Prader-Willi syndrome: description, diagnosis, photos, treatment. Hereditary obesity: Prader-Willi syndrome

With the development of molecular genetic methods, the diagnostic process various diseases greatly simplified. Prader-Willi syndrome - congenital disease hereditary nature, accompanied by a large number of complications. Pathology is common cause obesity in children.

The genetic nature of Prader-Willi syndrome

Prader-Willi syndrome is a genetic disease that occurs due to dysfunction of a certain region of the 15th chromosome inherited from the father. The genes in it may partially not work, be deleted, or carry only material received by the mother.

Nowadays, the disease is very often misdiagnosed, and therefore in the first years of life the child does not receive adequate and timely treatment.

The syndrome was first described by Swiss pediatricians A. Prader and G. Willi. According to statistics, the disease occurs in one out of 10–20 thousand newborns. For a long time it was difficult to establish a connection between heredity and the cause of the pathology. With the development of science and the advent of various molecular testing methods, scientists have been able to accurately identify genetic disease in all patients.

Heredity as a cause of disease

There were many possible transmission options for the disease. Using genetic tests, it was found that in 70% of cases the disorder is caused by microdeletion (loss of a chromosome section) or lack of activity of genes on chromosome 15 received from the father, and in 25% of patients - maternal isodisomy (all two chromosomes are received from the mother). The remaining part arises due to the replacement of some genes with others in a certain region of chromosome 15 or a violation of their functioning (imprinting).

Imprinting determines the degree to which genes influence the structure and functioning of the body, depending on the parent from which they were received. Similar situation is not characteristic of all hereditary material, but only of 1 percent.

There were no clinical differences between patients.

There are several types of disorders in which Prader-Willi syndrome occurs in children of different ages

The disease occurs equally often among boys and girls. Prader-Willi syndrome is main reason development of obesity in children under one year of age. In patients, the process of fat breakdown is reduced and its production is increased.

Children are born full term. Based on external data, it can be difficult to immediately determine the presence of a genetic disease. However, a detailed study reveals many deviations.

In children under one and a half years old, muscle tone is reduced, the reaction in the form of throwing up the arms when frightened (Moro reflex) and sucking-swallowing reflexes. Parents experience severe problems feeding their child. Difficulty breathing is common.

The Moro reflex appears normally in children from birth and disappears after a few months. During the examination, the doctor claps close to the baby and observes him. Normally, the child spreads his arms wide and spreads his fingers, after which he begins to quickly bring them together. From the outside it seems that the baby is trying to hug and hold someone close to him.

In the first one and a half years of life, children with Prader-Willi syndrome have a pronounced decrease in muscle tone

Symptoms of the disease

Patients with Prader-Willi syndrome suffer from dysfunction central authority, which controls the entire endocrine system - the hypothalamus, located in the brain. The resulting underdevelopment of the testes and ovaries leads to disruption of hormone production and underdevelopment of external and internal sexual characteristics. In boys, this process causes the absence of one or both testicles in the scrotum, and in girls, in half of the cases, a reduced, underdeveloped uterus is noted. A decrease in the amount of the specific enzyme protein tyrosinase leads to weak pigmentation of the hair, skin and iris of the eye.

Cryptorchidism is an abnormal location of the testicles, in which they do not exit into the scrotum, but remain inside abdominal cavity, under the skin on the thigh, pubis, groin.

Subsequently, the child develops a constant feeling of hunger; food does not bring satiety. It is from this moment that the development of obesity begins. This disease is characterized by fat deposition in the lower torso, abdomen and thighs.

Due to increased appetite, patients quickly gain weight

Gradually, the child’s muscle tone is restored and develops to normal level by about six years of age. However, external defects become very noticeable: the feet and hands are disproportionately small, the legs are curved, the eyelids are excessively drooping, the spine is deformed, the height is below average for this age. The child gets tired quickly, is often drowsy, and physically lags behind his peers. Often develops due to muscle defects.

The mental state of patients is often unstable. Despite their general friendliness, they have outbursts of anger, unmotivated aggression, hysterics. Children with the syndrome are mischievous and stubborn. Many patients experience obsessive-compulsive neurosis, the manifestations of which are very diverse, from performing household chores to fears and phobias. Some children suffer from dermatillomania - tearing off pieces of skin on their body. Up to 10% of patients experience hallucinations, paranoid abnormalities and suffer from depression.

IN school age speech impairment and decreased intellectual development.

In 1992, scientists studied the intelligence of patients with Prader-Willi syndrome. Normally, the IQ is 85–115 points. Only 5% of patients exceeded this threshold and remained at a low or average level of development, the rest were below 85 points. The majority had moderately reduced intelligence and 30% had mental retardation.

Children with this syndrome have unusual perception, they have a highly developed imagination, they perfectly perceive information visually, remember words well, read quickly, but at the same time they have problems with the oral expression of thoughts and speech. Patients may perceive information by ear poorly; their logical and mathematical thinking is at an extremely low level. Written expression of thoughts can be difficult for them.

In adult life patients face many problems. The vast majority cannot have children; underdevelopment of the gonads leads to infertility and various anomalies anatomical structure reproductive organs. Many people are diagnosed with diabetes. In appearance patients are allocated wide nose, almond-shaped eyes, narrow lips. The color of the eyes, hair and skin of such patients is lighter than that of their closest relatives.

Stories of children with Prader syndrome - Willy - video

One of the terrible diseases that most often manifests itself in patients with Prader-Willi syndrome is perverted hematopoiesis (leukemia). The level of restoration of genetic information in white blood cells (lymphocytes) is reduced to 67%. In this regard, patients have an extremely increased risk oncological pathologies hematopoietic systems.

Problems with bone tissue appear throughout the body. Teeth are highly susceptible to caries, and scoliosis progresses with age. At the same time, people with this syndrome are very flexible; joints easily bend in different directions without causing pain.

Diagnostic methods

The doctor can detect the first signs of the disease already during pregnancy: poor fetal mobility, polyhydramnios, incorrect types of presentation (breech, transverse). It is recommended to consult a doctor who will prescribe a genetic test. A puncture is used to obtain cells from the unborn child. amniotic sac(amniocentesis). When diagnosing the mother's blood, a reduced level of the hormone gonadotropin is detected.

After birth the most precise definition the presence of the syndrome is the detection of abnormalities of chromosome 15 through molecular genetic studies.

Children with Prader syndrome - Willi - photo gallery

There are many external signs Prader-Willi syndrome: short feet and hands, scoliosis, curvature of the legs Already at a very young age, the child’s body intensively accumulates fat deposits. The lower extremities are particularly affected by obesity.

Since 1993, two types of signs of the disease have been identified: basic and additional.

Main features:

• decreased muscle tone in children under one year of age;
• difficulties feeding newborns;
• rapid gain of fat mass;
• characteristic appearance;
• increased appetite;
• retardation in intellectual development;
• underdevelopment of the sex glands.

Additional signs:

• poor fetal mobility during intrauterine development;
• behavioral difficulties;
• sleep cycle disorders;
• small stature, hands and feet;
• weak pigmentation of hair, skin and iris;
• thick, stretchy saliva;
• speech problems.

In case of Prader-Willi syndrome, differential diagnosis with the following diseases is necessary:

The task of differential diagnosis is completely handled by DNA analysis, without which many cases of Prader-Willi syndrome remain undetected. A doctor may diagnose Down syndrome because it is more common and studied. In both cases, obesity and mental retardation are observed.

Treatment of the syndrome

Unfortunately, the disease is incurable and will accompany the patient throughout his life. However, with early diagnosis and timely initiation of therapy, it is possible to significantly improve the child’s life and reduce the severity of clinical manifestations.

Basic treatment methods

In many cases, patients are prescribed growth hormone due to its reduced production in the child’s body. The therapy helps enhance the patient's growth and recruitment muscle mass and to some extent even reduce your appetite.

Due to underdevelopment of the testicles and ovaries, the doctor prescribes hormones to stimulate sexual development. In the case of cryptorchidism, surgery is prescribed to remove the testicles into the scrotum.

Since most patients suffer from sleep disturbances and sudden cessation of breathing at certain moments, the doctor recommends the use of a special medical device. The device will prevent such a negative condition by creating constant ventilation of the lungs due to pressure.

Metabolic drugs are prescribed to treat metabolic disorders.

Physiotherapy, sports, massage

From infancy, a sick child needs to undergo physiotherapy and massage sessions to strengthen muscles and keep them in good shape.

Children with Prader-Willi syndrome are very flexible and gymnastics may be suitable for many of them.

Additional sports clubs will perfectly help your child keep his muscles toned, control his weight and fully develop physically. Children's fitness, exercise therapy and other sections are suitable for the child.

Diet therapy

Due to the fact that the main problem of patients with Prader-Willi syndrome is obesity, doctors pay increased attention to a strict diet. Worth limiting fatty foods And fast carbohydrates. Allowed at preschool age complete diet for the development of the body. Then a diet with a calorie deficit (up to 1200 per day) is prescribed, and multivitamins and minerals are additionally taken.

If available strong problems When feeding newborns, you have to resort to feeding through a gastric tube.

Since the appetite of such children is uncontrollable, they often steal and hide food. Parents should reduce access to food and use various locking devices on the refrigerator and cabinets.

It is necessary to exclude flour products, sweets, and fatty foods from the diet. The child's diet should be rich in vegetables, fruits, lean meat and fish. Must be used in cooking vegetable oils- olive, walnut, flaxseed.

Classes with specialists

A mandatory measure for Prader-Willi syndrome is the observation of a neurologist, especially in the first years of life. The doctor will accurately determine the degree of developmental delay and help reduce the severity of symptoms of the disease.

A visit to a speech pathologist is mandatory. A qualified doctor will help you structure your speech and teach you how to pronounce sounds correctly.

The pediatric endocrinologist should constantly check hormonal background child, adjust medications in a timely manner and monitor the diet.

Treatment prognosis

It is impossible to completely recover from Prader-Willi syndrome, but with correct implementation therapy, the quality of life of patients improves significantly.

The life expectancy of patients can reach sixty years or more. Most often, deaths occur due to the consequences of obesity: diabetes, sleep apnea, kidney disease and cardiovascular disease.

Life expectancy increases significantly in patients with Prader-Willi syndrome in families that follow the principles of proper nutrition and maintain an active lifestyle.

Probability of having a sick child in a family

Since the syndrome is congenital, its prevention can only consist of a prenatal analysis of the hereditary material of the fetal cells and subsequent consultation with a geneticist.

If the first child is diagnosed with inheritance of both chromosomes from the father or loss of a certain section in one of them, then the probability of the next baby being born with a similar pathology is one percent. However, if the cause of Prader-Willi syndrome was the replacement of a section of a chromosome with another genetic set, then the probability increases to 50%. A similar case is the inheritance of both chromosomes from the mother. Knowing the test results, you can reasonably evaluate everything possible risks birth of a child with this disease.

Despite the incurability of the disease, timely and quality treatment will help support the child normal weight, mobility and develop intellectually with the help of special techniques.

Prader-Willi syndrome in medicine is called a rare hereditary disease, which is characterized by the absence or insufficient functioning of some genes or their parts of the 15th paternal chromosome. First this pathology was described in 1956 in Switzerland by pediatricians A. Prader and H. Willi, after whose names the syndrome was named. Its frequency is 1 case per 12-15,000 newborns. Symptoms and manifestations of Prader-Willi syndrome vary, and the course of the disease usually depends on the specific case.

Signs of Prader-Willi syndrome

Some signs of Prader-Willi syndrome can be detected even during pregnancy. First of all, this low mobility fetus and its abnormal position. After birth, muscle hypotonia is expressed, which persists throughout the first year of the baby’s life. In addition, children with the syndrome exhibit a decrease in swallowing and sucking reflexes, which makes feeding difficult. Developmental disorder motor functions they are also caused by muscle hypotonia, so sick children may find it difficult to sit, hold their heads, etc. However, it is important to note that hypotension decreases and practically disappears by the age of 6-7 years.

Prader-Willi syndrome also occurs in children constant feeling hunger and lack of satiety. This sign The disease usually occurs in the second to fourth year of a child’s life. Against this background, hyperphagia or gluttony, obsessive thoughts about food and obsessive behavior gradually develops, which is aimed at continuous search for food and satisfaction of hunger. Such symptoms inevitably lead to obesity, which, if of this disease observed mainly on the trunk and proximal extremities. These signs of Prader-Willi syndrome in children often lead to a complication such as obstructive apnea, manifested by cessation of breathing during sleep.

Others typical symptoms diseases are:

• Decreased growth;
• Elongated head shape;
• Almond-shaped eyes;
• Wide bridge of nose;
• Thin upper lip and a small mouth;
• Low-set ears;
• Acromicria (disproportionally small hands and feet);
• Weak pigmentation of the skin, iris and hair, which is observed in 75% of cases of the disease;
• Hip dysplasia;
• Rachiocampsis;
• Reduced bone density;
• Increased drowsiness;
• Strabismus (strabismus);
• Thick saliva and dental problems;
• Late puberty.

Already at birth, Prader-Willi syndrome in children manifests itself as a violation of the development of the genital organs. Boys with this disease experience underdevelopment of the penis and scrotum, and testosterone levels are sharply reduced; girls have underdevelopment of the labia and often the uterus. In the future, the disease leads to the absence or delay of puberty and infertility.

One of the main signs of Prader-Willi syndrome is also delayed psychomotor development. The intellectual development quotient in patients is 20-80 units, while the norm is 85-115 units. At the same time, children suffering from this disease, as a rule, have good visual memory, can learn to read and even have a fairly rich passive vocabulary, but their speech is much worse than their understanding.

Prader-Willi syndrome in children is usually accompanied by poor auditory and visual memory; mathematical and writing skills are very difficult for them. It should be noted that children with this syndrome often develop diabetes mellitus.

Diagnosis of Prader-Willi syndrome

Early diagnosis of Prader-Willi syndrome and subsequent treatment can improve the prognosis of the disease. The diagnosis is made, as a rule, on the basis of the clinical manifestations of the disease, but today genetic testing is often used, which experts recommend primarily for newborns. This is due to the fact that in children the presence of the syndrome is much more difficult to determine, since it is impossible to test their ability to diagnose Prader-Willi syndrome based on clinical manifestations.

Genetic testing is carried out using the DNA methylation method to determine whether abnormalities are present on chromosome 15 that lead to the onset of the disease. This method Diagnosis of Prader-Willi syndrome helps to identify 97% of cases of the disease.

It is also worth noting that the disease is often misdiagnosed, since it is often confused with Down syndrome, which is much more common. Besides this characteristic feature Prader-Willi syndrome, like obesity, may also be present in Down syndrome. For this reason, a huge number of cases of the disease remain undetected.

Treatment of Prader-Willi syndrome

Since the disease is a genetic abnormality, there are currently no effective treatments for Prader-Willi syndrome. medicines. At the same time, some therapeutic measures are used to help improve the quality of life of patients. First of all, they should be aimed at increasing muscle tone, so sick children need special massage procedures and physiotherapy.

Treatment of Prader-Willi syndrome also includes diets limited in fats and carbohydrates. To avoid obesity, it is necessary to constantly monitor the quality and caloric content of the food consumed. In addition, during treatment it is often recommended to use hormone therapy with the help of gonadotropins, which can increase the growth of a sick child and restore muscle tone. This promotes proper distribution of calories in the body, preventing obesity.

Treatment of Prader-Willi syndrome also involves special methods for the development of sick children, classes with a defectologist, speech therapist and psychologist.

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Prader-Willi syndrome is a rare genetic problem characterized by the loss of the paternal chromosome 15. Such a defect is accompanied by the development of signs of hypogonadism, obesity and mental retardation. The first symptoms of the disease appear in infancy, often getting worse as the child grows and develops. Diagnosis of pathology is based on assessment of function endocrine system in combination with specific symptoms of the disorder. Treatment is symptomatic and is aimed at reducing the intensity of the disease, as well as preventing complications.

General information about Willi-Prader syndrome

The first mention of pathology dates back to 1887. Langdon Down described a teenage girl who had developmental delay, hypogonadism, and obesity. Initially, the disease was called “polysarcia.” The syndrome was fully characterized by the Swiss doctors Prader, Willi and Labhart in 1956. Later, during an in-depth study, doctors determined the exact location of the genetic mutation that led to the onset of the disease in children. They also linked the changes to Angelman syndrome. Both disorders are caused by a defect in the structure of chromosome 15. Moreover, in one case the anomaly is formed in the maternal copy, and in the other – in the paternal copy. The pathology was named Willi-Prader syndrome in honor of the doctors who made the greatest contribution to its study. The disease is considered rare, as its prevalence ranges from one case per 10–25 thousand newborns. No gender or racial predisposition has been established.

Forms and signs of the disease

In genetics, it is customary to differentiate several karyotype defects leading to the development of Prader-Willi syndrome. They determine the intensity of the symptoms of the disease. The following forms are distinguished:

1. The most common phenotype is one in which the paternal copy of the chromosome is lost during cell division. It is diagnosed in 70% of patients and is associated with classic signs of damage, including hypofunction of the gonads, obesity and mental retardation.
2. In four patients, the karyotype is formed due to uniparental maternal disomy. This means that during intrauterine development, the fetus receives the 15th chromosome only from the woman, and male genetic information is lost. This phenotype is associated with light current disorders. The child has more developed intellectual abilities and is also less stunted.
3. The rarest variant of the defect is the result of translocation of chromosome sections, combined with a disruption of the imprinting process during cell division. This anomaly is associated with the maximum intensity of clinical manifestations. At the same time, children also have a significantly increased risk of developing dangerous complications, including heart defects.

Symptoms of Prader-Willi syndrome are recorded during pregnancy. Indirect signs The development of pathology is considered to be low activity of the fetus and its incorrect position. Polyhydramnios and changes in the level of gonadotropin in the expectant mother are also noted. Further manifestations of the syndrome depend on the age of the patient.

In children

Already in the first months after birth, the disease makes itself felt. Kids suffer from severe hypotension muscles, hip dislocation is often diagnosed due to congenital dysplasia joint In children with Prader-Willi syndrome, a decrease in the sucking and swallowing reflex is also noted, up to their complete absence. Within a few months the ability to drink breast milk may recover spontaneously. Patients with the disease have various deformations face and limbs, including microcephaly, underdeveloped ear cartilage, and disproportionately reduced feet and hands. Hypogonadism, which is especially noticeable in boys, is also considered characteristic features of Prader-Willi syndrome. Patients are often cryptorchid and have underdeveloped scrotum and penis. Girls also suffer from decreased function of the gonads, but these signs are rarely noticeable until adolescence. As the child develops, intellectual disabilities become apparent, manifested by poor learning ability, small vocabulary, and others. speech disorders. In severe cases, patients also suffer from neurological deficits and symptoms of cardiac and respiratory problems.

During adolescence

The clinical manifestations of Willi-Prader syndrome reach their greatest intensity around puberty. This is due to the pronounced differences between patients and their peers going through puberty. Adolescents with pathology are delayed in development and also suffer from severe obesity. Symptoms of hypogonadism intensify. In girls, the onset of menarche - the first menstruation - is delayed, up to its complete absence, and breasts do not enlarge. Boys have an effeminate figure. Children's height remains below average. Intellectual abilities of patients are reduced, but the ability to read and write is preserved. Lexicon gradually increases, although children still have difficulty expressing thoughts verbally. Teenagers suffer from increased anxiety and nervous excitability. Such behavioral characteristics, combined with a specific appearance, lead to difficulties in the process of socialization of such children.

Possible complications

In some cases, patients experience severe consequences development of Prader-Willi syndrome. Babies with the disease may suffer from birth defects hearts that pose a threat to their life and health. Neurological deficit is associated with the development of seizures, which require adequate control, and in some cases, hospitalization of the child in specialized medical centers. Diagnostic episodes in patients are common diabetes mellitus, which is associated with obesity, which develops against the background metabolic disorders. Excess weight also negatively affects the condition of the musculoskeletal system. In children, spinal deformities worsen and they suffer from pain due to inadequate load on the joints. Patients are predisposed to developing oncological processes. However, Prader-Willi syndrome, with adequate treatment, does not significantly affect a person’s life expectancy.

Reasons for development

The pathology is of a genetic nature, that is, it is associated with the occurrence of mutations in the human chromosome set. Development of specific clinical signs caused by dysfunction of DNA fragments because paternal information is missing. As a result of such changes, there is a failure in the formation of the gonads. During the growth and development of the fetus, the consequences of hypogonadism occur, which include skeletal deformities and metabolic failures.

Diagnostic methods

Confirmation of the disorder begins with an examination. The doctor collects a detailed medical history. The presence of any chromosomal abnormalities in relatives speaks in favor of the formation of a genetic defect. Diagnosis is made based on specific clinical picture Prader-Willi syndrome, as well as the results of the patient's karyotyping. To identify concomitant pathologies and plan further therapy, standard blood tests and ultrasound are performed, allowing photos to be taken internal organs, evaluate their structure and size.

Treatment

No specific methods have been developed to combat the pathology. This problem is associated with the genetic basis of the disease. Treatment of Prader-Willi syndrome is symptomatic and is aimed at both correcting existing disorders and preventing the development of complications.

During infancy, patients often require tube feeding and artificial ventilation lungs in the presence of respiratory failure. When identifying hypotonicity, use massage techniques and physical therapy to support the musculoskeletal system.

As children grow up, they are prescribed hormonal agents. Somatotropin, testosterone and estrogen preparations are used depending on the gender of the patient. Therapeutic measures are also aimed at timely and intensive socialization of children. It involves communicating with a psychiatrist, visiting a speech therapist and a speech pathologist. The duration of therapy is individual and depends on the severity of the changes. In some cases it is carried out surgery for the correction of defects of the musculoskeletal system. Surgical techniques are also used to detect congenital heart defects. IN rehabilitation period various medications. Adrenergic blockers, such as Enap, nootropics, which include Piracetam, and sedatives, for example, Persen, are prescribed.

In infancy, doctors recommend paying special attention to ensuring adequate nutrition. This is necessary for adequate growth of the baby and development of internal organs. For this purpose, feeding schedules are established and special devices, facilitating the sucking process in children with reduced reflexes. Characteristic feature Willi-Prader syndrome is a temporary problem with nutrition, but in some cases the child requires the installation of a nasogastric tube. At the same time, an important condition for adequate feeding is the control of calorie intake, especially during the period of active growth. Consulting a nutritionist will help you make the right daily menu child, which is necessary for the prevention of obesity. Vitamin and mineral supplements are also widely used to provide proper development musculoskeletal system.

To reduce the intensity of cognitive impairment, special stimulating techniques are recommended. They are aimed at improving fine motor skills and speech skills. An important step Treatments include exercises that strengthen muscles and help reduce the manifestation of hypotension.

As the patient gets older, the child must be taught to control his own nutrition. This is due to a constant feeling of hunger against the background endocrine disorders. It is necessary to adhere to a clear eating regimen, as well as limit portion sizes.

Special needs of patients with the syndrome

Patients need outside help and support in many aspects of life. The family should facilitate the child’s interaction with society, and also encourage regular physical exercise. Many patients need to communicate with a psychotherapist to correct cognitive impairment, aggression and other neurological defects.

Prognosis and prevention

The outcome of the disease depends on the severity of its clinical manifestations, as well as the timeliness of treatment. medical care. In the absence of heart defects, impaired renal or pulmonary function, patients live to an advanced age, provided adequate treatment is provided.

Specific methods for preventing the disease have not been developed. Prevention of the formation of pathology is based on genetic analysis of the karyotype of future parents and proper planning pregnancy.

Prader-Willi syndrome is a genetic disease that occurs as a result of a mutation in the 15th chromosome of the father.

Various options for changes in the genetic material of the father, leading to the development of the disease (M - mother, O - father)

Anomalies include:

• deletion of a gene region. This means that these genes were lost during the development of the germ cell. The probability of having two children with this pathology in a family is less than 1%.
• Maternal uniparental disomy (MAD). Baby in progress embryonic development receives two chromosomes from the mother and none from the father. The risk of recurrent anomaly in a second child is also about 1%.
• Imprinting mutation. If there is genetic material from both parents, the activity of the mother suppresses the expression of the father's genes, as a result the child has only one functioning chromosome. The risk of re-mutation is up to 50%.

Note. In addition to Prader-Willi syndrome, there is a similar Angelman syndrome. The difference between this disease is that the described disorders occur not in the paternal, but in the maternal chromosome.

The pathogenesis of this disease is not fully understood, however, when analyzing the clinical picture, it was noticed that most symptoms arise as a result of dysfunction of the hypothalamus.

Clinical picture

The first symptoms of Prader-Willi syndrome appear even before birth. The first signal is the presence of polyhydramnios. The diagnosis is made using ultrasound examination. The consequence of a large amount of amniotic fluid is the incorrect position of the baby in the uterus.

Important! It must be remembered that, in addition to Prader-Willi syndrome, a number of diseases can cause polyhydramnios, for example, infectious diseases, Rh conflict, developmental defects, and others. This symptom is not highly specific.

In the neonatal period, the child will be distinguished by lethargy, weak cry, and poor sucking. All this is associated with muscle hypotonia.

Before the onset of puberty, Prader-Willi syndrome in children manifests itself as delayed mental and physical development. The child has difficulty learning and gets tired quickly.

At the age of 10 - 15 years, clinical symptoms become:

• delayed sexual development;
• hypogonadism;
• growth retardation;
• obesity.

Important! Most people with Prader-Willi syndrome have mild mental retardation (about 40%). 5% of patients have an average level of intelligence. 20% have borderline IQ values ​​between normal and delayed. Less than 1% suffer from profound mental retardation.

The cause of massive obesity is believed to be increased level ghrelin. This hormone is synthesized by the hypothalamus and is responsible for the feeling of hunger. The higher its level, the more you want to eat. In people with Prader-Willi syndrome, the amount of ghrelin is several times increased, which makes them prone to overeating.

Note. The first signs of obesity appear at the age of about 2 years.

Due to disruption of the hypothalamus, the pituitary gland is not sufficiently stimulated, and the level of growth and sex hormones is very low. This leads to infertility due to underdevelopment reproductive system, as well as the absence of a growth impulse.

Diagnostics

Despite a large number of symptoms, the diagnosis of Prader-Willi syndrome is made quite rarely. According to statistics, about 2/3 of people with this genetic anomaly are left without a proper medical opinion.

Most early diagnosis carried out at the prenatal stage. However, it requires strict indications, for example, the presence of children or close relatives with this disease, polyhydramnios.

Important! Amniocentesis is invasive method diagnosis, which has a number of complications including miscarriage or premature birth. Therefore, the need for this study must be carefully considered.

The diagnosis of Prader-Willi syndrome is usually established clinically already at about 10-12 years of age. By this time, a certain habitus (appearance) of the child is formed, and growth and sexual development are also delayed. Confirmed clinical diagnosis genetic analysis.

Treatment

Prader-Willi syndrome, like any genetic disease, is incurable. However, it is possible to reduce the manifestation clinical symptoms and improving the patient's quality of life. With early diagnosis, correction of growth and sexual development begins with the help of synthetic analogues somatotropin and sex hormones.

To combat muscle hypotonia, physiotherapy and massage are performed. To correct breathing problems, especially at night, an assisted nasal ventilation device is used.

Important! Children should receive psychological support from parents in matters of adaptation to children's team and training.

The life expectancy of people with Prader-Willi syndrome depends on various factors. First of all - from the quantity overweight. On average, people suffering from this disease live to 60 years or more, but obesity can lead to early death from cardiovascular diseases, as well as due to breathing problems. Therefore, people with this disease should be regularly monitored by doctors and adhere to a strict diet.