Prader-Willi syndrome: causes of development, manifestations, diagnosis, how to treat, prognosis

Prader's Syndrome - Willy
ICD-10Q 87.1 87.1
ICD-9759.81 759.81
eMedicineped / 1880

Pradera syndrome - Villi - A rare hereditary disease caused by the absence of a paternal copy of the chromosome 15q11-13. In this region of chromosome 15, there are genes that are regulated by genomic imprinting. Most cases are sporadic, non-Mendelian inheritance is characteristic of the rare described family cases. The frequency of occurrence is 1: 12,000–15,000 live-born babies.

The most common cause of the syndrome (70-75% of cases) is the deletion of the site 15q11-13 chromosome 15 inherited from the father. About a quarter of cases are due to homogeneous disomy of the chromosome 15 upd (15) matwhen both the 15th chromosomes in a patient are copies of maternal origin. In a small number of cases, the syndrome is associated with imprinting impairment or with the presence of a balanced translocation with a break point within the 15q11-13 area.

The syndrome was first described in 1956 by scientists from Switzerland A. Prader (A. Prader), H. Willie (H. willi) and A. Labhart (A. Labhart) .


For Prader's syndrome - Willi is characterized by:

  • before birth - low mobility of the fetus, often - the wrong position of the fetus,
  • dysplasia of the hip joints,
  • obesity, a tendency to overeating (most often manifested by two years),
  • decreased muscle tone (hypotonia), reduced coordination of movements,
  • small hands and feet, short stature,
  • increased drowsiness,
  • strabismus (strabismus),
  • scoliosis (curvature of the spine),
  • reduced bone density
  • thick saliva, bad teeth,
  • reduced function of the sex glands (hypogonadism) and as a result, as a rule, infertility,
  • speech delay, mental retardation, lag in mastering general and fine motor skills.
  • later puberty.

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

As a rule, the patient has no more than five of the above symptoms.

Diagnostics What is Pradera-Willie syndrome?

Prader's Syndrome - Willy (SPV) is a genetic disease that occurs in about one out of every 15,000 newborns.

Prader-Willi syndrome affects men and women with equal frequency and affects all races and ethnic groups. PWV is recognized as the most common genetic cause of life-threatening childhood obesity.

This syndrome was first described by the Swiss doctors Andrea Prader, Alexis Labhart and Heinrich Willi in 1956 on the basis of the clinical characteristics of the nine children examined.

General characteristics defined in the initial report included small arms and legs, abnormal growth and body composition (small height, very low muscle mass and early childhood obesity), muscle hypotonia (low muscle tone (muscle weakness)) at birth, insatiable hunger , severe obesity and mental retardation.

This video will give a brief understanding of the manifestations of the disease:

Prader-Willi syndrome is the result of an abnormality of chromosome 15, and making an accurate diagnosis today is based on genetic analyzes.

What are the symptoms of Prader-Willi syndrome?

The symptoms of Prader-Willi syndrome are probably associated with dysfunction of a part of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays an important role in many functions of the body, including regulating hunger and satiety, body temperature, pain, balance of sleep and wakefulness, water balance, emotions and fertility.

Although it is believed that hypothalamic dysfunction leads to the appearance of Prader-Willi syndrome, it is not yet clear how a genetic abnormality causes hypothalamic dysfunction.

In people with this syndrome, the symptoms change over time. In general, there are two main stages of symptoms associated with SPV:

Early life

Infants with PWV are hypotonic or “flexible”, with very low muscle tone. Typical for them weak cry and bad sucking reflex. Children with Prader's syndrome - Willie usually cannot breastfeed and they often need artificial feeding.

Children may have problems with growth and developmentif feeding difficulties are not carefully monitored and treated. As these children get older, strength and muscle tone generally improve. Motor functions are developed, but, as a rule, they are performed with a delay.

Toddlers tend to enter a period when they can easily start gaining weight before they show increased interest in food.

Childhood and growing up

Unregulated appetite and lung weight gain (see photo) describe the later stages of Prader-Willi syndrome.

These symptoms most often begin at the age of 3 to 8 years, but differ in their onset and intensity.

People with Prader's syndrome - Willia lack the normal tips of hunger and satiety.

As a rule, they cannot control food intake and overeat if they are not controlled.

Behavior in hunger is very common. In addition, the metabolic rate in people with this syndrome is lower than usual. Without treatment, this combination of problems leads to morbid obesity and its many complications.

In addition to obesity, a child with Prader-Willie syndrome may have many other symptoms. Children with low normal to moderate mental retardation usually have cognitive problems. Those with a normal IQ usually have learning problems.

Other problems and symptoms may include:

  • growth hormone deficiency / low growth,
  • small arms and legs
  • scoliosis,
  • sleep disturbances with excessive daytime sleepiness,
  • high pain threshold
  • speech apraxia / dyspraxia and sterility.

Behavioral difficulties may include obsessive-compulsive symptoms, skin problems, and difficulty controlling emotions. Adults with Prader's Syndrome— Willy is at an increased risk of mental illness. SST is a broad spectrum disorder, and symptoms vary in severity and frequency of occurrence among people.

Chromosomes and genes: the basics

To understand the genetics of the PWV, it is necessary to have a general understanding of chromosomes and genes.

Chromosomes are tiny structures that are present in almost every cell of our body. These are packages of genes that we inherit from our parents. Genes contain all the detailed instructions our body needs for growth, development and functioning - our DNA.

Certain genes direct our cells to produce proteins, enzymes and other essential substances. Each of our many genes is on a specific chromosome. Most cells of our body contain 46 chromosomes - 23 inherited from our mother and 23 from our father. (Eggs and spermatozoa usually contain only 23 chromosomes, because these cells unite in conception and provide the child with the necessary number of chromosomes.)

22 pairs of chromosomes are labeled with a number based on their size (chromosome 1 is the largest pair, and chromosome 22 is almost the smallest), and 2 chromosomes in each numbered pair contain the same genes (one set from the mother and one from the father). The changes that cause Prader-Willi syndrome occur in a pair, known as chromosome 15. The 23rd pair of chromosomes is designated as a pair of sex chromosomes. This pair determines the sex of the child: XX for a girl, XY for a boy.

Changes or errors in the genes and chromosomes are common during the formation of eggs and spermatozoa. Some of these genetic changes will have no effect when the child is conceived, some will cause a miscarriage, and some will provoke, for example, Prader-Willi syndrome, causing significant differences in how the child develops and functions.

While many genetic abnormalities are caused by a change in a single gene and can be passed from parent to child, PWV is much more complex.

What causes Prader-Willie syndrome (causes)?

Prader-Willi syndrome occurs as a result of the absence of active genetic material in a specific area of ​​chromosome 15 (15q11-q13). Usually, people inherit one copy of chromosome 15 from their mother and one from their father. The genes causing SPV are active only in the chromosome obtained from the father.

In Prader-Willi syndrome, a genetic defect that causes the inactivity of chromosome 15 from the father (paternal chromosome 15) can occur for three reasons:

  1. SPV on exclusion: most often, part of chromosome 15, which was inherited from the father, is missing or removed in this critical area. This small deletion occurs in approximately 70% of cases and is usually not detected in a routine genetic analysis, such as amniocentesis.
  2. SPV on homogeneous disomy: about 30% more cases occur when a person inherits two chromosomes 15 from his mother and none from his father. This type of inheritance is called homogeneous disomy (UPD).
  3. SPV on impression mutations: Finally, in a very small percentage of cases (1-3%), a small genetic mutation in the Prader-Willie syndrome leads to the fact that the genetic material of the paternal chromosome 15, although present, is inactive.

How do these genetic defects cause the symptoms observed in Prader-Willi syndrome?

Chromosomes 15 are one of the most complex regions of the human genome. Although significant advances have been made in understanding and characterizing genetic changes associated with Prader-Willi syndrome, the exact mechanism by which the absence of functional genetic material leads to symptoms associated with PWV is not clear.

Scientists are actively studying the normal role of genetic sequences in the field of PWV and how their loss affects the hypothalamus and other body systems.

Are there differences in the severity of PW depending on the genetic subtype?

There may be some subtle differences in the signs of SST based on a genetic subtype: for example, individuals with deletions may have fair skin with fair hair compared to other family members and be more susceptible to seizures and convulsions, and those who have problems with homologous SPV disomy, may be at higher risk for mental illness in young adolescence.

In general, however, there is a significant overlap between different genetic subtypes. It is likely that thousands of genes outside the field of PWV, which demonstrate normal differences between individuals, also contribute significantly to the variability of the symptoms of Prader-Willi syndrome between those who have a disorder.

How is SPV diagnosed?

This syndrome is diagnosed using a blood test that detects genetic abnormalities specific to Prader's syndrome - Willie - the so-called "DNA methylation analysis". The FISH method (fluorescent in-situ hybridization) identifies the syndrome by deletion, but does not diagnose other forms of PWV.

The DNA methylation assay identifies all types of this syndrome and is the preferred method of investigation for diagnosis. If the methylation analysis is carried out first, additional research may be required to determine if the SST is caused by a paternal deletion, UPD, or imprint mutation.

In cases where there is a suspicion of an imprinting mutation, blood can also be taken from the parents.

What are the risks of Prader-Willie syndrome in the future?

Exclusion SST and UPD are random events and, as a rule, are not associated with an increased risk of recurrence in future pregnancies. In the case of imprinting mutations, Prader’s syndrome — Willie may be repeated in the family. Families with concerns about their risk of PWV should speak with a genetic counselor.

Is there a cure for Prader-Willie syndrome?

Currently, there is no cure for Prader-Willi syndrome, and most studies to date have focused on the treatment of certain symptoms of this syndrome.

For many people affected by this disorder, eliminating some of the most difficult aspects of the syndrome, such as insatiable appetite and obesity, will represent a significant improvement in the quality of life and the ability to live independently.

Causes of the syndrome

The disease develops due to a disruption in the normal operation of the q11-13 section of a 15 pair of chromosomes. SST can occur due to the defeat of only the paternal chromosome.

The causes of the disease include:

  • Loss of the plot q11—13 father gametes. It occurs in about 70% of people.
  • The lack of a copy of the 15th chromosome of the father and the disromy of the chromosome of the mother. It is observed in 20% of cases.
  • In 5% of cases, deactivation occurs in the fetus due to methylation of the paternal chromosome at q11-13.

It is considered that the SST is a single sporadic. But some scientists still attribute the dangerous syndrome to an autosomal dominant disorder.

Due to the fact that in Prader-Willi syndrome, the paternal chromosome is affected and all its work is disturbed, there is an increased deposition in the subcutaneous fatty tissue. The exchange of sex hormones is also hampered, which means that the healthy functioning of the genital organs becomes impossible, various anomalies in the structure of the reproductive organs appear.

Patients with PWV are predisposed to the formation of malignant tumors due to genetically incorporated weak DNA protection.

Symptoms of Prader-Willi Syndrome

The presence of a violation can be detected already in early pregnancy. The fetus is not only inactive, but is also incorrectly located, its asphyxiation or hypotrophy is possible. Sometimes polyhydramnios occurs. Also, the level of gonadotropin changes in a pregnant woman. Children are often born premature, they are prone to buttock presentation. Based on these indicators, specialists should conduct additional diagnostics.

In infancy with Prader-Willi syndrome, the child has weakened muscle tone, coordination of movement is disturbed, and a dislocation of the hip is often found. Sometimes the baby does not have a sucking and swallowing reflex, so nutrition is only possible through a probe. In rare cases, breathing is impaired, artificial lung ventilation becomes necessary.

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

Already in infancy, dysmorphia of the skull and acromicry of the arms and legs become noticeable, which manifests itself:

  1. Cross-eyed
  2. Almond-shaped eyes,
  3. Big nose,
  4. The elongated shape of the skull,
  5. Small mouth or narrow upper lip,
  6. Violation of the pigmentation of the iris of the eyes, skin and hair,
  7. Low ear placement.

With the development of the disease in humans are observed:

  • Diseases of the spine: scoliosis and osteochondrosis,
  • Increased appetite, and, therefore, overweight,
  • Diseases of the oral cavity: caries, gingivitis,
  • Mental retardation
  • Ataxia,
  • Muscle spasms
  • Late reproductive maturation.

limb changes with SPV

Already in adolescence, children with the Prader-Willi symptom are not like their peers. For patients characterized by:

  1. Low height and overweight,
  2. Lag in speech development,
  3. Excessive flexibility
  4. Inability to learn.

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

Mental status in patients is usually unstable. Regular outbursts of aggression, anger and hysteria are replaced by friendliness. For such children, neurosis of obsessive states, hallucinations, depression is characteristic, sometimes dermatilomania - skin ripping on the body.

Patients suffer from a malfunction of the hypothalamus. As a consequence, there is underdevelopment of the ovaries and testes, and, consequently, hormone production is disturbed. It also leads to insufficient pigmentation of the skin, eyes and hair. The child has an infinite feeling of hunger, obesity begins. The deposition of fat occurs usually in the thighs and abdomen.

SPV diagnostics

Diagnosis of the disease in its initial stages helps prevent the development of some of its symptoms:

  • The therapy, started at an early stage, produces the right eating behavior in a child,
  • If before the 18th month of life, specialists began to adjust the ratio of growth hormones, the body of the baby will develop correctly, like in a healthy person.

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

Large signs equal to one point:

  • Periodic difficulties with feeding the newborn,
  • Delay in cognitive development to 5-6 years,
  • Special features: almond-shaped eyes, small mouth, narrow upper lip,
  • Muscle hypotension, revealed at the age of 1 to 3 years,
  • Changes in the structure of the reproductive organs,
  • The development of obesity.

Small signs (0.5 points):

  • Insufficient fetal activity,
  • Refractive error,
  • Skin lesions,
  • Reduced pigmentation of the iris of the eye, hair and skin,
  • Thick saliva
  • Short stature,
  • Disproportionate limbs
  • Trouble sleeping
  • Mental behavioral abnormalities
  • Articulation Disruption.

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

Often the pathology becomes noticeable already during the ultrasound examination of pregnancy. The specialist notes an increase in amniotic fluid, fetal hypoxia or its non-standard location. At the slightest suspicion of a violation, the expectant mother will have to undergo perinatal diagnosis, including genetic testing and a blood test for gonadotropin level. Also, to determine the syndrome, it is necessary to apply special molecular genetic markers.

Children with PWD do not move much, often steal food, hide food and, even despite the recent snack, are constantly hungry. In this case, there is a threat of apnea - respiratory arrest in a dream, which is potentially fatal.

SPV treatment

Unfortunately, even in the 21st century, the disease does not respond to therapy. Specialists can only facilitate the patient's progress of the disease. For example, if a baby has trouble breathing, doctors will transfer it to artificial respiration. In case of violation of swallowing - the patient is prescribed enteral nutrition through a special probe. With reduced muscle tone, a therapeutic massage or physiotherapy is necessary.

In rare cases, a psychiatrist is needed. Psychological assistance is especially needed for children with a lag of psycho-emotional development and speech.

Chorionic gonadotropin should also be replaced regularly. In order to stimulate timely sexual development, you need to take hormone preparations, and boys also need to lower testicles.

Children with this syndrome should regularly enter somatotropin. It will relieve a person from the constant feeling of hunger, and therefore prevent the emergence of obesity and help increase muscle gain. But in any case, parents must follow the appetite of a child, and sometimes a nutritionist.

Adults surrounding a child need to understand that their health is directly dependent on nutrition. And if even at preschool age you can practically not limit the diet of the child, then already at the junior school age - it is necessary to ensure a low-fat diet, whose caloric content should not exceed daily expenses. During the period of active treatment with obesity detected - up to 1000 kcal.

It is advisable to hide all food from the child, or close the refrigerator to the lock. Children with Prader-Willi syndrome should move a lot, engage in various sports and go for evening walks as often as possible. They need to be registered with a neurologist and an endocrinologist.

Needs of people with SPV

Anyone sooner or later needs to provide medical care, treat various diseases and strengthen their immunity and overall health. Patients with Prader-Willi syndrome are no exception. But often patients meet with the following barriers to health:

  1. Difficulties in communication and understanding with others,
  2. Lack of mobility due to obesity,
  3. Mental disorders,
  4. Low public knowledge of the disease,
  5. Lack of special schools for children with SPV.


The Prader-Willi syndrome itself is usually not life-threatening. Timely therapy helps people live to at least 60 years old. But if there is no treatment or is prescribed incorrectly, the following complications may appear:

  • Heart failure,
  • Diabetes,
  • Spinal diseases
  • Malignant tumors, incl. leukemia,
  • Diseases of the respiratory and nervous system, (respiratory arrest during sleep is especially dangerous),
  • Destruction of cartilage due to overweight.


Prevent congenital disease is impossible, the main thing in this case - to prevent the occurrence of complications. Treatment of the syndrome should begin as early as possible, then it will be easier for the child to adapt to schooling and life in society.

The prevention of the disease includes medical and genetic counseling for families with a predisposition to the occurrence of the syndrome. Future parents need to conduct a prenatal genetic study that will help determine the structural features of the chromosomes of the fetus.

In order to improve the life of a child with SPV, it is necessary to ensure the continued cooperation of medical specialists, parents and the baby.

Most often, the prognosis is directly determined by the presence of diseases of the heart, respiratory organs, kidneys and the state of the endocrine system. According to the established statistics, the life expectancy of people with Prader-Willi syndrome, who did not conduct active treatment, is about 30 years. But there are also many cases where people have lived for 50-60 years. The main thing is to be registered with a doctor, follow his instructions, and regularly undergo all the necessary research.

Prader-Willi Syndrome

The disease is named after the researchers who first described the symptom complex. Swiss pediatricians Andrea Prader and Heinrich Willie isolated from the mass of young patients a group of children with similar developmental disorders and described it in the middle of the last century as a separate disease.

Later it was revealed that the absence or disruption of 7 genes (segment 11.2-q13) on chromosome No. 15 leads to the occurrence of this syndrome, and due to the difference in symptoms in the absence or partial violation, the severity of the disease can vary significantly - from severe cases diagnosed at birth, to erased forms.

The original cause of disturbances in the genome is not clear, but this pathology is always inherited along the male line with the presence of a corresponding genetic ideosomy in matter, and is transmitted from father to children, although healthy copies of genes can lead to hidden inheritance, and babies with such a disease are born people without the syndrome.

Genetic predisposition is an additional factor that increases the age of diagnosis in children before the pre-school (and even later) examination: external manifestations of Prader-Willi syndrome, which are rather uncharacteristic for any other family, with obvious genetic inheritance look very logical: the child is just like dad, and appearance, and appetite, and character.

Prader-Willi syndrome is a rare developmental pathology, but it is dangerous not only for its manifestations, but also for uncertainty. The characteristic appearance of children, behavioral disorders, developmental delays can be accompanied not only by many other diseases, but also be inherited from parents. With such a picture, it is clear that an appeal to specialists may be delayed for the entire pre-school period, and sometimes the children are left without a correct diagnosis and necessary treatment, simply because they are very similar to the father, and this is considered normal.

In my practice, there was a boy, Volodya, who was brought to a development center at the age of 8 with the “prepare for school” installation. In spring, the child did not pass the pre-school testing due to the inconsistency of the level of development (memory, attention, thought processes) to the requirements of the general educational institution, but the parents thought that it was all the fault that Vova did not attend kindergarten, but spent time mostly with an old grandmother in the village . She also “fattened” him with goat's milk, the boy had enough excess weight.

Volodya really "failed" development tests by age, had a good appetite, excellent visual memory and a penchant for games in Lego-constructors, sometimes stubbornly and "exploded." In general, it corresponded to the level of a five year old child. For quite a long time, about three months after the start of classes, our specialists also considered the cause of the boy’s problems to be socio-pedagogical neglect. But as time went on, the letters were not remembered, and then dad came to take Volodya with even more pronounced external symptoms: short stature, fullness, pronounced bridge of the nose, almond-shaped eyes, acromicry, etc. The picture began to clear up from that moment on.

After lengthy negotiations with mom and persuasion of Pope, Vova finally got a consultation from a geneticist and was sent to a special type of school. It became clear that the secondary school is not yet ready to teach the child, there is no correction class, and at the moment there is no sense to throw out money for studying the primer in a private center, speech pathologists, an endocrinologist, a special diet and a lot of work are needed to catch up and prevent co-morbidities.

Intellect suffering in patients with Prader-Willi syndrome, in the case of family inheritance of the disease complicates the correction. Often the father does not want to accept that he himself is sick and the child needs treatment. Frequent mood swings, increased rigidity, aggressiveness, which are also symptoms of the disease, lead to the need for long preliminary work with family members before starting on-line activities with children. Couples also need genetic counseling before conceiving the following children.

Manifestations of genetic pathology in children

The likelihood of developing pathology can be suspected even in the process of carrying. The need for counseling and testing in genetics may be indicated by reduced fetal activity, its abnormal position in the uterus, high water levels, as well as inappropriate levels of human chorionic gonadotropin in a pregnant woman.

Children are born on time, with symptoms of minor intrauterine asphyxia, on average, every third child is born with a breech presentation. In boys, underdevelopment of the penis, scrotum, and phenomena of cryptorchism are often noted. In girls, the underdevelopment of the external genital organs or the entire reproductive system.

The first years of life are characterized by a lag in psychomotor development. Muscular dystonia of varying severity leads to a delay in the emergence of skills to hold the head, sit, crawl, and can be expressed by impaired sucking, swallowing reflexes, in severe cases, children have to be fed through a probe and connected to a ventilator.

The phenomena of dystonia pass on average by 7-8 years. But children do not differ in high motor activity, which is promoted by another factor: obesity.

In the period of 2-4 years, babies develop a constant feeling of hunger and there is no signal of saturation, which leads to the rapid formation of excess weight, which is deposited mainly on the body and proximal areas of the extremities. Obesity can reach severe stages and threaten to stop breathing in sleep (sleep apnea).

Frequent external manifestations also include short stature, dolichocephaly (elongated skull shape), almond-shaped eyes, myopia, myopia, low ears compared to the norm, pronounced nose bridge, thin upper lip, acromicry (disproportionate development of the feet and hands that look too small compared to the body).

Previously it was believed that Prader-Willi syndrome necessarily causes significant mental retardation and the IQ in adults ranges from 20 to 85, accompanied by idiocy.

In accordance with the research of specialists, it has been established that, depending on the severity of symptoms and remedial work, only 40% of patients differ in below-average intelligence.

Scientists working with adolescents revealed even more comforting figures: IQ can be above 85 points (90-115 is considered normal) in 5% of patients, in 27% of the IQ control group it is from 70 to 85 points, which corresponds to unexpressed mental retardation, 39 % of children differed by a factor of 50-70 points (slight mental retardation), 27% had a pronounced form, and only 1% met the criteria of deep mental retardation.

Children with this syndrome are characterized by non-standard development of cognitive abilities: having developed skills of visual perception, reading, they rarely can fully express their thoughts or retell the meaning of what they read because of underdeveloped speech, that is, understanding exceeds expression.

The perception of information by ear, logical thinking, fine and large motor skills, and visual memory suffers. However, experts say that by using strengths and correcting weak ones, it is possible to achieve a significant improvement in all thought processes.

Treatment, correction and complications of the disease

There is no specific therapy to change the genome or eliminate the effects of chromosomal abnormalities. Therefore, when working with young patients, specialists choose symptomatic, corrective direction and prevention of complications.

To reduce the severity of endocrine disorders requires a strict diet (for preschool children less limited, but well balanced, for older children with a caloric content of not more than 1000 kcal per day), diet, control, up to locking products in separate cabinets. Prescribed hormone therapy, injections of recombinant growth hormone and stimulation of sexual development in case of disorders of sexual development.

Endocrinologist is necessary for children with the symptom Prader-Willi and because of the likelihood of developing diabetes due to a decrease in glucose tolerance.

The second important specialist is a neurologist, who determines the pace of development and causes of deviations and recommends classes with a speech therapist and a psychologist. A child with such a diagnosis can speak poorly for two reasons: the lack of mental development and the underdevelopment of the muscles of the speech apparatus. Speech therapist will help determine the root cause, guide the development of speech, enrich the passive, active vocabulary and teach the techniques of speech therapy exercises and massage. A psychologist helps to stimulate psychomotor development, develop thinking.

By the adolescent period, it may be necessary to observe a psychiatrist: children with Prader-Willi syndrome often suffer from obsessive-compulsive disorder, can show self-aggression, and are characterized by high anxiety.

Narrow specialists, which should not be forgotten:

  • the dentist, due to the viscosity of saliva, there is an early occurrence of caries,
  • oculist, often the syndrome is accompanied by myopia and strabismus,
  • orthopedist: muscle hypotonia causes orthopedic disorders, scoliosis,
  • Andrologist and gynecologist: Prader-Willi syndrome may be accompanied by disorders of the development of the sexual organs.

It must be remembered that, due to their peculiarities, both children and adults with Prader-Willi syndrome may have difficulty in determining their well-being, fail to verbally express their thoughts, feelings, and not turn to parents in time or seek medical help, because of what the percentage of chronic somatic diseases in this group is catastrophically high.

It is necessary to monitor the health of a child with this diagnosis from early infancy, while teaching to pay attention to signs of diseases, report them, understand when and what kind of help is needed. With incomplete disruption of the work of genes and the course of correction, children with Prader-Willi syndrome grow into adults capable of independent living, work, education of the family and raising their own healthy children, provided that they are timely consulted by the geneticist.

Signs of Prader-Willi Syndrome

Some signs of Prader-Willi syndrome can be found even at the stage of pregnancy. First of all, it is the low mobility of the fetus and its incorrect position. Already after birth, muscular hypotension is expressed, which persists throughout the first year of the baby’s life. In addition, children with the syndrome manifest a decrease in swallowing and sucking reflexes, which complicates the feeding process. They also have impaired motor function development due to muscular hypotonia, therefore, it is difficult for sick children to sit, hold their heads, etc. However, it is important to note that hypotension diminishes and by the age of 6-7 years almost disappears.

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

Other typical symptoms of the disease are:

  • Reduced growth
  • Long head shape
  • Almond-shaped eyes,
  • Wide nose,
  • Thin upper lip and small mouth,
  • Low located ears,
  • Akromicriya (disproportionately small hands and feet),
  • Weak pigmentation of the skin, iris and hair, which is observed in 75% of cases of the disease,
  • Dysplasia of the hip joints,
  • Rachiocampsis,
  • Low bone density
  • Increased sleepiness
  • Strabismus (strabismus),
  • Thick saliva and problems with teeth
  • Late puberty.

Already at birth, Prader-Willi syndrome in children is manifested in a violation of the development of the genital organs. In boys with this disease, underdevelopment of the penis and scrotum is observed, and the level of testosterone is sharply reduced, in girls, underdevelopment of the labia and often the uterus. In the future, the disease leads to the absence or delay of puberty and infertility.

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

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

Diagnosis of Prader-Willi Syndrome

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

Genetic testing is performed by DNA methylation to determine if abnormalities are present on chromosome 15, leading to the occurrence of the disease. This method of diagnosis of Prader-Willi syndrome helps to identify 97% of cases of the disease.

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

Prader-Willi Syndrome Treatment

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

Treatment for Prader-Willi syndrome also includes diets with reduced fats and carbohydrates. To avoid obesity, you must constantly monitor the quality and caloric intake of food. In addition, when treatment is often recommended the use of hormone therapy with gonadotropins, which can increase the growth of a sick child and restore muscle tone. This contributes to the proper distribution of calories in the body, preventing obesity.

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

Watch the video: Prader-Willi Syndrome Explained by Mayo Clinic (January 2020).