Down syndrome physical signs. Down syndrome signs and causes of its development

Although the number of chromosomes in a living organism is usually directly proportional to the level of its development, in humans, an extra chromosome can cause a number of problems. A newborn with 47 chromosomes needs to be surrounded by a special attitude, since the risk of developing pathologies in his body, including Down syndrome, is very likely. And yet this does not mean that a child with this diagnosis is completely lost to society.

It would be more correct to say that this incurable disease is a serious challenge for parents and the baby himself, but those who persevere will be rewarded

Diagnostics

Doctors consider it necessary to determine the presence of Down syndrome even at the stage of gestation - this will allow the mother to mentally prepare for the fact that her child will be unusual or even refuse to give birth. There are a number of invasive (penetrating) techniques that allow you to count number of chromosomes in a child's DNA even in the early stages of gestation - for this, an analysis of the fluid from the umbilical cord is taken, a biopsy is performed, non-invasive methods can be used as alternatives - a special ultrasound (screening) or the isolation of the child's DNA from the mother's blood.

Invasive techniques show a high accuracy of the result and are mandatory for women with a predisposition to this disease, and are also recommended for pregnant women under the age of 30.

The accuracy of non-invasive diagnostic methods is questionable, however, other methods are not available to women after 35, since an attempt to intervene in the uterus can be fatal for pregnancy.

Reasons for the appearance of chromosome 47

This disease is a gene mutation, but even such complex phenomena must have their own causes. The reasons for the birth of a special child have not been precisely established - only groups of people have been identified who have such children more often. Accordingly, even the presence of all the described reasons - not a guarantee, but only an increased risk of having a baby with disabilities, because the specificity of gene mutation is still not fully understood.

In general, experts point to such factors that allegedly increase the likelihood of a down birth:

late conception age. First of all, it is more and more difficult for the mother to give normal offspring with age - it is believed that after 35 years of age, a gene mutation in a woman in labor becomes much more likely. However, men should not relax either, just the “threshold” for them is a little higher - it is 45 years old. In general, experts point to such factors that allegedly increase the likelihood of a down birth

Heredity. This moment is even more confusing, since even ideal heredity does not guarantee anything - down can be born in a family where the parents are young and completely healthy, and none of the relatives has ever had this syndrome. Moreover, a completely opposite situation is also possible, when healthy children can be born to two down children - there is no direct transmission of the mutation; however, it must be taken into account that a sick boy is usually sterile from childhood, although not always.

However, doctors insist that the fact of fixing such diseases in the same family earlier may indicate a general tendency to gene mutation. This is not a reason to abandon children, but only a reason to once again consult with doctors before conception.

Incest. Human reproduction, which requires the obligatory participation of two people, is organized in such a way that the child receives different genes and is adapted to more factors of the outside world. During sexual contacts between close relatives, the sets of genes received from both parents are very similar, so the mutation mechanism is turned on, trying to “invent” adaptability to a larger number of external stimuli. The result in most cases are serious violations - in particular, Down's syndrome.

Increased solar activity. It is believed that the formation of the disease can also be affected by a cosmic cause, which can be resisted in only one way - by carefully checking the forecasts of solar activity when planning conception. This theory requires large-scale comprehensive confirmation, and yet it is recognized as scientific. She is one of the reasons why downs are called "sunny" children.

Characteristics of the patient

Children with Down syndrome are very similar to each other due to the similarity of the gene code, but they still look different, because everyone also looks like their parents. At the same time, they differ from the parents of small patients some signs that adults may not have at all, for example:

Very flat face and strongly flattened nose.
Slightly oblique incision of the eyes and a small fold of skin near the inner corner of the eye. In combination with the previous sign, an appearance is obtained that is vaguely reminiscent of a Mongoloid.

The skull appears shortened, the occiput is oblique and flat. In the structure of the outer ear, various anomalies are often noted.
The mouth is usually quite small compared to the tongue, so these children often stick out their tongue, or, more generally, they almost always keep their mouth slightly open.
Muscles are characterized by a weakened tone, and the joints fix the position less reliably.
On the inside of the palm there may be a transverse fold, an anomaly of the little finger is often observed in the form of unnatural curvature.

If an unusual appearance has little effect on normal life, then another problem is the internal pathologies that regularly accompany Down syndrome. Nowhere is it indicated how many years “sunny” children live, because their life expectancy largely depends on the degree of development of such comorbidities.

In general, the life expectancy of downs is comparable to the life expectancy of healthy people diagnosed with similar pathologies, namely:

Congenital heart disease (typical for 2/5 downs).
Disorders of internal secretion.
Pathologies of the skeleton - both serious (absence of one pair of ribs, deformity of the chest or pelvis), and simply noticeable (short stature).
Respiratory pathologies caused by impaired structure of the nasopharynx and other upper respiratory tract.

Improper functioning of the gastrointestinal tract, impaired fermentation.
Sensory organs disorders - reduced hearing abilities, visual pathologies (glaucoma, strabismus, cataracts).

However, not all features of children with Down syndrome are necessarily bad. For example, they are also called “sunny” children for their beautiful, especially shining eyes, as well as for their amazing sincerity of a smile.

It should be noted that such an appearance cannot be called deceptive - downs are really distinguished by their kindness, which could set a worthy example for many healthy people.

General features of development

Since Down syndrome is a genetic pathology, modern science is still very far from learning how to correct it. Nevertheless, methods have been developed that are designed to successfully resist various manifestations of the disease, bringing the condition of a sick child closer to the norm of a healthy one.

Since the diagnosis can be made during pregnancy, it is important to conduct a full diagnosis in infancy for the associated disorders described above. With the constant supervision of specialists and a properly built course of medication differences from a healthy baby will no longer be so obvious.

An important point is the slow development of the child - both mental and physical. The lag behind normal children by months is noticeable already in infancy, because a down child will be able to hold his head only at the age of about three months, by the year his best achievement will be the ability to sit down on his own, and only by the age of two will he learn to walk himself.

However, these terms are indicated for those children who, despite the syndrome, were brought up in the same way as normal ones. If the diagnosis was made in time, specially created programs will significantly speed up the process.

The task of achieving a decent level of development in a child with Down syndrome does not seem impossible, it just takes a little more effort. Of course, it’s worth starting with exercises aimed at developing fine motor skills, because this is progress not only for the muscles, but also for the brain. Massage is also considered a very effective way to improve the physical condition of a sick child.

Learning literally everything is a little more difficult than with other babies, so parents will have to make more efforts to teach the child to speak.

In order to deliver a clear, correct speech, experts recommend paying more attention to songs and poems.

Very important overcome the psychological barrier, which may arise in a child when he realizes that he is different from other children. If there is any violation of speech, it must be eliminated as soon as possible - it will be easier to establish normal communication in kindergarten. Elementary self-care skills will help the child not depend on the help of others, which will also help increase self-confidence.

The specifics of physical development

For children with Down syndrome, the path to big-time sports is practically cut off - they are distinguished by poor physical development, and in general they weigh a little. Wherein physical education is almost more important for them than for healthy children, for this is the only way to strengthen a weakened organism.

In general, health problems have a pronounced external manifestation, because the popular symptoms of the syndrome are extremely weak skin pigmentation, an abundance of rashes, excessive dryness and roughness of the skin, and a tendency to crack in the cold.

Perhaps, the heart and the circulatory system as a whole are most often affected by developmental pathologies. Heart disease is noted in almost half of all those suffering from Down syndrome, murmurs are heard in the heart rhythm, a characteristic phenomenon is impaired valve operation.

The lungs are usually formed correctly, deviations are relatively rare and are superficial. At the same time, due to pathologies of the neighboring heart, high blood pressure is recorded in the lungs of downs. Scientists also believe that the disease provides increased susceptibility to pneumonia.

Weak muscle tone is especially noticeable on the abdomen - it sticks out noticeably, compared to the chest, which could be a normal variant for middle-aged and older people, but looks rather strange in an infant. Often, the feature is also complemented by an umbilical hernia, but you should not worry about it - it goes away by itself over time.

The remaining internal organs practically do not change under the influence of chromosome 47, except that the genital organs may differ in a slightly smaller size than in other children of the same age and complexion; boys are usually infertile.

The feet and hands are slightly irregular in shape, seem shortened and widened. On the hands, the pathology of the little finger, curved forward (if you fold your arms at the seams), is clearly visible, on the feet the big toe is even more isolated than in healthy children. The lines on the palms are drawn especially clearly, on the feet there is also a skin fold that is uncharacteristic for most people.

Due to the passivity of the tendons, there is an increased likelihood of flat feet, so you need to get used to orthopedic insoles from childhood

The uncoordination of movements is typical for downs - one gets the impression that they do not control their body very well, but this is how it is, however, it is. Since the musculoskeletal system is weakened, the likelihood of injury increases.

The described violations are very common among children with this disease, but they do not necessarily have a pronounced character. Individual items may not appear at all or be superficial, not interfering with life.

The formation of the psyche

Although many ordinary people tend to draw parallels between Down syndrome and mental retardation, experts point to the completely different nature of these phenomena. Downs have a problem with their inability to take a broad perspective and focus, but they are able to devote considerable effort to solving one small but very complex problem.

Although their level of education is usually criticized because of such absent-mindedness and detachment, there are cases when famous scientists in the field of mathematics grew out of a “sunny” child.

Babies with this disease seem indifferent to what is happening around them. In infancy, already three months after birth, a healthy child begins to recognize his mother and rejoices at her, being frightened of the others, but it seems that the downy does not care who calls him, touches him or even picks him up. In the future, the child does not show interest in communication - he hears the appeal, but cannot concentrate on the answer, therefore he usually does not react.

Wherein intellectual development stops around the age of seven t - unless, of course, contribute to the further development of a small patient. By this point, he usually already speaks, but knows not so many words. The patient does not differ in special attention, his memory works rather poorly.

Characteristic are prolonged bouts of crying, despite the fact that there are no visible reasons for this.

Although concentration and attention are generally impaired, there are things that literally fascinate children with Down syndrome. These include, in particular, freely bouncing balls, although a sick child, unlike a healthy one, does not at all show excitement or desire to play himself. In general, babies with this diagnosis tend to focus on things that do not require any reaction from them.

Psychodiagnostics shows that the key problem of the disease is the lack of personality formation. If the child feels comfortable, his behavior can be perceived as a very big oddity, which still does not interfere with normal communication and other forms of human interaction.

preschool stage

Although many parents are afraid of the moment when an unusual child will have to be sent to kindergarten, this step is necessary, because only here children will be able to acquire the necessary skills to interact in society. Socialization is allowed in the most ordinary preschool children's institution, but on condition that educators will be aware of the characteristics of the baby and will be able to educate him according to the appropriate programs.

In particular, to strengthen the musculoskeletal system active play required, which also stimulate communication and the development of higher nervous activity. At the same time, the baby is more clumsy than healthy children, and prone to injuries, which teachers must take into account. Alternatively, exercise therapy can help.

Used to improve hearing sensitivity music games and lessons which also develops personality and physical activity. Since speech disorders are common, the presence of a qualified speech therapist in a preschool institution is mandatory.

A full-fledged upbringing of a personality is impossible without a properly constructed psychology. Children with Down syndrome are encouraged to interact with others in literally everything - even toys here often involve predominantly shared rather than individual use.

At the same time, even conditionally correct, but too stereotyped behavior of specialists is unacceptable - it is possible to reveal the personality only with an individual approach to each child.

School years

A child with Down syndrome may well study in an ordinary school - the qualification level of education for such children usually involves graduating from an educational institution of this type. It is noted that preliminary education in kindergarten helps such a child to get used to the new conditions, but here it is extremely important to show maximum understanding on the part of teachers and classmates.

At the same time, the baby likely to study much worse than most of his comrades. Down does not sit still, he does not know how to react quickly and focus, he does not remember information well.

People who create a training program for such a child will have to solve a number of difficulties:

Speech problems have a deep mental implication, that is, the child cannot formulate his thought not only out loud, but even in his head. He thinks, but, in a sense, he does not speak his native language well, so he cannot be judged by his ability to express thoughts both orally and in writing. Because of this, it is quite difficult to objectively assess the level of his knowledge.

Children with Down syndrome have a very underdeveloped thought process - it is quite difficult for them to draw their own conclusions. Such a child literally needs to show everything on his fingers, because on his own he can only count or rewrite.
Creating your own logical chains, even simple ones, or abstract thinking is too difficult for such kids. In addition, the solution of the problem for them is strictly tied to specific conditions, but they can no longer draw parallels and reorganize by solving a similar, but still not the same problem.

Memory is very limited, a “sunny” child needs much more time to thoroughly remember information.
A special student is very distracted by any extraneous phenomena, and even gets tired very quickly, so ideally, you need to build the learning process in such a way that not a single task is too long and exhausting.
The perception of information is fragmentary, individual facts or characteristics of a phenomenon are considered as unrelated, which hinders the discernment of patterns.

Even complaisance and goodwill can interfere with the normal education of children with Down syndrome! Although they are very obedient and willing to complete tasks, and also have non-confrontational behavior, such children are not at all inclined to get upset because of their own omissions. This has a positive effect on their mood, but completely kills any stimulus, because without being upset or afraid of anything, the child simply does not see the point in trying and doing better.

However, the right approach works wonders. Experts point out that the peculiarities of the child's behavior should not irritate the teacher - it's not the kid's fault that he is like that.

At the same time, praise is still able to motivate any student, and a general positive attitude, despite all the mistakes, helps the child not close, but move on, albeit slowly, towards the final goal.

Rehabilitation

Ever since society stopped considering children with Down syndrome as outcasts, people have been able to clearly see the effect of the thesis mentioned above that a good attitude can allow even such a child to achieve certain heights. Little by little, even celebrities with such a diagnosis began to appear - they do not have such big names, but they stand out strongly compared to many healthy people.

You just need to treat the child well, not hiding that he is unusual, but also without focusing on it as a problem. Support and proper patient education, teaching how to behave in society and what to do in private - that's all that is needed.

The society is gradually beginning to change its attitude towards such children towards a more balanced one, so the diagnosis is not a sentence, but only an increased need for a friendly environment.

For more interesting facts about children with Down syndrome, see the following video.

Down syndrome is a fairly common genetic disease, which is primarily characterized by a lag in mental and physical development. In 1866, the British doctor John Langdon Down first described the signs of patients susceptible to this pathology. The syndrome is named after him. However, the causes of this genetic anomaly were identified only in the middle of the twentieth century by the French geneticist Lejeune.

Causes of Down syndrome

Such a pathology as Down's syndrome is associated with a violation in the set of chromosomes and is characterized as the presence of an additional 47th chromosome in the karyotype, while the number 46 is the norm. This manifests itself in disorders of the mental and physical development of a person. It should be said that one child out of 600-700 newborns is susceptible to this disease, regardless of ethnicity. This anomaly occurs with equal frequency among both sexes.

As already noted, the causes of Down syndrome have been established relatively recently, although the opinions of experts in this field on this issue still differ. Consider the main factors that affect the likelihood of pathology in children:

The age of the parents;
closely related marriages;
Age of the child's maternal grandmother.

The first cause of Down syndrome, according to medical observations, is the age of the mother of the child. So, it is known that the probability of conceiving a child with this pathology at the age of a woman from 25 to 30 years is 1 to 1000, from 35 to 40 - 1 to 200, and after 45 years - 1 to 20. So far, experts cannot fully explain the relationship between syndrome and maternal age. Some of them believe that it is due to disorders that occur during the second division of meiosis, which occurs already in an adult woman. It was also found that the age of the father of the child plays an important role, especially if he is over 42.

Consanguineous marriages are the least common cause of Down syndrome in the civilized world. However, the most interesting factor from a scientific point of view is the relationship between the disease and the age of the grandmother on the mother's side of the child. Studies have shown that the older the grandmother was when she gave birth to her daughter, the more likely it is that her daughter will have a baby with this pathology.

This fact is explained as follows. Even in the womb, the female embryo goes through the process of the first division of meiosis, during which the chromosomes separate. Substances that come from the mother to the fetus during this period can also affect the development of its germ cells. Female children are born with a ready set of future eggs that have already passed the first division of meiosis. It is among this set that a certain part of the eggs has an extra chromosome, and if one of them is subsequently fertilized, the child will be born with Down syndrome. Thus, it is believed that the number of such cells in the ovaries of a newborn directly depends on the age of her mother.

Signs of Down syndrome

To date, a woman during pregnancy can undergo some examinations to determine whether the fetus has this genetic anomaly. It is known that they are the reason for the recent decrease in the number of sick children, since many women in the position, having identified violations, terminate the pregnancy.

If the child has already been born, then a number of characteristic external signs of Down syndrome may indicate the presence of the disease:

The plane of the face and neck;
Shortened skull;
Short arms and legs;
short fingers;
Skin fold covering the corner of the eye;
A fold of skin on the neck.

These are the most common signs of Down syndrome, which are observed in 70-90% of cases. Along with this, there are others that are less common, but also characteristic of this disease. Among them are the following:

The plane of the nose and nose;
Wide and short neck;
Curvature of the little finger;
Development of cataracts after the age of eight;
Anomalies of the teeth;
Open mouth;
Arched sky.

In addition, during the development of Down syndrome, pathologies such as muscle hypotonia, chest deformity, strabismus, congenital heart disease and leukemia can be noted.

Diagnosis of Down syndrome

In order to detect the development of Down syndrome, there are some basic diagnostic methods. The first of these is an ultrasound examination. In the first trimester of pregnancy, a woman may have a test to measure the nuchal space of the fetus. If, according to the results of a test performed using a vaginal sensor, its thickness exceeds 2.5 mm, then we can talk about the presence of a disease in the unborn child. If the study was carried out through the anterior wall of the abdomen, then an indicator of 3 mm indicates the presence of pathology in the fetus. In addition, it is possible to conduct an ultrasound scan for the presence of the nasal bone: with the development of Down's syndrome, it is either very small or absent in the fetus.

The second common diagnostic method in this case is a double biochemical blood test at the 10-13th week of pregnancy and a triple one at the 16-18th week. After the results of ultrasound and tests are obtained, for a reliable diagnosis of Down syndrome, you can undergo chorionbiopsy or amniocentesis, which most accurately recognize the presence of genetic abnormalities in the fetus. Chorionic biopsy involves the analysis of the tissues of the shell of the embryo, and amniocentesis is a puncture of the anterior wall of the mother's abdomen in order to take tissues of the fetus or amniotic fluid for analysis.

It should be noted that these procedures carry a great danger, both for the health of the expectant mother and the child. During the examination, damage to the internal organs of a woman, bleeding, trauma to the fetus, as well as threats of abortion are possible.

It is important to add that Down syndrome until recently was considered an incurable disease. However, more recently, an experiment was conducted in the United States that gives consoling forecasts. The study revealed the possibility of blocking an extra chromosome in the karyotype, which affects the development of pathology.

Video from YouTube on the topic of the article:

The genetic material of each person is located in paired chromosomes. Information about all the anatomical, physiological and even psychological and behavioral characteristics of a person lies in the genes.

Any change in the morphology or number of chromosomes that occurred due to a mutation in the genes of the egg or sperm or at the time of fertilization inevitably affects the formation of the fetus and the health of the unborn child. Some chromosomal abnormalities are incompatible with life. Such diseases lead to spontaneous miscarriage, often in early pregnancy.

Other genetic diseases are characterized by persistent, incurable disorders in the child's body. The latter also includes Down's disease, which is the result of a mutation of 21 pairs of chromosomes.

Parents of children with Down syndrome need to know that, although their babies are different from healthy ones, they may well grow up to be happy, to some extent able-bodied people.

Some facts and features of people with such a pathology should be remembered:

They can get an education, in some simple cases of neuropsychic development disorders - even a higher one, and in the future - find a job that suits them.
The development of such children should, if possible, take place among healthy peers and in a loving, caring family.
Children with this pathology are usually very kind, open, strongly attached to people who care about them. Therefore, they are also called "solar children."
Adults with Down syndrome are quite capable of starting a family. In women, in almost 50% of cases, a healthy child can be born, while men with this disease are infertile.
Gene mutations are not subject to human influence, therefore, unfortunately, not a single woman is insured against the possibility of having a sick child, although there are some age-related risk factors.
Life expectancy in sick people with proper care and development, as well as in the absence of concomitant serious diseases, can exceed 50 years.

Causes of Down syndrome

One of the important questions that worries the parents of a sick child is why they had a down, whether it is a hereditary disease. To answer it, you need to determine the type of damage to 21 pairs of chromosomes:

In most cases of Down syndrome, trisomy of 21 pairs of chromosomes, that is, an increase in the number (triple) of chromosomes in 21 pairs, is the cause of the disease. This mutation occurs at the stage of formation of the parent egg or sperm, occurs in more than 90% of cases and is not inherited.
Mosaicism: due to the defeat of 21 pairs of chromosomes, not in all cells, therefore, the mosaic form of Down syndrome is manifested only by individual symptoms. This pathology is also not hereditary.
Translocation: a segment of chromosome 21 is found in another chromosome. Such a restructuring in its carrier is not clinically manifested, but in the next generation it causes the development of pathology, that is, it is hereditary.

Risk Factors for Having a Baby with Down Syndrome

Statistics of the birth of a child with Down syndrome depending on the age of the mother

There is no known exact cause of Down syndrome. Several factors predisposing to its development have been identified:

The mother's age is less than 18 and more than 35 years at the time of pregnancy. In girls too young for pregnancy and childbirth, the processes of maturation and division of the egg are still imperfect, in women whose age exceeds 35-40 years, these processes can be disrupted due to the influence of various damaging factors on them during the life of a woman.
The age of the father over 45 years implies a violation of the formation of spermatozoa, damage to the gene material in them due to many reasons (bad habits, poor ecology, lifestyle features).
consanguineous marriages. Relatives often have the same chromosomal damage. When combining such genomic material, the risk of having a child with Down syndrome increases.
The presence in the hereditary history of any chromosomal pathology.
Presumably, the lack of vitamin E, folic acid in the diet of a woman at an early stage of pregnancy affects the possibility of developing pathology.

Signs of Down syndrome in a newborn

Signs of Down syndrome are clearly detected in a child immediately after birth. The appearance of a newborn has characteristic features:

Small stature, birth weight compared to the average in healthy children.
The fontanelles on the baby's head are large, on palpation, in addition to the large and small fontanels, additional ones are also found, which are extremely rare in healthy full-term children, since they are overgrown by the time of birth.
Small head, flat nape, short neck with a fold of skin. The auricles are underdeveloped, the upper part of the ear may hang down a little.
The most striking signs of Down syndrome in a newborn are the features of the facial features: the face is flat, the nose is small, wide. The eyes are of the Mongoloid type with a fold at the inner corner. There are characteristic pigment spots on the iris of the eye. Strabismus is often found.
Examination of the oral cavity reveals an arched upper palate, an enlarged tongue with pronounced grooves. The mouth is often ajar due to hypotension of the mimic and chewing muscles.
Arms, legs, fingers are shortened. Joints are hypermobile due to underdeveloped connective tissue. The tone of the muscles of the body is reduced. On the palm - a transverse fold, deformation of the little finger. On the foot - an increased gap between 1 and 2 fingers.
The chest is deformed.

In some cases, not all symptoms are presented: mosaic Down syndrome is manifested by only a few of them.

Concomitant pathologies in children with Down syndrome

In addition to the presence of typical signs of appearance, Down syndrome in newborns is manifested by the following diseases:

epilepsy;
congenital anomalies of myocardial development, manifested by heart defects;
pathologies of the development of the hearing organs, often leading to the development of otitis media, organs of vision (glaucoma, cataracts);
underdevelopment of the digestive tract at different levels (gastroesophageal reflux, duodenal atresia);
hypothyroidism;
leukemia.

Symptoms of Down syndrome in adults

All of the listed characteristic morpho-physiological manifestations of the disease in adults are preserved. Additionally, they can note the following symptoms of Down syndrome:

Due to the underdevelopment of connective tissue structures, patients often develop hernias, flat feet, and dislocations of the joints due to their hypermobility.
Dry, often marbled skin, prone to dryness, often with eczema.
Underdevelopment of secondary sexual characteristics.
Defects in the structure of enamel and tooth growth, a tendency to develop caries.
Speech disorders due to structural features of the upper palate, tongue, and also due to a delay in the neuropsychic development of a sick child.
Tendency to be overweight due to hypothyroidism.
Short stature, usually no more than 160 cm, short legs and arms are symptoms of Down syndrome due to reduced production of somatotropin growth hormone in the brain.
Immunodeficiency, frequent catarrhal infectious diseases.
High propensity to develop Alzheimer's disease with age.

How do children with Down syndrome develop?

Unfortunately, such a child cannot become mentally and physically an absolutely complete person. Depending on the nature of damage to 21 pairs of chromosomes, the clinical picture of the disease and the possibility of correcting symptoms will differ.

Features of physical development

For proper development, the baby must be provided with good nutrition. Newborns with Down syndrome, if possible, should be breastfed if the baby's mother is completely healthy, her diet contains all the necessary nutrients - proteins, fats, carbohydrates, vitamins, minerals. In addition, the pediatrician must prescribe vitamin D for the prevention of rickets.

Due to muscle hypotonia, all stages of physical development (holding the head, turning the body, attempts to sit, crawl, get up and walk) in a child with this pathology will take place several months later than in healthy children.

To help the child develop faster and more correctly physically, parents should devote a lot of time to classes with the baby. It will be useful:

Massage. It helps tone the muscles and strengthen them. Professional massage courses should be taken once every 3-4 months. At home, parents themselves can do a simple massage that does not require special education and training.
Gymnastics also strengthens the muscles, allows the child to learn how to perform new movements, acquire the skills of sitting, walking, etc.
Help the child when trying to sit down, stand up, take steps. You should hold the baby, rearrange his legs for the first time, when he learns to walk.
Grown up children need to show by example how to run, jump, play ball, ride a bike, etc.

Neuropsychic development, personality development in Down syndrome

cognitive sphere

With this disease, mental retardation can be of varying severity: mild, moderate, severe and deep. With a mild defect, positive results in learning and socialization, the development of the cognitive sphere can be achieved due to the existing strengths of children with Down syndrome:

They perceive information visually well, that is, when conducting developmental classes, it is necessary to use visual aids, cards depicting objects, animals, plants, letters, numbers. Thanks to this visual perception, as well as attention to detail, they are able to remember and reproduce information, learn to read and write. Auditory memory is less developed.
Many are able to master the work on the computer.
Such children are very observant, able to learn a lot from the example of healthy people around them.
With them, you can do drawing, sculpting, dancing, singing, as many people with Down syndrome have artistic talents.
Despite physical underdevelopment, many are able to play sports: swimming, athletics, rhythmic gymnastics.

Speech development

For the development of speech, you need to constantly communicate with the child, with different volume of voice and intonation, describe your actions, surrounding objects. Classes with a child, stories should be emotionally colored so that the child is in a good mood, laughing.

It is considered useful to play a puppet theater with a child, use finger, musical toys, toys made from various natural materials. This develops fine motor skills and speech centers of the brain.

For the correct setting of sounds, it may be necessary to conduct a speech therapy massage by a specialist.

emotional sphere

As a rule, such children are very affectionate, kind, sociable, have empathy, but their emotions are very labile, subject to rapid change to negative ones due to overwork, for example. Therefore, you should not spend a long time studying, you need to watch the child, switch him to other activities in time, arrange rest in case of manifestations of irritability, hyperactivity. The daily routine should be clear.

Often people with Down syndrome are prone to stress, they develop depressive, anxiety disorders. To correct these conditions, it may be necessary to consult a psychiatrist and prescribe appropriate drug therapy.

Any activity of the child should be accompanied by praise.

Diagnosis of Down syndrome

During pregnancy, a number of studies are carried out to identify many chromosomal pathologies. Down syndrome has no signs during pregnancy: a woman has no complaints or clinical manifestations that would indicate a similar disease in a child, therefore, a number of laboratory, instrumental and other studies are necessary to identify it.

Non-invasive methods

Every pregnant woman who is registered with a doctor undergoes screening studies aimed at detecting common chromosomal diseases. These include ultrasound and biochemical blood tests.

Ultrasound procedure

The most informative diagnosis of Down syndrome, carried out at the end of the first trimester at about 10-13 weeks of pregnancy.

Down syndrome on ultrasound is manifested by the following symptoms:

Thickening of the collar space in the fetus more than 3 mm.
Absence or shortening of the nasal bones.
Reducing the size of the fetus, its tubular bones.
Heart defects, tachycardia in a child.
Expanded bladder.
2 vessels in the umbilical cord (instead of 3 in a healthy state).

Also, ultrasound to detect Down syndrome and other pathologists are performed at 19-23 and 30-32 weeks of pregnancy.

Biochemical blood test

This Down test detects a change in the blood of a pregnant woman in the level of hormones associated with pregnancy, produced by the placenta or the body of the fetus. With Down's syndrome, the concentration of hCG increases, and PAPP-A, AFP and free estriol decrease.

A final diagnosis based on the results of a screening study cannot be made, therefore, a pregnant woman with suspected chromosomal pathology in the fetus and with signs of Down syndrome on ultrasound, as well as other risk factors, is sent for a consultation with a geneticist, who offers a plan for further examination, including invasive methods.

Invasive methods

This group includes studies conducted with a violation of the integrity of the amniotic membranes by puncturing the anterior wall of the abdominal cavity or the posterior fornix of the vagina under ultrasound control, followed by the collection of various material, its genetic study:

Amniocentesis: Test for damaged amniotic fluid genes.
Cordocentesis is a method of collecting and examining blood from the umbilical cord.
Biopsy of chorionic villi.

In rare cases, such a Down analysis during pregnancy can provoke a miscarriage, infection of the membranes, so this kind of examination should be justified.

Invasive studies with almost 100% probability confirm or refute the diagnosis. After establishing a high risk of this disease, the doctor must explain to the parents what kind of disease it is, what awaits their child and the parents themselves in the future. This pathology is an indication for medical abortion if the pregnant woman makes such a decision independently.

A differential diagnosis is sometimes required between Downism and Autism. The question of how to determine whether this is Down syndrome or another pathology can be answered, given the causes and manifestations of these diseases:

In autism, there are no pathognomonic features of the face, features of the structure of the body. An autistic person looks just like a normal healthy person.
Autism is not caused by trisomy 21, as in Down syndrome.
Autistics have symptoms such as stereotyped movements, an obsessive desire for order, and sometimes a lack of attachment to other people, which especially distinguishes them from people with Down syndrome.

Can Down's disease be cured?

There is currently no etiological treatment that eliminates the cause.

First of all, the treatment of Down syndrome is based on classes with a speech therapist, neuropsychologist and other specialists who help develop the neuropsychic functions necessary for a more or less fulfilling life in society.

For physical development, exercise therapy, massage, physiotherapy procedures are prescribed.

For the symptomatic correction of some signs of the disease, the following groups of drugs are usually prescribed to help improve the patient's quality of life:

Vascular, metabolic, neuroprotective, vitamin preparations to improve brain function.
Antiepileptic drugs.
Drugs that correct cardiovascular activity.
Means that improve intestinal motility, antispasmodics.
Hormonal preparations.

If necessary, surgical treatment is carried out: surgical treatment of cataracts, heart defects, gastrointestinal tract, etc.

Prices for treatment

Depending on the region, the prices for various medical services differ. If we take Moscow as an example, then the consultation of each specialist there costs between 2000-3000 rubles. Ultrasound of the abdominal cavity or heart - about 2000 rubles. One massage procedure with elements of physiotherapy exercises - about 1500 rubles.

Prevention of Down's disease

Since genetic mutations are not subject to influence on them, prevention consists in eliminating the main causes of Down syndrome:

Planning the birth of children in a favorable age period (up to 35 years for women and up to 40 years for men).
Genetic counseling in the presence of relatives of patients with chromosomal abnormalities.
Exclusion of consanguineous marriages.
The right way of life, getting rid of bad habits.
Proper nutrition, daily routine.
Reception of all drugs prescribed by a doctor to a pregnant woman, including folic acid in the early stages of gestation.

Lifestyle of children with Down syndrome

The possibilities of socialization, physical and neuropsychic development of a person with Down syndrome depend on the abilities of the patient himself, the quality and quantity of classes conducted with him, and the social environment. In most cases, a patient with Down syndrome receives a disability as a result of a medical and social examination.

Some manage to achieve very good results: find a feasible job, a family, achieve amazing results in art and sports. World-famous people with Down Syndrome: actors Pablo Pineda, Paula Sage, Stephanie Ginz, musician Ronald Jenkins. Looking at them, any parent can believe that his child with Down syndrome is able to live a happy life, if you believe in him, help, work with him and not give up.

Down syndrome is a common genetic anomaly. Statistics show that out of 700 newborns, 1 is born with a similar pathology. It does not depend on race, climate zone, skin color and nationality.

During Pregnancy Diagnosis Extra Chromosome
Planning within planned
apparatus photography

Children with Down syndrome are born with the same frequency; during pregnancy, a woman may not be aware of the pathology, but it is possible to determine this anomaly.

The word "syndrome" implies the presence of a certain sign or characteristic. It was named after the doctor who described the anomaly, John Langdon Down. The syndrome arose as a result of an anomaly, a violation of the process of cell division. This syndrome develops when the body has an extra chromosome. This chromosome can affect the body and the overall development of the baby.

It is laid down by nature that a person has 46 chromosomes in each cell, they have an equal ratio of genetic information from their parents. A person who was born with this syndrome has an extra chromosome, and its occurrence is still a mystery.

These children have belated development, physical, mental. And also this pathology can be accompanied by a number of other diseases. It is more difficult for them to adapt in our world, it is more difficult for children to study next to their peers. But, nevertheless, there are cases when a person lives a relatively full life, goes to school, goes in for sports.

Experts know how to use tests to recognize that a child will be born with Down syndrome even during a woman's pregnancy. The test is done for many reasons. More than 90% of women terminate a pregnancy after they know the diagnosis. More than 92% of couples give up a child at birth. More than 30% of cases end in miscarriage.

To reassure yourself, it is enough to take regular tests.

Only a small percentage of children with such a diagnosis can fully live in harmony and understanding with loved ones. Many people with the syndrome live into their 60s or older. Life expectancy is affected by a disease - heart disease.

The main signs of an anomaly

Now it is possible to determine the pathology at an early stage. When conducting an ultrasound scan, which is planned from the 14th week of pregnancy, a specialist can detect a violation in the formation of the baby's structure:

by the expansion of the collar zone, which exceeds the norm by more than 5 mm;
echogenicity (too bright image on the monitor of the ultrasound machine) of the intestine;
the presence of a heart defect.

Also, the signs by which Down syndrome can be determined during pregnancy can be the expansion of the renal pelvis, the formation of a choroid plexus cyst in the brain. The specialist will immediately note that the fetus does not have a nasal bone and there are neck folds. They mean that subcutaneous fluid accumulates there. These are all characteristic signs of pathology.

Sometimes you can see wide lips, a flat tongue, which will have a longitudinal furrow. The shape of the head will be round and have a slightly sloping forehead. The neck of such a child is short, and the earlobes grow to the head. Thanks to ultrasound during pregnancy, it is not difficult to determine Down syndrome.

The final diagnosis can be made only at the end of the 5th month of pregnancy. The syndrome is easily recognizable and has its own differences in appearance. The child on the ultrasound will have slanting eyes, a flat face. Another woman passes certain tests, which are also able to determine the pathology. They are taken from 11 to 13 weeks of pregnancy.

The risk of developing pathology

The syndrome is not a disease, it is a pathology that cannot be prevented or cured. The baby has an extra chromosome on chromosome 21, as described earlier, for a total of 47.

extra chromosome

In women older than 36 years, the possibility of an anomaly increases (1 to 30). Therefore, it is so important to take blood tests on time, undergo a routine examination during pregnancy - this will help to identify Down syndrome in a timely manner and help make a decision in time.

The main risk factors are:

the age of the mother, but this is a non-critical factor, often such children are born to young women, the age of the father does not particularly affect the syndrome - this is due to the fact that the cells of a man are renewed every 72 days;
female eggs, starting from the moment of birth, absorb all toxins, harmful chemicals, unhealthy lifestyle - alcohol, cigarettes, all this negatively affects future pregnancy;
if a family has a "special" child, there is a small percentage that a second child will have the same anomaly;
the risk of developing Down syndrome also increases if the spouses are related by blood;
exposure to radiation, heavy metals;
it is believed that if a grandmother gave birth to her daughter over 37 years old, there is a possibility that her grandchildren will have such a pathology.

Reasons for the formation of pathology

As such, there are no exact causes for the development of such a syndrome. A child with a similar deviation can be born in a perfectly healthy, young couple. But, nevertheless, the main criteria are distinguished when a woman during pregnancy can be diagnosed with a fetal pathology with Down syndrome:

the woman's age is under 18 and over 35;
the formation of an extra chromosome;
heredity;
maternal health;
marriages between relatives.

There are three types of syndrome:

standard trisomy is a complete tripling of chromosome 21, this type of pathology is the most common, it can be found in more than 92% of cases;
chromosome translocation - this type of anomaly can be inherited from parents, it can be found no more than in 5% of cases;
mosaic form - occurs only in 2%, with this type of pathology, the tripled chromosome is located in separate cells of the body, sick people have a normal appearance and intellectual development, but they are more likely that the child will have Down syndrome.

It is not yet possible to determine the exact reasons why pathology develops during pregnancy. But, nevertheless, anomalies occur more and more often. It has also been noticed that in more developed cities there are slightly fewer cases of the birth of "sunny" children. Perhaps factors such as ecology, wealth or nutrition are important here.

Planning for healthy children

In order to give birth to healthy children, parents need to take care in advance.

It is necessary to consult with specialists in genetics.
Make perinatal (prenatal) diagnosis. It includes ultrasound, determination of the level of alpha-fetoprotein in the blood serum of a pregnant woman, amniocentesis, chorion biopsy, cordocentesis ().

Complete diagnostics

Who is mainly at risk and who needs genetic counseling:

families that have a predisposition to hereditary diseases in the pedigree;
women who have experienced several spontaneous miscarriages during the next pregnancy should be screened to identify the risk of developing Down syndrome in the fetus;
who had cases of the birth of dead children;
if future parents have recently been exposed to radiation, close contact with chemicals, work in hazardous industries;
those who took drugs with a teratogenic effect (causes a mutation in the genes);
those who lead an unhealthy lifestyle;
men over 45 years of age.

After consultation with geneticists, it is necessary to conduct a perinatal diagnosis, the purpose of which is to determine the health of the baby in the womb.

Planning for a healthy child

It is necessary to determine the time that has passed since the abolition of contraception. Experts believe that after a woman has stopped taking oral contraceptives or after removing the spiral, it is necessary to refrain from conception for at least 2 to 3 cycles. During this period, the hormonal balance is normalized, which is affected by the use of contraceptives. The walls of the uterus, the activity of the fallopian tube are restored. In general, the body is ready for a subsequent pregnancy, the risks for diagnosing a pathology, such as Down syndrome, for example, become less.

You have to wait until after the baby is born. Doctors recommend that the period between births be at least two years. If a woman has experienced a caesarean section, it is especially necessary to respect the time interval. You also need to take into account the interval between feeding and conception (at least 6 months must pass).

Analyzes to detect pathology

At the beginning of pregnancy and a few months before it, doctors recommend starting vitamins, especially folic acid. This is necessary so that the woman's body is prepared for bearing a child. And also in order to minimize the development of pathology.

After a woman becomes pregnant, after a certain period she will have a scheduled examination. It is also necessary to take tests that reveal the formation of pathology during pregnancy.

The main tests that can show that the fetus is developing Down syndrome:

Ultrasound is carried out from the 10th - 13th week of pregnancy - they examine the width of the cervical transparency, the nasal bone;
take a blood test for hCG (chronic gonadotropin) from 10 to 13 weeks, for AFP (Alpha-feto-protein) from 16 to 18 weeks (AFP is a substance that is synthesized by the child's liver, is transferred to the amniotic fluid and then to the mother's blood);
tests for infectious diseases;
amniocentesis - amniotic fluid is taken from the fetal bladder (after 18 weeks).

From a medical point of view, Down syndrome during pregnancy is the presence of one extra chromosome in the fetus. And from the point of view of life, this is a serious burden and responsibility that falls on the shoulders of parents, since the care and upbringing of a special child requires considerable moral and material strength.

All children suffering from Down syndrome differ from healthy people in the intellectual and physical sense, it is extremely difficult for them to adapt to an independent life in society.

Therefore, raising such a child is difficult in all respects. To avoid this, experts suggest that all women undergo screening diagnostics aimed at identifying existing pathologies in the fetus, including signs of Down syndrome during pregnancy.

Down syndrome is a pathology that occurs against the background of a violation of the set of chromosomes that the unborn child receives from both parents. Children with this diagnosis are born into the world not with 46, but with 47 chromosomes.

Down syndrome, from the point of view of geneticists, cannot be called a disease, since a person born with this pathology has a certain set of signs and traits characteristic of such people.

Deflection features:

Down's syndrome cannot be called a rare phenomenon, since there is 1 case of the birth of a child with this pathology for 700 births. By the way, today this statistic has changed significantly, the ratio has become 1100: 1, as the number of induced abortions and childbirth has increased among women who learned about the rejection of their child through the analysis of Down's syndrome during pregnancy.
The percentage of female and male infants with a similar chromosomal disorder is the same.
Pathology does not depend on ethnicity and nationality, as well as on the standard of living of parents.

In women under 24, the probability of having a child with Down syndrome is 562: 1. From 25 to 30 years - 1000: 1, from 30 to 39 - 214: 1. Expectant mothers whose age has exceeded 45 years are at maximum risk, statistics in this case relentless - 19: 1. If the father of the child is over 42 years old, the probability of having a child with Down syndrome is several times higher.

80% of children with this deviation are born to women under 35, which is explained by the high birth rate in this age group.

Children born with this pathology are usually called "sunny" children, as they are distinguished by excessive warmth and kindness, a constant happy smile on their faces. Such children do not know how to be angry and envious, but it is difficult for them to adapt to life due to physical and mental disabilities. Why are such children born?

The reasons

Experts still cannot give an exact list of the reasons resulting from the birth of a child with Down syndrome. To date, very few factors have been identified in this problem.

Let's list them:

mother's age over 35;
father's age over 42;
an accidental unfavorable combination of circumstances that arose at the time of fertilization and division of the first cells;
deficiency in the body of the expectant mother (an assumption not confirmed by science).

At the same time, geneticists are confident that the appearance of chromosomal abnormalities is not influenced by negative environmental factors and the lifestyle of both parents. For this reason, spouses should not blame themselves for the fact that a pathology has been diagnosed in a fetus or newborn.

Diagnostics

In the first trimester, the definition of Down syndrome during pregnancy is carried out using. But the probability of error will be increased compared to laboratory tests that are carried out in the second trimester.

If the ultrasound results obtained are positive, for example, the fetus has gross developmental pathologies similar to signs of a chromosomal disorder, the woman is invited to undergo additional, more accurate research methods.

Additional studies are carried out if the analysis for Downism during pregnancy showed a doubtful or positive result.

These include:

amniocentesis - amniotic fluid is taken for research, with the help of which it is possible to determine the chromosome set of the unborn child in a laboratory;
chorion test - a piece of tissue is taken for diagnosis;
cordocentesis - cord blood is taken through the skin barrier.

It is worth noting that not all women agree to tests for Down syndrome during pregnancy, worrying about the possibility of spontaneous miscarriage during manipulation. It turns out that they are ready to become the mother of an unhealthy child rather than be left without him.

How long does a screening test take?

To determine the signs of Down syndrome during pregnancy, screening diagnostics is carried out at the following times:

Chorionic biopsy - 10-12 weeks. The result will be obtained in a few days, the procedure is dangerous with the risk of spontaneous abortion - in 3% of cases.
Placentocentosis - 13-18 weeks. The result in a few days, the risk of miscarriage is the same.
Amniocentesis - 17-22 weeks. The risk of miscarriage is 0.5%.
Cordocentesis - 21-23 weeks. The risk of miscarriage is 2%.

With a high degree of probability, it is possible to judge the presence of this pathology in the unborn child by the results of ultrasound if gross anatomical disorders are detected.

These include the following signs of Down syndrome during pregnancy:

Enlarged nuchal space, which may occur due to a thick neck fold or accumulation of fluid on the back of the fetal neck. Normally, this indicator should not be more than 2.5 mm with transvaginal ultrasound and 3 mm when performing the procedure through the abdominal wall. Ultrasound during pregnancy for Down syndrome is not carried out specifically, since during the manipulation the general condition of the fetus is assessed, other anomalies of its development are diagnosed, therefore, all women undergo it routinely from 10 to 13 weeks without fail.
The length of the bones of the nose of the unborn child is estimated in the second trimester. Every second child with Down syndrome is characterized by hypoplasia of the nasal ossicles. Also during ultrasound, an increase in the bladder, a decrease in the maxillary bone, tachycardia of more than 170 beats per minute, changes in blood flow in the venous duct can be detected.

If an ultrasound on Down during pregnancy detects one or more signs of deviation, this does not mean that the result is 100% reliable. In this case, the woman will be sent to the tests listed above, the results of which will be as accurate as possible. Ultrasound at the end of the first trimester most accurately determines the risk of pathology and helps to take appropriate measures.

There is also a venous blood test for Down during pregnancy, which consists in determining the concentration of the hormone and alpha-fetoprotein. Alpha-fetoprotein is a protein compound synthesized by fetal liver cells. A low concentration of this protein indicates the presence of Down syndrome, just like hCG. Diagnosis is carried out for a period of 16-18 weeks.

Is it worth doing it?

Screening is highly recommended for women over 35 years of age, if the child's father is a close relative, or if she has had children with a chromosomal abnormality in the past. Also, the doctor may refer a woman who has received radiation, x-ray or other exposure in the recent past for screening.

In addition, diagnosis is mandatory for expectant mothers who become pregnant against the background of a viral or bacterial pathology, who have in the past, or who took illegal medications at the time of conception.

If one of the diagnostic procedures indicates signs of Down syndrome during pregnancy, the woman has the right to interrupt it at her own request up to 22 weeks.

Of course, the likelihood of spontaneous abortion in the course of research can be an unpleasant price to pay for the correct result, especially if the child does not have this diagnosis and he turns out to be healthy. Therefore, not all women agree to be tested for Down signs during pregnancy.

Even if, due to moral or religious beliefs, the expectant mother knows for sure that she will not terminate the pregnancy if the baby’s deviation is confirmed, in any case, everyone needs to undergo a diagnosis without exception. At least in order to find out the truth about the health of your child in time and mentally prepare yourself and your loved ones for his birth, if he turns out to be special.

Prognosis with a confirmed diagnosis

According to long-term observations, children with this diagnosis develop differently. The severity of their intellectual and speech developmental delay does not depend on the existing congenital pathology, but on the individual contribution to a particular child. That is, children with Down syndrome are trainable, it's just that this process is harder for them than for healthy peers, hence the lag.

Experts believe that with appropriate care and treatment, the prognosis will be as follows:

with a certain delay, but the child will learn to speak, walk, master the basics of literacy, that is, he will be able to do what many can do;
there will definitely be speech problems;
education can take place both in a specialized and in a general education school;
marriage unions are possible;
half of women with Down syndrome can find the happiness of motherhood, but half of these children will be born unhealthy;
at present, the average life expectancy of such people is 50 years;
their risk of cancer is reduced to a minimum.

It is difficult to predict what a child born with Down syndrome will be like. Everything is very individual. Future parents who decide to leave the pregnancy can be guided by the predictions of this gene deviation listed above.

Is it possible to prevent the appearance of this pathology in an unborn child? Unfortunately, there are no preventive measures to prevent this deviation.

But doctors advise not to ignore the following recommendations:

undergo a consultation with a geneticist before and after conception;
give birth to children under 40;
take multivitamins, including folic acid, at the stage and in the first trimester.

It is important to understand that no one is to blame for the conception and birth of a special child. This is just an accident of nature, a chromosomal error. Because of her, extraordinary children come into our lives - bright, kind, trusting. And to accept such a baby into your family or not - each family decides individually.

Useful video about the diagnosis of Down syndrome during pregnancy

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