Hereditary obesity: Prader-Willi syndrome. Prader-Willi syndrome as a genetic pathology Prader-Willi disease

Prader-Willi syndrome is a rare genetic pathology. The development of the disease is associated with the following processes:

• dysfunction of genes;
• no expression

The main function of genes is to enable the function of the genetic system. Manifestations in males are lack of facial hair.

Puberty is accompanied by a lack of hair. The description of the pathology dates back to the fifties. This syndrome is observed relatively rarely.

The pathology has been described by many scientists.

Prader–Willi syndrome - etiology

Characteristics of the pathology:

• absence of seven genes;
• expression process

Genes are passed on from the father. With chromosomal pathologies of the mother, a. The disease is manifested by the absence of a copy of genes.

Prader–Willi syndrome - signs

Symptoms are the following clinical manifestations:

• process of joint dysplasia;
• presence of hypotension;
• overweight;
• decreased coordination of movement;
• decreased bone density;
• having small feet;
• presence of a small brush size;
• short stature;
• sleepy state;
• slanted eyes;
• the spine is curved

External signs:

• thick consistency of saliva;
• decreased sexual function;
• violation of dental development;
• infertility

Other signs:

• mental disorders;
• speech disorders;
• puberty disorder;
• motor function decreases

Other manifestations in patients:

• the size of the bridge of the nose is large;
• presence of a narrow forehead;
• presence of a high forehead;
• presence of a narrow lip

Prader–Willi syndrome – diagnostic methods

Diagnostics are carried out in the womb. Signs of intrauterine damage:

• fetal mobility is impaired;
• the child’s position is disturbed;
• presence of polyhydramnios

Diagnosis includes genetic testing. The risk group is a newborn child with decreased muscle tone. Similar diseases:

• signs of Down syndrome;
• myopathy

Late symptoms:

• Caesarean section has signs;
• breech presentation;
• decreased sucking function;
• muscle weakness;
• breathing problems;
• presence of hypogonadism

The similarity of external characteristics of children among themselves.

Similarities between Angelman and Prader–Willi syndrome

The pathological syndromes are similar. What unites them is a mutation. An enzyme is a gene product.

The disease is similar to the name of the pediatrician.

Prader–Willi syndrome - therapy

Congenital origin of the disease. Treatment options have not been studied. What are the methods of therapy?

There is a treatment procedure. Treatment methods:

• massage;
• specific treatment;
• speech pathologist;
• speech therapist

Drug therapy includes:

• use of growth hormone;
• gonadotropins

Manifestations of signs in the male sex:

• decreased gonads;
• micropenia;
• signs of cryptorchidism

In the absence of testicular descent, surgery is used. Hormone therapy is also used. Dietary food includes the following:

• reduction of carbohydrates;
• fat reduction

Control is related to nutrition. The patients' appetite is not impaired. Complications:

• difficulty breathing at night;
• signs

Prader–Willi syndrome - prognosis

The syndrome may develop during secondary birth. The reason is a gene failure. Risks are reduced in gene deletion. The risk is 50 percent with a mutational lesion.

But an important method of prevention is genetic testing. Signs that are saved:

• speech development is delayed;
• delayed mental development

Developmental delays may include the following:

• intense nature;
• average nature of the lag;
• weak nature of the lag

More often, average intelligence is diagnosed in such patients. These children have good memory. Has a long-term character.

Children have the following properties:

• reading ability;
• passive vocabulary;
• speech understanding is not impaired;
• auditory memory is impaired;
• math skills are average

Symptoms of the disease:

• increased appetite;
• increase in the hormone ghrelin

These signs may indicate a decrease in the number of cells in the hypothalamus. More rarely, these signs are not associated with this.

Lifespan

With this disease, life expectancy is reduced due to respiratory disorders. But with timely diagnosis and therapy, the quality of life improves. Life expectancy in this case will depend on the following:

• correctness of treatment;
• the presence of severe or moderate level of damage;
• symptoms of respiratory distress

A person can die in their sleep with this syndrome. The cause is respiratory failure, suffocation. If the pathology is characterized by external signs, then surgical intervention is used.

It is the operation that prolongs a person’s life and improves its quality. After all, external signs are of great importance during the course of the disease. But therapy should be carried out under the supervision of a doctor.

Prader-Willi syndrome(SPV) is a medical term that includes the concept of a rare genetic disease associated with the absence of genes, pathologies in the functioning of genes or their parts of the fifteenth chromosome, passed on from the father.

This phenomenon was first described by Swiss physicians A. Prader and H. Willi in the mid-50s, which is why the syndrome was named in their honor.

The risk of the disease is 1 in 15,000 newborns.
The course of the disease and symptoms manifest themselves in different ways and depend on the specific situation.

Prader-Willi syndrome causes

The cause of the disease is the process of deletion and mutation of the parent copy of the gene. The carrier copy is the 15th chromosome. As a rule, due to mutations and other genetic processes, a particle of it may be lost. Other genetic processes include: chromosome translocations and gene deletions, random mutations, unipaternal disomy.

Imprinting affects the above genes by reducing or removing the activity of the maternal copies, so that only the parental copies are expressed. The pathology in question is the result of the loss of a copy of the parental gene.

The process of deletion of the maternal chromosome of the same region is the forerunner of the appearance, which, along with Prader-Willi disease, is the first in medical science to be described by human imprinting pathologies.

The likelihood of painful processes manifesting in a newborn in a family where there is already a carrier of this disease is associated with the genetic mechanism that gave rise to the disorder. The risk of the syndrome occurring in a newborn is less than one percent if the child has a normal process of gene deletion and unipaternal disomy. In the event of a mutation in the region associated with imprinting, the probability of the disease increases to fifty percent.

Chromosome translocations in twenty-five percent of cases lead to the manifestation of the syndrome in the next child. Diagnosis of the above processes and mechanisms occurs through prenatal testing.
Observations in humans and animals indicate that the occurrence of PWS is directly related to the deletion of 29 gene copies.

Symptoms

Scientists have described a number of manifestations of the disease, which make it possible to make a preliminary conclusion about the possibility of the disease, even if not all of them are expressed.

Intrauterine signs:

• decreased intrauterine fetal movement;
• incorrect intrauterine position;
• high content of intrauterine fluid.

Signs at birth:

• childbirth through surgical intervention due to breech presentation of the fetus;
• lethargy;
• low pressure;
• poorly developed sucking reflex, which leads to feeding difficulties;
• respiratory reflex disturbances.
• hypogonadism

Signs in early childhood:

• problems in physical development;
• difficulties in feeding the child;
• difficulties of mental development;
• drowsiness and fatigue;
• strabismus;
• manifestation of scoliosis.

Signs of Prader-Willi syndrome in early childhood

Signs in childhood:

• problems in the development of the speech apparatus;
• motor skills and coordination disorders;
• weight gain;
• sleep disturbance;
• signs of scoliosis.

Signs of the syndrome in childhood

Signs in adolescence:

• disorders of puberty;
• short stature;
• increase in adipose tissue;
• flexibility

Prader-William syndrome in adolescence

Signs upon reaching adulthood:

General external signs (for adults):

• large nose size;
• short limbs, narrow fingers;
• sensitivity of the skin to mechanical and climatic influences;
• excessive accumulation of adipose tissue;
• forehead high and narrow;
• the eyes are almond-shaped, the eyelids are thin and drooping;
• hair and skin color is lighter than that of family members;
• delays in sexual development;
• motility disorders.

Neurocognitive abnormalities

Prader-Willi syndrome creates difficulties in the process of educational upbringing and learning material. Scientists in the early 90s. conducted observations of learning processes and difficulties encountered in mastering the material.

Children susceptible to pathology have special cognitive qualities. They have well-developed visual perception, they have a good vocabulary and show reading ability, but the development of speech is significantly inferior to visual perception.

Auditory perception and comprehension of information are poorly developed, learning to write and mastering mathematics becomes problematic. The auditory and visual memory is impaired, the concentration of sound perception is low. In some cases, intellectual abilities and capabilities improve over time, but the above symptoms will continue to show problems.

Behavioral disorders

Prader-Willi syndrome is accompanied by increased appetite, which leads to excessive deposition of adipose tissue. So far, there is no common view among scientists on the occurrence of this disease; it is often associated with dysfunction of the hypothalamus, which is affected by pathologies of the 15th chromosome.

Since the hypothalamus regulates many physiological processes in the body, including the need for food, it is quite logical to say that difficulties in its physiology lead to obesity. At the same time, the results of pathological examinations do not confirm violations of the morphology of the hypothalamus.

People with Prader-Willi syndrome have increased levels of ghrelin in the body, and this leads to an increased need for food and, as a result, to the appearance of excess adipose tissue.

Mental disorders manifest themselves in compulsive behavior, depression, paranoia, and hallucinations, which affect many young people. Mental and behavioral disorders often lead to hospitalization.

Endocrine disorders

There are several factors that support the concept of growth deficiency in individuals susceptible to the syndrome.

1. Affected individuals are short and overly obese, meaning they have low free fat mass, low bone density, and low energy use.
2. This disease is characterized by disturbances in the genitourinary system. In males, problems arise with undescended testicles (over time, the testicles may drop to normal levels), and in females, problems arise with the appearance of adrenarche. In both cases, it is possible to solve the problem surgically.

Diagnostics

Prader-Willi syndrome manifests itself at the stage of intrauterine development. After undergoing the ultrasound procedure, women are recommended to undergo prenatal testing, if necessary, with the introduction of an invasive technique. After the birth of a child, an experienced physician can immediately make a diagnosis due to the similarity of sick children with each other.

However, it is still necessary to undergo a special genetic test, which will give an accurate result for the diagnosis. Completing the blood donation procedure for the presence of human chorionic gonadotropin will eliminate the presence of the syndrome.

Modern genetics uses DNA markers and molecular biological technologies. The diagnosis is made based on the following indicators:

• if the baby is full term, there is a decrease in weight and height;
• incorrect intrauterine position and breech presentation;
• microanomalies of development;
• hypotonia of muscle tissue;
• low level of pigmentation of the skin, hair and iris;
• rapid obesity;
• disorders of speech development, mental and motor functions.

Children have a pronounced persecution mania, they hide food and demand food. They may die during sleep due to sleep apnea (a consequence of obesity).

Treatment

Prader-Willi syndrome, which occurs in children, has no special treatment to date. If respiratory reflex disturbances are detected, newborns are connected to a ventilator. Disturbances in the swallowing reflex and nutrition are initially eliminated using a probe. Reduced muscle tone requires massage and physiotherapeutic procedures.

Children are given growth hormone, which accompanies the process of increasing muscle mass and reducing appetite. Disorders in the genitourinary system involve the administration of a special hormone to sick children, the use of which is aimed at timely puberty. In case of undescended testicles, the child is registered with a pediatric andrologist. This problem can also be solved surgically if the testicles have not dropped to normal over time.

In some cases, consultation with a psychiatrist is also necessary. Delayed development of the speech apparatus and psychological state require the help of a psychologist. Parents should take their child’s diet seriously, protect him from overeating, and introduce those foods that a nutritionist recommends. Great attention should be paid to the socialization of the child, give him a chance to play sports and communicate with peers. The birth of a second child in the family should be planned and undergo a genetic examination, since the risk of having another child with a pathology is quite high. Children need constant consultation with an endocrinologist and neurologist.

Improvement of general condition


Prader-Willi syndrome is accompanied by somatic complications and difficulties in communication, so special medical care and an approach to carriers of this disease are necessary.

They, as a rule, have no idea about the safety of their health, which aggravates their general condition and somatic pathologies. Good health should be the main driving force for such people.

They show little ability to learn and often change their priorities in life. The environment and socialization in it are very important for such people, so that they become members of society.

Quality of life of patients with Prader-Willi syndrome

A major factor in living standards is health disparity. The resulting concept can draw the attention of the outside world to such people.

First of all, inequality manifests itself in varying degrees of expression and progression of the disease at the mental, hormonal, emotional and other levels, so it is difficult to determine the degree of capacity in such people. Studies should be conducted in groups where the symptoms and severity of the disease are similar.

Data from studies indicate that a similar situation exists in patients:

• they get sick more often than the rest of the population;
• their visual acuity is reduced;
• often seek advice from a doctor;
• are overweight and prone to obesity.

Patient needs

Prader-Willi syndrome causes a number of needs. Such people need constant medical care, treatment of severe chronic diseases, and the right approach to providing assistance.

This pathology, in which a very low learning ability is manifested, is associated with the occurrence of other diseases. Uncontrolled actions regarding one's own health reduce vital signs and life expectancy up to 60 years. In general, the prognosis for the recovery of such people is unfavorable.

People suffering from the syndrome must go through a number of restrictions and barriers in order to receive qualified help:

• low mobility due to obesity;
• difficulties in communicating and interacting with other people;
• lack of special educational institutions;
• behavioral disorders;
• insufficient study of pathology;
• low public awareness of this problem.

By uniting together, people are able to solve these problems and give patients a chance to become part of society.

There are many pathological conditions that can be transmitted to a person along with genes. These are various types of genetic ailments that may differ in their severity and prognosis for the future. Some of them can be quite successfully corrected, while others cannot be treated at all and remain with a person for life or provoke death. One of the rather rare genetic pathologies is considered to be Prader-Willi syndrome, which develops due to the absence or insufficient functioning of certain genes. Let's try to understand the main features of this disease in more detail.

Why does Prader Wili syndrome develop? Causes of the condition

As we have already clarified, Prader-Willi syndrome is a hereditary disease. Deformed or missing genes that provoke the development of symptoms of the disease are located on the fifteenth paternal chromosome. It is worth considering that in most cases, such a disease is not transmitted directly from a sick person to his children, since this pathology is considered quite rare.

How does Prader Wiley syndrome manifest? Symptoms of the condition

Prader-Willi syndrome is characterized by the development of mild mental retardation, as well as some physical problems. One of its most obvious symptoms is considered to be an indomitable thirst for food - an intense feeling of hunger, which becomes the cause of gluttony. In this case, the patient experiences obsessive thoughts about food and tries to find food and satisfy hunger by any means necessary.

Certain signs of this disease become noticeable already during the period of bearing a child. The classic manifestations of this are considered to be reduced fetal mobility, as well as its incorrect positioning. After the baby is born, he develops muscle hypotension, which continues to persist during the first year of the child’s life. In addition, children with a similar syndrome experience a decrease in the swallowing and sucking reflex, which significantly complicates the feeding process. Some motor dysfunctions are also explained by the presence of muscle hypotonia, which is why sick children can have difficulty sitting, holding their heads, etc. However, it is worth emphasizing that around school age, hypotension in patients decreases and practically disappears.

Prader-Willi syndrome in children also makes itself felt by a strong and constant desire to eat, while food consumption does not lead to satiety. Such clinical symptoms become noticeable around the second to fourth year of the baby’s life. They provoke the gradual development of hyperphagia or gluttony, the child begins to constantly think about food. His behavior becomes obsessive in nature, so the patient spends time in continuous search for food and attempts to satisfy the feeling of hunger. The described symptoms in any case become the cause of obesity, which most often manifests itself on the torso, as well as on the proximal limbs. The described manifestations of this pathological condition often become the cause of such a complication as obstructive apnea, which makes itself felt by the occurrence of respiratory arrest during sleep.

Other classic manifestations of Prader-Willi syndrome are considered to be a decrease in growth rate, an elongated head shape, and an almond-shaped eye shape. Patients have a wide bridge of the nose, their mouth is small in size, and their upper lip looks thin. At the same time, the ears are located quite low, and the feet and hands look disproportionately small. In most cases, the disease leads to a decrease in pigmentation of the skin, hair, and iris. In addition, it is accompanied by hip dysplasia, spinal curvature, and reduced bone density. With Prader-Willi syndrome, patients suffer from increased drowsiness and strabismus, they have particularly thick saliva, as well as various dental problems. Puberty with this pathology occurs especially late.

What should those diagnosed with Prader Wili syndrome do? Treatment of the condition

Therapy for Prader-Willi syndrome is currently not possible. Scientists have not yet invented a single drug that can cope with this disease. Correction may include the use of certain therapeutic measures to improve the patient’s quality of life. First of all, such events are designed to increase muscle tone, which is why children are recommended to undergo special massages, as well as physiotherapeutic sessions. Diet also plays an important role, and the patient’s diet should contain a minimum of fats and carbohydrates. In certain cases, the doctor may decide to prescribe gonadotropins; such hormonal therapy is designed to increase the growth of the sick baby, as well as optimize muscle tone. In this case, calories will be properly distributed throughout the body, which will help prevent obesity. Correction may also include classes with a defectologist, psychologist, and speech therapist and the use of various special development techniques.

What can those with Prader Wili syndrome expect? Lifespan

With symptomatic correction and restriction of food intake, a patient with Prader-Willi syndrome can live for at least sixty years.

Despite the fact that Prader-Willi syndrome cannot be treated, patients with this diagnosis may well adapt to life more or less normally, but they will always have to be monitored in matters of food consumption.

Obesity in modern civilized society has become an epidemic. More and more people suffer from lack of exercise and excess weight. Among obese patients, a separate group consists of children and adolescents. The reasons for the development of the disease in this case are not only a sedentary lifestyle and an unbalanced diet, but also genetic abnormalities. Similar pathologies include Prader-Willi syndrome.

Hereditary obesity: definition and likelihood of development

All information about a person’s appearance and the nature of metabolic processes in the body is contained in the deoxyribonucleic acid (DNA) molecule. Sections of DNA that encode certain characteristics (hair, eye, skin color) are called genes. All human hereditary material is grouped into forty-six chromosomes, clearly visible in the cell nucleus through a microscope. The future child receives half of them from the father, the other from the mother. Chromosomes are initially contained in germ cells - the egg and sperm.

Any damage to a DNA molecule of varying length (a gene, a section of a chromosome) is likely to affect either the external features of a person or the nature of metabolism. Prader-Willi syndrome is a medical term that describes characteristic changes in the patient’s appearance in combination with hereditary obesity and metabolic characteristics.

The syndrome was first described by scientists Andreas Prader and Heinrich Willi in 1956. The prevalence of the pathology is one case in ten to twenty thousand newborns. The disease is equally common among boys and girls. Family cases of Prader-Willi syndrome have been described in the literature.

Heredity as the main cause of the disease

The main reason for the development of Prader-Willi syndrome is a disorder in the structure of genes located on the fifteenth chromosome. Two types of defects lead to the formation of the disease:

• loss of a large section of the DNA molecule (microdeletion) of paternal origin;
• inheritance of both fifteenth chromosomes from the mother (isodisomy).

About two thirds of cases of pathology are caused by microdeletion, the rest by maternal isodisomy.

There is a genetic opposite defect: microdeletion of maternal origin or paternal disomy. Both causes lead to the development of a hereditary pathology called Angelman syndrome. The clinical picture of this disease is characterized by a slowdown in physical and intellectual development, impaired coordination of movements, and epileptic seizures.

Before the development of molecular genetics, it was generally accepted that inheritance of both pairs of chromosomes from one parent was impossible. However, with the advent of modern methods of analysis, this fact was not only proven. In the process of ongoing genetic research, the assertion about the equal influence of paternal and maternal hereditary information on the external features and nature of the child’s metabolism was refuted.

Clinical aspects of genetic diseases - video

Features of the pathology

The main consequence of genetic abnormalities in Prader-Willi syndrome is an unusual metabolism of fats in the body, leading to a tenfold prevalence of their deposition in subcutaneous fat over breakdown. Another important mechanism for the development of the disease is a violation of the exchange of sex hormones, as a result of which the reproductive system has many anomalies of the anatomical structure.

In addition, with Prader-Willi syndrome, the risk of developing malignant tumors is significantly increased due to a genetically programmed weak system for protecting the DNA molecule from damage.

Symptoms of the disease

The clinical picture of Prader-Willi syndrome in children of different ages varies significantly.

Signs of Prader-Willi syndrome in different age groups - table

During intrauterine development, a fetus with Prader-Willi syndrome has minor anatomical features in the form of a narrow facial skeleton.

Appearance of patients with Prader-Willi syndrome - photo

A genetic defect on the fifteenth chromosome leads to multiple external manifestations of the disease
Obesity in Prader-Willi syndrome mainly affects the trunk, shoulders and hips Obesity is the most characteristic external feature of the disease
A wide bridge of the nose, narrow eyes and lips are characteristic facial features of patients with Prader-Willi syndrome

Diagnostic methods

The following methods are used to establish a diagnosis:

• a thorough examination by a doctor is mandatory with clarification of all the details of the disease, including the characteristics of pregnancy, childbirth and the early stages of the child’s development;
• measurement of height and weight, length of limb segments - is carried out to determine the most important signs of the disease: excess weight, short stature, disproportion of the limbs;
• neurological examination - for an infant, it can reveal weakened reflexes and decreased muscle tone. At an older age, the examination aims to determine the degree of intellectual impairment;
• blood test for hormone levels - allows you to identify dysfunction of the testicles and ovaries;
• biochemical blood test - allows you to identify signs of concomitant diabetes mellitus in the form of elevated glucose levels;
• Ultrasound examination of internal organs - allows you to identify associated anatomical anomalies of their structure;
• examination by an ophthalmologist - allows you to identify a decrease in visual acuity;
• electroneuromyography - allows you to graphically display the passage of a nerve signal through muscle fibers;
• molecular genetic research is the gold standard and allows you to accurately identify a defect in the structure of the fifteenth chromosome.

Differential diagnosis is carried out with the following diseases, in which the main symptoms are obesity, low muscle tone, and delayed intellectual development:

• Down syndrome;
• myopathy;
• spinal amyotrophy;
• Lawrence-Moon syndrome;
• Bardet-Biedl syndrome;
• Alström syndrome;
• Opitz-Frias syndrome.

Hereditary syndromes - photo gallery

Down's disease is a genetic defect associated with a change in the number of chromosomes
Patients with Lawrence-Moon syndrome have a characteristic appearance
Alström syndrome is accompanied by the development of obesity

Treatment of hereditary obesity

Treatment of the disease is aimed at improving the patient’s quality of life, since a genetic defect at the present stage of medical development cannot be corrected. Therapy for Prader-Willi syndrome is complex, including correction of nutrition and weight, muscle tone, sexual development, as well as initial intellectual abilities.

Drug treatment

Medicines are used to achieve an acceptable level of growth, as well as the correct formation of the genital organs during puberty. The hormone somatotropin promotes muscle and skeletal growth. The drug is used until the cartilaginous zones of the long bones of the shoulder, femur, tibia and forearm are closed.

Correct sexual development in Prader-Willi syndrome is achieved by administering the hormone gonadotropin. The drug ensures the normal process of formation of secondary sexual characteristics.

It is important to remember that only a doctor can decide what the duration of the course of treatment will be and prescribe the appropriate medications.

Physiotherapy

Physiotherapeutic procedures used at an early age to correct muscle tone:

• electrical stimulation;
• electrophoresis.

These methods are based on the beneficial effects of electric current of various shapes and polarities. Massage allows you to create a harmonious tone in various muscle groups. Therapeutic exercises are a necessary measure in the treatment of patients with Prader-Willi syndrome. The greatest effect is achieved during swimming and water aerobics. A sufficient level of physical activity is vital for the patient in the fight against excess weight.

Diet

Rational nutrition is the main way to correct the special metabolism of fats in patients. First of all, it is necessary to teach the child not to overeat, so parents need to exclude free access to food.

• whole grain bread;
• brightly colored berries;
• fresh juices;
• dairy products;
• sea ​​fish;
• seafood;
• green tea;
• fresh vegetables and fruits;
• sea ​​kale.

Whole grain bread is a source of valuable carbohydrates
Fruit natural juices contain many different vitamins
Seafood is a source of valuable protein
Green tea contains large amounts of antioxidants
Seaweed is an ideal source of iodine to support thyroid function
Fermented milk products contain calcium necessary for bone growth

Foods to avoid:

• sugar;
• carbonated drinks;
• fast food;
• fatty meats and fish;
• White bread;
• potato;
• chocolate;
• confectionery with cream;
• fresh bakery.

Photo gallery: foods to avoid

Correction of a child’s intellectual development

An adequate level of intelligence is the key to the socialization of patients with Prader-Willi syndrome. The development of initial abilities in classes with a speech therapist-defectologist and teacher allows children to be accepted into any team.

Complications and prognosis of the disease

Timely diagnosis and adequate therapy allows patients with Prader-Willi syndrome to achieve an acceptable level of quality of life. If the course of the disease is unfavorable, the following complications develop:

• diabetes;
• severe forms of respiratory arrest during sleep (apnea);
• pronounced curvature of the spine;
• destruction of cartilage tissue of joints under the influence of excess weight;
• heart failure;
• malignant neoplasms.

Prevention

The only effective method of prevention is prenatal genetic diagnosis with determination of the characteristics of the chromosomal set of fetal cells obtained from amniotic fluid. Subsequently, consultation with a geneticist is carried out.

Prader-Willi syndrome is a serious genetic disease. To maintain the proper quality of life, long-term persistent cooperation between the child, his parents and doctors is necessary. Only disciplined implementation of all recommendations will make the patient a full-fledged member of modern society.

Prader-Willi syndrome

Prader-Willi syndrome (abbreviated SPV)- this is a rare condition in which seven (or some parts thereof) on the 15th paternal chromosome (Q 11-13) are deleted or do not function normally (for example, with a partial deletion). The disorder was first described in 1956 Andrea Prader and Heinrich Willi, Alexis Labhart, Andrew Ziegler and Guido Fanconi.

PWS occurs in 1 person in 25,000-10,000 newborns. It is very important to remember that the genetic material that influences the development of the disease is paternal. Because this region of chromosome 15 is characterized by the phenomenon of imprinting. This means that for some genes in this region only one copy of the gene functions normally, through

Studies conducted in human groups and those carried out in mouse models have shown that deletion of 29 copies of the C/D box snoRNA SNORD116 (HBII-85) is the main cause of Prader-Willi syndrome.

Diagnostics

PWS occurs in approximately 1 in 10,000 to 25,000 births. Worldwide today there are more than 400,000 people who live with PWS. As already mentioned, this disease is traditionally characterized by hypotension, short stature, hyperphagia, obesity, and behavioral problems. Individuals with this disorder have small hands and feet and are characterized by hypogonadism and mild mental retardation.

However, if this disease is diagnosed at an early stage and its treatment is started, the prognosis for the development of the disease becomes more optimistic. PWS, like autism, is a disease that has a very wide range of manifestations and signs. The course of the disease differs in each individual case and can range from mild to severe, which progresses throughout a person’s life. Prader-Willi syndrome affects various organs and systems.

Typically, the diagnosis of Prader-Willi syndrome is made based on clinical manifestations. However, today genetic testing is increasingly used and is especially recommended for newborns with hypotension. Early diagnosis allows for early treatment of PWS. Daily injections are recommended for children with the syndrome recombinant growth hormone (GH) . Somatotropin (growth hormone of the pituitary gland) supports a constant increase in muscle mass and can reduce the patient’s appetite.

The basis for diagnosing the disorder, as already mentioned, is genetic testing, which can be carried out using the -methylation method, to determine whether there is a normally functioning region on chromosome 15q11-q13, deviations in which lead to the appearance of Prader-Willi and Angelman syndromes. This test allows identifying more than 97% of patients. Such testing must be carried out in order to confirm the diagnosis of PWS, especially in newborns (after all, they are still very young to test their ability to diagnose the disease based on clinical manifestations).

Because babies with Prader-Willi syndrome face some challenges when they are born, it should be remembered that congenital injuries and oxygen deprivation can complicate the genetic deficiencies that result in atypical PWS.

Differential diagnosis

Often, Prader-Willi syndrome is misdiagnosed. The reason for this is that many doctors are not aware of this syndrome. It is sometimes considered Down syndrome because the disorder is much more common than PWS. In addition, the obesity characteristic of PWS may also be present in Down syndrome through behavioral problems.

Adding to the challenge is the fact that parents of children who have already had testing done to diagnose Prader-Willi syndrome may tell friends, family, and even doctors and nurses that their child has Down syndrome because more people know about the disorder. It is believed that about 75% of PWS remain undetected.

Treatment

There are currently no effective medications for the treatment of PWS. A number of drugs aimed at overcoming the symptoms of the disease are currently under development. During childhood, affected individuals should undergo treatment to help improve muscle tone. Physiotherapy is very important. During the school year, sick children should receive additional help and the learning process should be very flexible. The biggest problem associated with PWS is severe obesity.

Due to severe obesity, a common complication is obstructive sleep apnea, which is why the use of CPAP (individual medical device for automated long-term auxiliary intranasal ventilation with continuous positive pressure).

Society and culture

The first public information about Prader-Willi syndrome appeared in the British media in July 2007, when the Channel 4 television channel showed a program called Can't Stop Eating, which described the daily life of two people from PWS - Joe and Tamara.

Actress and neurologist Mayima Bialik wrote a thesis on Prader-Willi syndrome for her PhD in 2008