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 those with Down's syndrome, is very likely. 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 stand 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 can be used to count the number of chromosomes in a child's DNA even in the early stages of gestation - for this, they take an analysis of fluid from the umbilical cord, conduct a biopsy, alternatively non-invasive methods can be used - special ultrasound (screening) or 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 for women over 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 to whom such children are born more often. Accordingly, even the presence of all the described reasons - not a guarantee, but only an increased risk of having a baby with impairmentsbecause the specificity of gene mutation has not yet been fully understood.
In general, experts point to such factors that allegedly increase the likelihood of a down birth:
- Late age of conception... First of all, it is more difficult for a mother to give normal offspring with age - it is believed that after 35 years of gene mutation in a woman in labor becomes much more likely. However, men should not relax either, just the "threshold" for them is slightly higher - it is 45 years old. In general, experts point to such factors that supposedly increase the likelihood of birth down
- 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 suffered from this syndrome. Moreover, a completely opposite situation is also possible, when two down children can have healthy children - there is no direct transmission of the mutation; however, one must take into account that a sick boy is usually sterile from childhood, although not always.
Nevertheless, 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 conceiving.
- Incest. Human reproduction, which requires the obligatory participation of two people, is organized in this way so that the child receives different genes and is adapted to a larger number of factors of the external world. During sexual intercourse between close relatives, the sets of genes obtained from both parents are very similar, so a mutation mechanism is turned on, trying to "invent" adaptation to a greater number of external stimuli. The result in most cases is serious disorders - in particular, Down syndrome.
- Increased solar activity. It is believed that a cosmic cause can also affect the formation of an ailment, which can be resisted in only one way - 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.
Patient characteristics
Children with Down syndrome are very similar to each other due to the similarity of the gene code, but they still do not look the same, because everyone is also similar to 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:
- A very flat face and a very flattened nose.
- A slightly slanted eye section 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 the Mongoloid.
- The skull appears to be short, the occiput is sloping 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, as is typical, they almost always keep their mouth slightly open.
- The muscles are characterized by weakened tone, and the joints fix the position less reliably.
- There may be a transverse fold on the inside of the palm, often an abnormality of the little finger in the form of an unnatural curvature is observed.
If an unusual appearance has little effect on normal life activity, then another problem is internal pathologies that regularly accompany Down syndrome. Nowhere is it specified how many years "sunny" children live, because their life expectancy largely depends on the degree of development of such concomitant pathologies.
In general, the life span of downs is comparable to the life span of healthy people with diagnosed similar pathologies, namely:
- Congenital heart disease (typical for 2/5 downs).
- Internal secretion disorders.
- Skeletal pathologies - both serious (absence of one pair of ribs, deformation of the chest or pelvis), and simply noticeable (short stature).
- Respiratory pathologies caused by a disturbed structure of the nasopharynx and other upper respiratory tract.
- Malfunctioning of the gastrointestinal tract, impaired fermentation.
- Disorders of the senses - reduced hearing ability, vision 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, in a special way shining eyes, as well as for the amazing sincerity of their smile.
It should be noted that such an appearance cannot be called deceiving - the downs are really distinguished by their kindness, which could set a worthy example for many healthy people.
General developmental features
Since Down syndrome is a gene 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 even during pregnancy, it is important in infancy to carry out a full diagnosis for the associated disorders described above. With constant supervision of specialists and a properly built course of medication the differences from a healthy baby will no longer be so obvious.
An important point is the retarded development of the child - both mental and physical. The lagging behind normal children by months is noticeable already in infancy, because a down-child can only hold his head 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 he will learn to walk on his own.
However, these terms are indicated for those children who, despite the syndrome, were brought up in the same way as normal children. If the diagnosis was made in a timely manner, 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, just a little more effort will have to be made. Of course, it's worth starting with exercises aimed at developing fine motor skills, because this is a progress not only for the muscles, but also for the brain. Massage is also considered to be a very effective way to improve the physical condition of a sick child.
Learning literally everything is a little more difficult than for other babies, so parents will have to put in more effort 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 barrierthat a child may have when he realizes that he is different from other children. If there is any speech impairment, it must be eliminated as soon as possible - this will make it easier to establish normal communication in kindergarten. Basic self-care skills will help the child not to depend on the help of others, which will also help to increase self-confidence.
Specificity of physical development
Children with Down's syndrome are practically cut off from the path to big sports - they have poor physical development, and in general they weigh a little. Wherein physical education for them is almost more important than for healthy children, because this is the only way to strengthen a weakened body.
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, a tendency to cracking in the cold.
Perhaps the most common developmental pathologies are the heart and the circulatory system as a whole. Heart defect is observed in almost half of all those suffering from Down syndrome, noises are heard in the heart rhythm, and a disrupted valve function is a characteristic phenomenon.
The lungs are usually formed correctly, deviations are relatively rare and superficial. At the same time, due to the pathologies of the neighboring heart, high blood pressure is recorded in the lungs of the downs. Scientists also believe that the disease provides increased predisposition to pneumonia.
Weak muscle tone is especially noticeable on the abdomen - it bulges noticeably compared to the chest, which could be a variant of the norm 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 rest of the internal organs practically do not change under the influence of chromosome 47, except that the genitals may differ in a slightly smaller size than in other children of the same age and build; boys are usually sterile.
Feet and hands are slightly irregular and appear to be shortened and widened. On the hands, the pathology of the little finger bent forward is clearly visible (if you fold your hands at the seams), on the legs the big toe turns out to be 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 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 lack of coordination of movements is typical for downs - one gets the impression that they are not very good at controlling their body, but this is how it is, by the way. Since the musculoskeletal system is weakened, the likelihood of injury increases.
The described violations are very common among children with this ailment, but they do not necessarily have a pronounced character. Individual points 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 a completely different nature of these phenomena. Downs have a problem with their inability to capture a wide perspective and focus, but they can devote significant efforts to solving one small but very complex problem.
Although their level of education is usually criticized for such absent-mindedness and detachment, there are cases when famous scientists in the field of mathematics grew up from a "sunny" child.
Kids with such a 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, frightened by the others, but the down, it seems, 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, so he usually does not react.
Wherein intellectual development stops at the age of about seven yearsm - unless, of course, you contribute to the further development of the little patient. By this point, he usually already speaks, but does not know many words. The patient does not differ in special attention, his memory works rather poorly.
Prolonged bouts of crying are characteristic, although there is no apparent reason for this.
Although concentration and attention are generally weakened, there are things that literally fascinate children with Down syndrome. These include, in particular, freely jumping balls, although a sick child, in contrast to a healthy one, does not show any excitement or desire to play himself. In general, babies with this diagnosis tend to concentrate their attention on something that does 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 weirdness, 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, since only here children will be able to acquire the necessary interaction skills in society. Socialization is allowed in the most ordinary preschool childcare 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 games are needed, which also stimulate communication and the development of higher nervous activity. At the same time, the baby is more awkward than healthy children, and is prone to injury, which teachers must take into account. Physical therapy can also help as an alternative.
To improve auditory sensitivity, use music games and lessons, which also develops personality and physical activity.Since speech disorders are common, the presence of a qualified speech therapist in preschool is mandatory.
A full-fledged upbringing of a personality is impossible without a properly structured psychology. Children with Down syndrome are encouraged to interact with others in literally everything - even toys here are often predominantly shared rather than individual.
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 qualifying level of education for such children usually implies graduation from an educational institution of this type. It is noted that preliminary education in kindergarten is very helpful for such a child to get used to 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 will most likely study much worsethan most of his comrades. Downu does not sit still, he does not know how to react quickly and focus his attention, he does not remember information well.
People creating a training program for such a child will have to solve a number of difficulties:
- Motor skills are underdeveloped, therefore, complex, especially small and precise movements will have to be completely eliminated or at least made so that they do not affect the grades.
- Down often has certain problems with vision and hearing, so some of the visual and sound information may be inaccessible to him, even with all the desire. Nevertheless, the enormous role of visual teaching methods is noted - not being able to imagine well and “catch on the fly,” the “sunny” child perceives well what he saw in action.
- Problems with speech have a deep mental implication, that is, the child cannot formulate his thought not only out loud, but even in his head. He thinks to think, but, in a sense, does not speak his native language well, therefore he cannot be judged by his ability to express thoughts both orally and in writing. Because of this, it is rather difficult to objectively assess the level of his knowledge.
- Children with Down syndrome have a severely underdeveloped thought process - it is quite difficult for them to draw their own conclusions. Such a child needs to literally 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 rebuild, solving a similar, but still not such a problem.
- Memory is very limited, a "sunny" child needs much more time to thoroughly memorize information.
- A special student is very distracted by any extraneous phenomena, and even gets tired very quickly, therefore, ideally, you need to build the educational process in such a way that not a single task is too long and exhausting.
- The perception of information is fragmented, individual facts or characteristics of a phenomenon are considered as unrelated to each other, which interferes with the perception of patterns.
- Even complaisance and goodwill can interfere with the normal learning of children with Down syndrome! Although they are very obedient and willing to complete assigned tasks, and also have a non-confrontational behavior, such children are not at all inclined to get upset about their own omissions. This has a positive effect on their mood, but it completely kills any incentive, 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 - the child is not to blame for being 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 to close, and then move, albeit slowly, to the final goal.
Rehabilitation
Since society stopped considering children with Down syndrome as outcasts, people have been able to clearly see the action 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 in comparison with many healthy people.
Success is sometimes noted even in those spheres of activity where it seemed impossible - downs are artists and even athletes (but what about the awkwardness of movements and general weakness?), Actors and models (where did the lack of communication go?), Lawyers and businessmen (supposedly being unable to learn and see the whole picture).
Although there are no super-famous personalities among the Downs, it is worth highlighting at least Pablo Pineda - he was able to get a higher education and starred in the sensational feature film "Me Too" (about problems similar to his), and in the end chose the activity of a teacher and a public figure.
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 correct patient upbringing, teaching how to behave in society and how to occupy yourself 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 that the diagnosis is not a sentence, but only an increased need for a friendly environment.
For other interesting facts about children with Down syndrome, see the following video.
