Early diagnosis of Down syndrome: common misconceptions and statistics

WHAT IS DOWN SYNDROME

Normally, the human chromosome set contains 23 pairs or 46 chromosomes. But under certain conditions, 21 pairs are capable of mutating (more often tripling), leading to a genetic defect. This is what is called Down syndrome.

The first time manifestations of the disease were recorded in 1866 by a doctor from England, John Down. His name gave the syndrome its name. However, the relationship between the disease and chromosome pairs was established only in the 50s of the 20th century.

Wikipedia interprets this concept as a genomic disorder in which the karyotype contains 47 chromosomes instead of the usual 46. This happens because 1 of 23 pairs of chromosomes - 21, has 3 copies instead of two.

But this interpretation includes the most common type of defect - trisomy 21 pairs, which develops in all cells of the body. This is the most severe type of disease with pronounced pathologies.

Another variant of the syndrome is Robertsonian translocation. It is found a little less frequently than the first option. With it, 21 pairs are not tripled, but, on the contrary, its chromosomes are glued together, and the total number of chromosomes is 45.

And finally, another type of pathology is mosaic Down syndrome. Its peculiarity is manifested by the fact that the notorious pair of chromosomes is tripled, but the pathology affects only part of the cells.

Down syndrome is a genetic disease that causes mental retardation, delayed physical development, and congenital heart defects. In addition, it is often accompanied by dysfunction of the thyroid gland, impaired hearing, and vision.

Down syndrome is the most common disorder caused by a chromosome abnormality. As the mother ages, the risk of having a child with Down syndrome increases.

The disease has no cure and its severity may vary.

Treatment depends on the manifestations of the disease. Although it is impossible to get rid of the syndrome itself, working with a defectologist from an early age contributes to the development of the child’s mental functions.

Synonyms Russian

Trisomy on chromosome 21, Trisomy G.

English synonyms

Down Syndrome, Down's syndrome, Trisomy 21.

Symptoms

Children with Down syndrome may have specific facial features and head structure:

• small head,
• wide face,
• short neck, excess skin on the back of the neck,
• short and wide nose
• underdeveloped upper jaw,
• light gray spots on the iris of the eyes until the 12th month of life,
• epicanthus - a semilunar skin fold in the inner corner of the upper eyelid - the “third eyelid” - and, as a consequence, a narrow, Mongoloid shape of the eyes,
• small, asymmetrical, low-set ears,
• large tongue without a central groove, often open mouth,
• incorrectly positioned teeth.

The following symptoms are also characteristic of patients with Down syndrome:

• low muscle tone,
• disproportionate physique,
• underdevelopment of sexual characteristics,
• wide short palms with one fold instead of two, the thumb is located low in relation to the other fingers,
• sandal-shaped gap between the first and second toes,
• relatively short, overly flexible fingers.

Children with Down syndrome usually develop more slowly than normal. They begin to sit, crawl and walk about twice as late as typically developing children.

Patients also have a moderate degree of mental retardation.

General information about the disease

Down syndrome is a genetic disorder caused by an abnormality of chromosome 21 that causes mental retardation, heart defects, and developmental disorders.

It is often accompanied by dysfunction of the thyroid gland, hearing and vision impairment.

There are 23 pairs of chromosomes in the human chromosome set. In this case, one chromosome from a pair comes from the mother, one from the father. There are a total of 46 chromosomes in the body.

The cause of Down syndrome is an abnormality of chromosome 21, which is characterized by the presence of additional copies of genetic material on chromosome 21 in the form of trisomy or translocation. The 21st chromosome affects almost all organ systems and is responsible for the traits and developmental features that are impaired in Down syndrome.

• Trisomy 21 involves the presence of a copy of this chromosome. That is, instead of two chromosomes, the 21st pair is represented by three. Thus, in all cells of the body there are three chromosomes of the 21st pair instead of two.

Trisomy accounts for 95% of cases of chromosome 21 abnormality. It occurs when cell division is disrupted during the formation of reproductive cells (sperm and eggs) of the parents. Almost always, the extra chromosome is passed on to a child with Down syndrome from the mother. As the mother's age increases, the risk of having a child with Down syndrome increases. The older the egg, the greater the likelihood of improper cell division.

• The mosaic version of the syndrome occurs when only some cells of the body have an abnormal copy of the 21st chromosome. The “mosaic” of abnormal and normal cells is caused by a violation of cell division after fertilization in the embryo.
• Translocation of the 21st chromosome to other chromosomes (usually to the 15th or 14th). Children have two pairs of chromosomes 21 and additional material from chromosome 21. In this case, part of the 21st chromosome moves to another when chromosome division is disrupted during the formation of sperm and eggs of the parents (about 25% of translocation cases) or at the time of conception (about 75% of cases).

Thus, Down syndrome is caused by a violation of cell division during the development of an egg, sperm or embryo.

Down syndrome is not a hereditary disease, although there is a predisposition to its development. Women with Down syndrome have a 50% chance of giving birth to an affected child, and spontaneous abortion often occurs. Men with Down syndrome are infertile, with the exception of the mosaic variant of the syndrome.

Carriers of a genetic chromosome translocation will also have an increased likelihood of having a child with Down syndrome. If the carrier is the mother, the child with Down syndrome is born in 10-30%, if the carrier is the father - in 5%.

Women who have a child with Down syndrome have a 1% chance of having a second affected child.

Children with Down syndrome may experience the following complications.

• Heart defects. About half of children with Down syndrome are born with heart defects, which may require surgery in early childhood.
• Leukemia (malignant disease of the hematopoietic system). Children with Down syndrome, especially at an early age, are more likely to develop leukemia than other children.
• Infectious diseases. Due to disorders of the body's immune system, children with Down syndrome are more susceptible to infectious diseases.
• Dementia. After age 40, people with Down syndrome have an increased risk of developing dementia.
• Sleep apnea. Children with Down syndrome are predisposed to sleep apnea, a condition in which ventilation to the lungs stops for 20-30 seconds during sleep. In severe cases, apnea can occupy up to 60% of all nighttime sleep. Regular apnea leads to daytime sleepiness, memory impairment, decreased intelligence, decreased performance, and constant fatigue.
• Obesity.

The life expectancy of people with Down syndrome depends on the severity of the manifestations and averages 50 years or more.

Who is at risk?

• Women with Down syndrome (men with Down syndrome are usually infertile).
• Mothers after 30 years. With age, the risk of having a child with Down syndrome increases: by the age of 35 it is 1 in 400, by 45 it is 1 in 35. However, approximately 80% of children with Down syndrome are born to mothers under 35 years of age.
• Fathers over 42 years old.
• Carriers of genetic chromosome translocation. If the mother is the carrier, the risk of having a child with Down syndrome is about 10-30%, if the father is about 5%.
• Parents who already have a child with Down syndrome. The risk of having another child with this condition is approximately 1%.

Diagnostics

The diagnosis is made based on the characteristic clinical picture. Newborns are tested for Down syndrome. Pregnant women are also prescribed tests aimed at identifying Down syndrome in the fetus.

Down syndrome is suspected based on the presence of appearance features characteristic of this disease. The diagnosis is confirmed by karyotyping - examining the child’s chromosomes for abnormalities.

In addition, functions that may be impaired in Down syndrome are examined - thyroid function, visual and auditory analyzers. Possible heart defects and leukemia are identified.

• Thyroid-stimulating hormone (TSH) is a hormone produced by the pituitary gland, a small gland located in the brain. It regulates the functioning of the thyroid gland. When its function is impaired, its level usually changes.
• Thyroxine is a hormone produced by the thyroid gland and affects many types of metabolism in the body. In Down syndrome, its level may be reduced.
• Bone marrow biopsy. Examining a bone marrow sample under a microscope can detect leukemia.

In a fetus, Down syndrome can be suspected based on screening results and ultrasound data. Alpha-fetaprotein testing is recommended for all pregnant women. In addition, examination of pregnant women involves the following tests.

First trimester of pregnancy

• Human chorionic gonadotropin (hCG) is a hormone that is produced by the membrane of the embryo and is involved in maintaining pregnancy.
• Pregnancy-associated plasma protein A (PAPP A). Abnormal levels of hCG and PAPP-A may indicate abnormal fetal development.

Second trimester of pregnancy

• Ultrasound examination - allows to identify fetal development disorders.
• Alpha fetoprotein (alpha FP) – low levels may indicate Down syndrome.
• Beta subunit of human chorionic gonadotropin (beta-hCG). An increase in hCG concentration in some cases is associated with a child’s illness.
• Free estriol. Low estriol levels can be a sign of Down syndrome.

The results of ultrasound, PAPP-A, alpha-FP, hCG and estriol, combined with data on the age and heredity of the mother, allow us to calculate the risk of having a child with Down syndrome.

These studies are especially important for women at risk of having children with this disease.

If the risk is found to be very high, the following studies may be carried out.

• Amniocentesis is the removal of a sample of amniotic fluid and subsequent examination of the fetal chromosomes.
• Chorionic villus biopsy - obtaining a sample of tissue from the chorion (the outer embryonic membrane surrounding the embryo). Allows you to identify chromosomal abnormalities.
• Umbilical cord blood collection - allows you to identify chromosomal abnormalities. The test is carried out if previous studies have been ineffective.

For women with a predisposition to the disease, genetic counseling is recommended when planning pregnancy.

Treatment

Down syndrome cannot be cured, so therapy is aimed at specific manifestations of the disease.

If necessary, surgical operations are performed to treat heart defects, anomalies of the gastrointestinal tract, examination by a neurologist, cardiologist, ophthalmologist, defectologist, speech therapist, pediatrician, etc.

Early treatment will maximize the abilities of children with Down syndrome and improve their quality of life. Immediately after birth, it is extremely important to develop the child’s motor, cognitive sphere, and his mental functions. There are special preschool and school institutions where a program has been developed for children with the appropriate level of intelligence.

Prevention

Prevention of the birth of children with Down syndrome has not been developed. People who are at risk of having a child with this disease are recommended to undergo genetic testing when planning a pregnancy.

Recommended tests

• Free beta subunit of human chorionic gonadotropin (beta-hCG free)
• Pregnancy-associated plasma protein A (PAPP A)
• Alpha fetoprotein (alpha FP)
• Free estriol
• Thyroid-stimulating hormone (TSH)
• Free thyroxine (free T4)
• Total thyroxine (T4)

Literature

• Dan L. Longo, Dennis L. Kasper, J. Larry Jameson, Anthony S. Fauci, Harrison's principles of internal medicine (18th ed.). New York: McGraw-Hill Medical Publishing Division, 2011.

MOSAICISM - GENERAL CHARACTERISTICS

The mosaic form of Down syndrome is also called mosaicism. This is the rarest type of this disease, which occurs in two out of a hundred cases. It is characterized by less pronounced symptoms, that is, we can say that this is a mild degree of the disease.

It develops at the earliest stage of embryo formation, which is why not all cells are involved in the process. This feature of this type of pathology significantly complicates its diagnosis.

The severity of this type of syndrome depends on which tissues and how many are involved in the process.

Children with the mosaic form of Down syndrome are able to develop quite normally, their appearance can be quite harmonious. But there are some special signs of pathology.

Some difficulties in such children develop at an early age. During this period, children experience a lag in psychomotor development. As they grow older, these defects are smoothed out, and the mental development of such people is not much different from the average. However, they have a peculiar perception of the world around them and nuances of speech, but similar features are also found in ordinary individuals.

Pathogenesis

The causes of Down syndrome remained unknown until the mid-twentieth century. There was only a theory about the likely influence of genetic and hereditary factors. Only in 1959 was it determined that the occurrence of this disease is associated with trisomy of the 21st chromosome.

It is trisomy on the 21st pair of chromosomes that underlies the disease in most cases. In this case, the important aspect is how many chromosomes a person with Down syndrome has. In this case, instead of two chromosomes (normal), there are three, and as a result, 47 chromosomes are contained in all cells. It is believed that the occurrence of an extra chromosome is associated with chromosome nondisjunction at the time when the female reproductive cell matures. In a third of cases, the pathology is associated with nondisjunction of chromosomes in the male reproductive cell.

In approximately 2-3% of cases, a mosaic form of Down syndrome is observed. Chromosomal mosaicism occurs when in some cells the set of chromosomes is normal and consists of 46 chromosomes, and in others - from 47 chromosomes with an extra 21st. Genetic mosaicism can lead to different manifestations, depending on the number of cells in which the abnormal chromosomal composition is noted. In some cases, the mosaic form appears only in relatively minor manifestations.

According to statistics, in 88% of cases an additional chromosome is acquired from the mother, in 8% - from the father. In other cases, Down syndrome is a consequence of errors that occurred during cell division after fertilization.

CAUSES AND CONTRIBUTING FACTORS

There are several reasons why mutation of chromosome pair 21 occurs:

• pathological zygotic division;
• chromosomal discrepancies during mitosis;
• recombination of chromosomes;
• inheritance from parents.

Such pathological changes are provoked by a number of factors:

1. First of all, this is the age of the parents. It is noteworthy that the age of the father has a greater influence here. The chances of having a sick baby increase significantly after 35 years of age.
2. Incest. A child born as a result of sexual intercourse between blood relatives has a high probability of acquiring a genetic disease.
3. Alcoholism, smoking, and drug addiction lead to deformities, including at the chromosomal level.
4. Heredity, and the instigators can be not only the father and mother, but also the closest relatives. Some scientists believe that the occurrence of the syndrome is influenced by the age of the grandmother at which she gave birth to her mother.

The disease has no gender, race or geography. It is distributed throughout the globe. And diabetes, as such, is the most common genetic disease.

EXTERNAL SIGNS OF MOSAIC SYNDROME

As already mentioned, people with a similar form of the disease may not differ much in development and appearance from their peers. Among them there are even very attractive children and adults.

Although, on the other hand, many carriers of this defect have the same symptoms as with the common trisomy.

Children with mosaic Down syndrome are often short in stature and growth occurs very slowly. The limbs are disproportionate to the body and are reduced in size.

In 90% of cases, such people have a flat face and brachycephaly - a shortened skull with a flat back of the head. The neck is usually short with a thickened skin fold. A similar sign is noticeable already in the neonatal period.

Characteristic facial features in people with a similar defect are a flat bridge of the nose and a small nose; in 30% of cases, strabismus (squint) may develop.

The most striking manifestation of Down syndrome, which accompanies all its forms, is epicanthus. This concept refers to a fold of skin that hangs slightly over the inner edge of the eye. Because of this feature, Down people resemble representatives of the Mongoloid race. And that is why the discoverer of the defect initially called it Mongolism, and the patients - Mongoloids.

Other facial features include a distorted arched palate and abnormal teeth. These defects and muscle hypotonia make it difficult to close the mouth, so it is always half open. The tongue in children with the mosaic form of the syndrome is grooved. Together with the gothic palate, they make sucking difficult, which is why such a child does not gain weight well. However, for a mild degree of the disease, which is mosaicism, this is not always typical.

Brushfield pigment spots may be present on the iris and around its circumference. Another feature is abnormal ears, which are located below the eye line. They are deformed, often protrude and can cause hearing problems.

Anomalies also affect the musculoskeletal system. They are manifested by joint lability and bone deformation. For example, the sternum has a keeled shape. The pathognomonic symptom is clinodactyly or curvature of the little finger. The ribs and spine are also deformed. This is due to underdevelopment of bone tissue.

The appearance of excess skin folds is a common sign of downism. They are formed due to underdevelopment of bones, so the skin between them does not stretch well. In addition to the neck, folds across the palm and in the elbow are also characteristic.

External deformations often cause disturbances in the functioning of internal organs. Irregular bone shape, muscle hypotonia and other features lead to the following internal pathologies:

• abnormalities in the development of blood vessels and the heart;
• problems with vision and hearing;
• digestive system disorders;
• underdevelopment of the kidneys;
• hypothyroidism

Let us note once again that down people with the mosaic variant do not always have all the symptoms combined. Many of them do not appear, making it difficult to recognize the disease.

Diet

Gluten-free diet

• Efficacy: therapeutic effect after 14 days
• Terms: 4 months or more
• Cost of products: 1300-1400 rubles per week

The nutrition of a child and adult with Down syndrome should be as gentle as possible, since the disease is often accompanied by digestive disorders. In particular, such children often develop celiac disease , that is, gluten intolerance. With this disease, it is necessary to adhere to a special gluten-free diet , which is completely free of products containing gluten.

Sometimes parents need help in organizing feeding of babies with Down syndrome due to the structure of their oral cavity and nasopharynx. A lot of advice on organizing meals for such children can be found by visiting any specialized website or forum. For example, the Cape of Good Hope forum about Down syndrome contains a lot of important information.

PSYCHOMOTOR AND MENTAL DEVELOPMENT

Defects in the development of children with this syndrome appear for several reasons:

• decreased vision and hearing, due to which the child is unable to perceive information. As a result, cognitive impairment also occurs;
• muscle hypotonicity - babies begin to hold their heads up, roll over, and walk late. Motor skills suffer;
• problems with the musculoskeletal system;
• Deformation of the palate, teeth and tongue causes speech difficulties, so the speech of such people may be incomprehensible.

With the mosaic form of the disease, there may not be such defects, so these children develop quite well, their mental development practically does not suffer. Special programs are being developed for them, and parents play a big role here. His future abilities and successes depend on how well and consistently they work with their child.

Children with mosaicism are very capable of learning. They can attend regular kindergarten and school, and even do better than some of their healthy peers.

Their capabilities, abilities and development in general are very different. On forums, mothers of such children share their achievements and describe their babies with a similar syndrome in different ways.

For example, one mother says that her son, who is already 8 years old and suffers from a mosaic form of diabetes, still does not speak. Although they are undergoing rehabilitation at the appropriate center.

While another mother, whose youngest baby has this disease, claims that he is no different from the older one, even more resourceful.

Many children with mosaic type DS sublimate their defective characteristics into incredible achievements.

Aya Iwamoto is a girl with mosaicism from Japan, whose parents told about her illness only in her second year at the institute. She attended kindergarten and successfully graduated from school and university. She studied two languages: English and French, and is engaged in foreign translations. She teaches at schools and universities, took part in an international conference.

Together with her mother, she published a book about a trip to France. Regularly supports and fights for the rights of people with Down syndrome.

Raymond Hu is a guy with mosaic Down syndrome from the USA who paints pictures using ancient Chinese techniques. He creates them with watercolors and ink on rice paper.

The group of people with a similar defect includes many actors. One of the most famous such personalities is actor Pablo Pineda. He got the main role in the film “Me Too.” He is also a frequent guest on various television shows, where he covers problems of pedagogy and child development.

Jamie Bauer, who played in American Horror Story, Pascal Duquenne, Chris Burke - all these actors have mosaic Down syndrome.

People with this diagnosis find themselves in different areas of life. Tim Harris is the owner of the restaurant. Ronald Jenkins is a famous musician who tamed the synthesizer. He has no equal in electronic music. Miguel Tomasin is a popular drummer and member of the band Reynols. Karen Gafnii is a girl who goes in for swimming. She became the first to cover a distance of 15 km. The water reached a temperature of +15.

Looking at such examples, it is difficult to predict how a child with a mosaic form of Down syndrome will develop. One thing is clear: for him to become successful and developed, painstaking work is needed on the part of both the child and his parents.

HOW TO DIAGNOSE THE DISEASE

Down syndrome can be recognized in the prenatal period, that is, during pregnancy. As for its mosaic form, in some cases its diagnosis at this stage is difficult due to the paucity of manifestations and not all chromosomes are affected. In this case, it is revealed only after childbirth.

The disease can be detected using several methods:

1. Ultrasound diagnostics. It is performed every 3 months of pregnancy. Already in the first trimester, from 8 to 12 weeks, some signs of diabetes can be recognized. For example, thickening of the collar area.

2. In the second trimester, an ultrasound will show defects in the development of the central nervous system, digestive organs, excretory system and hearing, as well as heart defects. At the third ultrasound, the specialist will see minor developmental anomalies.

3. Maternal blood analysis. The first trimester (from 8 to 12 weeks) determines the amount of substances that the fetus produces:

• pregnancy-associated plasma protein A (PAPP-A);
• human choriogonadotropin (hCG). If the hCG level is increased and PAPP-A is decreased, this may indicate pathology;

4.The second trimester (from 18 to 21 weeks) determines the following indicators:

• alpha-fetoprotein;
• hCG;
• free estriol.

Such studies do not provide a 100% guarantee of the presence or absence of pathology. If a pregnant woman is at risk, that is, the listed tests show a non-standard result, the woman undergoes invasive procedures. They allow you to obtain fetal material to clarify the diagnosis:

• Chorionic villus biopsy - the procedure makes it possible to obtain tissue samples of the fetus. It is carried out using a puncture of the abdominal wall, as well as through the cervix with special forceps or a catheter. Carry out in the early stages of pregnancy, at 8-12 weeks;
• amniocentesis is performed between 14 and 18 weeks. A puncture of the fetal membrane is performed to collect amniotic fluid;
• cordocentesis is performed in late stages of pregnancy. Blood is collected from the umbilical cord.

These invasive methods are quite dangerous, as there is a risk of rupture of the amniotic sac, miscarriage, as well as infection of the mother and child.

How is diabetes detected - effective diagnosis during pregnancy

Currently, all pregnant women, regardless of whether they have hereditary diseases, must undergo fetal screening for ultrasound and biochemical diagnostics. The World Health Organization (WHO) recommends at least one screening procedure during the second trimester of pregnancy.

Down syndrome during pregnancy can be determined by several methods:

• Fetal screening ultrasound. The doctor measures the size of the fetal collar zone, determining the presence of subcutaneous fluid, fetal growth and other parameters characteristic of various gene-chromosomal pathologies.
• Non-invasive antenatal diagnosis - blood test using biochemical markers. Blood is taken from a vein and treated with special substances.
• Amniocentesis is the study of amniotic fluid. The technique requires intervention in the body, therefore it is classified as an invasive procedure. The liquid is taken with a thin needle through a microscopic puncture in the abdomen and sent for examination.

If you suspect diabetes, you need to undergo at least two types of diagnostics in order to be 100% sure of the presence of pathology and only after that make a decision about abortion.

Ultrasound results are analyzed together with biochemical screening data, allowing a more accurate assessment of the likelihood of genetic abnormalities in the fetus. If, according to biochemical and ultrasound screening, the risks of having a particular genetic disorder are sufficiently high, an invasive genetic analysis procedure is prescribed, which gives results with an accuracy close to 100%. Based on the results of the invasive analysis, a decision is made to terminate the pregnancy.

HELP YOUR CHILD

The mosaic version of DM, despite its milder course, requires constant work with such children. Unfortunately, it is impossible to completely get rid of the pathology, but with the help of multidisciplinary therapy, you can help the child better adapt to society and not feel deprived.

It is very important for children with Down syndrome to undergo massage and physical therapy. They will increase muscle tone and strengthen them, eliminate contractures, stabilize the functioning of joints and the entire musculoskeletal system.

Massage is indicated from 2 weeks of birth. But not all techniques can be used at this age. Kneading is not used for children under 3 months. If your baby has heart problems, you should consult your doctor about massage techniques.

Among the physical therapy methods, be sure to use ball exercises. Thanks to them, motor reflexes and coordination develop.

Swimming lessons are indicated for children with diabetes. It performs the function of hydromassage.

Particularly highlighted are such treatment methods as hippotherapy and dolphin therapy.

Hippotherapy is a therapeutic effect achieved through communication with horses. This method provides:

• development of balance and attention;
• gives self-confidence;
• the warmth that comes from the horse calms the child and gives him a feeling of security.

This is an excellent method for balancing the nervous system of people with any type of Down syndrome. But it requires certain conditions to be met:

1. It is important that the horse is big, not a pony. They are overly fussy.
2. Before you mount a horse, you need to establish contact with it: talk, feed, pet it.
3. The animal must be without a saddle or horseshoes.
4. It is not recommended to ride on asphalt.

Dolphin therapy provides relaxation and improved mood, gives self-confidence, and helps to acquire communication skills. This method also stimulates physical development. The ultrasound produced by dolphins restores normal biocurrents.

Other methods of therapy include:

• prescription of medications - hormones, psychostimulants, neurometabolites, vitamin complexes;
• consultations with a psychologist and psychotherapist;
• diet therapy - often such patients suffer from obesity, which can lead to other pathologies. Therefore, you should follow a proper nutrition system to prevent excessive weight gain;
• constant supervision by specialized specialists.

Test results for Down syndrome

“The results will be ready only in a month. If suddenly the test turns out to be positive (confirmed chromosomal malfunction), we will call you ourselves.”

I was scared to death of this call. Again I was seized with panic: “And if it is confirmed, what will I do? I can't raise a down child! But I can’t get rid of it either.” Life has become unbearable. To take a break, my family and I went on vacation to the sea for two weeks. Thoughts away.

All our relatives didn’t even know that I was pregnant. Our family (mother, father and sister) kept it a secret until the last moment.

Less than a month had passed (about 3 weeks) when I decided to call. She didn’t say anything to anyone, went outside, spun a couple of circles and pressed “call.”

— Hello, I want to know the result of the analysis. (I turned pale, my heart stopped beating.) - Margarita Valerievna? (My heart jumped out of my chest, why did she immediately recognize me, were they really going to call me?) - Everything is normal with you: the child is healthy - 46 chromosomes. Do you know who you're waiting for? - No! (I wanted to scream with joy into the phone.) “Then you’ll find out at the next ultrasound.” - No, I can’t wait, tell me! - BOY! Congratulations!

I was so happy that I was not the least bit upset by the fact that instead of Yesenia we would have Evgeniy.

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PSYCHOMOTOR DEVELOPMENT

Teaching people with Down syndrome is a very rewarding endeavor. Every achievement brings them extremely much joy. They approach this process with great enthusiasm and put in a lot of effort.

From a very early age, people with diabetes require close attention and careful work with them. Children with a mosaic form are close to normal in their development, but still have some features that need to be corrected.

It should be understood that the thinking of such children is slightly different. It is more inert, often it is difficult for such a baby to concentrate, he lacks perseverance. Therefore, the process of teaching them needs to be approached creatively, preferably in a playful way.

New information should be presented to them in short phrases, repeating them several times, since short-term memory is not sufficiently developed. But the main thing is to do it in an interesting and exciting way. Keep in mind that such students get tired faster than others, so you should take breaks during classes and alternate mental activity with physical activity.

Problems with hearing and vision also reduce the ability to perceive information and slow down the learning process. This should also be taken into account and classes should be adjusted to these features.

You should pay attention to the development of figurative and abstract thinking: clarification of statements and concepts, presentation of evidence, arrangement of objects in space, their classification, etc.

Speech in children with diabetes may be slurred and poor. This problem requires sessions with a speech therapist. This will allow the speech to be delivered correctly and make it more accessible to understanding.

It is important to develop motor skills, because it allows children to take care of themselves in everyday life. Muscle weakness reduces the ability to manipulate the palm and fingers. They should be developed. For example, you can use an exercise in which the hand is fixed on the surface of the table on the edge of the palm. In this case, drawing is performed with 3 fingers, excluding the little finger and ring finger.

You can develop brushes using various techniques:

• clench your fists, imitate a tweezer grip and in the form of a pinch. Alternately touch the thumb with all fingers;
• drawing, including finger drawing, in different planes - strictly horizontal or vertical, at an acute or obtuse angle;
• modeling from any material - plasticine, clay, dough;
• play okay;
• newspaper rip;
• turning the pages of a book;
• using improvised means - arranging buttons into different categories, collecting them on a thread, making jewelry. You can sort and pour cereals. But moderation is important here so as not to tire the little student. Manipulations with jars and lids are also applicable;
• folding mosaics and puzzles. But you should select objects suitable for the child’s age so that he can assemble them on his own;
• working with scissors, laying out appliqués. Creation of patterns;
• teach your child how to dress independently, how to handle laces, zippers, and buttons. You can train him with a doll.

By working with children in this way, you can not only teach them physical skills - it provides direct communication with the baby, stimulates his mental and mental development.

There are special methods that provide direction in teaching children with disabilities:

1. Zaitsev's method. The author has developed special cubes, tables and musical accompaniment, which are designed to teach reading skills. This, in turn, affects the quality of writing in the future and smoothes out intellectual problems.
2. Montessori method. Its essence is to create an environment in which the child will study at his own request. He chooses his own occupation from the offered range. As a rule, training is conducted in a playful way.
3. The Nikitin method is ease and freedom in learning, a relaxed atmosphere. The emphasis is on physical development and hardening. All play equipment must have an educational basis.
4. Glen Doman's method is to start learning from a very early age. Already from the age of 1 year, develop speech, teach the basics of counting and reading.
5. Cecile Lupan's method is to present information to the child in such a way as to interest him, so that he himself strives to learn. To do this, constantly offer something new, gradually stimulating him and expanding his knowledge himself. The main criteria are curiosity and independence.

Collective activities are very important, in which children reach out and focus on each other.