Leigh's syndrome (Subacute necrotizing encephalomyelopathy). Sjögren's disease - treatment with folk remedies. Herbal decoction for rinsing

A child with such a diagnosis can be born into any family - both a peasant and a president. And the likelihood of such a baby being born does not depend on the mother’s lifestyle or her health. A completely random failure during the union of male and female chromosomes during conception leads to the formation of an additional chromosome - the 47th - in the cells of the child’s body. Children with such a chromosome have a different rate of development and characteristic appearance than ordinary people.

What is Down syndrome called?

It should be noted that this is not a disease, but a set of certain genetic traits. Such a diagnosis can only be made by a doctor who uses a blood test to determine the presence of an extra chromosome. Down syndrome is a set of intellectual and physical symptoms, which arise as a result of the formation in the body of the embryo of an additional chromosome in the 21st pair of chromosomes, the so-called chromosomal pathology. This syndrome was named after the English physician John Langdon Down, who was the first to describe the pathology, its signs and consequences for the fetus and its development in 1866. According to statistics, 1 in 700-800 children is affected by Down syndrome. Since Down syndrome is a problem related solely to the set of chromosomes, there are no medications for it. this moment No. There are certain therapies that help control symptoms and medical consequences that occur in such people.

Let us remind you that children with Down syndrome have raised corners of the eyes, flat face, the oral cavity is slightly smaller than usual, and the tongue is slightly larger. Some conditions are more common in people with Down syndrome, such as: birth defects hearts, some of which are serious and demanding surgical intervention; Hearing deficiencies are common, and even more often, vision deficiencies often occur; diseases of the thyroid gland or colds. People with Down syndrome typically have varying degrees of intellectual impairment.

What therapy is carried out

Therapy for people with Down syndrome may include:

• Regular examinations and fluoroscopy.
• Drug prevention.
• Surgical interventions.
• Psychological counseling and support.

Regular examinations and fluoroscopy People with Down syndrome have increased risk diseases various diseases. They are most prone to such ailments as:

• Congenital heart defect;
• leukemia and other types of cancer;
• problems with the immune system;
• thyroid diseases;
• problems related to bones, muscles and nerve endings;
• hearing problems;
• vision problems;
• epilepsy;
• developmental delay;
• oligophrenia (mental retardation);
• premature aging;
• Alzheimer's disease.

Due to all of the above diseases and their complications, people with Down syndrome have an increased risk of premature death. Regular checkups are very important. Visits to the doctor can ensure timely identification of the disease and, if necessary, its treatment. The doctor can also schedule a mandatory fluoroscopy, which can help identify the problem before symptoms appear. For drug treatment For some consequences, only certain medications can be used (prescribed exclusively by a doctor). But it is the syndrome that cannot be treated. Until today, not a single medicine has been found that can cure Down syndrome as a whole.

Surgical interventions for Down syndrome

Some conditions that occur in people with the syndrome require surgery. For example, about half of children suffering from this syndrome have congenital heart disease and pulmonary hypertension ( high blood pressure in the lungs). Related congenital problems with the heart in people with Down syndrome include:

• Fallot's syndrome (blue type congenital heart defect);
• patent ductus arteriosus;
• atrial septal defect;
• ventricular septal defect of the heart.

If heart disease is identified before the onset of pulmonary hypertension, surgery will provide favorable results and help, if not cure, then slow the progression of heart disease. In addition, on average, 3% of children with Down syndrome develop cataracts, which are easily removed with surgery.

Psychological support

Counseling for people with Down syndrome and parents whose children are affected has been shown to be very helpful. Psychological support for people with Down syndrome is no less important, as it helps them adapt to society. It is also very important to study as much as possible about Down syndrome and the consequences it leads to. People need to understand the specifics of this disease, know how to behave with such people and how to help them.

The answer to the question - is it possible in principle to cure Down syndrome can be answered briefly - no. But not everything is so simple - after all, this congenital disease- not just a set of chromosomes, but also a complex of external, internal factors, psychological and physical characteristics. It is possible to correct features individually, so we can say that with some effort you can bring many of the child’s characteristics closer to the norm. A child may not only be developed - he may be more developed than his peers without a genetic disease.

Features of the disease

Down syndrome is a genetic disorder when one extra chromosome, the 47th chromosome, appears at the cellular level. It is difficult to call such a state of the body a disease, but still a child with such a congenital disease develops according to a special principle, differs externally and psychologically.

This genetic trait occurs in approximately one in 800 cases. Children may have physical disabilities, often hidden from public view, that need to be identified and treated. And relatively psychological development- if a child is interested in something and works in a certain direction, then the child can take any course of study and become a professional in his field, because he has some absent-mindedness, which is fully compensated by diligence and specialization in the chosen field.

Children who have this genetic syndrome, differ in eyes with slightly raised corners of the eyes, the face does not have sufficient volume, the mouth is smaller, and the tongue is large. Except external signs, the syndrome is accompanied physical illnesses- heart defects that sometimes need to be operated on, damage to hearing, vision, may be weakened thyroid, children have a weakened immune system and are more likely to get colds. Intellectual disorders in the syndrome consist of developmental delay, it can be of varying degrees, sometimes it manifests itself in naivety and innocence, despite the fact that children are quite teachable and can take their rightful place in society.

Therapy

Children with Down syndrome must be closely monitored and treatment may include:

Under no circumstances should a patient be isolated from society; he must be integrated into it, no matter how the environment perceives him. The child must be able to overcome difficulties of both physical and psychological development.

People who have Down syndrome are more likely to have:

• congenital heart disease;
• oncological diseases different types, unfortunately, leukemia is common;
• the immune system is weakened, so children often suffer from infectious and viral diseases;
• the thyroid gland may not function well;
• bones, muscles, nervous system may be subject to various diseases, or simply be weakened and susceptible to injury;
• painful hearing;
• painful vision;
• seizures in epilepsy are possible;
• developmental delay may have varying degrees, but, as a rule, it is present and noticeable; mental retardation in the form of oligophrenia is also possible;
• possible Alzheimer's disease;
• the body undergoes aging faster.

People with Down syndrome should be examined by doctors regularly, even if there are no visible symptoms, to identify and prevent diseases to which they are prone. This way you can delay premature aging, which people with a genetic disorder are also prone to. The doctor draws up a schedule for fluoroscopy, and any deviations detected in time are successfully treated. Unfortunately, the disease cannot be cured at the genetic level, but life can be made easier and more fulfilling without unnecessary suffering.

When is surgery needed?

Unfortunately, half of children with Down syndrome are diagnosed with heart defects, as well as pulmonary hypertension (increased lung pressure), these diseases have complications:

Heart disease leads to increased pressure in the lungs, so they need to be detected early. A timely diagnosed heart is either completely treated or healed so that the progression of the disease slows down. Surgery is necessary to remove cataracts, which occur in every thirtieth patient with Down syndrome.

Adaptation to society

People with Down syndrome find themselves in a situation in which they cannot independently adapt to full life in society, but society does not want to perceive them as full members. Therefore, there is no program for their socialization, no professional adaptation of these people.

It turns out that they are not taught because they are supposedly unteachable or not very teachable. But that's not true. Of course, people with Down syndrome cannot be as multitasking as people without genetic diseases. But still, if you instill a love for a certain type of activity and specialize in people with developmental disabilities, then you can fully expect them to be good workers.

People with Down syndrome don't just work well. They can perform intellectual tasks and be professionals. You just need to not succumb to stereotypes, but understand that they need to be trained and treated as normal citizens who have a need to work and be useful in society. The syndrome is a signal that a person needs to be helped to become independent.

If you work purposefully, we can say that the syndrome can be cured, because the main disadvantage of people with the syndrome is not genetic defect, but the dismissive attitude of other people, which can be overcome.

The birth of a child is a holiday for every prosperous family. The expected miracle will come into the world, where it will be loved, cherished and collectively prepared for the transition to the next, “adult” world. But can a family just as unselfishly await the birth of a child if he is not in ideal physical and physical condition? psychological health? After all, no one gives one hundred percent guarantees, and it is especially difficult to learn such “news” even before the birth of the child.

Genomic pathologies are considered the most severe, since their cause is hidden deep within the personal history of the development of a particular person and his ancestors. Reasons for development various syndromes, including Down syndrome, are not always obvious and unambiguous.

Down syndrome can sometimes be diagnosed before the baby is born. Typically, such a test is offered to parents whose families have had cases of the syndrome, or if the parents are over 35 years old.

How is the syndrome diagnosed?

The risk of such tests is that they involve an invasive method of obtaining materials. With them, special instruments are inserted into the mother's uterus - and this entails the risk of damage to the walls of the uterus, the fetus itself, and poses a risk of miscarriage.

There are also non-invasive testing methods that involve testing through the mother's blood. Such procedures are carried out at the end of the first or already at the beginning of the second trimester of pregnancy.

The test does not always give a guaranteed result: the rate of false readings is 2-5%. Laboratory verification of the results takes several weeks.

Signs of Down syndrome in newborns

If special tests have not been carried out to detect an extra chromosome in a child, doctors can determine the presence of signs of Down syndrome immediately at birth.

But any external signs of the syndrome can be divided into three conditional groups:

The first thing that catches your eye is the flat shape of the face (including the nose), which is present in 90% of cases. The newborn may also have a shortened skull (brachycephaly), skin fold on the neck, narrow eye slits (“Mongoloid eyes”), flat back of the head, open mouth and small ears.

The hands of a sick baby will also tell their story: transverse folds on the palms, short and large hands, hypermobile joints, curvature of the little fingers.

Upon closer examination, an infant with Down syndrome will have short limbs and short phalanges. There is a high possibility of having a short or flat nose, dental defects, a grooved tongue, a narrow arched palate, strabismus and even a deformed chest(which over the years will become a resonating factor for the development of already guaranteed heart diseases).

Other visual impairments in addition to strabismus include lens opacities and Brushfield spots - the presence of at least one malfunction is typical in 100% of cases.

In addition to external signs, congenital defects are distinguished:

Is it possible to cure Down syndrome?

Diagnosing Down syndrome does not require any special treatment method, since it does not exist. Although earlier attempts were made to treat infants and children with the syndrome with pituitary and thyroid hormones, these methods were never brought to the final stage.

Significant higher value have psychological and moral measures and conditions that must be observed by the family in the event of Down syndrome being detected in one of the children.

You can live with Down syndrome, an increase is being recorded these days average duration life - sometimes this figure reaches the mark “50 years”.

Children with the syndrome, despite common misconceptions, are teachable. They are also capable of love, care, interest in life, individuality and even talent.

Yes, it is true that children with the syndrome have, to a greater or lesser extent, mental and speech development delays.

The second truth is that such children need love and support much more than other children. This is especially acutely felt over the age of 8 - when the child finds himself in an environment of communication with other children, for whose kindness and understanding no educator or teacher can vouch.

Naturally, in our country it is much better for children with Down syndrome to be educated at home and special programs, but you should never forget about communicating with other children. Some countries have training programs healthy children to communicate with retarded children.

What does Down syndrome mean for adult life?

People with Down syndrome are expected to be short, have a hoarse or nasal voice, and have a low IQ, which is equivalent to moderate mental retardation.

Disorders from the caste of cardiology, Alzheimer's disease and acute leukemia, pneumonia is far from full list dangers for which a person with Down syndrome is at risk.

But at the same time, the extra 21st chromosome provides a person with some protection from the development of cancer cells.

Most men with this syndrome are doomed to infertility, but women can have children. But many people with Down syndrome still get married and quite often still give birth to healthy children.

How to recognize and can Edwards syndrome be cured?

Many people have heard about a disease called Down syndrome, but not everyone knows that there is another genetic disease based on a violation of the number of chromosomes - this disease is called Edwards syndrome. Why does Edwards syndrome occur in a fetus, what is it and how to determine whether there is a risk for the mother to give birth to a sick child?

The causes of Edwards syndrome are the repetition of the eighteenth chromosome in the human genetic code. This repetition in genetics is called trisomy, and the second name of the disease is “Trisomy-18”. An extra chromosome contributes to the occurrence of all kinds of deviations from the norm in the development of the fetus even in the womb. These deviations subsequently lead to the death of the child or make him disabled for life. The syndrome was named after the physician D. Edwards, who for a long time engaged in a comprehensive study of this disease. It was he who discovered that the cause of this disease is one extra and unnecessary to a person chromosome.

The karyotype of Edwards syndrome is the presence in the human genetic code of an increased number of eighteenth chromosomes.

Visually, the karyotype formula looks like this:

There are three types of trisomy (doubling):

How common is the disease?

More than half of the embryos with the manifestation of this disease die in utero (approximately 60%). Among the diseases genetic nature this disease ranks second after Down syndrome. For every 15,000 babies, there are approximately two babies born with signs of Edwards disease.

Only 10% of infants with such developmental pathologies survive to one year. Boys can live up to 3 months, and sick girls up to ten months of age. Very few children survive and progress to adulthood.

All these are consequences of negative pathologies of fetal development.

What are the causes of Edwards syndrome? The sex cells of a man and a woman each carry twenty-three chromosomes. After fertilization, the egg combines all the common chromosomes of the parents, that is, 46 pieces. It is still unknown why the 47th chromosome appears in some cases, but the sad result of this appearance is the beginning genetic mutation fetus

There are three types of this disease:

1. Chromosome 47 is the cause of the mutation in 95% of cases;
2. in 2% the cause of the mutation is not an extra chromosome, but an elongation or translocation of the eighteenth chromosome;
3. the remaining 3% of cases are mosaic trisomy - the forty-seventh chromosome is found only in some of the cells of the patient's body.

The most severe case is considered the first variant of this disease.

Signs of the disease may appear as appearance a newborn, and in the pathology of the development of the psyche and nerves, in improperly developed internal organs.

Children suffering from this disease have pathological changes appearance.

Edwards syndrome in newborns manifests itself:

• too small fetal weight (2100–2200 g);
• small head size compared to the body;
• micrognathia - improper development jaws;
• cleft palate or split lip;
• constant uneven squeezing of fingers;
• low-lying ears;
• fused or webbed toes;
• uneven feet (“rocking foot”);
• microstomia - a disproportionately small mouth opening.

Pathologies of internal organs

The second sign of the disease is internal pathologies in the body: internal organs do not function properly or do not function at all, there is poor motor skills and inhibited mental and nervous development.

Pathologies internal organs may include:

• defective interventricular septum or congenital heart disease;
• various hernias;
• open ductus arteriosus;
• gastroesophageal disease;
• inability to eat;
• esophageal atresia or obstruction anal passage;
• Meckel's diverticulum.

Pathologies of the central nervous system manifest themselves in:

• delay general development psyche and nerves;
• intellectual disability;
• underdevelopment of the cerebellum and corpus callosum;
• insufficiently deep or completely absent convolutions of the brain.

Pathologies of the genitourinary system with Trisomy 18:

• cryptorchidism and hypospadias;
• increased size of the clitoris and undeveloped ovaries;
• a curved or segmented kidney;
• duplication of the ureters;
• atrophied muscular system, oblique eyeballs, scoliosis of the spine.

Genetic diseases differ from viral and other varieties in that it is impossible to accidentally become infected with them or become ill from someone due to the absence dietary nutrition or lack healthy image life. These diseases are recorded in human cells at the gene level.

Deformations of the face, skull, skeleton

Patients have obvious deformations in the bones of the skull and facial structure:

• the shape of the skull is dolichocephalic, with a sloping forehead and an elongated occipital part;
• short neck, disproportionately tiny mouth and narrow chin;
• bifurcation of the palate or upper lip;
• small and narrow eyes with pronounced squint;
• the ear is abnormally low relative to the head, there are no lobes and no tragus on the ears;
• partially unformed or absent auditory opening;
• loose and sagging skin (ptosis), there is a “collar” fold of skin on the neck;
• the skeleton of the patients is also partially deformed;
• congenital hip dislocations;
• wide and short chest;
• the spaces between the ribs are less than normal;
• almost always pathologies on the feet (clubfoot, rocking feet, thick and short thumbs legs);
• fingers crossed.

Diagnosis of the disease

It is possible to diagnose Edwards syndrome using different stages development of the fetus or immediately after the end of labor. Intrauterine development examined using a device ultrasound examination and biochemical tests, pathologies in the development of a newborn child are determined by a pediatrician.

They try to determine genetic abnormalities of the fetus long before the birth of the baby. For this purpose, prenatal diagnosis is carried out at two stages of pregnancy.

During initial diagnosis, which is carried out at 11–13 weeks, in expectant mother are taken various tests for screening (biochemistry tests). This procedure allows you to determine the karyotype of the embryo and which risk group it can be classified into.

At this stage of pregnancy, a woman’s blood tests can determine:

• the percentage of proteins in the blood for the presence of chorionic hormone - hCG;
• percentage of plasma protein A.

When diagnosing Edwards syndrome, the results of biochemical tests and the age of the mother are taken into account. Based on the totality of data, the expectant mother is classified as a risk group.

Second stage of diagnosis carried out among women at risk:

• during pregnancy from 8 to 12 weeks, a chorionic villus biopsy is performed;
• at a period of 14 to 18 weeks - the uterine fluid in which the baby develops is studied (the procedure is called amniocentesis);
• 20 weeks after the amniocentesis procedure, a blood sample is taken from the baby's umbilical cord in utero (cordocentesis) and examined for the presence of an extra chromosome.

If primary genetic diagnostics has not been tested for Edwards syndrome, a woman at advanced stages of pregnancy will be examined using an ultrasound machine.

Over a long period of time, an ultrasound examination device can visually show a specialist pathology in the development of the skeleton, genitourinary system or muscles and tissues of the head, cardiovascular system.

When a child is born, pathologies in its development can be determined by a specialist during examination.

Visual indicators of the presence of Edwards syndrome in a newborn are:

• too much small size baby's head (microcephaly);
• bifurcation on the lip or palate;
• dermatography (absence of a distal fold on the fingers, altered skin pattern of the palms, a groove across the palm, the presence of arcs on the skin of the pads of the fingers, the axial triradius is located distally, the ridge count is increased).

Further diagnosis to confirm this disease in a newborn child: its karyotype is determined.

Is it possible to cure a baby?

Only one in ten children born with this condition survives to 12 months of age. Therefore, the initial treatment of sick babies is aimed at correcting those pathologies that threaten the baby with death. In case of intestinal or anal atresia, measures are taken for defecation, the baby is fed through a tube, if inflammatory or infectious processes- carry out therapeutic treatment.

If the baby can be saved, then surgical interventions are subsequently performed:

• remove the cleft palate;
• fight heart defects;
• operate on umbilical and inguinal hernia.

Children are also treated with medications - medications are used for increased acidity, flatulence, constipation.

Often Edwards syndrome gives impetus to the development of diseases such as:

• otitis media;
• kidney cancer;
• pneumonia and conjunctivitis;
• snoring and pulmonary hypertension;
• high intra-arterial pressure;
• sinusitis and sinusitis;
• infectious inflammation of the urinary and reproductive systems.

For the majority of children born with Edwards disease, the further prognosis for the development of the disease is unfavorable - those who do not die before one year and live to a relatively adult age have obvious mental inhibition in development, cannot take care of themselves, they need constant care and control. But they understand when they are treated kindly, comforted, and played. Patients with Edwards syndrome can eat, smile, and little by little learn all sorts of useful household skills.

The fact that with this disease patients have a whole “bouquet” of improperly developed and non-functioning organs leads to a high percentage of child mortality. If, based on the results of an examination in the first months of pregnancy, a woman is classified as at risk for this fetal disease, doctors usually give recommendations for artificial termination of pregnancy. But the final decision is made expectant mother. Often a woman does not dare to terminate her pregnancy, hoping for a medical error and a favorable outcome. Unfortunately, effective ways combating the manifestation of Edwards syndrome on given time not found.

Is there a cure for Down syndrome?

The answer to the question - is it possible in principle to cure Down syndrome can be answered briefly - no. But not everything is so simple - after all, this congenital disease is not just a set of chromosomes, but also a complex of external, internal factors, psychological and physical characteristics. It is possible to correct features individually, so we can say that with some effort you can bring many of the child’s characteristics closer to the norm. A child may not only be developed - he may be more developed than his peers without a genetic disease.

Features of the disease

Down syndrome is a genetic disorder when one extra chromosome, the 47th chromosome, appears at the cellular level. It is difficult to call such a state of the body a disease, but still a child with such a congenital disease develops according to a special principle, differs externally and psychologically.

This genetic trait occurs in approximately one in 800 cases. Children may have physical disabilities, often hidden from public view, that need to be identified and treated. As for psychological development, if a child is interested in something and works in a certain direction, then the child can take any course of study and become a professional in his field, because he has some absent-mindedness, which is fully compensated by diligence and specialization in the chosen field.

Children who have this genetic syndrome are distinguished by eyes with slightly raised corners of the eyes, the face does not have sufficient volume, the mouth is smaller, and the tongue is large. In addition to external signs, the syndrome is accompanied by physical diseases - heart defects, which sometimes need to be operated on, damage to hearing, vision, the thyroid gland may be weakened, children have a weakened immune system, and more often suffer from colds. Intellectual disorders in the syndrome consist of developmental delay, it can be of varying degrees, sometimes it manifests itself in naivety and innocence, despite the fact that children are quite teachable and can take their rightful place in society.

Children with Down syndrome must be closely monitored and treatment may include:

• visits to the doctor should be regular, and if necessary, fluoroscopy is performed;
• Chronic diseases are treated with medications, and they also do drug prevention when there is a threat of any disease, if a child is found to be prone to it;
• since children are susceptible to various genetic defects, which manifest themselves in various physical ailments, surgical operations are performed, for example, for heart disease;
• An important role in treatment is played by psychological support, the development of intelligence through intensive training in regular or special educational institutions;
• moral education helps to overcome the teenage crisis and confidently enter adulthood.

Under no circumstances should a patient be isolated from society; he must be integrated into it, no matter how the environment perceives him. The child must be able to overcome difficulties of both physical and psychological development.

People who have Down syndrome are more likely to have:

• congenital heart disease;
• oncological diseases of various types, unfortunately leukemia is common;
• the immune system is weakened, so children often suffer from infectious and viral diseases;
• the thyroid gland may not function well;
• bones, muscles, nervous system may be subject to various diseases, or simply be weakened and susceptible to injury;
• painful hearing;
• painful vision;
• seizures in epilepsy are possible;
• developmental delay may have varying degrees, but, as a rule, it is present and noticeable; mental retardation in the form of oligophrenia is also possible;
• possible Alzheimer's disease;
• the body undergoes aging faster.

People with Down syndrome should be examined by doctors regularly, even if there are no visible symptoms, to identify and prevent diseases to which they are prone. This way you can delay premature aging, which people with a genetic disorder are also prone to. The doctor draws up a schedule for fluoroscopy, and any deviations detected in time are successfully treated. Unfortunately, the disease cannot be cured at the genetic level, but life can be made easier and more fulfilling without unnecessary suffering.

When is surgery needed?

Unfortunately, half of children with Down syndrome are diagnosed with heart defects, as well as pulmonary hypertension (increased lung pressure), these diseases have complications:

• Fallot's syndrome;
• the ductus arteriosus is open;
• the intercardiac septum sometimes has a defect;
• Ventricular septal defect also occurs.

Heart disease leads to increased pressure in the lungs, so they need to be detected early. A timely diagnosed heart is either completely treated or healed so that the progression of the disease slows down. Surgery is necessary to remove cataracts, which occur in every thirtieth patient with Down syndrome.

Adaptation to society

People with Down syndrome find themselves in a situation in which they cannot independently adapt to a full life in society, and society does not want to perceive them as full members. Therefore, there is no program for their socialization, no professional adaptation of these people.

It turns out that they are not taught because they are supposedly unteachable or not very teachable. But that's not true. Of course, people with Down syndrome cannot be as multitasking as citizens without genetic diseases. But still, if you instill a love for a certain type of activity and specialize in people with developmental disabilities, then you can fully expect them to be good workers.

People with Down syndrome don't just work well. They can perform intellectual tasks and be professionals. You just need to not succumb to stereotypes, but understand that they need to be trained and treated as normal citizens who have a need to work and be useful in society. The syndrome is a signal that a person needs to be helped to become independent.

If you work purposefully, you can say that the syndrome can be cured, because the main disadvantage of people with the syndrome is not a genetic defect, but the neglectful attitude of other people, which can be overcome.

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What is Down syndrome called?

It should be noted that this is not a disease, but a set of certain genetic traits. Such a diagnosis can only be made by a doctor who uses a blood test to determine the presence of an extra chromosome. Down syndrome is a set of intellectual and physical symptoms that arise as a result of the formation in the body of an embryo in the 21st pair of chromosomes of an additional chromosome, the so-called chromosomal pathology. This syndrome was named after the English physician John Langdon Down, who was the first to describe the pathology, its signs and consequences for the fetus and its development in 1866. According to statistics, 1 in 700-800 children is affected by Down syndrome. Since Down syndrome is a problem associated solely with the set of chromosomes, there is currently no cure for it. There are certain therapies that help control the symptoms and medical consequences that occur in such people.

Let us remind you that children with Down syndrome have raised corners of the eyes, a flat face, a slightly smaller mouth than usual, and a slightly larger tongue. Some conditions are more common in people with Down syndrome, such as: congenital heart defects, some of which are serious and require surgery; defects in hearing and even more often in vision are common; thyroid diseases or colds often occur. People with Down syndrome typically have varying degrees of intellectual impairment.

What therapy is carried out

Therapy for people with Down syndrome may include:

• Regular examinations and fluoroscopy.
• Drug prevention.
• Surgical interventions.
• Psychological counseling and support.

Regular examinations and fluoroscopy People with Down syndrome have an increased risk of developing various diseases. They are most prone to such ailments as:

• Congenital heart defect;
• leukemia and other types of cancer;
• problems with the immune system;
• thyroid diseases;
• problems related to bones, muscles and nerve endings;
• hearing problems;
• vision problems;
• epilepsy;
• developmental delay;
• oligophrenia (mental retardation);
• premature aging;
• Alzheimer's disease.

Due to all of the above diseases and their complications, people with Down syndrome have an increased risk of premature death. Regular checkups are very important. Visits to the doctor can ensure timely identification of the disease and, if necessary, its treatment. The doctor can also schedule a mandatory fluoroscopy, which can help identify the problem before symptoms appear. For the medicinal treatment of some consequences, only certain drugs can be used (prescribed exclusively by a doctor). But it is the syndrome that cannot be treated. Until today, not a single medicine has been found that can cure Down syndrome as a whole.

Surgical interventions for Down syndrome

Some conditions that occur in people with the syndrome require surgery. For example, about half of children suffering from this syndrome have congenital heart disease and pulmonary hypertension (increased pressure in the lungs). Associated congenital heart problems in people with Down syndrome include:

• Fallot's syndrome (blue type congenital heart defect);
• patent ductus arteriosus;
• atrial septal defect;
• ventricular septal defect of the heart.

If heart disease is identified before the onset of pulmonary hypertension, surgery will provide favorable results and help, if not cure, then slow the progression of heart disease. In addition, on average, 3% of children with Down syndrome develop cataracts, which are easily removed with surgery.

Psychological support

Counseling for people with Down syndrome and parents whose children are affected has been shown to be very helpful. Psychological support for people with Down syndrome is no less important, as it helps them adapt to society. It is also very important to study as much as possible about Down syndrome and the consequences it leads to. People need to understand the specifics of this disease, know how to behave with such people and how to help them.

Reye's syndrome: symptoms, how to treat

Acetylsalicylic acid (aspirin) is one of the most popular and affordable medications used to treat various diseases and ailments. But this seemingly safe and familiar drug from childhood is not suitable for everyone. In 1963, a dangerous and quickly developing disease threatening the life of a child, arising due to hypersensitivity To this medicine. The disease is called Reye's syndrome. How dangerous the disease is, how to recognize it and what measures to take - I decided to learn about all this from a qualified radiation diagnostics doctor.

General description of the disease

Reye's syndrome is quite rare, but quite dangerous disease which may threaten the child's life. This disease is accompanied by fatty liver and inflammation of the brain, a complete disruption of the body's vital functions. Reye's syndrome mainly affects children and adolescents; it rarely develops in adults.

The first description of the syndrome appeared in 1963. This is many years of work by Ray and his colleagues. For several years, patients were observed, the causes of the disease and symptoms were studied.

Even then, it was noted that significant outbreaks of the disease were observed among patients with influenza, chicken pox, rubella, measles, etc. It was Ray’s team who noticed that taking aspirin and tetracycline drugs only aggravated the development of the disease.

You can avoid many health problems if you get tested regularly. What can they talk about? Read here.

Most typical symptoms

The onset of Reye's syndrome often coincides with recovery period after the transferred viral disease such as chicken pox or influenza, or after taking medications containing aspirin. The development of symptoms usually occurs within 3-7 days from the onset of the underlying viral disease. The disease develops over a period of time from several hours to 1-2 days.

The first manifestations of Reye's syndrome usually include:

• sudden nausea with severe vomiting;
• loss of interest with lack of energy;
• very strange behavior including lethargy, personality changes, irritability, slurred speech;
• drowsiness, the child constantly wants to sleep.

When damage to the liver and brain occurs, the following symptoms appear:

• the child does not know where he is, does not recognize relatives and friends, cannot answer the simplest questions;
• deep appears fast breathing(hyperventilation);
• the child becomes very aggressive and may even attack for no reason;
• convulsions and coma appear.

With the appearance of such symptoms, when breathing is impaired, especially in young children under three years of age, drowsiness appears with a sharp transition to lethargy and complete disorientation, and then psychomotor agitation and convulsions occur; small rash necessary urgent appeal to the doctor.

From the very beginning of the disease, the liver sharply increases in volume, kidney function is disrupted, with a subsequent decrease in the daily volume of urine. Such a child must be urgently hospitalized. To make a final diagnosis of Reye's syndrome, a liver biopsy and lumbar puncture are performed.

Only the use of intensive drug therapy can alleviate his condition, subject to immediate medical attention.

Even if it was possible to bring the child out of a coma, irreversible changes may occur in the brain, which lead to mental fatigue and the appearance of convulsions, and the development of cirrhosis of the liver.

Only a mild form of the disease, timely appeal see a doctor and very intensive therapy make it possible to completely cure the child.

An electroencephalogram initially reveals diffuse rhythm disturbances in electrical pathways; in the final stage the disappearance of any electrical activity brain Biological studies reveal:

• hyperglycemia;
• respiratory (initially) alkalosis, later metabolic acidosis, and in the final stage respiratory acidosis;
• increased blood urea (especially in a comatose state);
• profound impairment of dysproteinemia tests;
• increased levels of ammonia in the blood (especially in the stage of establishing disorders);
• quickly returning to normal, despite the severe clinical course;
• increased secretion of amino acids due to renal tubular dysfunction;
• moderate leukocytosis with polynucleosis;
• CSF is always normal.

A successful outcome of treatment of the disease depends on its timeliness.

Since there are currently no known methods that can stop the course of the disease, only maintenance therapy is prescribed. Treatment of Reye's syndrome is primarily aimed at normalizing the functions of vital organs and systems.

Another problem that parents often have to deal with is nosebleeds. Why they occur and how to deal with it can be read here.

To cleanse the body of excess metabolites, intravenous infusion of electrolytes, fluids and glucose is necessary (with their volume controlled due to the development of cerebral edema). Hyperammonemia is treated with hemodialysis or sodium benzoate to reduce intracranial pressure Corticosteroids and Mannitol are used. To correct breathing problems, artificial ventilation is prescribed if necessary. In case of deep coma, decompression craniotomy, exchange blood transfusion, and hypothermia are performed.

To prevent the development of Reye's syndrome, parents need to stop treating their child with drugs that include ASA as antipyretics and pain relievers. If you suspect the occurrence of the syndrome, an urgent visit to a doctor and adequate medical care is required, the timeliness of which depends on the health and life of your child.

Sjögren's syndrome is autoimmune disease, which causes systemic damage to connective tissues. The exocrine glands - the salivary and lacrimal glands - suffer the most from the pathological process. In most cases, the disease has a chronic progressive course.

Sjögren's syndrome - what is this disease?

The complex of symptoms of dry syndrome was first noticed by the Swedish ophthalmologist Sjögren a little less than a hundred years ago. He discovered large quantity his patients who came to him with complaints of dry eyes and a couple of other identical symptoms: chronic inflammation joints and xerostomia - dry mucous membranes oral cavity. The observation also interested other doctors and scientists. It turned out that this pathology is common and specific treatment is required to combat it.

Sjögren's syndrome - what is it? This chronic autoimmune disease appears against a background of malfunctions immune system. Individual organism own cells mistakes them for foreign ones and begins to actively produce antibodies to them. Against this background, it develops inflammatory process, which leads to a decrease in the function of the exocrine glands - usually salivary and lacrimal.

Sjögren's syndrome - causes

Medicine cannot yet say unequivocally why autoimmune diseases develop. That’s why it’s a mystery where dry Sjögren’s syndrome comes from. It is known that genetic, immunological, hormonal and some external factors are involved in the development of the disease. In most cases, the impetus for the development of the disease is viruses - cytomegalovirus, Epstein-Barr, herpes - or diseases such as polymyositis, systemic scleroderma, lupus erythematosus, rheumatoid arthritis.

Primary Sjögren's syndrome

There are two main types of disease. But they appear approximately the same. Drying of the mucous membranes in both cases develops due to lymphocytic infiltration of the exocrine glands along the gastrointestinal tract And respiratory tract. If the disease develops as an independent disease and nothing preceded its appearance, then this primary disease Sjögren.

Secondary Sjögren's syndrome

As practice shows, in some cases the disease occurs against the background of other diagnoses. According to statistics, secondary dry syndrome is found in 20 - 25% of patients. It is diagnosed when the disease meets the criteria for problems such as rheumatoid arthritis, dermatomyositis, scleroderma and others associated with connective tissue lesions.

Sjögren's syndrome - symptoms

All manifestations of the disease are usually divided into glandular and extraglandular. The fact that Sjogren's syndrome has spread to the lacrimal glands can be understood by the feeling of burning, “sand” in the eyes. Many people complain of severe itching of the eyelids. Often the eyes turn red, and a viscous whitish substance accumulates in their corners. As the disease progresses, photophobia occurs, the palpebral fissures become noticeably narrower, and visual acuity deteriorates. Enlargement of the lacrimal glands is a rare occurrence.

Characteristic signs of Sjogren's syndrome, which affects the salivary glands: dry mucous membranes in the mouth, red border, lips. Often, patients develop jams, and, in addition to the salivary glands, some nearby glands also enlarge. At first, the disease manifests itself only when physical activity or emotional stress. But later, the dryness becomes permanent, the lips become covered with crusts that crack, which increases the risk of a fungal infection.

Sometimes, due to dryness in the nasopharynx, crusts begin to form in the nose and auditory tubes, which can lead to otitis media and even temporary hearing loss. When the throat becomes very dry and vocal cords, hoarseness and hoarseness appear. And it also happens that impaired swallowing leads to atrophic gastritis. The diagnosis is manifested by nausea, loss of appetite, heaviness in the epigastric region after eating.

Extraglandular manifestations of the symptom complex Sjogren's syndrome look like this:

• joint pain;
• stiffness of muscles and joints in the morning;
• muscle weakness;
• small bloody rash that occurs against the background of vascular damage;
• neuritis of the facial or trigeminal nerves;
• hemorrhagic rash on the trunk and limbs;
• vaginal dryness.

Sjögren's syndrome - differential diagnosis

The definition of the disease mainly relies on the presence of xerophthalmia or xerostomia. The latter is diagnosed using sialography, parotid scintigraphy and biopsy salivary glands. To diagnose xerophthalmia, the Schirmer test is performed. One end of a strip of filter paper is placed under the lower eyelid and left for a while. In healthy people, about 15 mm of the strip will get wet after 5 minutes. If Sjögren's syndrome is confirmed, the diagnosis shows that no more than 5 mm is wet.

At differential diagnosis It is important to remember that SS can develop in parallel with diagnoses such as autoimmune thyroiditis, percinous anemia, drug disease. The determination of primary sicca syndrome is greatly facilitated by the detection of SS-B antibodies. It is most difficult to diagnose Sjögren's disease with rheumatoid arthritis, because joint damage begins long before signs of dryness appear.

Sjögren's syndrome - tests

Diagnosis of the disease involves laboratory research. When diagnosed with Sjogren's disease, tests show approximately the following results:

1. A general blood test determines accelerated ESR, anemia and low white blood cell count.
2. OAM is characterized by the presence of protein.
3. Protein is increased and in biochemical analysis blood. In addition, the study reveals the maximum titers of rheumatoid factor.
4. A special blood test for the presence of antibodies to thyroglobulin in 35% shows an increase in their concentration.
5. The results of a salivary gland biopsy confirm the symptoms of Sjögren's syndrome.

Sjögren's syndrome - treatment

This serious problem, but it is not fatal. If you pay attention to its signs in time and start treatment when Sjögren’s disease is diagnosed, you can live with it and feel quite comfortable. The main thing for patients is not to forget about the importance of a healthy lifestyle. This will help strengthen the immune system and prevent active development pathological process and will significantly reduce the risk of complications.

Can Sjögren's syndrome be cured?

Once the diagnosis is confirmed, the patient receives therapeutic recommendations. Sjögren's syndrome is currently treated successfully, but it is not yet possible to completely get rid of the disease. For this reason, it is only carried out symptomatic therapy. The criteria for assessing the quality of treatment are normalization clinical manifestations illness. If all therapeutic prescriptions help, laboratory parameters and the histological picture improves.

Therapy for sicca syndrome involves alleviating symptoms and, if necessary, combating the underlying autoimmune disease. Before treating Sjögren's syndrome, a diagnosis is required. Afterwards, as a rule, the following means are used:

• glucocorticoid Prednisolone (schedule and dosage are determined individually depending on the severity of the syndrome and the severity of its symptoms);
• angioprotectors - Parmidine, Solcoseryl;
• immunomodulator Splenin;
• anticoagulant Heparin;
• Contrical or Trasylol are drugs that stop the production of proteolytic enzymes;
• Cyostatics - Chlorobutin, Azathioprine, Cyclophosphamide (mainly recommended to be taken together with glucocorticoids).

To get rid of dry mouth, rinses are prescribed. Dry eye syndrome is treated by instilling saline solution, Hemodez. Bromhexine can help dry bronchi and trachea. Applications with Dimexide, Hydrocortisone or Heparin combat inflammation of the glands. Sometimes dry mouth when diagnosed with Sjogren's syndrome leads to the development of dental diseases. To prevent them, you need to take care of maximum oral hygiene.

Sjögren's disease - treatment with folk remedies

Dry syndrome is a whole complex of symptoms and signs. It is better to fight all of them traditionally. But sometimes with illness Sjögren's syndrome traditional methods, used in parallel, help improve the patient's condition. Some patients, for example, note that eye drops made from dill and potato juice are much more effective than pharmaceutical tear fluids.

Herbal decoction for rinsing

Ingredients:

• chamomile flowers - 1 tbsp;
• sage leaves - 1 tbsp. l.;
• water - 1 glass.

Preparation and use:

1. Mix the herbs and chop lightly.
2. Boil water and pour into the dry mixture.
3. The medicine needs to sit for 40 minutes.
4. After straining, it is ready for use.

Sjögren's syndrome - prognosis

This disease is not life-threatening. But because of it, the quality of life of patients noticeably worsens. Treatment helps prevent complications and preserves the ability of adults to work; Sjögren's syndrome is extremely rare in children. If therapy is not started, the disease can develop into a severe form, which, when secondary infections, such as bronchopneumonia, sinusitis or recurrent tracheitis, sometimes leads to disability.

What is Tourette's syndrome, why does it appear, what symptoms occur during attacks? Diagnosis and treatment generalized tic various methods. Is it possible to prevent a hereditary disease?

The content of the article:

Gilles de la Tourette syndrome (generalized tic) is a hereditary disease, the first symptoms of which begin to appear in childhood. The genetic disorder is caused by a dysfunctional nervous system, causing the patient to experience multiple motor tics accompanied by vocal manifestations.

Description and mechanism of development of Tourette's syndrome

Generalized tic is quite rare - it is currently diagnosed in 0.05% of the population. The etiology of the disease has not been fully studied by modern medicine. The specific gene that causes neuropsychiatric disorders has not yet been identified, however, it has been established that the probability of inheriting Tourette syndrome is 50%, but this does not mean that the disease will necessarily manifest itself. Boys get sick more often than girls, approximately 70-80%.

External factors cannot provoke the development of the disease, but they aggravate its course. TO external factors include infectious diseases, in particular caused by the introduction of streptococcal infection. This is explained by damage to the brain by pathogenic microflora of this type.

In people with Tourette's syndrome greatest number Negative manifestations are recorded in adolescence; by the age of 20, the disease regresses in 90% of patients. In 10% of patients, the condition worsens and can cause disability and cause disability.

Multiple tics are not always diagnosed with Tourette's syndrome. The disease requires numerous diagnostic measures. Similar manifestations are called tourettism, and treatment is carried out according to other therapeutic regimens.

Causes of Tourette's syndrome

Increase the likelihood of Tourette's syndrome:

• Unfavorable course of pregnancy, during which a woman has to experience frequent stress, late toxicosis, take anabolic steroids;
• Alcohol and drug abuse by the expectant mother;
• Intrauterine fetal hypoxia;
• Birth injuries;
• Infection of an infant with streptococcal infection;
• Intoxication, regardless of the cause;
• Lack of magnesium, which comes from food, or impaired absorption.

Main signs of Tourette's syndrome

Tics can be classified as motor - simple and complex, vocal. Simple motor muscles involve muscles of one group. They can be characterized as stretching of the lips, clicking and grinding of teeth, blinking or knitting of eyebrows, involuntary flapping of arms or legs.

Complex tics are movements that result in pronounced grimaces, involuntary jumping, touching certain parts of the body, hitting the head on objects, convulsions, which can cause the patient to harm himself. Characteristics of tics: monotony, lack of rhythm, awareness of what is happening, the possibility of short-term volitional suppression. In the future, patients can explain their movements as a feeling of sand in the eyes, heaviness and tension in the limbs, the appearance foreign body or a loud sound under the vault of the skull, etc.

Vocal tics can be expressed as auditory noises - grunting, coughing, using entire phrases or sentences. The following types of vocal tics are distinguished:

1. Coprolalia is the involuntary shouting at the peak of excitement of abusive, sometimes obscene words that are completely irrelevant to the situation, but allow you to express aggression.
2. Echolalia - repeating other people's words, phrases, passages from read works that are not related to the situation.
3. Palilalia is the repeated repetition of one word.

Types of Tourette's syndrome

• 1st degree - mild manifestation. The patient manages to control his condition and suppress the manifestation of symptoms. Tourette's syndrome is in remission.
• 2nd degree - moderate manifestations. Remission is not observed, the manifestations are noticeable to others, but the ability to self-control remains.
• 3rd degree - pronounced. The patient is unable to control his behavior.
• Grade 4 - severe. Symptoms of the disease: complex motor tics, pronounced vocal manifestations.

Diagnosis of Gilles de la Tourette syndrome

It is necessary to dynamically observe changes in urine tests - according to Zemnitsky and general, blood tests - detailed, biochemistry. For rent specific tests urine for metabolites. Hardware examinations are required: cardiogram, neurosonography, CT or MRI, electroneurography - assessment of conduction speed nerve impulses.

How to treat Tourette's syndrome is determined after comparing the results of comprehensive examinations. Indications for them are manifestations of the symptom complex during the year.

Features of the treatment of generalized tics

Grade 1-2 Tourette syndrome does not require use medications, however, this does not mean that the patient will be able to cope with the disease on his own. In this case, it is necessary to work with a psychologist or psychotherapist and explain to parents the peculiarities of behavior when raising a sick child. 3-4 degree manifestations of a generalized tic require prolonged and constant admission medical supplies.

Self-help steps to combat Tourette's syndrome

Necessary:

1. Take care of improving the family moral atmosphere - do not shout in front of the child, do not sort things out, protect him from communicating with people who may be unpleasant;
2. Create conditions in the living room that exclude the possibility of injuring yourself during an attack, do not leave piercing or breaking objects within reach, limit the number of sharp corners;
3. Adjust your daily routine - limit watching TV and playing with gadgets, try to avoid being alone for long periods of time, and go to bed at a certain time;
4. Avoid overexcitation - limit outdoor games, reading books with exciting plots.

It is very important to understand that you should not make comments when you have vocal tics, as this can aggravate the severity of the symptoms.

Children suffering from Tourette's syndrome require increased attention and special guardianship.

Help from a psychologist in the treatment of Tourette's syndrome

Therapeutic effects are prescribed to each patient individually. The following techniques may be used:

• Psychotherapy. Impact on the psyche through a deep personal contract based on the patient’s complete trust in the doctor. When treating young children, psychotherapists may use game uniform supply of information.
• Hypnotherapy. The patient is put into a trance and attention is focused on a specific problem.
• Autotraining. This is a self-hypnosis technique that helps relieve muscular and emotional stress on your own and correct your well-being. Used to treat patients starting in adolescence.

Treatment of Tourette's syndrome with medications

IN inpatient conditions The following medications can be used to treat patients:

1. Neuroleptics - Haloperidol, Risperidone, Truxal and the like;
2. Alpha adrenergic agonists - Mezaton, Guanfacine, Clonidine;
3. Tricyclic antidepressants - Azafen, Amitriptyline, Desipramine;
4. Dopamine blockers or prokinetics - Metoclopramide, Sulpiride, Bromoprid.

Treatment is complemented by the administration of a vitamin-mineral complex with a predominance of B vitamins and high content magnesium

Treatment of Tourette's syndrome with surgical methods

However, after 4-8 years, signs of the disease reappear, and stable remission has not yet been achieved. In addition, the operations are very serious, there is a risk of developing side effects very tall. Brain operations can only be performed by highly qualified surgeons.

All drugs used to treat generalized tics have pronounced side effects. These drugs are available by prescription only. Under no circumstances should you self-medicate - this can lead to a significant deterioration of the condition.

Prevention of Tourette's syndrome

However, there are measures that can help reduce the risk of symptoms:

• Balanced nutrition when planning pregnancy and during it;
• Eliminating the possibility of developing stressful situations;
• Complete refusal of stimulating activities - watching films with heavy plots, attending concerts, long journeys and flights.

Tourette syndrome has no effect on life expectancy.

How to treat Tourette's syndrome - watch the video: