Types of Down syndrome. Education and development of children with Down syndrome

Chromosomes are the main components of the cell nucleus. They are the carriers of genes in which hereditary information is encoded. The totality of all the chromosomes of a cell is called the chromosome set and for each biological species characterized by its constant set. For man the normal number of chromosomes is 46 (23 pairs). Cases of altered amounts of chromosomal material are considered chromosomal abnormalities.

Chromosomal abnormalities provoke disturbances in the development of the body and the occurrence of various diseases. One of the subtypes of anomalies is trisomy. Let's consider a specific case of this pathology, namely, what trisomy 21 is, how it is diagnosed and whether it can be treated.

Trisomy 21: essence and causes

Trisomy means the presence of an additional, third chromosome in the chromosome set, at a time when the norm prescribes only a pair. Exact reasons trisomy on chromosome 21 has not been established, but the mechanism of its formation is that during cell division there is no divergence of chromosomes (usually female ones) and a cell with 24 chromosomes is formed. During the process of egg-sperm fusion, a cell with 24 chromosomes fuses with a normal cell with 23 chromosomes. As a result, a zygote is formed with 47 chromosomes (23 pairs + one chromosome), instead of 46.

In most cases, when a fetus has trisomy, it is not viable and the mother's body will try to get rid of it. Often a miscarriage occurs after such early stages that the woman does not even have time to understand that she is pregnant. However, some types of trisomy may not prevent a live birth. The most famous example of trisomy is trisomy 21, which is familiar to everyone under the name Down syndrome.

This pathology is diagnosed in one out of 700-800 newborns. Down syndrome causes a lag in intellectual development, the presence of specific external signs and susceptibility to diseases internal organs. Scientists have not established a direct relationship between the occurrence of the disease and external factors (poor environment, bad habits, etc.). However, it has been noted that the older the woman in labor, the higher the chance of being at risk for the syndrome in the fetus.

Manifestation of the disease

The high prevalence of Down syndrome has allowed medicine to describe its symptoms in detail. Most often, the diagnosis of trisomy 21 is recognized by doctors by the external signs of the baby already in the maternity hospital:

abnormalities in the structure of the skull;
eye abnormalities;
wide bridge of the nose;
oral defects;
changed ear shape, small size;
pepper fold on the palms;
deformed chest.

Children with trisomy 21

Infancy is often accompanied by feeding problems. This is due to pathologies of the oral cavity and gastrointestinal tract. The child begins to walk quite late, at 3.5–4 years. There are difficulties in acquiring speech skills. The high mortality rate of people with Down syndrome is recorded in the first five years of life, usually explained by pathologies of internal organs.

Adults with trisomy 21 retain many of the symptoms that were observed at birth: flat face, small snub nose, short thick neck. Over the years they become more pronounced. Muscle weakness forces these people to keep their mouth half open. The height of men and women with Down syndrome is 15–20 cm lower than that of healthy people. These people are also characterized by the following features: low, muffled voice, poor coordination, hunched back.

Having reached 35–40 years of age, patients begin to experience changes that indicate an acceleration of the aging process: premature appearance of wrinkles and gray hair. Due to rapid aging organism, most patients do not live to see 50 years of age.

The intellectual potential of people with trisomy 21 is quite limited. However, today it is possible to train and socialize such children. Timely intervention by specialists (speech therapist, psychologist, etc.) allows children with an extra 21 chromosome to begin writing, reading, and even learn some activity that does not require serious physical and intellectual preparation.

Trisomy 21 - congenital anomaly, the appearance of which cannot be foreseen in advance. However, the risk of its occurrence in a child can be calculated even at the moment when he is in the womb.

Diagnosis of trisomy 21

Good health parents and a favorable pregnancy is not a guarantee that the child will be healthy. There is such a thing as the basic risk of pathologies. This term refers to the proportional ratio of the number of pregnant women with the same characteristics to the number of cases of trisomy 21. To identify chromosomal abnormalities, it is important to carry out necessary diagnostics(screening) already in the early stages of pregnancy.

Already in the 1st trimester of pregnancy, a woman has the opportunity to calculate the individual risk of chromosomal pathologies in the fetus. To do this, it is necessary to conduct a number of studies, which include, first of all, ultrasonography(ultrasound) and biochemical analysis blood.

Ultrasound

This is one of the most universal and safe examinations for diagnosing trisomy. The first ultrasound usually occurs at 12 weeks of pregnancy. There are certain markers that the doctor pays attention to during the first ultrasound and which may indicate the presence of abnormalities in the fetus:

thickening of the collar area;
absence of nasal bone;
the growth and weight of the fetus lags behind the norm by 8 - 10%.

During an ultrasound scan of the second trimester, the specialist pays attention to the presence the following signs diseases:

brachycephalic head shape (short head);
increased volume of the heart ventricles;
cyst in the posterior cranial fossa;
underdevelopment of the bones of the facial structures;
additional fold on the neck;
intestinal obstruction;
heart defects;
short tubular bones of the limbs;
abnormalities of finger development;
hydronephrosis of the kidneys.

According to statistics, if 3–4 of these signs are present, the probability of confirming the diagnosis of trisomy 21 will be 15–25%. It is worth taking into account that no doctor will make a diagnosis solely based on ultrasound data. To get a complete picture, it is necessary to conduct other studies, including a biochemical blood test.

Maternal blood test

Serum markers are substances that appear in a woman’s blood at different stages of pregnancy. The concentrations of these markers have been found to be markedly increased or decreased relative to normal in those women who are pregnant with a child with trisomy 21.

In the first trimester, pregnant women donate blood to check the level of human chorionic gonadotropin (hCG) and plasma protein A (PAPP-A). In the second trimester there will be three such markers: hCG, alpha-fetoprotein (AFP), free estriol. It is advisable to check markers of the first trimester from 10 to 14 weeks of pregnancy, and in the second trimester to take an analysis between 16 and 18 weeks. The obtained indicators will be assessed relative to the norms provided for a specific week of pregnancy.

Ultrasound results and biochemical screening are always assessed in aggregate. To calculate the individual risk for trisomy 21, the following are taken into account:

Ultrasound data at 11–13 weeks;
blood test for serum markers;
individual characteristics of a pregnant woman (age, bad habits, chronic diseases).

These indicators are processed by a computer program, which calculates the likelihood that the fetus may have abnormalities. For example, the screening result of a 35-year-old pregnant woman is 1:95. These numbers indicate high risk and the need to resort to additional types of examination. To confirm or refute the diagnosis, doctors refer women at risk for invasive examinations. Depending on the stage of pregnancy, this may be: chorionic villus biopsy, amniocentesis or cordocentesis.

Each of these methods involves surgical intervention - puncture of the mother's abdominal wall in order to collect material that contains information about the DNA of the fetus (chorionic villi, amniotic fluid, umbilical cord blood). These methods are very accurate (about 99%), but not entirely safe. In some cases, they can provoke a miscarriage (probability is about 1.5%).

In the arsenal of modern medicine, among high-precision methods of prenatal diagnosis, there are safe methods, which only involve taking the mother’s venous blood. This method is a non-invasive prenatal DNA test, which is effective from the 9th week of pregnancy and can detect wide range chromosomal pathologies, one of which is trisomy 21. A detailed transcript of the test is provided to future parents within 14 days from the date of the test.

Timely detection of Down syndrome allows married couple make a responsible decision about whether they are ready to give birth to a sick child and whether the pregnancy will be continued.

Treatment of trisomy 21

Having gained an idea of what trisomy 21 is, it is natural to ask the question: is it treatable? It is impossible to completely cure the disease, but in medicine there are many ways to correct the complications of Down syndrome, which make life easier for patients:

If you have:

questions arose regarding the results of prenatal diagnostics;
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Karyotype - (from karyo. Greek káryon - nut, kernel and Greek týpos - pattern, shape, type) a set of chromosomes, a set of characteristics of chromosomes (number, size, shape) in the cells of the body of an organism of one species or another. The study is carried out during the metaphase of cell division.
A common cause of genetic infertility/miscarriage is a change in the number of chromosomes or a change in their structure. Therefore, karyotype testing is indicated (in case of infertility) for both spouses.
Chromosomes are DNA molecules packaged together with proteins necessary for DNA to function.
There are 46 chromosomes in the nucleus of all human somatic cells. Of the 46 chromosomes, 44 or 22 pairs are autosomal chromosomes, the last pair are sex chromosomes. In women, sex chromosomes are normally represented by two X chromosomes, in men - by two chromosomes X and Y. In all pairs of chromosomes, both autosomal and sex, one of the chromosomes is received from the father, and the second from the mother. The germ cells - the sperm and the egg - contain 23 chromosomes (haploid set). Sperm are divided into two types depending on whether they contain the X or Y chromosome. Eggs normally contain only the X chromosome.
About 99% of the cell's total DNA is concentrated in chromosomes; the remainder of the DNA is located in other cellular organelles (for example, in mitochondria). DNA in the chromosomes of eukaryotes is in complex with the main proteins - histones and with non-histone proteins, which ensure the complex packaging of DNA in chromosomes and the regulation of its ability to synthesize ribonucleic acids (RNA).
Appears in literature every year a large number of descriptions of new genetically determined anomalies. According to some data, more than 2000 hereditary syndromes in humans are known. According to statistics, about 0.7% of children are born with multiple developmental defects. Karyotype disorders are often accompanied by developmental defects that are incompatible with life, resulting in intrauterine fetal death and abortion. However, some defects in the karyotype allow the fetus to be carried to term and the child is born with the inherent phenotypic and genotypic characteristics for a particular disease or syndrome. The main karyotype anomalies include: Down syndrome, Shereshevsky-Turner, Edwards syndrome, Klinefelter syndrome.
Chromosomal abnormalities are detected in at least 10% of fertilized eggs and in 5-6% of fetuses. Spontaneous abortion with chromosomal defects is usually recorded at 8-11 weeks of pregnancy (later spontaneous abortions and stillbirths are possible). Based on the results of examinations of 65,000 newborns conducted in different laboratories, significant chromosomal aberrations or changes in the number of chromosomes are detected in approximately 0.5% of children. At least 1 in 700 children have trisomy 21, 18 or 13; approximately 1 in 350 newborn boys have a karyotype of 47,XXY or 47,XYY; one child for every several thousand newborns has monosomy on the X chromosome; One in 500 has chromosomal aberrations, most of which are genetically compensated. When examining adults, heritable compensated chromosomal aberrations are occasionally detected, as well as a number of people with karyotypes 47,XXY, 47,XYY and 47,XXX. With mental retardation, chromosomal abnormalities are found in 10-15% of patients, and even more often with concomitant anatomical defects. Men suffering from infertility or behavioral disorders often have an extra X or Y chromosome. In women with infertility and reduced fertility, X chromosome aberrations or X chromosome monosomy are often found. In primary amenorrhea, X chromosome aberrations are found in approximately a quarter of women. Chromosomal aberrations are often found in infertility in both men and women.
The most common chromosomal mutations include trisomy. Trisomy is the appearance of an additional chromosome in the karyotype. The most famous examples are Down's disease, which is also called trisomy 21. Trisomy on chromosome 13 is Patau syndrome and on chromosome 18 is Edwards syndrome. These trisomies are autosomal. Other autosomal trisomics are not viable and die in utero. Individuals with additional sex chromosomes are viable. Sex chromosome trisomy can be of three types - 47,XXY; 47,XXX; 47,XYY (trisomy 47,XXY, known as Klinefelter syndrome). Clinical manifestations of additional X or Y chromosomes may be minor. Trisomies 47,XXY and 47,XYY occur with a frequency of 1:1000 among women and men, respectively, and are relatively minor phenotypic manifestations and are usually discovered as incidental finds.

Down syndrome (synonyms: trisomy 21, G 1 trisomy).
Described by Down JLH in 1866. One of the most common congenital human diseases (1 in 660 newborns according to Penrose L.S., Smith G.F. 1966). Distinctive features - mental retardation, muscle hypotonia, flat face, Mongoloid eye shape, small ears. The probability of chromosome nondisjunction in female germ cells increases with maternal age. The frequency of birth of a sick child in women 15-29 years old is 1 in 1500 births, 30-34 years old - 1 in 800, 35-39 years old - 1 in 270, 40-44 years old - 1 in 100, after 45 years - 1 in 50.
Down syndrome is caused by trisomy on all or most of chromosome 21. Based on generalized research data, the relative frequency of chromosomal aberrations for this syndrome is as follows: 1. Complete trisomy on chromosome 21 - 94%; 2. Mosaicism, combining trisomy with a normal set of chromosomes - 2.4%; 3. Translocation of the 21st chromosome or most of it to chromosomes of group D or G (with approximately the same frequency) - 3.3%. Mosaicism causes less severe manifestations, mental development is delayed, or may not be impaired, which cannot be predicted by appearance. Mosaicism is the existence in an organism of two or more genetically different types cells. Well-developed children with an appearance consistent with Down syndrome are likely to have mosaicism, which is sometimes not easy to confirm. The average IQ in affected adolescents and adults (according to some estimates) is 24.
According to statistics, in 1983 patients with Down syndrome lived on average to 25 years, and in 1997 to 49 years. To the root cause early death include congenital heart defects, as well as respiratory diseases, leukemia. There is a weakening of humoral and cellular immunity. From concomitant diseases The most common are rhinitis, conjunctivitis, and periodontitis that are difficult to treat.

Edwards syndrome (synonyms: trisomy on chromosome 18, E 1 - trisomy).
First described by Edwards JH in 1960. The second most common syndrome of multiple developmental defects. Occurs with a frequency of 1 in 3000 newborns (3 times more affected girls are born than boys). More than 130 symptoms of this chromosomal abnormality have been described. Distinctive features are clenched fists with overlapping fingers, a short sternum, and an arched skin pattern on most fingers.
Edwards syndrome is caused by trisomy of chromosome 18 or a large part of it. Most patients have complete trisomy, due to the incorrect segregation of chromosomes during meiosis. The likelihood of such a discrepancy increases with maternal age. The mosaic form of trisomy on chromosome 18 is easier than complete trisomy. The phenotype ranges from almost normal to advanced forms of the disease. The partial form manifests itself differently, depending on which part of the chromosome is duplicated. Short arm trisomy is accompanied by a blurred clinical picture with normal mental development or mild mental retardation. Children with this syndrome are born weak, half of the children die in the first week of life, few survive to a year. The average life expectancy is 14.5 days, children surviving a year (5-10%) suffer from severe mental retardation. Known isolated cases survival of children over 10 years.

Patau syndrome (synonyms: trisomy on chromosome 13, D 1 - trisomy).
Patau K was first described in 1960. Occurs with a frequency of 1 in 5000 newborns. Distinctive features are malformations of the eyes, nose and upper lip, prosencephalic defects, polydactyly, long convex nails, focal aplasia of the scalp.
The syndrome is caused by trisomy on chromosome 13 or a large part of it. The mosaic form of trisomy is usually milder, with varying severity of symptoms and degrees of mental retardation. Life expectancy is higher. Trisomy of the short arm and proximal part long shoulder Chromosome 13 manifests itself with nonspecific symptoms and usually severe mental retardation. Trisomy on the distal part of the chromosome is manifested by profound mental retardation and death in the early neonatal period.
Half of children die in the first week after birth and only one in ten survives one year.

Turner syndrome (synonyms: sexogenic dwarfism, XO syndrome, X-chromosome monosomy syndrome, Ullrich syndrome, Shereshevsky-Turner syndrome).
Described in detail by Turner HH in 1938. Rossle RI was first spotted in 1922. Occurs with a frequency of 1 in 2500 newborn girls. Distinctive features are short stature, wide chest, nipple hypertelorism, congenital lymphatic edema of the hands and feet.
The cause of the syndrome is the nondisjunction of chromosomes in meiosis with the formation of the 45,XO karyotype. One of the two X chromosomes is missing completely or partially. Most often the paternal chromosome is missing.
The most common manifestations of the disease are short stature and gonadal dysgenesis (underdevelopment or complete absence follicles, ovarian atrophy). Since dysgenesis does not manifest itself until puberty, a cytogenetic examination can be recommended for girls with growth retardation in the absence of symptoms that exclude Turner syndrome. The mosaic form of the disease - karyotype 46,XX/45,XO or 46,XY/45X and incomplete monosomy on the X chromosome (isochromosome X or deletion of part of the X chromosome) often occurs in a mild form. It is advisable to carry out a cytogenetic study for all girls who, by the age of 13, lack thelarche and adrenarche, and also have primary or secondary amenorrhea with increased content FSH. It has been shown that during intrauterine development the ovaries develop normally, however, primordial follicles apparently do not form and the ovaries subsequently atrophy.
Growth retardation in girls is sometimes noticeable at birth. Before 3 years the child grows normally, but with a delay in the maturation of bone tissue, and from 3 to 12 years, on the contrary, bone tissue matures normally, but growth is slow. After 12 years, the growth and maturation of bones slows down, and a tendency to become overweight appears. Untreated height is (on average) 143 cm. Due to developing ovarian atrophy, such women are infertile.
There is an increased incidence of aortic dissection in adults with Turner syndrome. Increased incidence arterial hypertension, diabetes mellitus, arterial hypertension, stroke. 6% of girls have a mosaic karyotype - 45, XO / 46, XY and they have a significantly increased risk of gonadoblastoma.

Klinefelter syndrome (synonyms: XXY syndrome, syndrome 47, XXY, Klinefelter-Reifenstein-Albright syndrome).
Described by Klinefelter HF in 1942. Occurs with a frequency of 1 in 500 newborn boys. Distinctive features: hypogonadism, long legs, decreased intelligence, behavioral disorders.
The manifestation of the syndrome is associated with the presence of an additional X chromosome in the male karyotype. The reason, in approximately half of the cases, is the nondisjunction of chromosomes in the 1st division of meiosis during spermatogenesis, the other half is a violation of oogenesis, and in a small number of cases, a violation of mitosis in fertilized cells. The older a man gets, the more often he has sperm with both sex chromosomes, i.e. the risk of having a child with Klinefelter syndrome should be higher.

The syndrome is the most common cause of male hypogonadism and infertility.
Since childhood, such patients are characterized by a eunuchoid physique - tall stature, disproportionately long limbs, long legs. Speech development is delayed, mental infantilism, uncertainty, or vice versa, self-confidence, impaired judgment are manifested. The penis and testicles have been relatively small since childhood; testosterone synthesis, with rare exceptions, has been reduced by half. Secondary signs are poorly developed; a third of adolescents have gynecomastia. Rare symptoms of Klinefelter syndrome include: cryptorchidism, scoliosis, diabetes, chronic bronchitis, mild ataxia, trophic ulcers shins, varicose veins, deep vein thrombosis, osteoporosis, breast cancer (20 times more often), extragonadal tumors (more often at the age of 15-30 years), autoimmune diseases.
In childhood, symptoms are minimal; the clinical picture develops during puberty and postpuberty and reflects the degree of androgen deficiency. In the mosaic form of the syndrome (46,XY/47,XXY), the disease proceeds more easily with less damage to the testicles. A variant of Klinefelter syndrome, XXYY syndrome is characterized by more severe mental retardation and severe behavioral disorders.

XXX and XXXXX syndromes (synonyms: polysomy on the X chromosome, XXX syndrome - triplo-X syndrome, trisomy X syndrome, XXXX syndrome - tetrasomy X syndrome, tetra-X syndrome).
XXX syndrome was described by Jacobs PA et al. in 1959. Karyotype 47.XXX occurs with a frequency of 1 in 1000 newborn girls.
The manifestation of the syndrome is associated with the presence of an additional X chromosome (one or two) in the female karyotype. The cause of XXX syndrome is mainly the nondisjunction of chromosomes during the 1st division of meiosis. These patients are often impaired motor speech, auditory memory is weakened, the acquisition of motor skills occurs with a delay, poor coordination of movements and clumsiness are typical. IQ is reduced (80 -90). A third of adolescents have behavioral disorders - withdrawal, antisocial behavior, mild depression. Over time, these disturbances disappear. Puberty happens normally.

XXXX syndrome was described by Carr DH et al. in 1961.
This syndrome's clinical manifestations are characterized by mental retardation. Height is normal or tall. Facial features resemble Down syndrome. IQ is reduced (average 55). Characteristic is a delay in the development of speech and behavior. These patients often have problems menstrual cycle and reduced fertility, but their children are usually healthy.

XXXXX syndrome (synonyms: X-chromosome pentasomy syndrome, penta-X syndrome).
XXXXX syndrome was described by Kesaree N and Wooley PV in 1963. Distinctive features: Mongoloid eye shape, open arterial eye shape, small palms, clinodictal of the fifth finger.
The syndrome is caused by the presence of three additional X chromosomes in the karyotype of women. Extra chromosomes come from the mother.
Clinical manifestations of this syndrome are characterized by mental retardation, growth retardation, short stature, microcephaly, slightly Mongoloid eye shape, sunken bridge of the nose, short neck, low hairline, malocclusion, congenital heart defects - open mitral valve disease, defect interventricular septum. IQ ranges from 20-75.

Syndrome cat eye(synonyms: iris colomb syndrome and atresia anus, Schmid-Fraccaro syndrome).
Distinctive features: iris colombus, antimongoloid eye shape, anal atresia.
In such patients, an extra chromosome is found, consisting of two identical sections of the 22nd chromosome, containing the entire short arm along with satellites, the centromere and the short part of the long arm. Those. this section is present in 4 copies. Sometimes the disease is caused by duplication of the 22q11 segment.
Iris colombus and anal atresia, as the main symptoms of the disease, are present simultaneously in only 9% of cases. The disease is characterized by: mild mental retardation, sometimes delay emotional development with normal intelligence, slight hypertelorism of the eyes, inferior colombus of the iris or retina, anti-Mongoloid eye shape, preauricular fossae, ear pendants, congenital heart defects in more than a third of patients (complete anomalous confluence of the pulmonary veins, atrial and interventricular septal defects), anal atresia in combination with rectal fistulas, hypospadias, hydronephrosis, renal agenesis, vesicoureteral reflux. Rare symptoms include: microcephaly, hearing loss, stenosis of the external ear canal, atresia bile ducts, cleft palate, polycystic kidney disease, Meckel's diverticulum and others.

Trisomy syndrome on chromosome 8.
The first works describing the syndrome date back to 1963.
The syndrome is caused by trisomy on chromosome 8, as a rule, it is mosaic trisomy; complete trisomy, apparently, is rarely compatible with life.
Clinical manifestations of this syndrome are characterized by: mental retardation varying degrees heaviness, long narrow body, height from short to high, abnormalities of the shoulder blades and sternum, short neck, narrow pelvis, dysplasia hip joints, malformations of the heart, kidneys, ureters, poor coordination of movements, convex forehead, deep-set eyes, wide bridge of the nose, wide nostrils, plump lips, inverted underlip, inferior micrognathia, narrow high palate/cleft palate, large cupped ears with thick helix, camptodactyly of 2-5 fingers and toes, incomplete supination at the elbow joint, deep palmar and plantar grooves, contractures large joints, abnormal nails.
Rare symptoms include: patellar aplasia, forked hair, conductive hearing loss, abnormal vertebral structure (vertebral bifida, accessory lumbar vertebra), scoliosis, cryptorchidism, jejunal duplication, agenesis of the corpus callosum, germ cell tumors, leiomyosarcoma of the stomach.
The prognosis of the disease is determined by the severity of mental retardation.

For the first time, the English doctor Down was identified as an independent nosological unit in 1866. called "Mongoloid idiocy". The etiology of the disease was established almost a century later - J. Lejeune and co-authors (1959) discovered an additional 21 chromosome in such patients.

Minimum diagnostic signs: mental retardation, muscle hypotonia, flat face, Mongoloid eye shape, trisomy 21.

Down's disease is the most common form of human chromosomal pathology. Population frequency 1: 700.

The clinical manifestations of Down disease are based on the following cytogenetic disorders: simple trisomy (94% of all forms of the syndrome), translocations (4%), mosaicism (2%).

The main diagnostic signs and clinical picture of the disease are so typical and well described in the literature that the diagnosis is established already in the neonatal period. According to various authors, Down syndrome occurs from 9 to 29 minor developmental anomalies and malformations.

Brachycephalic skull with a smoothed occiput and flattened face, oblique eye shape (Mongoloid), epicanthus, Brushfield spots (light spots on the iris), hypertelorium, widened and flattened bridge of the nose, small low-set ears (microotia), hypoplasia of the upper jaw, macroglossia (large tongue), "sulcated" tongue, high palate, irregular teeth growth, short neck, wide hands, clinodactyly of the little fingers, sandal-shaped gap on the foot. Quite often, signs of underdevelopment of the external genitalia (cryptorchidism, hypoplasia of the penis and scrotum), umbilical and inguinal hernias, and separation of the rectus abdominis muscles are detected.

Of the defects of internal organs, the most typical are those of the cardiovascular system and digestive organs, and less commonly, defects of the urinary system.

Dermatoglyphic features in Down's disease: often a transverse palmar fold, one flexion groove on the fifth finger, distal location of the axial triradius.

Mental retardation and delayed statomotor functions are found in almost all patients.

Other less significant signs are muscle hypotonia, loose joints, and a hoarse voice.

The diagnosis of Down's disease is made on the basis of a thorough clinical and karyological examination. Karyological confirmation of Down's disease has not only diagnostic, but also medical and advisory value.

The vital prognosis for Down syndrome is determined by the presence of malformations of the cardiovascular system and digestive tract, infections respiratory tract(congenital immunodeficiency), blood diseases (leukemia) and malignant neoplasms to which these patients are prone. The average life expectancy is about 37 years.

TREATMENT. Early / from 2 months / psycho-pedagogical adaptation . Sidnocarb /10-15 mg/day/, aminalon -250 mg/day, encephabol -100-150 mg/day, piracetam/nootrapil/ - 400-800 mg/day . ,vitamin therapy, ATP. Thyroidin -0.2 mg/day. Massage, gymnastics. Surgical correction. Immunomodulatory drugs.

Medical genetic counseling.

For a married couple with a child with Down syndrome, the risk of having another sick child is increased and depends on the cytogenetic variant of the syndrome and the age of the spouses. In the case of simple trisomy and the age of the parents is 25-35 years, the repeated risk is no more than 1%. As the age of the parents increases, the risk increases. The risk of having a child with Down syndrome depends on the age of the mother. After 35 years, the risk of having a sick child is very high, which requires mandatory invasive prenatal diagnosis.

Dependence of the frequency of births of children with Down syndrome on the age of the mother.

If a translocation variant of Down's disease is detected in a patient, then the karyotype of the parents must be examined for the purposes of medical genetic counseling. Identification of a balanced translocation in one of the parents, which caused pathology in the child, requires invasive prenatal diagnosis in subsequent pregnancies. In such cases, the risk of recurrence depends on the type of translocation and which parent (mother or father) is a carrier.

With mosaicism of parents genetic risk estimated to be high and approaching 30%.

Down syndrome (also called trisomy 21) is a genetic disorder that affects approximately 1 in 800 births. It is a leading cause of cognitive impairment. Down syndrome is associated with mild to moderate developmental delays, people with the disease have characteristic facial features, low muscle tone V early childhood. Many people with Down syndrome have heart defects, an increased risk of leukemia, early onset Alzheimer's disease, gastrointestinal diseases, and other health problems. Symptoms of Down syndrome range from mild to severe.

Causes of Down syndrome

Down syndrome is named after Dr. Langdon Down, who first described the syndrome as a disorder in 1866. Although the doctor described important and fundamental symptoms, he did not correctly determine what exactly causes this pathology. It was only in 1959 that scientists discovered the genetic origin of Down syndrome. Genes on extra copies of chromosome 21 are responsible for all the characteristics associated with Down syndrome.

Typically, each human cell contains 23 pairs of different chromosomes. Each chromosome carries genes that are necessary for proper development and maintaining our body. Conceptually, a person inherits 23 chromosomes from the mother (via the egg) and 23 chromosomes from the father (via the sperm). However, sometimes a person inherits an additional chromosome set from one of the parents. In the case of Down syndrome, the most common inheritance is two copies of chromosome 21 from the mother and one copy of chromosome 21 from the father, for a total of three chromosomes 21. It is because of this type of inheritance that Down syndrome is called trisomy 21.

About 95% of people with Down syndrome inherit all of extra chromosome 21. About 3% to 4% of people with Down syndrome do not inherit all of extra chromosome 21, but only some extra genes from chromosome 21 that are attached to another chromosome (usually , chromosome 14). This is called translocation. Translocations are mostly random events during conception. In some cases, however, one parent is a carrier of a balanced translocation: the parent has exactly two copies of chromosome 21, but some genes are distributed on another chromosome. If a child inherits a chromosome with additional genes on chromosome 21, then the child will have Down syndrome (two chromosome 21s, plus additional genes on chromosome 21 connected from another chromosome).

About 2% to 4% of people with Down syndrome inherit additional genes on chromosome 21, but not in every cell of the body. This mosaic Down syndrome. These people may, for example, inherit some chromosomal abnormalities, i.e. the additional 21st chromosome may not be found in all human cells. Because the number of these cells varies widely in people with mosaic Down syndrome, they often will not have all the features of Down syndrome and may not have as severe intellectual impairment as people with complete trisomy 21. Sometimes mosaic Down syndrome is so minor that it will go unnoticed. On the other hand, mosaic Down syndrome may also be misdiagnosed as trisomy 21 if genetic testing has not been done.

The question that arises, which scientists from all over the world are currently working on, is which of the additional genes on chromosome 21 lead to the development of certain symptoms. There is still no exact answer to this question. Scientists believe that increasing the number of specific genes changes the interaction between them. Some genes become more active than others, while others become less active than normal. As a result of this imbalance, the differentiation and development of both the organism itself and the psycho-emotional sphere are disrupted, including intellectual development. Scientists are trying to figure out which genes of the three variants of chromosome 21 are responsible for which characteristics of Down syndrome. Currently, about 400 genes are known on chromosome 21, but the function of most remains unclear to this day.

The only one known factor The risk of developing Down syndrome is the age of the mother. The older the woman is at the time of conception, the more risk birth of a child with Down syndrome. Maternal age at conception is a risk for Down syndrome:

25 years 1 in 1250
30 years 1 in 1000
35 years old 1 in 400
40 years 1 in 100
45 years old 1 in 30

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

Healthy parents who have a child with Down syndrome have a 1% risk of conceiving another child with Down syndrome.

Symptoms and signs of Down syndrome.

Although the severity of Down syndrome ranges from mild to severe, most people have well-known external manifestations. They include the following signs:

A flattened face and nose, a short neck, a small mouth sometimes with a large protruding tongue, small ears, slanting upward eyes, which may have small folds of skin at the inner corner;
White spots (also known as Brushfield spots) may be present on the colored part of the eye;
The hands are short and wide, with short fingers, and with one fold in the palm;
Weak muscle tone, delayed development and growth.
Arched palate, dental anomalies, flat bridge of the nose, grooved tongue;
Joint hypermobility, curvature chest keeled or funnel-shaped.

The most common disorders associated with Down syndrome are cognitive impairment(communication disorders). Cognitive development is often delayed, and all people with Down syndrome have learning difficulties throughout their lives. How does an extra 21st chromosome lead to cognitive impairment, not entirely clear. The average size the brain of a person with Down syndrome differs little from healthy person, but scientists have found changes in the structure and function of certain areas of the brain, such as the hippocampus and cerebellum. The hippocampus, which is responsible for learning and memory, is especially affected. Scientists use human studies in animal models of Down syndrome to find out which specific genes on chromosome 21 lead to different aspects of cognitive impairment.

Besides cognitive impairment, the most common conditions associated with Down syndrome are congenital heart defects. About half of all people with Down syndrome are born with a heart defect, often an atrioventricular septal defect. Other common heart defects include ventricular septal defect, atrial septal defect, tetralogy of Fallot, and patent ductus arteriosus. Some cases require surgery immediately after birth to correct heart defects.

Gastrointestinal diseases also often associated with Down syndrome, especially esophageal atresia, tracheoesophageal fistula, atresia duodenum or its stenosis, Hirschsprung's disease, and imperforate anus. People with Down syndrome have a higher risk of developing celiac disease. Corrective surgeries are sometimes necessary for the gastrointestinal tract.

Some cancers are more common in people with Down syndrome, such as acute lymphoblastic leukemia (a type of blood cancer), myeloid leukemia, and testicular cancer. Solid tumors, on the other hand, are rare in this population.

Patients with Down syndrome have a number of predispositions to such conditions as: hearing loss, frequent middle ear infections (otitis media), pathology of the thyroid gland (hypothyroidism), cervical instability spine, visual impairment, sleep apnea, obesity, constipation, infantile spasms, seizures, dementia and early onset Alzheimer's disease.

About 18% to 38% of people with Down syndrome have mental or behavioral disorders, such as: autism spectrum disorder, attention deficit hyperresponsiveness disorder, depression, stereotypical movement disorders and obsessive-compulsive disorder.

Methods for prenatal diagnosis of Down syndrome.

Several non-invasive screening options are offered to parents. If Down syndrome is suspected based on screening results, a formal diagnosis may be made before the baby is born. This gives parents time to gather information about Down syndrome before the baby is born and the opportunity to take action if complications occur.

Prenatal screening is currently represented by an alpha-fetoprotein (AFP) test and ultrasound. These methods can assess the risk of developing Down syndrome, but they cannot confirm it with a 100% guarantee.

The most widely used screening test is AFP. Between 15 and 20 weeks of pregnancy, a small blood sample is taken from the mother and tested. Levels of AFP and three hormones called unconjugated estriol, human chorionic gonadotropin, and inhibin-A are measured in a blood sample. If AFP and hormone levels change, then Down syndrome may be suspected, but not confirmed. Besides, normal result The test does not exclude Down syndrome. The thickness of the nuchal fold in the neck area is also measured using ultrasound. This test is performed between 11 and 13 weeks of pregnancy. Combined with the mother's age, this test reveals an approximately 80% chance of developing Down syndrome. During the period 18 and up to 22 weeks of pregnancy, you can look at additional markers that can be detected in a fetus with Down syndrome: measure the length of the shoulder and femur, nose bridge size, size renal pelvis, small bright spots on the heart ( ultrasound signs developmental defects), a large gap between the first and second toe.

There are more accurate, but invasive methods for diagnosing Down syndrome. With these methods there is no big risk complications in the form of miscarriage.

Amniocentesis is performed between 16 and 20 weeks of pregnancy. During this procedure, a thin needle is inserted through the abdominal wall and a small sample of amniotic fluid is removed. The sample is analyzed for chromosomal abnormalities.
Chorionic villus sampling is performed between 11 and 12 weeks of pregnancy. It involves collecting samples of chorionic villi and cells from the placenta either by inserting a needle into the abdominal wall or through a catheter into the vagina. The sample is also analyzed for chromosomal abnormalities.
Percutaneous cord blood sampling using fine-needle biopsy. The blood is tested for chromosomal abnormalities. This procedure It is usually performed after the 18th week of pregnancy.

Treatment of Down syndrome

On currently time the disease is incurable. Only concomitant disorders are corrected if necessary (heart defects, gastrointestinal tract...)

How can you help children and adults with Down syndrome? Despite genetic cause Down syndrome, it is known that there is currently no cure. It is very important to stimulate, encourage and educate children with Down syndrome from infancy. Programs for children with special needs, which are offered in many countries, can improve quality of life as a result of early intervention, including physical therapy, occupational therapy and speech therapy can be very helpful. Like all children, children with Down syndrome need to grow and develop in a safe and supportive environment.

Down syndrome prognosis

Life expectancy for people with Down syndrome has increased dramatically over the past few decades as medical care and social adjustment have improved significantly. A person with Down syndrome in good health will on average live to 55 years or longer.

People with Down syndrome are living longer today than ever before. Thanks to full integration into society, many adults with Down syndrome now live completely independently, enjoying relationships, work, and contributing to the community.

General practitioner Zhumagaziev E.N.

One of the most mysterious genetic diseases today - Down syndrome, about which there are myths and legends. Conflicting facts make parents of such children nervous. During pregnancy, the question arises whether to let them live or have an abortion. After birth - how to raise and develop an unusual child, not like everyone else.

Information literacy lowers the threshold of anxiety and makes you look at this problem from a different angle. You just need to figure out what it is and whether you are ready for the trials that fate has in store for you and your baby.

This is a genomic pathology, which doctors also refer to as trisomy 21. Many people are interested in how many chromosomes a person with Down syndrome has, in contrast to the norm. The karyotype represents 47 chromosomes instead of the usual 46, since the chromosomes of the 21st pair are represented by three, and not two, as they should be, copies.

The term “Down's disease” does not justify itself: geneticists insist on the “syndrome”, which means a set of characteristic traits and characteristics that such people possess. Here's what the statistics say about this genomic abnormality.

Down syndrome is not a rare pathology: there is 1 case per 700 births. Currently - by 1,100 births, as the number of abortions has increased when parents find out about the disease during pregnancy.
The ratio of boys and girls with this genetic disorder is approximately the same.
This trisomy is equally common in all ethnic groups and in representatives of all economic classes.
If a pregnant woman is under 24 years old, the risk of having a child with Down syndrome is 1 in 1,562. If she is between 25 and 30 years old, it is approximately 1 in 1,000. Between the ages of 30 and 39 years, it is about 1 in 214. The risk is greatest for those mothers who are already over 45. In this case, according to statistics, the probability is 1 in 19.
80% of children with this disorder are born to women under 35 years of age, since in this age group highest birth rate.
A father's age over 42 increases the risk of Down syndrome several times.
In January 1987, for unknown reasons, a very large number of big number newborns with Down syndrome. No more such cases were observed.

Babies with this syndrome are called sunny children because they are distinguished by kindness and tenderness throughout their lives. They are constantly smiling. There is no envy, aggression or malice in them. But they do not adapt well to a normal lifestyle, as they lag behind in development. What factors does the birth of such an unusual child depend on?

Even so! International Down Syndrome Day was first celebrated on March 21 in 2006. The date is not random: the day and month were chosen in accordance with the pair number (21) and the number of chromosomes (3).

Causes

Doctors are still working on the question of why children are born with Down syndrome, what factors and circumstances are decisive in the violation of the karyotype. Genetics, despite the high level modern science, and to this day remains one of the most mysterious and little-studied branches of medicine. Therefore, there is no exact answer to this question. Recent studies name the following causes of Down syndrome, of which very few have been identified:

mother's age after 40 years;
father's age after 42 years;
an accidental coincidence of circumstances at the time of formation of pregnancy and germ cells;
flaw folic acid(a hypothetical fact, not scientifically confirmed (read about folic acid when planning pregnancy)).

But at this stage of genetic research, geneticists unanimously claim that the causes of this chromosomal disorder do not depend in any way on environmental factors and lifestyle of parents. Therefore, a married couple should not blame themselves for the fact that their fetus or newborn baby was diagnosed with this syndrome.

Through the pages of history. John Langdon Haydon Down is an English scientist of the 19th century who first described Down syndrome. He called it "Mongolism".

Symptoms

The clinical picture of gene pathology is clearly expressed by external symptoms, and therefore can be easily diagnosed immediately after the birth of the baby. But modern medicine determines the signs of Down syndrome during pregnancy, which allows parents to make a decision about the future fate of the baby.

During pregnancy

Young parents are interested in whether it is possible to see Down syndrome on an ultrasound and at what stage. There are a number of signs indicating this pathology in the first and second trimesters, but they must be confirmed by additional tests and genetic tests. These include:

absence of nasal bone;
hypoplasia (reduced size) of the cerebellum and frontal lobe;
heart defects;
short humerus and femur;
choroid plexus cysts;
Down syndrome on ultrasound is determined by the thickness of the nuchal translucency of more than 3 mm in the period from 11 to 14 weeks and more than 5 mm in the second trimester;
dilation of the renal pelvis;
hyperechoic intestine;
echogenic foci in the heart;
duodenal atresia.

All these signs of Down syndrome in a fetus do not provide a 100% guarantee that it has a chromosomal abnormality. They must be confirmed by the results of genetic analyzes and tests. If parents abandoned the child after diagnosis during pregnancy, after his birth they will be able to see the symptoms of the pathology with the naked eye.

After birth

Despite the fact that external signs of Down syndrome in newborns are noticeable to everyone, they can indicate a host of other health problems in the baby. Therefore, the diagnosis must be confirmed genetic analysis for karyotype and other laboratory tests. Typically, a newborn with Down syndrome differs from other children in the following deviations:

flat face, back of the head, bridge of the nose;
brachycephaly - an abnormally short skull;
brachymesophalangia - short fingers due to underdevelopment of the middle phalanges;
clinodactyly (curvature) of the little finger;
wide skin fold on an abnormally short neck;
epicanthus - a vertical fold of skin above the palpebral fissure;
joint hypermobility;
open mouth due to low muscle tone and the special structure of the palate;
short limbs;
arched palate;
grooved tongue;
short nose;
transverse (monkey) palmar fold;
congenital leukemia or heart disease;
strabismus - strabismus;
keeled or funnel deformity breasts;
Brushfield spots - pigment spots on the iris;
episyndrome - a complex of mental disorders;
atresia, duodenal stenosis.

It is not necessary that newborn children with Down syndrome will have all of the above-mentioned abnormalities. Some will have one set, others will suffer from others. With age, the symptoms of Down syndrome will be supplemented by other signs:

after 8 years - cataract;
dental anomalies;
obesity;
weak immunity;
tendency to Alzheimer's disease, leukemia,;
mental retardation;
stuttering.

The appearance of all these physiological features is due to the presence of that extra chromosome in the karyotype of such children. As a result, they develop more slowly than their peers and go through the stages of socialization that are common to all. Since in medicine Down syndrome is one of the differentiated forms of oligophrenia, therefore, it is divided into several degrees of mental retardation.

Interesting linguistics. Dr. Down's surname has the same meaning as the English word "down." Because of this, a popular misconception was born that people with Down syndrome were so named because of their mental retardation. Although this is not true: the disease received its name in 1965 solely by the name of the doctor.

Degrees

Depending on the depth of mental retardation, the following degrees of Down syndrome are distinguished:

Deep.
Heavy.
Average (moderate).
Weak (light).

Kids with weak degree may differ little from their peers and achieve sufficient heights, which has a lot of evidence. Whereas people who have deep or severe degrees of pathology will never be able to lead a normal life. This is a very heavy burden, not so much for them themselves, but for their parents. This is why it is so important to find out about the diagnosis in advance. So, at what time is Down syndrome determined, and using what methods?

This is interesting. Men with this syndrome are sterile and cannot have children.

Diagnostics

An important role in detecting this chromosomal pathology is played by timely diagnosis, which is usually carried out during pregnancy using modern techniques and screenings.

Ultrasound

Is it possible to detect Down syndrome using ultrasound, and at what time? Yes, there are ultrasound signs (they are also called markers) of this genetic disorder. However, none of these ultrasound markers are correct and completely absolute symptom Down syndrome. Additional studies are needed to confirm the diagnosis.

Genetic tests

They are offered to families in which the risk of having a baby with this syndrome is very high.

Invasive examinations

- puncture of the amniotic membrane for the purpose of laboratory examination of amniotic fluid.
Chorionic villus biopsy - obtaining chorion tissue (the outer membrane of the embryo) to identify and prevent chromosomal pathology.
Cordocentesis - obtaining fetal cord blood.

Non-invasive examinations

Prenatal screening program

The results indicate the risk of having a child with Down syndrome, but do not 100% confirm the diagnosis. Two screenings are carried out - in the first and second semesters. They involve blood tests and ultrasound. A special test is prescribed for Down syndrome in pregnant women - hCG (human chorionic gonadotropin - a substance secreted by the fetus). There is no requirement to donate blood. special training(for example, diets). In the morning, on an empty stomach, blood is drawn from a vein.

First trimester: a blood test for Down syndrome is prescribed before the 13th week. Result: hCG content is increased, PAPP-A (a special protein) is decreased. With such indicators, a chorion biopsy is performed.
Second trimester: a blood test for Down syndrome provides material for the study of 4 elements, not two (hCG, estriol, AFP, inhibin-A).

If a high risk of Down syndrome has been determined by the first screening (1 in 500), additional invasive studies are prescribed in the early stages of pregnancy in order to make a timely decision. However, the result of a screening test, as practice shows, is not always accurate. There are often cases when both an ultrasound and a blood test confirm the diagnosis, but the parents, despite this, leave the baby alive, and he is born without genetic abnormalities. To avoid such errors, an innovative diagnostic technique was developed.

Prenatal diagnosis of major trisomies

This new method, which consists of whole-genome sequencing of the karyotype, fetal DNA, which circulates freely in the maternal blood. This diagnosis is more reliable compared to invasive methods. The latter are accompanied by the mechanical work of geneticists, in which an error is made in 10% of cases. Noninvasive testing of trisomy is performed using sequencers latest generation, using mathematical analysis. This guarantees a 99.9% correct result. The most common and well-proven methods:

The very first non-invasive test based on taking blood from a vein from a pregnant woman is MaterniT21 PLUS.
Tests from Verinata, Illumina, Ariosa Diagnostics and Natera (USA).
DOT test (joint development of Russia and the USA).
Chinese test for Down syndrome during pregnancy from the genetic company BGI.

So modern techniques allow you to identify Down syndrome during pregnancy and help parents make a decision. Therefore, all analyzes and tests are prescribed in semesters I and II, since at week 20 it is too late: the child begins to move.

Today, the proportion of women who terminated pregnancy due to prenatal diagnosis of this pathology is about 92%. Perhaps it is influenced by the fact that such a diagnosis is made for life: the syndrome cannot be treated. Parents can only improve the living conditions of such a child.

Interesting fact. Many films have been made about people with Down syndrome that have received recognition and worldwide fame: “Temple Grandin”, “Me Too”, “People Like Us”.

Treatment

It’s worth mentioning right away that the treatment of Down syndrome is a series of measures aimed at improving the quality of life of patients. No one can correct DNA, so there is no hope for recovery. There are specially developed programs to help sunny children. They assume the development in each child:

speeches;
motor skills;
communication skills;
self-care skills.

The teams of doctors working with them include:

pediatrician;
cardiologist;
gastroenterologist;
endocrinologist;
neurologist;
physiotherapist;
audiologist;
speech therapist, etc.

For support and normal development CNS sunny children are periodically prescribed drugs to improve blood circulation in the brain:

piracetam;
Cerebrolysin;
aminolone;
vitamins from group B.

Sometimes such complex treatment produces results. But for the most part, forecasts for the future are typical and quite predictable.

With the world - one by one. There are people with Down syndrome who have achieved success in life and become famous personalities. These are the artist Raymond Hu, swimmers Maria Langovaya and Karen Gafni, lawyer Paula Sazh, actors Sergei Makarov, Pascal Duquenne and Max Lewis, musician Ronald Jenkins.

Forecasts

As practice shows, children with Down syndrome may develop differently in the future. The degree of mental and speech delay will depend not only on congenital factors, but also from additional activities with them. Such kids are quite teachable, although this process is difficult for them, and therefore they lag behind their peers. Here are typical medical forecasts for proper care of solar children and appropriate treatment:

many are late, but can still learn to speak, walk, read, write - do most of what everyone else can do;
they will have ;
they can study in both specialized and regular schools;
some people with Down syndrome were even able to graduate from universities: this is the Spaniard Pablo Pineda, the Japanese Aya Iwamoto;
marriages are possible;
50% of women can have children, but 50% of them will be born with disabilities, including Down syndrome;
Concerned parents often ask how long children with Down syndrome live: their life expectancy today, under appropriate conditions, is about 50 years;
risk of development cancerous tumors for such people it is minimal.

There are also Negative consequences Down syndrome in terms of physiological health, which are eliminated by additional therapy:

cardiac diseases (congenital heart defects);
leukemia;
Alzheimer's disease;
weakened immunity, due to which sunny children often suffer from all kinds of infections;
digestive disorders (megacolon, obstruction);
sleep apnea;
obesity;
improper functioning of the thyroid gland;
epilepsy;
early menopause;
hearing problems;
poor eyesight;
bone weakness.

How Down syndrome will manifest itself in the future in one case or another, no specialist can say. In this matter, everything is very individual. Parents can only be guided by these forecasts and prepare themselves for the most different consequences such an unusual gene abnormality. Is it possible to somehow protect your baby from such developments?

Did you know that... in many families famous people Are you raising children with Down syndrome? This disease affects the son of the actress and singer Evelina Bledans, the daughter of Lolita, the grandson of Boris Yeltsin, and the daughter of the famous politician Irina Khakamada.

Prevention

There are no reliable, proven, guaranteed methods for preventing Down syndrome. Doctors recommend the following:

timely genetic counseling even before and after conception;
carrying a baby at a young age, up to 40 years old (this applies to both father and mother);
taking everyone and especially folic acid when planning pregnancy and in its first half.

You need to understand that the parents are not to blame for the birth of a child with Down syndrome. This is just an accident, an error in the genome. She brings sunny, extraordinary children into our world - kind, naive, very trusting, always open and smiling. Due to their characteristics, such people remain innocent children until the end of their lives who need help, love and understanding.