Prader-Willi Syndrome is one of the very rare genetic disorders that brings various physical, mental, and behavioral changes. The main reason behind all the complications of this disease is uncontrolled hunger. So these patients are unable to control their body weight related to their age and height. Patients who suffer from Prader-Willi syndrome never feel full and they have an uncontrolled desire to eat.

There is no cure for Prader-Willi syndrome, but symptom management and alleviating the risk of complications will increase the quality of the patient’s life.


prader-willi syndrome

What are the symptoms of Prader-Willi Syndrome?

This is considered a complex genetic disorder and affects various body parts. The symptoms may vary from one individual to the other. Within childhood, Prader-Willi Syndrome will present with decreased muscle tone and the symptoms develop further as uncontrolled hunger when the child grows.

  • Hypertonia – Prader-Willi Syndrome starts presenting with week muscle tone. This is a common symptom that can observe within childhood.
  • Babies will have distinct features on their faces – Babies who bone with Prader-Willi Syndrome will have almond shape eyes and narrowed foreheads. The mouth is always turned down and the most distinctive feature is, that they will have a very thin upper lip.
  • Weak sucking reflex – as the babies have very weak muscle tone, they will have a poor reflex towards sucking so it becomes very difficult for the Mother to feed a child with Prader-Willi Syndrome
  • Poor responsiveness – baby is fatigue and present with unusual tiredness. In such cases, the baby cannot cry and they will have a weak cry.
  • Poorly developed genitals – In male babies, they will present with underdeveloped penis and scrotum, sometimes they are presented with cryptorchidism where the testicles have not descended to the scrotum.
  • Some symptoms continue from childhood to the rest of their life. These symptoms must be managed throughout life for the better management of the condition.
  • Uncontrolled hunger – This feature starts developing around the age of two years and continues to the rest of the life. Patients will have uncontrolled cravings where they will not feel full. As a result, they will gain weight resulting in obesity. Obesity is a serious problem that can call for numerous health issues. They always think and search for food and continue to have larger portions at a time.
  • Hypogonadism is a condition where there are not enough sex hormones are produced within the body. As a result of poor hormone concentration, there will be underdeveloped sex organs. Males will have a childlike penis. Females will experience delayed puberty as a result they will not commence menstruation until the age of 30. In some cases, they never start the menstrual cycle if no treatments are taken for the condition. Most of the time ladies with Prader-Willi Syndrome are infertile and both males and females will show poor secondary sexual characteristics.
  • Endocrine problems – There may be an underproduction of growth hormone where it affects the growth of the physical features and short stature is a prominent feature. They will have lower adrenal gland hormones and thyroid hormones. As a result, they will have poor responses toward infections and stress conditions.
  • Cognitive impairment – These patients will have impaired cognition so they will present with thinking, problem-solving, and learning difficulties.
  • Take time for the development of motor skills – The babies with Prader-Willi Syndrome will take more time for the development of their motor functions. So they have developmental issues and there may be difficulties for them to express their motor skills at the right age.
  • Issues related to speech – These babies will delay pronouncing words and they will have difficulties articulating the words.
  • Behavioral changes – Since childhood they will have different behaviors when compared to normal children. They are anxious and have a risk of developing several other mental disorders. These patients always express anger if they do not receive enough food according to their craving.
  • Sleep disorders –They will have sleeping disturbances and breathing difficulties during sleep. As they will not have enough sleep during the night they tend to sleep more during the daytime.

There may be symptoms other than the above-mentioned features. There may be vision problems, improper tolerance towards temperature, and high tolerance to pain.


What causes behind Prader-Willi Syndrome?

Prader-Willi Syndrome is identified as a genetic disorder and this is caused by a problem within the gene. But the actual mechanism behind this condition has not been identified so far. The genetic changes within chromosome 15 have been identified as the reason behind the disease.

The genetic composition is built with the combination of both maternal and paternal genes. The characteristics inherited from the mother and father will express by these genes. Depending on the recessive and dominant genes, the phenotype and the genotype characters are expressed.

The main reason for Prader-Willi Syndrome is the loss of certain genes within chromosome 15. Humans consist of 23 pairs of chromosomes where they contain chromatids from both the maternal and paternal sides. Most of the time the issue is on chromosome no 15 which comes from the paternal side. Around 70% of the patients diagnosed as they have lost the genetic information from the paternal side.

In some cases, the patient has inherited double maternal genes and no paternal gene on chromosome 15. Chromosome 15 is the gene that responsible for building the functions of the hypothalamus. Hypothalamus is the master gland of the human endocrine system where it controls the hormone production of the other endocrine glands. Loss of the hypothalamic function will alter the hormone production of the thyroid gland, adrenal gland and it alters the sex hormone production. Other than the endocrine functions hypothalamus is responsible for maintaining hunger, thermoregulation, and sleep pattern.


What are the possible complications of Prader-Willi Syndrome?


Patients who suffer from Prader-Willi Syndrome will have uncontrolled hunger, as a result, they keep on eating and they take large portions at a time. As their hormones are imbalanced they will develop more fat and reduced muscle mass. Due to lower muscle mass, they waste few calories and excessive calories get deposited as fat. Accumulation of fat and inactive life can bring them towards various non-communicable diseases such as hypertension, diabetes mellitus, and cardiovascular diseases.

Imbalance hormonal level

Due to lack of sex hormone production, there is a higher tendency of infertility within women. There are only a few women with Prader-Willi Syndrome who can become pregnant.

Sex hormones are an important factor that maintains bone density and composition, as these patients are not producing enough sex hormones there is a risk of getting osteoporosis in the future.

Development of binge eating disorder

As they keep on eating their stomach get enlarged with time. So they become able to tolerate a larger portion of food at a time. In this eating disorder, they can ingest a larger portion of food within a very short period.

Affect the whole life

Prader-Willi Syndrome is a syndrome that affects physical, mental, and social wellbeing. The changes within the behaviors make them isolated and less respectful. The physical changes can bring them various difficulties in their life. These changes affect their family life, education, and social status. As a result of all the above features, their quality of life can be reduced.


How do you diagnose Prader-Willi Syndrome?

This condition is diagnosed basically with the signs and symptoms of the patient. Further studies can be conducted to confirm the condition. Blood tests and genetic testing can be used for further studies.

What is genetic testing?

Genetic testing is a diagnostic test that is conducted to examine the structure of DNA. This test can be used to examine the chemical buildup of the DNA, which can be used to identify the mutations within the genes.


How to manage a patient with Prader-Willi Syndrome?

A combination of therapies can be used to obtain the best results from the disease condition. Early diagnosis is always important to avoid complications and to have positive outcomes. The cooperation of endocrinologists, dieticians, mental health professionals, and physiotherapists can result in the best outcomes.

During the infant period, there may be problems within the sucking reflex and the infant is unable to suck enough milk to fulfill the nutritional requirements. In this situation, the nutritional level must be maintained by using other alternative methods.

Treating the child with the growth hormone can prevent growth retardation and improve muscle mass while reducing fat deposition. Several tests are done before prescribing the growth hormone.

Sex hormone replacement therapy can be used during the adolescent period to have the desired development of the reproductive organs and to the proper development of secondary sexual characteristics. During the hormone replacement therapy, testosterone is used to treat male patients while both the estrogen and progesterone is used in the treatment for female. This can prevent the issues related to reproductive organs and help in the prevention of osteoporosis.

With medical management, weight control is an important factor to discuss. As this condition can call for obesity it is important to restrict the calorie intake and to improve the activity level. Proper exercises and dietary supplements can be used to full fill the nutritional requirements.

These patients with Prader-Willi Syndrome can be managed successfully with the use of physical therapies, speech therapies, and occupational therapies. So such therapies can help them in building their skills and improve the behaviors within the child.

Pharmacological management is required in some instances to cope with the behavioral changes and to limit the food intake. Making restrictions on food is important to avoid excessive food intake.

Anxiety and mood disorders can be managed with the help of a psychiatric professional.


What lifestyle changes you can make to manage Prader-Willi Syndrome?

If one of your family members is suffering from Prader-Willi Syndrome, it is essential to know about the background of the condition. Understanding the complications and the behavioral changes can help them to overcome their difficulties. Work cooperatively and involve with the decision-making and other treatment options for your loved one.

Try to prevent excessive food intake. Do not store high calories foods within the home. Always try to reduce the portion and avoid a high-calorie diet. Because it can affect badly on the patient’s health.

Try to make the patient engage in physical activity, improve the interest within the patient by participating in exercises with the patient. Arrange family activities that can make the patient physically active.

Several home remedies can be used to control the hunger and unnecessary craving within the patient. Proper diet plans and foods rich in fibers, eggs, and ginger can help in suppressing hunger.


How do you cope and support the patients with Prader-Willi Syndrome?

Coping with the stress related to the condition is also important. This is a challenge to look after a patient with physical, mental, and behavioral changes. It is important to consider your health while managing the condition of the patient. You can use stress coping strategies to overcome the stress.

Spend time with the others who look after similar patients, you can share experiences and talk about their stories which is helpful in stress releasing. Discuss the life events with others and spend some time freely thinking about yourself and your health.


How do you prevent Prader-Willi Syndrome?

There is no cure and this condition cannot be prevented. But the disease progression and the complications can be managed positively with the help of a health care team. Managing weight gain, physical activity, coping with behavioral changes can help in making the life of the patient easy. Complications related to obesity can be preventable. Noncommunicable diseases that come with obesity can be preventable. Other behavioral changes, anxiety, anger can be managed with the help of combined therapies.