Hereditary obesity: Prader-Willi syndrome. All about Prader-Willi syndrome, Labhart-Willi syndrome Prader-Willi syndrome

Description:

Prader-Willi syndrome is a rare genetic abnormality. In Prader-Willi syndrome, approximately 7 genes from chromosome 15, inherited from the father, are absent or not expressed.

Karyotype 46 XX or XY, 15q-11-13. The disease was first described by Swiss pediatricians A. Prader and H. Willi in 1956.

According to the registry of the association of patients with Prader-Willi syndrome, in the USA and Canada as of December 1986, there were 1595 patients. IN last years It was possible to establish a population frequency of pathology of 1: 10,000 - 1: 20,000.

Causes of Prader-Willi syndrome:

The authors who first described the syndrome suggested an autosomal recessive mode of inheritance of the disease. Then there were reports about the possibility of autosomal dominant transmission of the disease. These hypotheses could be confirmed by observed family cases of pathology. However, most of the described clinical observations of Prader-Willi syndrome were sporadic.

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

It has now been established that the development of Prader-Willi syndrome is associated with damage to the critical region of chromosome 15 (segment q11.2-q13). It turned out that damage to the same section of chromosome 15 is also observed in another disease - Angelman syndrome, the clinical picture of which is significantly different from Prader-Willi syndrome and is characterized by early (at the age of 6-12 months) slowing of psychomotor development, microcephaly, speech impairment ( in 100% of cases), ataxia, uncontrolled violent laughter, frequent epileptiform seizures, specific facial expression.

Thus, despite damage to the same locus of chromosome 15 in Prader-Willi and Angelman syndromes, clinical manifestations Both diseases are sharply opposed.

An explanation for phenotypic differences has only been obtained in recent years. It turned out that the development of these diseases is associated with new genetic phenomena - genomic imprinting and uniparental disomy.

Genomic imprinting is a new phenomenon discovered thanks to advances in molecular genetics. It means the different expression of genetic material (homologous alleles) on chromosomes depending on paternal or maternal origin, i.e. indicates the influence of parents on the child’s phenotype. Until now, it was believed that the contribution to the manifestation (expression) of the genes of the father and mother is equal.

Essentially, genomic imprinting is a sex- and tissue-dependent complex modifier of the gene activity of some chromosomal loci, depending on their parental origin. Manifestations of genomic imprinting have also been identified in other diseases - Sotos, Beckwith-Wiedemann, Silver-Russell syndromes, cystic fibrosis and others.

Uniparental disomy is the inheritance of both chromosomes from only one parent. For many years it was believed that such inheritance was impossible. Only with the help of molecular genetic markers was it possible to prove the possibility of uniparental disomy. The nature of uniparental disomy has not been fully elucidated, but it has been established that it owes its origin to a number of genetic and biochemical disorders.

It should be noted that it is impossible to detect microdeletion or uniparental disomy using a conventional study of the chromosomal composition of the karyotype. For this purpose, special cytogenetic and molecular genetic methods are used - prometaphase analysis, the use of DNA markers of certain sections of chromosome 15 (study of methylation processes), etc.

Today, Prader-Willi and Angelman syndromes serve as a generally accepted model for studying new and complex phenomena in clinical genetics - genomic imprinting and uniparental disomy.

It has been established that Prader-Willi syndrome can be caused by two main mechanisms. The first of these is a microdeletion of chromosome 15 (15q11.2-q13), which is always of paternal origin. The second is maternal isodisomy, i.e. when both chromosomes 15 are received from the mother. The development of Angelman syndrome, on the contrary, is associated with a microdeletion of the same region of chromosome 15, but of maternal origin, or paternal isodisomy. The majority (about 70%) of cases of Prader-Willi syndrome are caused by microdeletion, the rest by disomy. At the same time, attention is drawn to the absence of clinical differences between patients with microdeletion and isodisomy.

Pathogenesis:

The pathogenesis of Prader-Willi syndrome remains poorly understood to date. It is suggested that in patients this is due to a significant (more than 10 times) increase in fat synthesis from acetate and extremely low lipolysis processes.
of the hypogonadotropic type may be associated with dysfunction of the hypothalamus, mainly in the region of the ventromedial and ventrolateral nuclei. The correctness of this point of view is confirmed by the effectiveness of treating patients with pharmaceuticals (clomiphene), which led to an increase in the plasma content of luteinizing hormone, testosterone, normalization of renal excretion of gonadotropins, spermatogenesis and the appearance of secondary sexual characteristics.

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

Attention is drawn to the increased risk of developing leukemia in patients with Prader-Willi syndrome. Studies have found a decrease in DNA repair (up to 65% compared to 97% in healthy child) in lymphocytes of patients with this pathology. It is possible that low DNA repair ability may play a fatal role in the development malignant neoplasms in persons with Prader-Willi syndrome.

Symptoms of Prader-Willi syndrome:

Children with Prader-Willi syndrome are usually born full-term with slight intrauterine hypotrophy and often in . In 10-40% of cases, breech presentation is observed.

During the disease, two phases can be distinguished: the first is characteristic of children 12-18 months of age. It is characterized by severe muscle hypotonia, decreased reflexes - Moro, sucking and swallowing, which makes feeding the child difficult. The second comes later, after a few weeks or months. A constant feeling of hunger appears, leading to the development of obesity, and fat deposition is observed mainly on the torso and in the proximal limbs.

Muscle hypotension gradually decreases and almost completely disappears by school age. The feet and hands of patients are disproportionately small - acromicria. In children, hypogonadism is observed (in boys - hypoplasia of the penis and scrotum, and in girls - underdevelopment of the labia and, in 50% of cases, the uterus).

The height of patients is often reduced. 75% of children experience hypopigmentation of the skin, hair and iris. Often diagnosed. Psychomotor development lags behind the age norm - intellectual development coefficient - from 20 to 80 units. (at a norm of 85-115 units). Speech is difficult, vocabulary is reduced. Patients are friendly, their mood is characterized by frequent changes. Impaired coordination and strabismus have been described.

There are also other anomalies: microdontia, cartilage hypoplasia ears, ectropion (inversion of the eyelid), .

Prader-Willi syndrome occurs due to abnormalities of chromosome 15 (trisomy 15).

It's rare genetic disease, affecting several systems of the body, causes a disorder of the hypothalamus.

The hypothalamus is responsible for various functions, connecting the nervous and endocrine system. It controls hunger, thirst, body temperature, sleep, behavioral aspects, fatigue, regulates the release of hormones that stimulate the release of other substances responsible for growth.

Main clinical manifestations include hypotonia (lack of muscle tone), poor weight gain, poor reflexes including sucking, and lack of appetite in infancy.

In subsequent years, the affected individual exhibits other clinical features such as overeating, obesity, short stature with small arms and legs, almond-shaped eyes, small mouth, disorder of sexual development, hormonal deficiency, behavioral disorders, learning difficulties affecting the normal functioning of the individual.

The incidence of this rare genetic disorder is 1 in 30,000 live births. It affects men and women equally. Death occurs due to complications associated with obesity.

Early diagnosis of Prader Willi syndrome in children is necessary for interventional treatment to control food intake and increase physical activity. Physical examination, full story diseases, blood tests, DNA tests, neuroimaging studies help identify the disease.

Treatment is symptomatic and supportive. Growth hormone therapy, proper care help people lead normal life, although there is no cure for this disease.

Prader-Willi syndrome must be distinguished from another syndrome due to a problem with chromosome 15.

Called AS, it is a rare genetic neurological disorder characterized by severe developmental delays and visual impairment.

Patients have no speech skills and a complete inability to coordinate movements. They are distinguished by characteristic behavior, a happy disposition, unprovoked episodes of laughter, smiling, often at inappropriate times.

Additional signs: seizures, sleep disturbances, feeding difficulties. Some affected children may have distinctive features faces.

Symptoms and signs

Symptoms of Prader-Willi syndrome include decreased muscle tone, excessive eating leading to obesity, lethargy, short stature, sexual hormonal disorders, behavioral, mental disorders.

Observed in an infant

Poor muscle tone, lethargy, poor reflexes including sucking reflex leading to feeding difficulties, decreased appetite, poor weight gain, decreased movement, weak cry, developmental delay.

Associated with the hypothalamus

Dysfunction of the hypothalamus leads to the following symptoms:

Overeating, obesity. Appears at the age of 1-4 years. The child begins to overeat due to constant feeling hunger. This leads to weight gain and obesity. Obesity leads to other complications such as heart disease, sleep apnea.

Hypogonadism: incomplete development of the genital organs.

Infertility occurs in people as a result of insufficient production of sex hormones.

Developmental delays and cognitive problems: Children demonstrate delays in acquiring motor and language skills.

They have lower IQ, experience cognitive disability, which leads to poor performance in school age.

Short stature: due to decreased secretion of growth hormone in affected people with small arms, legs, short muscle mass.
Behavioral, mental disorders: early childhood in affected individuals is characterized by constant tantrums, stubbornness, and unwanted repetitive thoughts.

The condition is associated with autism, compulsivity, and difficulty coping with change.

Other symptoms

Dysmorphic features: narrow facial diameter, almond-shaped eyes, narrow nasal bridge, thin upper lip. Reduction or absence of pigment in hair, eyes, skin. Often seen with upturned corners of the mouth - some of the facial features are Prader Willi syndrome.
Other endocrine problems: Affected people may have others endocrine diseases, such as hypothyroidism, adrenal insufficiency, diabetes mellitus.
Sleep disturbances occur due to dysfunction of the hypothalamus, which affects the circadian cycle and sleep.

Other symptoms include:

squinting eyes,
myopia,
decreased saliva flow,
changes in temperature perception and regulation,
scoliosis (lateral curvature of the spine),
osteoporosis,
convulsions,
swelling of the legs,
ulceration.

To learn more Professional burnout syndrome

Affected individuals suffer from recurrent respiratory infections due to decreased immunity.

Case example: a woman with Prader-Willi syndrome with small hands: arm length = 16 cm, height = 152 cm

Diagnosis and treatment

Treatment of Prader Willi syndrome involves restoring normal growth and activity to the affected child.

Diagnosis is based on medical history, physical examination, and blood tests. Clinical diagnostic criteria confirm the presence of the disease. Further support comes from molecular genetic testing and neuroimaging studies.

Treatment for Prader Willi syndrome includes:

Treatment of symptoms

Symptoms such as decreased tone, overeating, obesity, and hormonal deficiency should be identified and treated.

Healthy eating, regular counseling, hormone therapy growth are necessary to improve the prognosis of the disease.

Baby food

To compensate for nutritional deficiencies due to poor breastfeeding During the neonatal period, the baby requires milk containing high content calories, regular schedule, feeding assistance. Calorie intake is assessed in terms of increase in height, weight, and head circumference.

Growth hormone therapy:

Hormone replacement therapy with a good diet has been effective. It improves growth, muscle tone, reduces body fat.

Sex hormones

Sex hormone therapy, which includes testosterone for men and estrogen progesterone for women, helps replenish low levels. Reduces the risk of developing osteoporosis.

Diet control

As the child grows, meals should include low-calorie foods to control weight. Enough fat is added to the diet to help brain development. Vitamins and calcium intake should be monitored and given as supplements if needed.

Regular monitoring of weight gain is necessary. Balanced diet, preventing overeating, increasing physical activity help cope with the condition.

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). During embryonic development, a child 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.

Pathogenesis of this disease has not been fully studied, 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 incorrect location baby in the womb.

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 mental and mental retardation. 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%). In 5% of patients - average level 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 of the reproductive system, as well as to the lack of 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. The clinical diagnosis is confirmed by 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 of 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 their parents in matters of adaptation to the children's team and learning.

The life expectancy of people with Prader-Willi syndrome depends on various factors. First of all, it depends on the amount of excess weight. 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.

Prader-Willi syndrome - rare hereditary disease, which occurs in the absence of a paternal copy of chromosome 15 (region q11-13) or with disomy. This disease is different wide range signs, but the main signs include obesity in combination with short stature, reduced intelligence and decreased function of the gonads.

ICD-10	Q87.1
ICD-9	759.81
eMedicine	ped/1880
MeSH	D011218
DiseasesDB	14107
OMIM	176270
MedlinePlus	001605

General information

Prader-Willi syndrome was first mentioned by Langdon Down in 1887 when describing a 14-year-old patient suffering from growth retardation, obesity, decreased mental activity and ovarian function (hypogonadism). Langdom Down called this disease polysartria.

The classic description of the syndrome appeared in 1956 thanks to studies of patients with a similar phenotype conducted by the Swiss Andrea Prader, Guido Fanconi, Heinrich Willi and Alexis Labhart.

Children with Prader-Willi syndrome are constantly monitored, and.

Forecast

The prognosis is determined by the severity of the course diabetes mellitus and the presence of cardiorespiratory complications in severe obesity. In general, the prognosis for life is favorable - patients in most cases live to 60 years or more.

Due to the increased risk of developing leukemia as a result of decreased DNA repair, medical supervision is necessary.

Prevention

Prevention of the disease includes medical and genetic counseling of families in which there is a proband with Prader-Willi syndrome, and a complex of molecular cytogenetic studies.

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Prader-Willi syndrome (PWS) is a fairly rare genetic disorder in which 7 genes on the 15th paternal chromosome are deleted (possibly partially) or do not function normally.

The first to study and describe the symptoms of this disease in 1956 were Andrea Praderi Heinrich Willi. Also involved in research were Alexis Labhart, Andrew Ziegler and Guido Fanconi, who also studied and contributed to this chromosomal disorder.

Prader-Willi syndrome occurs because only the copy of the gene received from the father functions normally. The mother copy contains irregularities. In the body of healthy people there is a copy of genes, thanks to which it can work without deviations from the norm. In Prader-Willi syndrome, such a copy is absent. Currently, there is a disease that is essentially similar to Prader Willi disease. A similar mechanism of occurrence is observed in Angelman syndrome, only in this case the mutation affects the maternal genetic material. These diseases usually manifest themselves in in various forms and have different forms and severity, but both of them are incurable.

Causes of Prader-Willi syndrome

Quite often, a disease such as Prader-Willi syndrome is discussed on the forum. This is a hereditarily determined pathology that manifests itself only with the development of certain anomalies. In other words, with some chromosomal disorders, parental genes are affected, which, in turn, leads to serious diseases. Specifically, the clinical picture develops when seven genes on chromosome fifteen, which were inherited paternally, are missing or not expressed. That is, the hereditary information contained in DNA is not converted into RNA. When diagnosing and preventing it, it is worth remembering that Prader-Willi syndrome can only be caused by the expression of paternal genes.

Scientists who tried to find out the causes of this hereditary pathology initially believed that it was a homozygote for this deviation. They then concluded that the predominant traits are located in the autosomes, so that the main route of transmission of the disease is inheritance. This version was confirmed by the fact that cases of Prader-Willi syndrome were observed in entire families. But most cases of the disease were isolated, occurring without any prerequisites.

Geneticists conducted a cytogenetic analysis of the pathology. With its help, it was established that the fathers of the newborns had a translocation or mosaicism of the fifteenth chromosome. Then they saw a microdeletion of this chromosome. Only with the advent of molecular research methods and genetic testing methods did it finally become possible to diagnose chromosomal abnormalities, the presence of which leads to the occurrence of Prader-Willi syndrome.

An interesting fact is that both patients with microdeletion and idiosomy have a similar clinical picture.

It has now been precisely established that this pathology damages the critical region of the fifteenth chromosome in the segment from q11.2 to q13. The same gene aberration occurs in the case of Angelman syndrome, but this disease manifests itself with completely different symptoms. Such dissonance could only be explained in Lately, when they discovered such a phenomenon in genetics as genomic imprinting and uniparental disomy. Genomic imprinting is a completely new phenomenon discovered by molecular geneticists. He says that changes in phenotype occur depending on whether expression occurs on the paternal or maternal chromosomes.

With uniparental disomy, both chromosomes of only one parent are inherited. In order for such a breakdown to occur, the genetic material must be affected by genetic and biochemical factors. This was established using prometaphase analysis and DNA marking of individual loci of the fifteenth chromosome.

Thus, Prader-Willi syndrome is caused by two mechanisms: microdeletion of the fifteenth chromosome, which is received from the father, and idiosomy of the maternal chromosomes (both of them are received from the mother). With Angelman syndrome, everything happens exactly the opposite: maternal microdeletion and paternal idiosomy. Prader-Willi syndrome is caused by a paternal microdeletion.

An interesting fact is that patients with microdeletion and idiosomy show a similar clinical picture.

Prader-Willi syndrome in children

The mechanisms of disorders that occur in the body of a patient with Prader-Willi syndrome have not yet been fully studied, and much remains open questions. However, patients have a number of disorders characteristic of this disease. They are believed to gain excess weight due to increased fat production and decreased lipolysis. In this disease, there is dysfunction of the hypothalamus, which is mainly noted in its two nuclei - the ventromedial and ventrolateral.

This leads to disruptions in the development of secondary sexual characteristics, that is, to hypogonadism, which develops according to the hypogonadotropic type. Decreased tyronase activity in melanocytes and hair follicles causes the skin, hair, and iris to become hypopigmented.

This syndrome can be detected in the early stages of pregnancy. Ultrasound diagnostics will allow you to notice the incorrect position of the fetus and its low mobility. In addition, the level of the hormone gonadotropin, which is produced by chorion cells, changes significantly in a pregnant woman. Intrauterine signs, in addition to decreased activity of the fetus, also include its abnormal position and polyhydramnios. Based on these signs, it is impossible to make an accurate preliminary diagnosis, but they are sufficient grounds for further diagnosis.

In infants, Prader-Willi syndrome is expressed in the presence of congenital dislocation of the hip (dysplasia), weakened muscle tone, as well as impaired coordination. There are times when a child is not able to suck and swallow independently. breast milk, so that feeding is carried out using a tube. Breathing problems may also occur, which may be so severe that mechanical ventilation may be required.

In addition to all of the above, there are other symptoms of Prader-Willi syndrome. For example, a child may experience increased sleepiness. Concerning external signs, then he has a developmental delay, so such patients are characterized by short stature, as well as small hands and feet. Strabismus often occurs. To make a diagnosis, there are a number of criteria that are divided into major and minor.

Large criteria (each corresponds to 1 point)	Small criteria (each corresponds to 0.5 points)
General hypotension with suppression of the sucking reflex In the neonatal period and infancy, it resolves independently.	Poor fetal motility, infant lethargy, weak cry
Eating disorders in early age, requiring special manipulations and leading to delayed physical development	Hysteria, stubbornness, rigidity, aggressiveness, outbursts of unmotivated anger, obsessive-compulsive disorders
Excessive or rapid weight gain between the ages of one and six years, central obesity	Tendency to steal, pathological dexterity, negativism (more than five signs)
Characteristic facial changes (dolichocephaly, narrow face, almond-shaped eyes, small mouth, thin upper lip, drooping corners of the mouth (more than three signs)	Sleep disturbance or sleep apnea Short stature
General developmental delay, mild mental retardation or medium degree, learning disability	Skin hypopigmentation Small arms and/or legs
Hyperphagia, obsessive eating	Narrow hands
15q deletion or maternal disomy	Speech disturbance, viscous saliva
	Myopia, convergent strabismus

Thanks to these criteria, a diagnosis of Prader-Willi syndrome in newborns is made.

The disease is further characterized by the following symptoms:

curvature of the spinal column (scoliosis);
caries of baby teeth, increased thickness of saliva;
tendency to eat excess food;
hypofunction of the gonads, which subsequently leads to infertility;
high degree of obesity;
late fine motor skills, delayed speech development.
lagging behind peers in psychomotor development;
delayed puberty.

They are determined visually.

During adolescence, children suffering from Prader-Willi syndrome experience the following symptoms:

delayed speech skills;
overweight; short stature;
unnatural flexibility;
decreased intelligence, learning disability.

Combinations of such signs can serve as the basis for making a final diagnosis.

The psychomotor development of children with the above syndrome always lags behind the age-appropriate norm. Their IQ ranges from 20 to 80 units. The norm for their age is 85 – 115 units. These children have difficulty speaking and a significantly reduced vocabulary. However, Frimm and Kurf conducted a comparative analysis of various degrees of mental impairment and the difficulties that arise when teaching people with Prader-Willi syndrome. They obtained the following results: about five percent of patients have an IQ that exceeds 85 units. Their intelligence level is below average. Twenty-seven percent have mild mental retardation, their IQ ranges from 70 to 85. This is the limit of intellectual activity. Thirty-nine percent of the subjects had slight retardation in mental development– The IQ of such patients, as a rule, does not exceed 70. Also, 27% of patients had a slightly more pronounced mental retardation, their IQ was 35-50. And one percent of individuals were diagnosed with severe and profound mental retardation.

According to data obtained by Cassidy, 40% of patients with Prader-Willi syndrome have quite low level intelligence, which is defined as below average or at the limit of intellectual abilities. These are people with a transitional level of intelligence.

Children with Prader-Willi syndrome develop a rather unusual cognitive profile. They often have well-developed visual perception, they can read well and have a good vocabulary, but their speech abilities are lower than their understanding of the meaning of what they want to say. Children with Prawer-Willi syndrome are also poor at processing auditory information and lack the ability to do math and calligraphy. These children have poor visual and auditory short-term memory and auditory attention span. With age, in some cases, an improvement in intellectual abilities has been observed in children who suffer from this disease.

The main mental disorders that occur in patients with Prader-Willi syndrome are manifested by compulsive behavior. It usually appears increased anxiety and tugging at the skin. These psychological problems lead to the fact that such patients have to be forcibly hospitalized in a psychiatric hospital. Videos of patients suffering from Prader-Willi syndrome can be seen on many websites.

In patients, you can visually notice a narrow and high forehead, almond-shaped eyes, a large bridge of the nose and thin lips. They develop infertility due to underdevelopment of the genital organs and obesity, a tendency to hypotension, and increased glucose tolerance. Patients suffering from Prader-Willi syndrome have very thin pubic hair and underdeveloped genitals. However, one patient with this syndrome never has more than five signs of the disease.

Genes must be turned on when required. For example, hair growth begins on time and secondary sexual characteristics appear. If this does not happen, then they talk about Prader-Willi syndrome. According to various researchers, it occurs in one case in ten or fifteen thousand newborn babies. There are many photos of children with Prader-Willi syndrome. Obesity is a leading symptom of many hereditary diseases. Prader-Willi syndrome occupies a leading place among them.

Syndromes characterized by obesity

Syndrome name	The nature of obesity	Clinical features
Albright's osteodystrophy (pseudohypoparathyroidism type 1A)	Moderate	Short stature, reduced intelligence, shortening of the fourth and fifth carpals and metacarpals, hypocalcemia, hyperphosphatemia
Lawrence-Moon-Bardet-Biedl	From the first steps	Reduced intelligence, retinal dystrophy, polydactyly, polycystic kidney disease, hypogonadism, short stature
Fragile X syndrome	Early start	Reduced intelligence, macroorchidism, protruding lower jaw, high-pitched voice
Alström syndrome	Since childhood	Hearing loss, retinal degeneration, diabetes mellitus
Boreson-Forsman-Lehman	Moderate, from 6-7 years	Hypotonia, reduced intelligence, developmental delay, hypogonadism, gynecomastia
Tillian syndrome (Techler-Nicolas)	From the first years	Hypotension, tendency to seizures
Cohen's syndrome	Moderate, from 7-8 years	Microcephaly, hypotonia, retinal dystrophy, protruding anterior teeth
Carpenter syndrome	After 12 years	“Tower” shape of the skull, syndactyly, polydactyly, hypogonadism, reduced intelligence
From the first years of life, polyphagia	Hypotension, reduced intelligence, developmental delay
Down syndrome	Uniform, from 12-14 years	Reduced intelligence, heart defects, hypotension

This hereditary pathology can be suspected even during intrauterine development fetus During an ultrasound of a pregnant woman, the doctor sees excess amniotic fluid, reduced fetal mobility and abnormal positioning. In this case, the woman is recommended to undergo prenatal diagnosis; if necessary, invasive methods can be used.

After the birth of a child, an experienced geneticist can diagnose Prader-Willi syndrome at the first examination of the baby. These children are so similar that the diagnosis is beyond doubt. However, in order to confirm this hereditary disease, it is necessary to undergo genetic testing, with which an accurate diagnosis can be made. The mother can also donate blood for human chorionic gonadotropin levels. The results may be good, which means Prader-Willi syndrome has been ruled out.

Modern geneticists diagnose Prader-Willi syndrome using DNA markers and molecular biological technologies. Thanks to these methods, it is possible to determine both submicroscopic and functional pathology at the DNA level, even in patients who do not have visible chromosome pathology. The diagnosis is made according to clinical criteria such as:

reduction in weight and height at birth in the case of full-term pregnancy;
incorrect position or breech presentation of the fetus;
some microanomalies of development;
severe muscle hypotonia;
decreased pigmentation of the skin, iris and hair;
obesity, which develops by six months;
delayed psychological, speech and motor development.

Children with Prader-Willi syndrome often hide food, constantly demand food, and do not move much. Due to excessive weight gain, they experience such a serious complication as sleep apnea. They can die in their sleep.

Genetic screening - photo

Treatment of Prader-Willi syndrome

Doesn't exist to date specific treatment Prader-Willi syndrome in children. If a newborn has breathing problems, he is placed on a ventilator. If he has problems swallowing, he is given gastric tube, through which enteral nutrition is administered. In case of decreased muscle tone, patients with Prader-Willi syndrome are advised to undergo massage and physiotherapy procedures.

Children with Prader-Willi syndrome are given recombinant growth hormone (GH) daily. It maintains a constant increase in muscle mass and may reduce the patient's appetite. Human chorionic gonadotropin is also replaced. With this syndrome, hypogonadism is observed, which means insufficiency of the gonads and disruption of the reproductive system as a whole. In this case, carry out replacement therapy hormones, which allows you to stimulate growth and achieve timely puberty. If a child has undescended testicles, he is first monitored by a pediatric andrologist, and if necessary, the testicles are brought down surgically against the background of hormonal treatment.

Sometimes a familiar psychiatrist may be needed for patients with Prader-Willi syndrome. Children with speech and psychological development delays will need psychological help. Of course, you need to control the amount of food your child consumes. These babies can absorb incredible amounts. food products, which leads to severe obesity. If excess weight has already been gained, children with Prader-Willi syndrome are prescribed diet therapy under the supervision of a nutritionist.

Parents should understand the characteristics of their child and in every possible way prevent overeating. IN preschool age the ban on eating should not be very strict, since a child with Prader-Willi syndrome must receive the right amount of proteins, vitamins and minerals. However, nutrition must be balanced. A younger schoolchildren a hypocaloric balanced diet should be provided, not exceeding a thousand calories per day. It should include enough calcium and vitamins.

Access to products should be limited; the food cupboard and refrigerator should be locked. Children should be provided with maximum physical activity; they should not sit in front of a TV screen or computer monitor. Engage in active sports, stay as much as possible fresh air– the key to weight normalization. The risk of having a second child with Prader-Willi syndrome is very high. Parents should definitely attend a medical genetic consultation, where specialists will conduct a comprehensive examination and calculate the risks.

Children with Prader-Willi syndrome require regular monitoring by endocrinologists and neurologists.

Improvement of general condition in Prader-Willi syndrome

Among people suffering from Prader-Willi syndrome, rates of somatic morbidity increase significantly, and communication is difficult. They have a need for specific medical care, which is determined by the characteristics of their underlying disease. They often do not understand why they need to take care of their health, and do not receive adequate medical care when suffering from severe somatic pathology. There is a large disparity in their health status and that of the rest of the population.

An adequate goal for all people is good health. It should also be a motivation for patients with Prader-Willi syndrome. Such people have impaired learning ability. Their needs are constantly changing, but they require virtually the same medical care. Their health status is influenced to a much greater extent than healthy people by both social and environmental factors. Eliminating such inequalities in the physical health of patients with learning disabilities and the rest of the country's population is urgently needed. If the state of somatic health is satisfactory and a person feels well, then both the quality of life and that of his family members improves.

It can be assumed that the somatic health status of people who have a reduced ability to learn, including those suffering from Prader-Willi syndrome, can be improved if we turn to those areas in which there are significant inequalities both in health and in the provision of somatic medical care. help is beyond doubt. The following factors need to be eliminated:

risk of increased mortality;
likelihood of increased morbidity;
increasing the number of factors that determine health (material well-being);
unequal access to health services;
inequalities in health care.

They can only be eliminated together.

Areas of influence on the quality of life of patients Let's talk about those areas that, by changing them, can improve the health status of patients with Prader-Willi syndrome. First and foremost is health inequality.

The concept of inequality in the somatic and mental health of persons suffering from Prader-Willi syndrome is of great importance. It increases public attention to the planning of various services. But at the same time, this concept creates a number of difficulties. This occurs when we attempt to take into account how the causes of an individual's disability contribute to any particular inequality. For example, this happens when trying to find out how the reduction in life expectancy affects patients with profound learning disabilities. To solve this particular problem, it is necessary to compare individuals within those groups in which participants have exactly the same degree of impairment.

What are the health features of people suffering from Prader-Willi syndrome? This question can be answered by examining the results of a study of such patients in Wales using a special questionnaire. The researchers obtained the following results:

they get sick much more often than the rest of the population;
these people often have low visual acuity;
they are often forced to contact the family doctor;
The vast majority of such patients are overweight or severely obese.

These studies are extremely important to improve the quality of life of these patients.

Patients with Prader-Willi syndrome have both general and specific needs that are relevant to their underlying condition. They need treatment for acute or chronic diseases, assistance in promoting health, as well as adequate referral to the hospital. Their needs must be met first and foremost in institutions providing primary medical care. Specialized care may include the following: treatment of the underlying pathology and somatic diseases that are associated with the underlying disease.

Some syndromes that cause learning disabilities are associated with an increased risk of specific diseases. For example, with Down syndrome there is increased risk development of pathology of the cardiovascular system, organ of vision, leukemia, hypothyroidism. People with fragile X syndrome were significantly more likely to be diagnosed with the disease connective tissue. Particularly severe satiety control disorders occur in patients with Prader-Willi syndrome. They are associated with a risk of developing obesity. This disease leads to a decrease in the life expectancy of patients up to the age of sixty. But in general, the prognosis for the recovery of such patients is disappointing.

questions arose regarding the results of prenatal diagnostics;
poor screening results

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