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This is not a symptom of Prader Willi syndrome. Prader-Willi syndrome: how to suspect symptoms of a genetic disease

Prader-Willi syndrome

Prader-Willi syndrome (abbreviated SPV)- this is a rare condition in which seven (or some parts thereof) on paternal chromosome 15 (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 genetic material, which influences the development of the disease - 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 in human groups and those in mouse models have shown that deletion of 29 copies of the C/D box snoRNA SNORD116 (HBII-85) is a major 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 on early stage and begin its treatment, the prognosis for the development of the disease becomes more optimistic. PWS, like autism, is a disease that has very wide range manifestations and signs. The course of the disease differs in each special case and can vary from light form 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 SPV. Daily injections are recommended for children with the syndrome recombinant growth hormone (GH) . Somatotropin ( growth hormone pituitary gland) supports constant increase muscle mass and may 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).

Since there are some difficulties when giving birth to babies with Prader-Willi syndrome, it should be remembered that congenital injuries and oxygen starvation may be complicated by genetic deficiencies resulting 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 treatments for PWS. effective medicines. 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. For academic year, sick children should receive extra 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 it may often be necessary to use 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 television channel Channel 4 showed a program called Can't Stop Eating, which described the daily life of two people from SPV - Joe and Tamara.

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

ICD-9 759.81 OMIM eMedicine ped/1880

Prader-Willi syndrome- a rare genetic abnormality. In Prader-Willi syndrome, approximately 7 genes from chromosome 15 are missing.

Peculiarities

Prader-Willi syndrome is characterized by:

  • before birth: low fetal mobility;
  • often - incorrect position of the fetus;
  • obesity; tendency to overeat;
  • decreased muscle tone (hypotonicity); decreased coordination of movements;
  • small hands and feet, short stature;
  • increased drowsiness;
  • strabismus (squint);
  • scoliosis (curvature of the spine);
  • decreased bone density;
  • decreased function of the gonads (hypogonadism); the result is usually infertility;
  • speech delay, delay mental development; delay in mastering gross and fine motor skills.
  • later puberty.

External signs: in adults the bridge of the nose is pronounced; forehead high and narrow; eyes are usually almond-shaped; lips are narrow.

Diagnostics

The syndrome is diagnosed by genetic testing, which is recommended for newborns with decreased muscle tone (hypotonia). Sometimes, instead of diagnosing Prader-Willi syndrome, doctors mistakenly diagnose Down syndrome (since Down syndrome is much more common).

Treatment

Prader-Willi syndrome is a congenital genetic abnormality and therefore cannot be cured.

However, some therapeutic measures improve the quality of life of people with the syndrome.

In particular, infants with hypotonia should receive massage and other special therapies.

Hypogonadism usually manifests as micropenia and undescended testicles in boys (cryptorchidism); Doctors may recommend waiting until the testicles descend on their own, or recommend surgery or hormone therapy.

To correct increased weight, a diet is used that limits the amount of fats and carbohydrates. Because of the obesity that accompanies the syndrome, it is necessary to closely monitor the quantity and quality of food consumed by a person with Prader-Willi syndrome (usually people with this syndrome are able to eat a lot without getting full).

A possible complication may be apnea (holding your breath during sleep).

Risks

The risk that next child the same parents will also be born with Prader-Willi syndrome, depends on the mechanism that caused the genetic failure.

This risk is less than 1% if the first child has a gene deletion or parthenogenetic (uniparental) disomy; up to 50% - if the failure is caused by a mutation; up to 25% - in case of translocation of parental chromosomes. Parents are recommended to undergo genetic testing.

Development prospects

Most people with Prader-Willi syndrome have mental and speech development. According to research by Kerfs and Freem (1992),

  • 5% of those examined demonstrated an average level of IQ (more than 85 points on the scale);
  • 27% - level on the verge of average (70-85 points);
  • 34% - level of weak lag (50-70 points);
  • 27% - level of average lag (35-70 points);
  • 5% - severe lag (20-35 points);
  • less than 1% is a significant lag.

According to other studies (Cassidy), 40% of patients with Prader-Willi syndrome demonstrate borderline average intelligence or a reduced level of intelligence.

Typically, children with Prader-Willi syndrome have good long-term visual memory, they can learn to read, and they may have a rich passive vocabulary, but their own speech is usually poorer than comprehension. Auditory memory, math and writing skills, visual and auditory short term memory these children are usually much worse off.

Prader-Willi syndrome is often associated with increased appetite, this is due to the fact that the 15th chromosome is connected to the hypothalamus. (However, autopsies of victims with Prader-Willi syndrome did not reveal any hypothalamic defects.)

Links

  • L. Z. Kazantseva, P. V. Novikov, A. N. Semyachkina, E. A. Nikolaeva, M. B. Kurbatov, E. V. Dobrynina. Prader-Willi syndrome in children: new in etiology, pathogenesis and treatment. Moscow Research Institute of Pediatrics and Pediatric Surgery of the Ministry of Health of the Russian Federation
  • Uniparental disomy on the Human Biology website

Wikimedia Foundation. 2010.

  • - (Prader Mlli syndrome) a congenital disease characterized by obesity combined with delayed mental development and the presence of too small genitals in a person; Patients with this syndrome often develop diabetes mellitus … Dictionary in medicine

    • A congenital disease characterized by obesity, combined with mental retardation and the presence of too small genitals in a person; Patients with this syndrome often develop diabetes mellitus.

It is considered a very rare genetic disorder in which seven genes located on the 15th paternal chromosome are completely or partially absent and do not function normally.

This genetic pathology occurs due to the fact that only the copy of a certain gene received from the father functions correctly. The copy from the mother also shows some irregularities. Let's take a closer look.

In the body healthy person copies of genes are present, thanks to which organs can function without any deviations from the norm. With the development of Prader-Willi syndrome, such copies are absent. Currently, there are known diseases that are essentially similar to this disease.

A similar mechanism of occurrence can also be observed in Angelman syndrome, but even in this case, mutations affect genetic material received from the mother. Such diseases usually manifest themselves in various forms and have varying degrees of severity. But, nevertheless, they are incurable.

Reasons for the development of the syndrome

Prader-Willi syndrome is a hereditary determined pathology that develops only with the development of certain anomalies. In other words, with certain chromosomal abnormalities, the parental genes begin to suffer, which leads to serious changes. Clinical picture develops when seven genes in the 15th paternal lineage are missing or not expressed. In this case, the information stored in DNA is not converted into RNA.

Scientists who were engaged in elucidating the causes of this hereditary pathology previously believed that due to such a deviation a homozygote was formed. They then concluded that the predominant characteristics are present in the autosomes, and the main route of transmission of the disease is inheritance.

Geneticists carried out numerous pathologies, with the help of which it was established that the fathers of children affected by the disease had a translocation of chromosome 15. Photos of children with Prader-Willi syndrome are presented in our article.

Genetic mechanism

To date, it has been precisely established that with this pathology, the 15th chromosome is damaged in segments from q11.2 to q13. The same thing happens with Angelman syndrome. However, this disease is characterized by completely different symptoms. Such dissonance can only be explained by such a phenomenon in genetic science as genomic imprinting, as well as uniparental disomy.

With uniparental disomy, both chromosomes are inherited from only one parent, but in order for this to happen, the genetic material must be influenced by certain biochemical factors. This fact was established using prometaphase analyzes and DNA marking of some loci of this chromosome.

Prader-Willi syndrome is caused by two main mechanisms: microdeletion of chromosome 15, acquired from the father, and idiosomy of the maternal chromosomes, both of which are derived from the mother.

With genomic imprinting, changes in phenotype depend on whose chromosomes - the father's or the mother's - the expression occurred on.

Prader-Willi syndrome in children

The mechanisms of disorders occurring in the body of a patient with the syndrome have not yet been fully studied. However, they have a number of symptoms unique to this type of disease. It is believed that patients gain weight due to increased formation of fat cells and decreased levels of lipolysis.

In addition, there are dysfunctions of the hypothalamus, which are mainly noted in its two nuclei - ventrolateral and ventromedial. Such processes lead to failures in the formation of secondary sexual characteristics. Decreased tyronase activity in hair follicles and melanocytes causes the hair, skin, and iris to become hypopigmented.

What are the main symptoms of Prader-Willi syndrome?

Symptoms of the disease

This pathology can be detected even in the early stages of pregnancy if the fetus is incorrectly positioned and has low mobility. In addition, a pregnant woman may experience significant changes in the level of gonadotropin produced by chorionic cells and symptoms of polyhydramnios. These symptoms cannot be used to make a diagnosis, however, they may be a sufficient basis for further diagnosis.

Dysplasia

In children, Prader-Willi syndrome (pictured above) can be expressed in the presence of congenital hip dislocations (dysplasia), weakened muscle tone, and coordination problems. There are cases where a newborn could not suck and swallow on his own. breast milk. In this disorder, nutrition is provided using a tube. Breathing disturbances may occur, and in some cases artificial ventilation is required.

Drowsiness

In addition, there are other symptoms of Prader-Willi disease. For example, children may experience increased sleepiness. As for external factors, then the child experiences developmental delays. Therefore, such patients are characterized by short stature, underdeveloped hands and feet, and strabismus often develops.

Other symptoms

In the future this pathology characterized by the following symptoms:

  1. Curvature spinal column.
  2. Caries of primary teeth and increased thickness of saliva.
  3. Tendency to overeat.
  4. Hypofunction of the gonads, which subsequently leads to infertility.
  5. Obesity.
  6. Delayed motor skills and speech development.
  7. backwardness in psychomotor development.
  8. Delay in puberty.

These symptoms are determined visually. During adolescence, they appear following symptoms:


Diagnosis of Prader-Willi syndrome

This hereditary pathology can be noticed even during intrauterine development when performing an ultrasound. In such cases, women are recommended certain types prenatal diagnostics, and if necessary, specialists use invasive methods to solve the problem.

After birth, an experienced specialist has the right to make a diagnosis of Prader-Willi disease during the initial examination of the baby. However, to confirm it, special genetic testing. The content of the mother's blood is also examined. human chorionic gonadotropin. Thanks to such methods, it is possible to identify submicroscopic and functional pathologies at the DNA level.

What criteria are used to make a diagnosis?

Diagnosis can be made by the following clinical criteria:

  1. At birth low weight and child growth in cases of full-term pregnancy.
  2. Incorrect position, including breech presentation of the fetus.
  3. Other microanomalies in development.
  4. Expressed system.
  5. Reduced pigmentation of skin and hair.
  6. Obesity, which usually develops by six months.
  7. Delays in psychological, motor and speech development.

Children who have this syndrome, constantly require food and move very little. Due to excessive weight gain, they may experience complications such as sleep apnea, which is often the cause of death during sleep.

What is the treatment for Prader-Willi syndrome?

Treatment

Doesn't exist until now specific methods treatment of the syndrome. Therapy is usually symptomatic. If a newborn has problems with breathing, he is transferred to artificial ventilation, and if he has problems with swallowing, he is given enteral nutrition. In cases of decreased muscle tone, massage and a variety of physiotherapy methods are indicated.

Children with Prader-Willi disease are given daily recombinant growth hormone, which supports muscle growth and helps reduce the patient's appetite. Human chorionic gonadotropin is also replaced.

During such a disease, hypogonadism is observed, that is, insufficient development of the gonads and changes in the functions of the reproductive system. In this case, hormone replacement therapy is carried out to stimulate growth and puberty.

In some cases, children with speech delays and lack of psychological development may require the help of a psychiatrist or psychologist. And most importantly, it is necessary to constantly monitor the amount of food they consume. Children with Prader-Willi syndrome are prescribed special diet therapy.

The risk that the second child of a couple whose first suffers from this disease will be born with the same genetic problems is incredibly high. To parents in such a case It is recommended to undergo a consultation, where specialists will comprehensively examine them and calculate the risks.

Children with Prader-Willi disease require constant monitoring by an endocrinologist and neurologist.

Improvement of general well-being against the background of the disease

Among people who have the syndrome, rates of somatic morbidity are significantly increased, communication is difficult, and there is a need for specific help due to the characteristics of their disease. They may not understand why they need to take care of their health. If the condition is satisfactory and the patient feels well, his quality of life improves.

The following factors need to be addressed:

  1. Increased risk sudden death.
  2. Probability of illness.
  3. An increase in the number of factors that determine material well-being.
  4. Insufficient access to health and wellness services.

People with Prader-Willi pathology have special needs caused by their underlying disease. They need special treatment for acute and chronic pathologies, help in strengthening general health etc. Their needs should be met in special institutions that provide medical care, which, in turn, may consist of treating the underlying disease and somatic disorders associated with the underlying pathology.

What is the life expectancy with Prader-Willi syndrome? This disease often leads to a decrease in the life expectancy of patients up to 60 years. However, the prognosis for the recovery of such people is very disappointing.

The article presented detailed description Prader-Willi syndrome. Now you know what kind of pathology this is.

With the development of molecular genetic methods, the diagnostic process various diseases greatly simplified. Prader-Willi syndrome - congenital disease hereditary nature, accompanied a large number 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 advancement of science and the advent of various molecular testing methods, scientists have been able to accurately identify the 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.

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 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 year and a half 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, manager of all endocrine system- 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.

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 constant feeling hunger, food does not bring satiation. 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.

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 neurosis obsessive states, the manifestations of which are very diverse, starting from performing household chores and ending with 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. Expressing thoughts in writing 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 distinguished by a wide nose, almond-shaped eyes, and 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 of oncological pathologies of the hematopoietic system.

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 sides 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 genetic analysis. 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. Obesity is especially severely affected lower limbs

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.

For Prader-Willi syndrome, it is necessary to carry out differential diagnosis with the following diseases:


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, when early diagnosis and timely initiation of therapy can 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 to enhance the patient's growth and muscle mass gain and will even reduce appetite to some extent.

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 in 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.


A special device will help prevent sleep apnea

Metabolic drugs are prescribed to treat metabolic disorders.

Physiotherapy, sports, massage

WITH 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. IN preschool age allowed 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 there are severe feeding problems in newborns, it is necessary 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.

A 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 proper therapy, the quality of life of patients significantly improves.

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 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 prenatal analysis of the hereditary material of 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 chromosome section 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.