Prader-Willy syndrome: description, diagnosis, photo, treatment. Clinical Picture and Treatment of Prader-Willie Syndrome Prader-Willy Syndrome Reasons

The date: 19.10.2019

Description:

Prader's syndrome - Willy is a rare genetic anomaly. In the imprint, approximately 7 genes from the 15th chromosome inherited from the Father are not expressed during the Prader-Willy syndrome.

Kariotype 46 xx or Hu, 15q-11-13. The disease was first described by Swiss pediatricians A. Pader and H. Willi in 1956

According to the register of the association of patients with Prader-Willie syndrome, in the United States and Canada for December 1986 there were 1595 patients. In recent years, it was possible to establish a population frequency of pathology, which is 1: 10,000 - 1: 20,000.

Causes of Prader's syndrome - Willy:

The authors first described the syndrome, expressed an assumption about the autosomal-recessive type of inheritance of the disease. Then there were reports of the possibility of autosomal dominant transmission of the disease. Confirmation of these hypotheses could serve as observed family cases of pathology. However, most of the described clinical observations of Prader's syndrome - Willie wore sporadic.

Subsequent studies allowed to establish in children with the syndrome of Prader - Willy certain chromosomal disorders. Cytogenetic analysis showed that chromosomal anomalies in patients were represented either by translocations (t 15/15) or mosaicism. In 1987, the first reports of the chromosome microdetsis were emerged. However, the final identification of chromosomal changes in the prosecution syndrome - Willy became possible only after the introduction into the practice of molecular genetic research methods.

Currently, it has been established that the development of Prader - Willy syndrome is associated with damage to the critical chromosome area 15 (segment Q11.2- Q13). It turned out that damage to the same section of chromosome 15 is observed with a different disease - an angelman syndrome, the clinical picture of which is significantly different from the Prader - Willy syndrome and is characterized by the early (age-age 6-12 months), the slowdown in psychomotor development, microcephalus, and speech disorders ( In 100% of cases), attaxia, uncontrolled by the violent laughter, frequent epileptiform seizures, a specific expression of the face.

Thus, despite damage in the syndromes of Prader - Willie and the angelman of the same chromosome 15, the clinical manifestations of both diseases are opposite.

An explanation of phenotypic differences was obtained only in recent years. It turned out that the development of these diseases is associated with new genetic phenomena - genomic impression and unparent disyomia.

Genomic Imprint is a new phenomenon, open due to the successes of molecular genetics. It means different expression of genetic material (homologous alleles) in chromosomes, depending on paternal or maternal origin, i.e. Specifies to the influence of parents on the child's phenotype. To date, it was believed that the contribution to the exhibition (expression) of the genes of the father and the mother is equivalent.

In essence, genomic imprinting is a sexual and tissue-dependent complex modifier of the gene activity of some locus chromosomes depending on their parental origin. The manifestations of genomic imprinting are revealed under other diseases - sweat syndromes, Beckvita-Vidman, Silver-Russell, Fiberglass and others.

Unparent (one-arrangement) discomium - the inheritance of both chromosomes is only from one of the parents. For many years it was believed that such inheritance is impossible. Only with the help of molecular genetic markers managed to prove the possibility of one-year disyomia. The nature of the unparenched disciomia is completely unclealed, but it has been established that it is obliged to its origin a number of genetic and biochemical disorders.

It should be noted that with the help of a conventional study of the chromosomal composition of the karyotype to identify microdelilation or unparent disyomy is impossible. For this, special cytogenetic and molecular genetic methods are applied - Promethax analysis, the use of DNA markers of certain sections of chromosome 15 (research of methylation processes), etc.

To date, Prader's syndromes - Willie and Angelman serve as a generally accepted model for studying new in clinical genetics and complex phenomena - genomic imprinting and unparent discomium.

It has been established that the Prader - Willie syndrome may be due to the two main mechanisms. The first of them is the microdelization of chromosome 15 (15Q11.2-Q13), which is always paternal origin. The second is the maternal isoomy, i.e. When both chromosome 15 are obtained from the mother. The development of Angelman's syndrome, on the contrary, is associated with the microdelling of the same section of chromosome 15, but maternal origin, or fatherly isozyme. Most (about 70%) of Prader's Syndrome - Willie is due to micride, the rest is the discomium. In this case, the lack of clinical differences between patients with microdelliosis and isoodisia draws attention.

Pathogenesis:

The pathogenesis of Prader's syndrome - Willy to the present remains a low-prospective. Assumptions are suggested that patients are due to significant (more than 10 times) enhancement of fat synthesis from acetate and extremely low lipolysis processes.
The hypogonadotropic type can be associated with the dysfunction of the hypothalamus, mainly in the region of the ventromate and ventrolatoral nuclei. The correctness of this point of view is confirmed by the effectiveness of the treatment of patients with pharmaceutical preparations (clomiphene), which brought to an increase in the plasma of the content of luteinizing hormone, testosterone, the normalization of the renal excretion of gonadotropins, spermatogenesis and the emergence of secondary sexual signs.

One of the explanations of the hypopigmentation of the skin, hair and iris are the decrease in the activity of tyrosinase in the hair follicles and melanocytes, as well as a decrease in the pigment in the retina.

Attention is drawn to the increased risk of leukemia in patients with Prader's syndrome - Willie. Studies revealed a decrease in DNA repair (up to 65% compared with 97% in a healthy child) in the lymphocytes of patients with this pathology. It is possible that the low reparation capacity of DNA can play a fateful role in the development of malignant neoplasms in people with Prader's syndrome - Willie.

Symptoms of Puder's syndrome - Willy:

Children with Prader's syndrome - Willy are usually born of domestic with minor intrauterine hypotrophy and often in. In 10-40% of cases, a berium presence is observed.

During the course of the disease, two phases can be distinguished: the first is characterized by children 12-18 months of life. It is characterized by severe muscular hypotension, a decrease in reflexes - moro, sucking and swallowing, which makes it difficult to feed the child. The second - comes later, a few weeks or months. The constant feeling of hunger, leading to the development of obesity, and the deposition of fat is observed mainly on the body and in the proximal limbs.

Muscular hypotension gradually decreases and almost completely disappears to school age. Feet and brushes of patients disproportionally small - acomicry. Children have hypogonadism (the boys - the hypoplasia of the penis, the scrotum, and the girls are underdevelopment of the genital lips and in 50% of cases - uterus).

The growth of patients is often reduced. 75% of children have hypopigmentation of the skin, hair and iris. Often diagnosed. Psychomotor development lags behind the age norm - the coefficient of intellectual development - from 20 to 80 units. (at the rate of 85-115 units). Speech is difficult, vocabulary reduced. Patients are benevolent, the mood is characterized by frequent shift. Disorders of coordination, rationalism.

Other anomalies are found: microdontia, gypoplasia cartilage ohhrovin, ecropion (twist of the century) ,.

Prader-Willy syndrome is a hereditary genetic violation that arises due to the lack of a paternal copy or discomation of the region of the chromosome. Kariotype 46 xx or Hu, 15q-11-13. Anomaly was opened in 1956 by Prader, Willie, Ziegler, Fanconi and Labhart. There is another similar disease - angelman syndrome, but in this case the maternal genes are affected. Both violations are incurable.

Causes of syndrome

The disease is developing due to the violation of the normal operation of the area Q11-13 15 pairs of chromosomes. SPV may arise due to the defeat of only the father's chromosome.

For the causes of the development of the disease include:

The loss of the site Q11-13 Gameta Father. It occurs about 70% of people.
The absence of a copy of the 15 chromosome of the father and the discomium chromosome of the mother. Observed in 20% of cases.
In 5% of the illness, the fetal deactivation occurs due to the methylation of the father's chromosome at the area Q11-13.

Due to the fact that during the Prader-Willy syndrome, the father's chromosome is defeated and its entire work is disturbed, an enhanced deposition in subcutaneous fatty cells is observed. The exchange of sex hormones is also hampered, which means that the healthy functioning of the genital organs becomes impossible, various anomalies appear in the structure of the reproductive system organs.

SPV patients are predisposed to the formation of malignant tumors due to genetically laid weak DNA protection.

Symptoms of Prader Willy syndrome

The presence of violations can be found in the early period of pregnancy. The fruit is not only sedimed, but also is incorrectly located, its asphyxia or hypotrophy is possible. Sometimes there is a multi-way. Also in a pregnant woman changing the level of gonadotropin. Children are often born prematurely, they are prone to buttock preview. Based on these indicators, experts should carry out additional diagnostics.

In infancy, with Prader-Willie syndrome, a muscular tone has a weakened, the coordination of movements is impaired, the hip dislocate is often found. Sometimes the baby has a sucking and swallowing reflex, so power is possible only by probe. In rare cases, breathing is disturbed, artificial ventilation of the lungs becomes necessary.

Children, patients with syndrome, regularly experiencing drowsiness, apathy, fatigue. Often they are stubborn, hostile and aggressive.

Already in infancy, the dysmorphy of the skull and the accords of the hands and legs becomes noticeable, which manifests itself:

Squint;
With almond-shaped eye;
Large bridge;
Elongated shape of the skull;
Small mouth or narrow top lip;
Impairment of eye iris, skin and hair;
Low ears.

As the disease develops, a person has observed:

Spinal disease: scoliosis and osteochondrosis;
Elevated appetite, and, therefore, overweight;
PTA cavity diseases: caries, gingivitis;
Guide in mental development;
Ataxia;
Muscle spasms;
Later reproductive maturation.

change limbs when

Already in adolescence, children with the symptom of Prader-Willie are not like their peers. For patients, it is characteristic:

Low growth and overweight;
Study in speech development;
Excessive flexibility;
Inability to learning.

In children with SPV, the development coefficient does not exceed 80 units, while the norm is 85-115 units. However, they have a very developed imagination, the guys can write and read, but because of a small set of words that they own, their speech abilities are still lagging behind the norm. Mathematics and calligraphy are difficult.

Mental state in patients is usually unstable. Regular flashes of aggression, wrath and hysteries are replaced by friendly. For such children, neurosis of obsessive states, hallucinations, depression, sometimes there is dermatomalism - leather skin on the body.

Patients suffer due to disorders of the hypothalamus. As a result, underdevelopment of ovaries and testicles appears, and, therefore, the production of hormones is disturbed. It also leads to insufficient pigmenting of the skin, eye and hair. The child appears an endless sense of hunger, obesity begins. The deposition of fat is usually in the field of hips and abdomen.

Diagnosis of SPV

Diagnosis of the disease at its initial stages makes it possible to prevent the development of some of its symptoms:

Therapy, started at an early stage, produces the right food behavior in the child;
If up to 18 months of life, experts began to adjust the ratio of growth hormones, the body of the baby will develop correctly as in a healthy person.

Usually the diagnosis is made on the basis of external and internal symptoms. In infants, the disease is assumed to be 5 gained points on a special scale, in children over 3 years old - at 8 (4 of them should be large signs).

Large signs equal to one point:

Periodic difficulties with feeding a newborn;
Delay in cognitive development up to 5-6 years;
Special features of the face: Almondless eye cut, small mouth, narrow upper lip;
Muscle hypotension, revealed from 1 to 3 years old;
Changes in the structure of the bodies of the reproductive system;
Development of obesity.

Small signs (0.5 points):

Lack of fetal activity;
Refraction anomalies;
Lesion of skin;
Reduced pigmentation of eye iris, hair and skin cover;
Thick saliva;
Short stature;
Disproportionate limbs;
Problems with sleep;
Mental deviations in behavior;
Violation of articulation.

In addition to the above criteria, karyotyping should be carried out for accurate diagnosis and determine the presence of various modifications at the level of 15 chromosome. DNA markers and the method of combometaphase analysis are also used.

Often, pathology becomes noticeable during the ultrasound study of pregnancy. The specialist notes an increase in the oily water, hypoxia of the fetus or its non-standard location. For the slightest suspicions for the presence of a violation of the future mother, it will have to undergo perinatal diagnostics, including genetic testing and blood test to the level of gonadotropin. Also to determine the syndrome it is necessary to apply special molecular genetic markers.

Children, sick SPVs move little, often steal products, hide food and, even despite the recent snack, constantly remain hungry. In this case, the threat of apnea appears - stopping the breath in a dream, dangerous possible fatal outcome.

Treatment of SPV

Unfortunately, even in the 21st century the disease is not amenable to therapy. Experts can only ease the patient about the disease. For example, if the baby has breathing problems, doctors translate it to artificial ventilation of the lungs. In the event of a swallowing - the patient is prescribed enteral nutrition through a special probe. With reduced muscle tone, medical massage or physiotherapy is needed.

In rare cases, the patients need a psychiatrist. Psychological assistance is especially needed by children with a lagging mark of psycho-emotional development and speech.

Chorionic gonadotropin should also be observed regularly. In order to stimulate timely sexual development, you need to take hormonal drugs, and the boys also reduce the testicles.

Children with this syndrome need to regularly introduce somatotropin. He will save a person from a permanent feeling of hunger, which means it will prevent the appearance of obesity and will help increase the muscular mass. But in any case, the parents must follow the appetite of the child, and sometimes a nutritionist.

Increased kid adults need to understand that his health is directly dependent on nutrition. And if in preschool age you can practically do not limit the diet of the child, then in the younger school - it is necessary to provide a diet with low fat content, the caloric content of which should not exceed daily spending. During the period of active treatment in revealed obesity - up to 1000 kcal.

It is advisable to hide all the products from the child, or close the refrigerator on the castle. Children with Prader-Willie syndrome should move a lot, engage in various sports and how to go to evening walks as much as possible. They need to be registered with a neurologist and an endocrinologist.

The needs of people with SPV

Anyone sooner or later needs to provide medical care, treating various diseases and strengthening its immunity and health as a whole. Prader-Willie syndrome patients do not become an exception. But often patients meet with the following barriers to health:

Difficulties in communicating and understanding with others;
Insufficient mobility due to obesity;
Psyche disorders;
Small knowledge of society about the disease;
The lack of special schools for children with SPV.

Complications

Prader-Willie syndrome itself is usually not dangerous to human life. Timely therapy helps people to live at least up to 60 years. But if the treatment is absent or appointed incorrectly, the following complications may appear:

Heart failure;
Diabetes;
Spinal diseases;
Malignant tumors, incl. leukemia;
Diseases of the respiratory and nervous system, (the respiratory stop is especially dangerous during sleep);
The destruction of the cartilage due to excess weight.

Prevention

It is impossible to prevent a congenital disease, the main thing in this case is to prevent the appearance of complications. The treatment of syndrome should be started as early as possible, then the child will be easier to adapt to school learning and to life in society.

The prevention of the disease can include medical and genetic consultations of families who have a predisposition to the occurrence of syndrome. Future parents need to carry out an antenatal genetic study that will help determine the features of the structure of the fruit chromosome.

To improve the life of a child with SPV, the continuous cooperation of medical institutions, parents and the kid himself should be ensured.

Forecast

Most often, the forecast is directly determined by the presence of heart disease, respiratory organs, kidney and the state of the endocrine system. According to the formated statistics, the life expectancy of people with Prader-Willie syndrome, which did not have enough active treatment, is about 30 years. But there is also a lot of cases when people lived 50-60 years. The main thing is to be registered with the doctor, to fulfill his prescriptions, regularly undergo all the necessary research.

Video: Child with Prader-Willie syndrome

Prader's syndrome - Willy - rare genetic pathology. The development of the disease is associated with the following processes:

impaired gene function;
no expression

The main function of genes is the inclusion of the function of the genetic system. Manifestations in male - lack of hair on face.

The puberty period is accompanied by a lack of hair. The description of the pathology falls in the fifties. This syndrome is observed relatively rarely.

The pathology is described by many scientists.

Prader's Syndrome - Willy - etiology

Characteristics of pathology:

the absence of seven genes;
expression process

Genes are transmitted from the father. With chromosomal pathologies of the mother manifests itself a. The disease is manifested by the lack of a copy of the genes.

Prader's Syndrome - Willy - Signs

Symptoms are the following clinical manifestations:

the process of joint dysplasia;
the presence of hypotonus;
overweight;
reducing coordination of movement;
reduction of bone density;
the presence of a small foot size;
the presence of a small brush size;
low growth;
sleepy state;
oblique eyes;
spine twisted

Exterior signs:

thick saliva consistency;
reduction of sexual function;
violation of teeth development;
infertility

Other signs:

mental disorders;
speech violations;
violation of puberty;
reduced motor function

Other manifestations in patients:

the brief size is large;
the presence of narrow forehead;
the presence of high forehead;
the presence of a narrow luba

Prader's Syndrome - Willy - Diagnostic Methods

Diagnosis is carried out in the womb. Signs of intrauterine lesion:

the fetus mobility is broken;
the position of the child is broken;
the presence of multi-way

Diagnostics includes a genetic study. Risk group is a newborn child with a reduction in muscle tone. Similar diseases:

signs of Down syndrome;
mopathia

Symptoms Late:

cesarean section has signs;
predicate buttock;
reduction of sucking function;
muscle weakness;
breathing disorder;
the presence of hypogonadism

The similarity of the external signs of children among themselves.

The similarity of the Angelman and Prader syndrome - Willy

Pathological syndromes are similar. Combines their mutation. Enzyme - product gene.

The disease is similar to the name of the pediatrician.

Prader's Syndrome - Willy - Therapy

Congenital origin of the disease. Methods of therapy are not studied. What are the methods of therapy?

There is a healing procedure. Methods of treatment:

massage;
specific treatment;
defectologist;
speech therapist

Medicase therapy includes:

using growth hormone;
gonadotropins

Manifestations in the male field:

reduced gonad;
microen;
signs of cryptorchism

In the absence of omit, the eggs use the operation. Also used therapy hormones. Dietary power includes the following:

reduction of carbohydrates;
reduced fat

Control is related to nutrition. Patients appetite is not broken. Complications:

breath disorder at night;
signs

Prader's Syndrome - Willy - Forecast

It is possible to develop syndrome at secondary birth. The reason is the generation failure. Risks are reduced in the generation of gene. Risk by 50 percent for mutational lesion.

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

speech development detained;
mental development detained

Development lag may be as follows:

intensive nature;
the average character of the backlog;
weak character lag

More often an average intelligence is diagnosed in such patients. The memory of these children is good. It has a long-term nature.

Possess children in the following properties:

reading ability;
passive vocabulary;
understanding speech is not broken;
broken hearing memory;
mathematical skills Middle

Symptoms of the disease:

increased appetite;
hormone increases Grethin

These features may indicate a decrease in the number of cells in the hypothalamus. Less often these features are not related to it.

Life expectancy

With this disease, life expectancy decreases with respiratory disorders. But in the presence of timely diagnosis and therapy, the quality of life increases. The duration of life in this case will depend on the following:

correctness of treatment;
the presence of severe or average lesion;
symptoms of respiratory disorder

A person can die in a dream with this syndrome. The reason is a disturbance of breathing, suffocation. If pathology is characterized by external signs, then use operational intervention.

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

Prader-Willy syndrome is a rare genetic problem characterized by the loss of the father's 15th chromosome. Such a defect is accompanied by the development of signs of hypogonadism, obesity and mental retardation. The first symptoms of the disease are manifested in infant age, often exacerbating as the child's development and development. The diagnosis of pathology is based on an estimate of the function of the endocrine system in combination with specific signs of disorder. Treatment is symptomatic and is aimed at reducing the intensity of the manifestations of the disease, as well as the prevention of complications.

General Information on Willy Prader Syndrome

The first mention of pathology dates back to 1887. Langdon Down described a teenage girl, who has noted a delay in physical development, hypogonadism and obesity. Initially, the disease was called "Polysaria". The full characteristic of the syndrome was given by Swiss doctors Prader, Willie and Lubhart in 1956. Later in the course of deep study, the doctors identified the exact localization of the genetic mutation, which led to the occurrence of the disease in children. They also associated changes with Angelman syndrome. Both disorders are provoked by defect in the structure of 15 chromosome. At the same time, in one case an anomaly is formed in the mother copy, and in the other - in the paternal. Pathology was named Willy Prader's syndrome in honor of doctors who have made the greatest contribution to studying it. The disease refers to the number of rare, since its prevalence fluctuates within one case by 10-25 thousand newborns. Sexual or racial predisposition is not installed.

Forms and signs of illness

In genetics, several karyotype defects are accepted, leading to the development of Prader-Willie syndrome. They determine the intensity of the manifestation of the symptoms of the disease. Distinguish the following forms:

The most common phenotype, in which the loss of the father's copy of the chromosome in the process of cell division occurs. It is diagnosed in 70% of patients and is associated with classical signs of lesion, including the pituitary glands, obesity and mental backwardness.
In the chimera patients, the karyotype is formed due to one-year maternal disciomia. This means that during the intrauterine development, the fetus receives the 15th chromosome from a woman only, and men's genetic information is lost. This phenotype is associated with a slight course of disorder. The child has more developed intellectual abilities, as well as less behind in growth.
The rarest defect variant is the result of translocation of sections of chromosomes, combined with imprinting imprinting process during cell division. A similar anomaly is conjugate with the maximum intensity of clinical manifestations. At the same time, children also significantly increases the risk of developing hazardous complications, including heart defects.

The symptoms of Prader-Willie syndrome are recorded even during pregnancy. The indirect signs of the development of pathology consider the small activity of the fetus and its improper location. There is also a multi-way and change in the level of gonadotropin in the future mother. 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. The kids suffer from severe muscle hypotension, often diagnosed dislocation of the thigh against the background of congenital joint dysplasia. In children with Prader-Willie syndrome, there is also a decrease in the suction and swallowing reflex, up to their complete absence. For several months, the ability to drink breast milk can be spontaneously recover. Patients with a disease have various deformations of the face and limbs, including microcephalus, the underdevelopment of ear cartilage, as well as disproportionately reduced feet and brushes. Hypogonadism is also considered characteristic features of Prader-Willie syndrome, especially noticeable in boys. Patients are often cryptors, they are underdeveloped scrotum and sexual member. Girls also suffer from reducing the function of the sexual glands, however, these features are rarely noticeable to adolescent age. As the child develops, intellectual deviations are becoming obvious, manifested by poor learning, low vocabulary stock and other speech violations. In severe cases, patients also suffer from neurological deficit, they have symptoms of failures in the work of the heart and respiratory system.

In adolescence

The highest intensity clinical manifestations of Willy Prader syndrome reach a publity period. This is due to the pronounced differences of patients from peers undergoing phase of puberty. Teenagers with pathology are lagging behind in development, and also suffer from severe obesity. Symptoms of hypogonadism are amplified. Girls are postponed by the onset of menarche - the first menstruation, up to its complete absence, does not increase the chest. The boys have a familiar shape. The growth of children remains below average. Intellectual abilities of patients are reduced, but the ability to read and write. Vocabulary gradually increases, although children still have difficulties with a verbal expression of thoughts. Teenagers suffer from increased anxiety and nervous excitability. Similar features of behavior in combination with a specific appearance lead to the emergence of difficulties in the process of socializing such children.

Possible complications

In some cases, patients are registered by the difficult consequences of the development of Prader-Willie syndrome. The kids with a disease may suffer from congenital heart defects that carry the threat of their lives and health. Neurological deficit is associated with the development of convulsions that require adequate control, and in some cases and the hospitalization of the child into specialized medical centers. The episodes of diagnostics are common in patients of diabetes, which is associated with obesity, forming against the background of metabolic disorders. Overweight negatively affects the state of the musculoskeletal system. In children, the deformations of the spine are aggravated, they suffer from pain due to inadequate burden on the joints. Patients are predisposed to the development of oncological processes. However, Prader-Willy syndrome, with adequate treatment, does not significantly affect the life expectancy of a person.

Causes of development

Pathology has a genetic nature, that is, it is associated with the occurrence of mutations in a chromosomal set of person. The development of specific clinical signs is caused by a violation of the function of DNA fragments, since paternal information is missing. As a result of such changes, a failure in the formation of the genital glands is noted. In the process of growth and development of the fetus, the consequences of hypogonadism occurs, which include the deformations of the skeleton, metabolic malfunctions.

Diagnostic methods

Confirmation of disorder begins with inspection. The doctor collects detailed history. The presence of relatives of any chromosomal anomalies speaks in favor of the formation of a genetic defect. The diagnosis is made on the basis of a specific clinical picture of Prader-Willy syndrome, as well as the results of karyotyping of the patient. To identify concomitant pathologies and drawing up further therapy, standard blood tests and ultrasound are conducted to make photos of internal organs, assess their structure and sizes.

Treatment

Specific methods of dealing with pathology not developed. This problem is associated with the genetic basis of the disease. The treatment of Prader-Willie syndrome is symptomatic and is directed both to the adjustment of the formed disorders and the prevention of the development of complications.

In infancy, patients often require probe nutrition, as well as carrying out artificial ventilation of the lungs in the presence of respiratory failure. When the hypotonus is detected, massage techniques and physiotherapy are used, allowing to support the musculoskeletal system.

In the course of growing children, hormonal agents are appointed. The preparations of somatotropin, testosterone and estrogen are used, depending on the floor of the patient. Therapeutic measures are also aimed at timely and intensive socialization of children. It implies communication with a psychiatrist, visiting a speech therapist and a flaws. The duration of therapy is individual and depends on the degree of severity of changes. In some cases, operational intervention is carried out on the correction of defects of the musculoskeletal system. Surgical techniques are used in identifying congenital heart defects. In the rehabilitation period, various drugs are applied. Adrenoblastors are prescribed, such as "ENAP", nootropics to which "piracetam" and sedatives, for example, "Persen".

In infancy, doctors recommend paying special attention to ensuring full nutrition. This is necessary for the adequate growth of the baby and the development of internal organs. With this purpose, feeding schedules are established, as well as special devices facilitating the process of sucking in children with reduced reflexes. The characteristic feature of Willy Prader's syndrome is the temporaryness of nutritional problems, however, in some cases, the child is required to install a nasogastric probe. In this case, an important condition for adequate feeding is and controlling the calorie content of the diet, especially during the period of active growth. Consultation of the nutritionist will help correctly make a daily menu of the child, which is necessary for the prevention of obesity. Vitamin and mineral supplements are widely used, ensuring the correct development of the musculoskeletal system.

To reduce the intensity of cognitive violations, special stimulating techniques are recommended. They are aimed at improving small motility and speech skills. An important stage of treatment is both exercises that allow strengthening muscles and help reduce the manifestation of hypotension.

As the patient grows, the child is required to control its own power supply. This is due to the constant feeling of hunger against the background of endocrine disorders. It is necessary to comply with a clear mode of food intake, as well as the limitation of portions.

Special needs of patients with syndrome

Patients need extraneous assistance and support in many aspects of life. The family should contribute to the interaction of a child with society, as well as encourage regular physical exertion. Many patients need to communicate with a psychotherapist for the correction of cognitive disorders, aggression and other neurological defects.

Prediction and prevention

The outcome of the disease depends on the severity of its clinical manifestations, as well as the timeliness of the provision of medical care. In the absence of heart defects, disorders of the kidney function and lungs are waiting for older ages under the condition of adequate treatment.

Specific methods of prevention of illness is not developed. Warning of the formation of pathology is based on the genetic analysis of the karyotype of future parents and proper planning of pregnancy.

In the process of intrauterine development, violations arise in a chromosomal set of a child. In particular, they relate to the functioning of the section Q11-13 fifteenth pair. Answering the question from which it may be, and how the disease under consideration is manifested in the future, experts always associate it with disturbances at the level of the father's chromosome.

Very often, Prader-Willie syndrome is accompanied by:

Deletion, that is, the total loss of the region Q 11-13 of the father's gamets with a frequency of 70 cases out of 100.
The lack of a copy of the fifteenth chromosome of paternal origin and the subsequent replacement of this copy of the maternal with a frequency of 20 cases out of 100.
Deactivation at the embryonic development stage in the molecule mutation and the preservation of the nucleotide DNA sequence with a frequency of 5 cases out of 100.

Normally, a copy of the gene, obtained from the father, should work, while maternal does not function. Thus, the inability to solve natural problems in mind the absence of this working copy may cause the development of the disease.

Symptoms

The first signs of the disease are manifested at birth. Absolutely, most of the kids diagnosed with Prader-Willie syndrome appear on light premature with obvious intrauterine hypotrophy, that is, atypically low mobility. Depending on the phase, the disease is characterized by:

Muscle hypotension. Additionally, the syndrome is combined with reflex moro, deficiency of tendon reflexes, a tendency to hypothermia.
Polyphagia. The bright manifestations of the disease in the form of a permanent feeling of unauthorized hunger begin with the age of 6-12 months. Children with Prader-Willie syndrome are always obesity. The deposition of subcutaneous fat occurs in the field of proximal parts of the limbs, on the torso. The brushes of the child and its feet remain small, not corresponding to the proportions of the body. Hypotension at this phase is minimized.

Juvenile patients lagging behind their peers in physical development. Gayoplasia is noted in the field of external genital organs - internal girls, both cryptorchism.

Psychomotor development of children with a diagnosis of Prader-Willie syndrome does not match the norm. The child has excellent visual memory, quickly learns to read, but speech development slowdown, vocabulary is limited. A minor patient with difficulty is the development of mathematics, letters. He badly remembers information on rumor.

The list of symptoms can be complemented:

the presence of a high nose in the form of the arch;
dryness mucous membranes of oral cavity;
microcephalus;
damage to the enamel of teeth and caries;
hypoplasia cartilage tissue ears;
frequent convulsions and sturdy;
spinal curvature;
coordination disorders;
the presence of a transverse tuning fold.

All patients with Prader-Willie syndrome are marked:

wide nose of large sizes;
excess body with fat deposition in the abdomen;
increased skin sensitivity with instant bruises;
disproportionately small hand and legs with narrow fingers.

Diagnostics of Prader-Willie syndrome at the child

The basis for diagnosis is symptoms of disease confirmed by genetic analyzes. In order to recognize the disease, the method of molecular genetic analysis or cytogenetic survey is used. In addition, doctors work with DNA markers of specific zones of the 15th and others. Chromosomes. To diagnose the disease without appealing to these methods is impossible, in view of its similarity with others - for example, Down syndrome.

Complications

What is dangerous by Prader-Willie syndrome? As a rule, it does not threaten life, and the forecast in the presence of treatment is favorable. The average life expectancy of patients is 60 years or more. Possible threats to health and life are:

diabetes;
leukemia.

Treatment

Taking into account the results of the diagnosis, doctors decide what to do to improve the quality of the child's life and promote its successful adaptation in society. Cured the disease is completely impossible. And in order to prevent the consequences and minimization of current symptoms, the course of treatment includes mainly physiotherapy - massage, LFC, etc.

What can you do

Parents must treat the child together with doctors. Only in such conditions can be counted on really successful results. So, it is necessary to ensure the patient regular classes with a logop and a defectologist, learning in groups or individual. When prescribing drug treatment, it is necessary to comply with the prescriptions of the doctor.

What does the doctor do

Western practice is the appointment of hormone therapy. Hormone treatment is the regular injections of the Growth Hormone. The introduction of gonadotropins can also be used to replenish the lack of their natural work out. If the disease is accompanied by microsenia and under-definition, the boys may not be enough for hormonal therapy, and only the operation will help cure a symptom. In order to correct overweight, the doctor prescribes a rigid low-carb diet.

Prevention

An innate disease cannot be prevented. All that remains to make parents is to prevent complications. The earlier the child will be prescribed treatment, the better the quality of his life in the future will be. The child is capable of adapting in society, learning and interaction with others.

And caring parents will find full information about the symptoms of the disease of Prader-Willie's syndrome in children. What is the difference between signs of illness in children in 1.2 and 3 years from the appearance of the illness from children in 4, 5, 6 and 7 years? How best to treat the disease of Prader-Willie syndrome in children?

Take care of the health of loved ones and be in Tonus!