Prader-Willi syndrome is a rare genetic problem characterized by the loss of the paternal chromosome 15. Such a defect is accompanied by the development of signs of hypogonadism, obesity and mental retardation. The first symptoms of the disease appear in infancy, often worsening as the child grows and develops. Diagnosis of the pathology is based on assessing the function of the endocrine system in combination with specific signs of the disorder. Treatment is symptomatic and is aimed at reducing the intensity of the disease, as well as preventing complications.
General information about Willi-Prader syndrome
The first mention of pathology dates back to 1887. Langdon Down described a teenage girl who was delayed physical development, hypogonadism and obesity. Initially, the disease was called “polysarcia.” The syndrome was fully characterized by the Swiss doctors Prader, Willi and Labhart in 1956. Later, during an in-depth study, doctors determined the exact location of the genetic mutation that led to the onset of the disease in children. They also linked the changes to Angelman syndrome. Both disorders are caused by a defect in the structure of chromosome 15. Moreover, in one case the anomaly is formed in the maternal copy, and in the other – in the paternal copy. The pathology was named Willi-Prader syndrome in honor of the doctors who made the greatest contribution to its study. The disease is considered rare, as its prevalence ranges from one case per 10–25 thousand newborns. No gender or racial predisposition has been established.
Forms and signs of the disease
In genetics, it is customary to differentiate several karyotype defects leading to the development of Prader-Willi syndrome. They determine the intensity of the symptoms of the disease. The following forms are distinguished:
- The most common phenotype is one in which the paternal copy of the chromosome is lost during cell division. It is diagnosed in 70% of patients and is associated with classic signs of damage, including hypofunction of the gonads, obesity and mental retardation.
- In four patients, the karyotype is formed due to uniparental maternal disomy. This means that during intrauterine development the fetus receives chromosome 15 only from the woman, and male genetic information is lost. This phenotype is associated with a mild course of the disorder. The child has more developed intellectual abilities and is also less stunted.
- The rarest variant of the defect is the result of translocation of chromosome sections, combined with a disruption of the imprinting process during cell division. This anomaly is associated with maximum intensity clinical manifestations. At the same time, children also have a significantly increased risk of developing dangerous complications including heart defects.
Symptoms of Prader-Willi syndrome are recorded during pregnancy. Indirect signs of the development of pathology are considered to be low activity of the fetus and its incorrect location. Polyhydramnios and changes in the level of gonadotropin in the expectant mother are also noted. Further manifestations of the syndrome depend on the age of the patient.
In children
Already in the first months after birth, the disease makes itself felt. Children suffer from severe muscle hypotonia; hip dislocation is often diagnosed due to congenital dysplasia of the joint. In children with Prader-Willi syndrome, a decrease in the sucking and swallowing reflex is also noted, up to their complete absence. Within a few months the ability to drink breast milk may recover spontaneously. Patients with the disease have various deformities of the face and limbs, including microcephaly, underdeveloped ear cartilage, and disproportionately reduced feet and hands. Hypogonadism, which is especially noticeable in boys, is also considered characteristic features of Prader-Willi syndrome. Patients are often cryptorchid and have underdeveloped scrotum and penis. Girls also suffer from decreased gonadal function, but these signs are rarely noticeable until adolescence. As the child develops, intellectual disabilities become apparent, manifested by poor learning, a small vocabulary and other speech disorders. In severe cases, patients also suffer from neurological deficits and symptoms of cardiac and respiratory problems.
During adolescence
The clinical manifestations of Willi-Prader syndrome reach their greatest intensity during puberty. This is due to the pronounced differences between patients and their peers going through puberty. Adolescents with pathology are delayed in development and also suffer from severe obesity. Symptoms of hypogonadism intensify. In girls, the onset of menarche - the first menstruation - is delayed, up to its complete absence, and breasts do not enlarge. Boys have an effeminate figure. Children's height remains below average. The intellectual abilities of patients are reduced, but the ability to read and write is preserved. Vocabulary gradually increases, although children still have difficulty expressing thoughts verbally. Teenagers suffer from increased anxiety and nervous excitability. Such behavioral characteristics, combined with a specific appearance, lead to difficulties in the process of socialization of such children.
Possible complications
In some cases, patients experience severe consequences of the development of Prader-Willi syndrome. Babies with the disease may suffer from birth defects hearts that pose a threat to their life and health. Neurological deficit is associated with the development of seizures, which require adequate control, and in some cases, hospitalization of the child in specialized medical centers. Episodes of diagnosis in patients with diabetes mellitus, which is associated with obesity, which develops against the background of metabolic disorders, are common. Excess weight also negatively affects the condition of the musculoskeletal system. In children, spinal deformities worsen and they suffer from pain due to inadequate load on the joints. Patients are predisposed to the development of oncological processes. However, Prader-Willi syndrome, with adequate treatment, does not significantly affect a person’s life expectancy.
Reasons for development
The pathology is of a genetic nature, that is, it is associated with the occurrence of mutations in the human chromosome set. Development of specific clinical signs caused by dysfunction of DNA fragments because paternal information is missing. As a result of such changes, there is a failure in the formation of the gonads. During the growth and development of the fetus, the consequences of hypogonadism occur, which include skeletal deformities and metabolic failures.
Diagnostic methods
Confirmation of the disorder begins with an examination. The doctor collects a detailed medical history. The presence of any chromosomal abnormalities in relatives speaks in favor of the formation of a genetic defect. The diagnosis is made based on the specific clinical picture of Prader-Willi syndrome, as well as the results of the patient's karyotyping. To identify accompanying pathologies and planning further therapy, standard blood tests and ultrasound are performed, allowing photos to be taken internal organs, evaluate their structure and size.
Treatment
No specific methods have been developed to combat the pathology. This problem associated with the genetic basis of the disease. Treatment of Prader-Willi syndrome is symptomatic and is aimed at both correcting existing disorders and preventing the development of complications.
In infancy, patients often require tube feeding, as well as mechanical ventilation in the presence of respiratory failure. When hypotonicity is detected, massage techniques and physiotherapy are used to support the musculoskeletal system.
As children grow older, they are prescribed hormonal medications. Somatotropin, testosterone and estrogen preparations are used depending on the gender of the patient. Therapeutic measures are also aimed at timely and intensive socialization of children. It involves communicating with a psychiatrist, visiting a speech therapist and a speech pathologist. The duration of therapy is individual and depends on the severity of the changes. In some cases, surgical intervention is performed to correct defects of the musculoskeletal system. Surgical techniques are also used to detect congenital heart defects. IN rehabilitation period various medications. Adrenergic blockers, such as Enap, nootropics, which include Piracetam, and sedatives, for example, Persen, are prescribed.
In infancy, doctors recommend giving Special attention providing adequate nutrition. This is necessary for adequate growth of the baby and development of internal organs. For this purpose, feeding schedules are established, and special devices are used to facilitate the sucking process in children with reduced reflexes. Characteristic feature Willi-Prader syndrome is a temporary problem with nutrition, but in some cases the child requires the installation of a nasogastric tube. At the same time, an important condition for adequate feeding is the control of calorie intake, especially during the period of active growth. Consulting a nutritionist will help you correctly create a child’s daily menu, which is necessary to prevent obesity. Vitamin and mineral supplements are also widely used to provide proper development musculoskeletal system.
To reduce the intensity of cognitive impairment, special stimulating techniques are recommended. They are aimed at improving fine motor skills and speech skills. An important stage of treatment is exercises that strengthen muscles and help reduce the manifestation of hypotension.
As the patient gets older, the child must be taught to control his own nutrition. This is due to a constant feeling of hunger against the background endocrine disorders. It is necessary to adhere to a clear eating regimen, as well as limit portion sizes.
Special needs of patients with the syndrome
Patients need outside help and support in many aspects of life. The family should facilitate the child’s interaction with society, and also encourage regular physical exercise. Many patients need to communicate with a psychotherapist to correct cognitive impairment, aggression and other neurological defects.
Prognosis and prevention
The outcome of the disease depends on the severity of its clinical manifestations, as well as the timeliness of treatment. medical care. In the absence of heart defects, impaired renal or pulmonary function, patients live to an advanced age, provided adequate treatment is provided.
Specific methods for preventing the disease have not been developed. Prevention of the formation of pathology is based on genetic analysis of the karyotype of future parents and proper pregnancy planning.
Prader-Willi syndrome occurs due to abnormalities of chromosome 15 (trisomy 15).
This rare genetic disorder, which affects multiple body systems, causes a disorder of the hypothalamus.
The hypothalamus is responsible for various functions connecting the nervous and endocrine systems. 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 a person.
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 Prader Willi syndrome in children is necessary to ensure that interventional treatment controls food intake and increases 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 a constant feeling of 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 IQs and experience cognitive disabilities, leading to poor performance at school age.
- Short stature: due to decreased secretion of growth hormone in affected people with small arms, legs, low 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, growth hormone therapy 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.
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, the clinical manifestations of both diseases are sharply opposite.
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 increased risk development of leukemia in patients with Prader-Willi syndrome. Studies have revealed a decrease in DNA repair (up to 65% compared to 97% in a healthy child) in the 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. Appear constant feeling hunger, leading to the development of obesity, with fat deposition observed mainly on the torso and proximal limbs.
Muscular hypotonia gradually decreases and school age almost completely disappears. 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 lexicon reduced. Patients are friendly, their mood is characterized by frequent changes. Impaired coordination and strabismus have been described.
There are also other anomalies: microdontia, hypoplasia of the cartilages of the auricles, ectropion (eversion of the eyelid), .
There are many pathological conditions that can be transmitted to a person along with genes. These are various types of genetic ailments that may differ in their severity and prognosis for the future. Some of them can be quite successfully corrected, while others cannot be treated at all and remain with a person for life or provoke death. One of the rather rare genetic pathologies is considered to be Prader-Willi syndrome, which develops due to the absence or insufficient functioning of certain genes. Let's try to understand the main features of this disease in details.
Why does Prader Wili syndrome develop? Causes of the condition
As we have already clarified, Prader-Willi syndrome is a hereditary disease. Deformed or missing genes that provoke the development of symptoms of the disease are located on the fifteenth paternal chromosome. It is worth considering that in most cases, such a disease is not transmitted directly from a sick person to his children, since this pathology is considered quite rare.
How does Prader Wiley syndrome manifest? Symptoms of the condition
Prader-Willi syndrome is characterized by the development of mild mental retardation, as well as some physical problems. One of its most obvious symptoms is considered to be an indomitable thirst for food - an intense feeling of hunger, which becomes the cause of gluttony. At the same time, the patient experiences intrusive thoughts about food and tries to find food and satisfy hunger by any means necessary.
Certain signs of this disease become noticeable already during the period of bearing a child. The classic manifestations of this are considered to be reduced fetal mobility, as well as its incorrect positioning. After the baby is born, he develops muscle hypotension, which continues to persist during the first year of the child’s life. In addition, children with a similar syndrome experience a decrease in the swallowing and sucking reflex, which significantly complicates the feeding process. Some violations motor functions this is also explained by the presence of muscle hypotension, which is why sick children can have difficulty sitting, holding their heads, etc. However, it is worth emphasizing that around school age, hypotension in patients decreases and practically disappears.
Prader-Willi syndrome in children also makes itself felt in strong and constant desire eat, while food consumption does not lead to satiety. Such clinical symptoms become noticeable around the second to fourth year of the baby’s life. They provoke the gradual development of hyperphagia or gluttony, the child begins to constantly think about food. His behavior becomes obsessive in nature, so the patient spends time in continuous search for food and attempts to satisfy the feeling of hunger. The described symptoms in any case become the cause of obesity, which most often manifests itself on the torso, as well as on the proximal limbs. The described manifestations of this pathological condition often become the cause of such a complication as obstructive apnea, which makes itself felt by the occurrence of respiratory arrest during sleep.
Other classic manifestations of Prader-Willi syndrome are considered to be a decrease in growth rate, an elongated head shape, and an almond-shaped eye shape. Patients have a wide bridge of the nose, their mouth is small in size, and their upper lip looks thin. Ears at the same time, they are located quite low, and the feet and hands look disproportionately small. In most cases, the disease leads to a decrease in pigmentation of the skin, hair, and iris. In addition, it is accompanied by dysplasia hip joints, curvature of the spine, reduced bone density. With Prader-Willi syndrome, patients suffer from increased drowsiness and strabismus, they have particularly thick saliva, as well as various dental problems. Puberty with such a pathology it occurs especially late.
What should those diagnosed with Prader Wili syndrome do? Treatment of the condition
Therapy for Prader-Willi syndrome is currently not possible. Scientists have not yet invented one medicine able to cope with such a disease. Correction may include the use of certain therapeutic measures to improve the patient’s quality of life. First of all, such events are designed to increase muscle tone, which is why children are recommended to undergo special massages, as well as physiotherapeutic sessions. Diet also plays an important role, and the patient’s diet should contain a minimum of fats and carbohydrates. In certain cases, the doctor may decide to prescribe gonadotropins; such hormonal therapy is designed to increase the growth of the sick baby, as well as optimize muscle tone. In this case, calories will be properly distributed throughout the body, which will help prevent obesity. Correction may also include classes with a defectologist, psychologist, as well as a speech therapist and the use of different special techniques development.
What can those with Prader Wili syndrome expect? Lifespan
With symptomatic correction and restriction of food intake, a patient with Prader-Willi syndrome can live for at least sixty years.
Despite the fact that Prader-Willi syndrome cannot be treated, patients with this diagnosis may well adapt to life more or less normally, but they will always have to be monitored in matters of food consumption.
Prader-Willi syndrome
Prader-Willi syndrome (abbreviated SPV)- this is a rare condition in which seven (or some parts thereof) on the 15th paternal chromosome (Q 11-13) are deleted or do not function normally (for example, with a partial deletion). The disorder was first described in 1956 Andrea Prader and Heinrich Willi, Alexis Labhart, Andrew Ziegler and Guido Fanconi.
PWS occurs in 1 person in 25,000-10,000 newborns. It is very important to remember that the genetic material that influences the development of the disease is paternal. Because this region of chromosome 15 is characterized by the phenomenon of imprinting. This means that for some genes in this region only one copy of the gene functions normally, through
Studies conducted in human groups and those carried out in mouse models have shown that deletion of 29 copies of the C/D box snoRNA SNORD116 (HBII-85) is the main cause of Prader-Willi syndrome.
Diagnostics
PWS occurs in approximately 1 in 10,000 to 25,000 births. Worldwide today there are more than 400,000 people who live with PWS. As already mentioned, this disease is traditionally characterized by hypotension, short stature, hyperphagia, obesity, and behavioral problems. Individuals with this disorder have small hands and feet and are characterized by hypogonadism and mild mental retardation.
However, if this disease is diagnosed at an early stage and its treatment is started, the prognosis for the development of the disease becomes more optimistic. PWS, like autism, is a disease that has very wide range manifestations and signs. The course of the disease differs in each special case and can vary from light form to severe, which progresses throughout a person’s life. Prader-Willi syndrome affects various organs and systems.
Typically, the diagnosis of Prader-Willi syndrome is made based on clinical manifestations. However, today genetic testing is increasingly used and is especially recommended for newborns with hypotension. Early diagnosis allows for early treatment of PWS. Daily injections are recommended for children with the syndrome recombinant growth hormone (GH) . Somatotropin (somatotropic hormone of the pituitary gland) maintains a constant increase muscle mass and may reduce the patient's appetite.
The basis for diagnosing the disorder, as already mentioned, is genetic testing, which can be carried out using the -methylation method, to determine whether there is a normally functioning region on chromosome 15q11-q13, deviations in which lead to the appearance of Prader-Willi and Angelman syndromes. This test allows identifying more than 97% of patients. Such testing must be carried out in order to confirm the diagnosis of PWS, especially in newborns (after all, they are still very young to test their ability to diagnose the disease based on clinical manifestations).
Because babies with Prader-Willi syndrome face some challenges when they are born, it should be remembered that congenital injuries and oxygen deprivation can complicate the genetic deficiencies that result in atypical PWS.
Differential diagnosis
Often, Prader-Willi syndrome is misdiagnosed. The reason for this is that many doctors are not aware of this syndrome. It is sometimes considered Down syndrome because the disorder is much more common than PWS. In addition, the obesity characteristic of PWS may also be present in Down syndrome through behavioral problems.
Adding to the problem is the fact that parents of children who have already had testing done to diagnose Prader-Willi syndrome may tell friends, family, and even doctors and nurses that their child has Down syndrome because they know about the disorder. more people. It is believed that about 75% of PWS remain undetected.
Treatment
There are currently no treatments for PWS. effective medicines. A number of drugs aimed at overcoming the symptoms of the disease are currently under development. During childhood, affected individuals should undergo treatment to help improve muscle tone. Physiotherapy is very important. During school year, sick children should receive extra help and the learning process should be very flexible. The biggest problem associated with PWS is severe obesity.
Due to severe obesity, a common complication is obstructive sleep apnea, which is why it may often be necessary to use CPAP (individual medical device for automated long-term auxiliary intranasal ventilation with continuous positive pressure).
Society and culture
The first public information about Prader-Willi syndrome appeared in the British media in July 2007, when the Channel 4 television channel showed a program called Can't Stop Eating, which described the daily life of two people from PWS - Joe and Tamara.
Actress and neurologist Mayima Bialik wrote a thesis on Prader-Willi syndrome for her PhD in 2008
