enable the child to live as stable as possible without sudden changes in everyday life. Sick children need a lot of attention and make great physical and emotional demands on their parents. This makes phases of rest and relaxation all the more important for relatives and friends who take care of the child. A therapist can help to create free spaces and to deal with emotional conflicts.

Guardians should keep in close contact with doctors and tell them about any unusual symptoms. A comprehensive therapy concept enables people who suffer from Prader-Willi syndrome to live a relatively symptom-free life.