Down syndrome: experience, myths, overcoming. A special child looking for a family: Down Syndrome
Posted by Lizaveta Thu, 03/17/2016 - 00:00
Description:
Publication date:
15/03/16
Copyright holder:
Charitable Foundation "Downside Up"
WHAT IS DOWN SYNDROME
Down syndrome was first described in 1866 by the British scientist John Langdon Down and was substantiated in 1959.
According to statistics, one child out of 700-800 newborns is born with Down syndrome. This ratio is the same in different countries, climatic zones, social strata. It does not depend on the lifestyle of the parents, their health, age, bad habits, nutrition, wealth, education, skin color or nationality. Boys and girls are born with the same frequency. Parents at the same time have a normal set of chromosomes.
CAUSE OF DOWN SYNDROME
Each cell of the body of an ordinary person contains 46 chromosomes, making up 23 pairs. The process of formation of germ cells containing 23 chromosomes is called meiosis.
The human body is extremely complex, and when a new life is born, deviations sometimes occur in the process of meiosis. If the chromosomal set of the fetus differs from the usual, then this entails certain consequences. For example, in a fertilized cell, there are not 46, but 47 chromosomes. In this case, in the process of meiosis, one of the paternal or maternal chromosomes - the twenty-first - formed the so-called trisomic zygote, and trisomy -21 arose, that is, Down syndrome.
BABY WITH DOWN SYNDROME
It is impossible to accurately predict what a child will become when he grows up. This applies equally to any newborn, including a baby with Down syndrome. It is important to remember that such a baby, despite certain features, will develop, begin to coo and laugh, crawl and walk, communicate with his parents and other people, express joy and sadness. He will learn to eat and drink, wash and go to the toilet, dress and undress, help around the house, protect himself and take care of others, find friends and hobbies. It is very important that children with Down syndrome attend kindergarten and then school. And recent years are just characterized by the fact that children have this.
The presence of an extra chromosome causes a number of specific features inherent in most people with Down syndrome.
I would like to draw the attention of parents to certain aspects of the growth and development of a child with Down syndrome, since some features and problems can go unnoticed for quite a long time and have a negative impact on the development of the baby. Knowing about such "weak points", parents can keep them under control and seek help from specialists in a timely manner, create conditions for preventing their consequences.
Features of the structure of the head, face and body:
Head may be slightly flattened at the back in children with Down syndrome . A little later than in other babies, the fontanel may close. Later closure of the fontanel does not require any additional measures.
nasal passages can be narrow, so they are often clogged with mucus, and then the child breathes with his mouth slightly open. This type of breathing dries out the lining of the mouth and lips and increases the risk of new respiratory diseases. It is very important to keep the child's nose free of mucus and to encourage the child to breathe properly from an early age. You can help this by washing your nose with a pipette or a syringe without a needle, filling them with saline or boiled water with the addition of salt at the rate of 1 tsp. salt per liter of water.
Small mouth, high and narrow palate, relatively large tongue, reduced tone of the muscles of the face and mouth lead to the fact that children stick out their tongue. There are simple measures that help eliminate this feature by teaching the child to keep the tongue in the mouth.
For this purpose, the following methods and techniques are used:
- muscles of the face and mouth
- Proper organization: sucking - strengthens the circular muscle of the mouth and tongue; biting - teaches the child to put the tongue in the mouth; chewing food forms lateral movements of the tongue (as opposed to movements back and forth, as happens with sucking). Proper use of a spoon allows you to slide your tongue into your mouth, and drinking from a cup teaches you to close your mouth and swallow saliva.
Arms and legs
The limbs of a baby with Down syndrome may be slightly shorter than those of a normal child. The fingers and toes are also shorter. The palms are quite wide, they are often crossed by solid transverse lines-folds, the little fingers on the hands can be slightly curved. All these are successfully compensated by special classes for the development of fine motor skills.
Height
Newborn babies with Down Syndrome are slightly smaller than normal babies, and the growth curves for normal babies that are used in our clinics are not suitable for them. A child with Down syndrome grows and gains some weight. Growth rate varies with age.
Decreased muscle tone and overly mobile joints
Almost all children with Down syndrome have reduced muscle tone. In medicine, this phenomenon is called hypotension. With hypotension, the muscles are relaxed, and it is more difficult for the child to move actively, so it is very important to take the child in his arms, give him a maternal massage, and play outdoor games. The so-called active type gymnastics is very effective when the child himself is active, and not a specialist. Special gymnastics () for children with Down syndrome was developed by the Dutch physiotherapist and author of the methodology for assisting children with Down syndrome Peter Lauteslager. With regular exercises that stimulate motor development, with age, hypotension is compensated by developing balance and strengthening muscles.
MEDICAL PROBLEMS
Not everything listed below is necessarily characteristic of every child with Down syndrome. But the occurrence of such problems is possible, and parents need to monitor the regular examination of the child.
Vision
With Down syndrome, there are a number that require treatment and correction.
Features of the structure of the lacrimal canals can sometimes lead to conjunctivitis and lacrimation. Conservative therapy in these cases, as a rule, is to massage the nasolacrimal sac and treat conjunctivitis with topical antibiotics.
Quite often there is strabismus. Due to the hypotension of the eye muscles, it takes them longer to learn to coordinate their eye movements. This process can be accelerated by doing special exercises with the baby, which will be discussed by an ophthalmologist or a special teacher.
Quite traditional for our society, myopia and farsightedness also do not bypass children with Down syndrome. These visual distortions can be corrected with glasses.
Sometimes babies with Down syndrome have other eye diseases, so they need regular monitoring by a specialist.
Hearing
Children with Down syndrome may have hearing loss. This may be due to infectious diseases of the ears, but congenital hearing loss is also possible. In about a third of cases, hearing loss is insignificant and does not require special medical measures, but you should definitely know about such hearing loss! From the first year of a baby's life, it is necessary to regularly monitor the state of his hearing, since missed problems can negatively affect the overall development, in particular, the development of speech. There are those that allow parents to conduct an initial examination. If concerns are confirmed, seek professional help.
If treatment is needed, it must be done. Medical appointments in these cases are almost the same as for ordinary children.
Obstructive sleep apnea syndrome
The structure of the upper respiratory tract in Down syndrome is characterized by narrowing of the nasopharynx and oropharynx, Eustachian tubes, and external auditory canals. During sleep, the child's muscles relax, and air access to the oropharynx may be partially or completely blocked by the root of the tongue. At the same time, the child snores, breathes intermittently, often wakes up or takes a specific position in a dream (the head is noticeably thrown back, older children can sleep sitting). This phenomenon is called apnea. The presence of sleep apnea leads to lethargy and sleepiness during the daytime, reduced rates of physical development and deterioration in behavior, frequent crying and anxiety. To prevent sleep apnea, it is necessary to raise the head end of the crib by 10 degrees and, if possible, lay the baby on its side. In some cases, it is necessary to remove the child's tonsils or carry out other medical measures.
Leather
The skin of babies with Down syndrome is less elastic, drier and rougher. Among these children, exudative diathesis is not uncommon, and the skin is more prone to cracks.
To increase blood circulation, and therefore “revive” the baby’s skin, it’s good to use “maternal massage”, which an early development specialist can tell you about, as well as to shake the baby, turn him over from side to side, bathe regularly, using special oils. (vaseline, peach, etc.).
Teeth
In general, milk teeth in children with Down syndrome last quite a long time, so they “wear out” more. Due to the reduced tone of the tongue, the chewing process is more difficult for children, and food debris is worse removed from the teeth. Giving your child a little plain water after each meal will help wash away any leftover food.
By the way, children with Down syndrome often creak their teeth, and parents should keep in mind that such creaking has nothing to do with the presence of helminthiasis (the presence of worms).
For the prevention of dental diseases, it is necessary to pay due attention to the oral hygiene of the child and, of course, visit the dentist regularly.
Thyroid
Some children with Down syndrome have an imbalance in the hormones produced.
There are certain signs that suggest that the functioning of the thyroid gland is impaired. These include:
- weight gain in the absence of growth;
- lethargy, lethargy, a noticeable decrease in the speed of response;
- loss of appetite, permanent;
- hoarseness of voice, thinning and brittle hair, dryness and peeling of the skin.
Digestive organs
For most babies with Down syndrome, the digestive organs work normally, but sometimes there are still problems in this area, and this requires a visit to the doctor.
Hypotension of the intestinal tract can cause constipation. When the child grows up and begins to move more, muscle tone gradually increases, and these types of problems are resolved naturally.
In the case of more serious violations, the necessary medical assistance is provided in the same way as with all children.
The motor development of children with the syndrome is somewhat slower, it is more difficult for them to master coordinated body movements. It is very important to make sure that the baby regularly acquires motor experience. The latest recommendations offer maternal massage and active type gymnastics.
Organization of feeding
Babies with Down syndrome, like all children, are breastfed.
Despite some structural features of the maxillofacial apparatus and reduced tone, breastfeeding is possible, like all babies. Breastfeeding not only provides the best nutrition for the baby, but also strengthens the immune system, prevents otitis and develops the muscles of the face and mouth.
In addition, breastfeeding helps the mother to establish a very good emotional contact with the child. The time and effort put into getting your baby to suckle is definitely worth it.
The correct introduction of solid food helps to stimulate the organs of articulation of the child, which means that it has a positive effect on the development of speech. You can read about how to help a child with Down syndrome learn to chew and eat with a spoon.
You should be careful about the possible allergic reactions of a baby with Down syndrome to certain foods, especially cow's milk, and wheat.
MEDICAL ASSISTANCE and MEDICAL EXAMINATION SCHEDULE
Children with Down syndrome are more likely than ordinary babies to be prone to certain diseases, so it is important for parents to maintain contact with a pediatrician and other medical specialists for timely examination of the child and his treatment, if necessary. Unfortunately, not all pediatricians and other specialists of outpatient departments are sufficiently familiar with the developmental features of children with Down syndrome, so it is useful for parents to have an idea of the examinations their child needs in order to correctly navigate the appointments of the attending physician.
Many of the medical examinations listed here are for all babies, but for a child with Down syndrome, all of them are especially necessary.
We provide a table that will help you organize the necessary things in time. We recommend that you print this table in two copies, keep one for yourself, and give the second to the pediatrician for pasting into the children's card.
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SPECIFIC MEDICAL MEASURES
Deviation in the chromosome set at this level of development of medicine has not yet been cured. It is quite natural that the parents of a baby with Down syndrome do their best to help him, so it seems appropriate for us to dwell very briefly on some types of special medical measures that are being taken in world practice.
Medical stimulation of people with Down syndrome is a controversial issue. Until now, there are no methods that are reliably useful and not harmful, here are examples:
Cell Therapy.
In the 1960s, special studies were carried out on this method, during which it turned out that the effectiveness of cell therapy was not conclusive and that its use increased the risk of allergic and shock reactions, as well as increased the risk of transmission of sluggish viruses.
In the late 1980s, in Germany, for example, this therapy was banned by law..
Vitamins, minerals and other compounds
Down's Syndrome has been repeatedly treated with various combinations of vitamins, minerals, hormones and enzymes, as well as with the help of what is now called nutritional supplements. Studies conducted in the 1980s of the twentieth century did not reveal a noticeable positive effect of such therapy. And although children with Down syndrome, like all other children, need vitamins, minerals and other elements, experience shows that extremely high doses of these compounds do not improve the mental state of children with this syndrome, nor the functioning of other body systems.
PSYCHOLOGICAL AND PEDAGOGICAL ASSISTANCE
The development of a child largely depends on how and how timely conditions were created that are optimal for the formation of skills.
At present, in addition to methods and development programs developed by foreign experts, DSA specialists have adapted and developed methods that take into account foreign and domestic experience.
The main principles underlying these programs are as follows:
- A child with special needs develops in accordance with the general laws of development.
- There are developmental features that must be taken into account when drawing up a program for the education and upbringing of a child.
- Children with Down Syndrome need more repetition to master a particular skill. The learning process should go gradually, it should be broken down into small steps.
- Training should be carried out in the form of daily activities, games, gaming activities.
- The role of parents in the process of stimulating the development of a child with Down syndrome is very large, since it is they who will daily carry out the necessary assistance in the acquisition of new skills by the child and their development.
Development directions The need for an early start of psychological and pedagogical assistance to children with special needs is now recognized by most researchers and specialists. And this is due not only to common sense (“the sooner the better”), but also to the significant positive experience of early intervention services abroad and in our country.
From the first weeks of a child's life, the following aspects of development are in the sphere of special attention of specialists:
- Sensory development: development of all kinds
- development of large (general) motor skills
- development of fine (fine) motor skills and visual-motor coordination;
- development of cognitive activity (cognitive development);
- The development of speech, the formation of communication is organized from the birth of a child, based on visual perception, which is a strong point of development, in particular, the use of gestures, global reading.
- the formation of social skills and self-service skills, which in recent years are considered as the most important condition for the development and socialization of children and adolescents. You can get acquainted with the new - competency-based - approach by reading the following and.
Drawing up a training program. Based on observations of the baby and conversations with parents, specialists draw up an individual training program for him, which can be implemented at home. The implementation of this program by parents, its inclusion in everyday life helps kids achieve good results both in learning and in social adaptation. Parents themselves can observe the dynamics of development.
For almost two decades, the Family Support Center, established under the Downside Up Charitable Foundation, has been working in this direction, which has developed an integrated approach to child development.
The Downside Up Family Support Center provides free psychological and educational assistance to families raising children with Down syndrome from birth to 7 years of age. When contacting the Center, parents can receive the help of a psychologist and special teachers. They have the opportunity to take a direct part in the pedagogical examination of the child and discuss with specialists issues related to his development and education.
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Every parent wants to do the best for their child. When a baby with Down syndrome is born, parents and loved ones strive to use all means available to them to help him.
Downside Up's extensive experience with families raising children with Down syndrome allows us to draw your attention, dear parents, to the need for close attention not only to the child's health, but also to activities aimed at teaching your child motor and communication skills, at developing his cognitive activity, speech and many different skills and abilities necessary for everyday life at home and in the big world!
Please remember that most of all the baby needs your company, your joy and love, sincere and reasonable care and help, acceptance and participation!
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The main issue in the life of a teenager with Down syndrome is study and work. While they are busy, they develop, as soon as they begin to “stay at home”, degradation begins.
Bullfinch. Lera's drawing
There are four children in the family of Nikolai Egorov. All girls. The youngest, Valeria, was born with Down syndrome. Now she is eighteen.
For eight years, Nikolai has been raising children alone: his wife died suddenly. Two older girls got married, and the fate of the younger one inspires concern: Lera will be left alone and what will happen to her?
If downers "stay at home", they degrade
Valeria at her sister's wedding ceremony
- Children with Down syndrome are usually referred to as sunny children. And sometimes it seems that they go too far in this topic into the sunshine, as if there were no problems at all. But do they exist?
- The appearance of a child with Down syndrome in our family was a complete surprise - this was the first problem. This is currently being diagnosed. And at that time, 18 years ago, none of the doctors could say anything. Probably, such was the level of medicine. One doctor I knew said that in the West a specialist who did not reveal such an anomaly on ultrasound or on tests would be immediately fired for incompetence.
I saw my daughter just a few hours after giving birth. She lay in an incubator, with an oxygen mask, as she could not breathe on her own. She was suspected of having a severe heart defect. The hardest thing was listening to doctors' reproaches about "elderly parents" (I was 37 then, and for the first time I realized that we were no longer young) and their proposals to abandon the child. But there was no thought of that.
True, not all doctors were like that. According to his wife, one of them quite seriously reported that the child realized that no one was going to refuse him, and his condition improved dramatically. And soon Lera was baptized right in the maternity hospital (the sacrament was performed by Archpriest Alexander Saltykov) and she began to breathe on her own. And after some time in the hospital, the doctors found that Lera did not have a heart defect.
I took the birth of a sick child calmly. Everything was going too well in my life, but it can’t be that everything was only good, but good. The wife suffered more. It may seem ridiculous, but her mental well-being was relieved by the fact that she went to work just a couple of months later, and numerous trips related to her work (tourist business) helped her to endure the first shock.
I had to sit with the child. To be honest, by that time I was already tired of work: I had been working since the age of 16, the experience was already more than 20 years, while at the same time I studied at the evening department of the institute for six years and for four years in correspondence postgraduate studies. The change in lifestyle brought me great joy, although financially it became harder. In recent years, I have been the head of the department of the Russian State Military Archive, with all the ensuing benefits. I had to quit my job and actually start a new life.
Of course, when they start talking about children with Down syndrome, they talk about them as sunny children. And they really are. It seems to me that this covers many of the difficulties that such children have. This is especially felt when the children grow up. In this regard, our Lera is amazing.
But in general, each downer, like any of us, is individual. Many children with Down syndrome suffer from severe physical illnesses that accompany the syndrome. For example, heart failure. This affects the overall development.
Lerochka, except for speech, and she spoke very late, developed like an ordinary baby. At six months she began to crawl, sit, at a little over a year she went. She went through all the stages at about the same time periods as ordinary children.
Of course, in children with the syndrome, some processes are slower. Our development is not a movement in a straight line, but in steps. Overcoming the "steps" sometimes takes an order of magnitude longer for downy than for healthy people. Starting from early childhood: the period of harmfulness began in the child, when all things were pulled out of the cabinets and scattered on the floor. For ordinary children, this lasts a month, two, and for downy children - six months, a year. So it is with all subsequent periods of growing up.
cat and fish
In general, in my experience as a parent, I will say that such children do not need any special medical care, except in the case of concomitant somatic diseases (there are many of them: with the thyroid gland, internal organs, hearing, vision). The only help that is really urgently needed for people with Down syndrome is pedagogical.
Children with Down syndrome really need acceptance and love, but love is as active as possible.
This love should be expressed, first of all, in the development of the child. Because it is vital for them whether they develop or not, are engaged in them or not. And you need to do much more time than with ordinary children.
For example, Leroux had to teach elementary things for a long time: how to hold bread in his hand, how to eat with a spoon and fork. And so on increasing: how to draw, write. All this went longer and more difficult than with an ordinary child. Not just longer, but much, much longer.
It is fundamentally important for people with Down syndrome to be embedded in social structures. At a younger age - this is a garden, in youth - a school.
While they are studying, they develop, as soon as they stop and start staying at home, development stops immediately, degradation begins.
I sometimes observe that in large believing families where such children are born, and usually they are among the very last, they are surrounded by love. They literally bathe in attention and care. But it is in large families, for obvious reasons, that less attention and time is paid to the development of such children than in families where the child with Down syndrome is the only one. And in terms of mental development, problems sometimes begin.
Lera goes to school, studies music and drawing
- And how did you teach Lera, how did you choose a school for her?
- A school for downy is the most important thing, not even in terms of education (it is minimal), but in terms of socialization. The road to school, understanding of space and time - what is the city, route, transport, and so on. For Lera, this is an important daily journey.
Of course, I accompany her, because in Moscow it is impossible otherwise. This city is absolutely not adapted for the disabled. Moscow is not Vienna or Paris for you. It is hostile, and not only to the disabled.
A person with Down syndrome, specifically Lera, needs a lot of help.
I'm afraid that if she takes the subway herself, one fine moment she'll just be pushed onto the rails. People with Down Syndrome are defenseless in the aggressive Moscow environment.
Lerin's school is far from home, so you have to carry it. She studies at school No. 532 of the eighth type on Pyatnitskaya Street, 46. Now this school, as part of the optimization program, has become part of the educational complex - Small Business College No. 4. Lera has been studying there since grade zero.
The Lord so arranged that in this area there are churches of St. Nicholas in Kuznetsy and the Resurrection of Christ in Kadashi, whose parishioners have been our family for many years, since Soviet times. Literally opposite the school is an Orthodox publishing house, to which I moved and worked for a long time after the birth of Lera.
We sent her to this particular school, because at that time there were only a few educational institutions in Moscow that accepted children with Down syndrome for study. For many years, these kids were considered unteachable.
Now there are many fans of integration schools, common in the West, where several children with special needs study in a class with ordinary children. On the one hand, it looks good and beautiful, as in the West, but for our conditions it is not quite acceptable.
Firstly, for normal work in such classes, a larger number of teachers is required. Secondly, in order to make it easy for healthy children and children with problems to coexist, we need classes that are not very large. In addition, each problem child needs an individual tutor, assistant. Three problem children in the class need three helpers. And in our classes, where there are already thirty students, such a system simply cannot work.
Music lesson
Lerin's school is old, with a lot of experience. Both future teachers and students of various advanced training courses practice there. Qualified teachers work in it, because there are children not only with Down syndrome, but also with cerebral palsy, psychopathy and a number of other diseases. Each of these guys requires an individual approach and an experienced specialist nearby. It is quite difficult to achieve such conditions in a general education school.
- Who helped you raise Leroux?
– All these years, while Lera was growing up, a variety of people helped us: relatives, friends, parishioners from the temple. Society Down syndrome. And also Downside Up, which was organized by Americans who came from the other side of the earth. They have done much more to change the attitude towards people with Down syndrome in Russia than our native state.
They spent a lot of money and had nothing in return. It was in this center that for several years they were seriously engaged in the development of their daughter. 18 years ago, when Downside Up came into being, we were among the first to receive help there: later they helped us with Lera's placement in a kindergarten.
The garden was just an integration one, there were 15 children in the group (five of them with developmental disabilities) and five educators and assistant educators (those who are colloquially called nannies). And all these educators did not allow themselves a single rude word addressed to the kids, even when they were naughty. I remember that I was once told: “Lerochka is behaving very well, you just need to explain to her that she does not go to bed in winter boots.”
The most advanced training programs were applied. At that time, there were no domestic developments in this area. As far as I understand, Downside Up financially supported all this training, and very solidly.
The garden gave Lera a lot. Not only self-service skills, but also the basics of reading, writing, coherent speech. She worked with great professionals. Separately, Leroy and I studied music and drawing.
Lera studied piano for six years in a music class for children with special needs O.V. Prokhorova. Olga Vladimirovna, a teacher with extensive experience, has the education of both a musician and a teacher-defectologist. She has developed a unique method of teaching children like Lerochka. I must say that she is a very strict teacher, which is also important for such children, and her classes are very intense.
cat and dog
Lera and other children regularly performed at concerts, and this gave her great pleasure.
Lera mastered the basics of the game, musical notation and other musical wisdom, but most importantly, she fell in love with music, and it became a part of her life.
Lera loved to draw since childhood, and for the last few years she has been painting in the Art class of Olga Markina. Olga Vladislavovna is also an experienced teacher, her pupils have repeatedly become winners of various competitions. Last year, Lera became a member of the Russian Art Cup and received a diploma for her painting.
How to be beautiful is now the most serious problem for Lera
bear cub
- Does Lera have teenage problems: crises, any difficulties in relationships? How do you deal with it?
- Of course, there are problems, at least the notorious teenage stubbornness. But these problems do not exist in such gross forms as in ordinary teenagers. They are all softened, or something. You know, children with Down syndrome at some point start to look much younger than their age. Our Lera is now 18 years old, but looking at her, you won’t give her more than twelve. It seems to me that this reflects the essence of these people. They are, after all, sinless souls. They do not have the vices that are characteristic of their age, so they look younger. Because they look like that, they are treated like little kids.
But, like any teenager, she worries about her appearance, is concerned about who is the most beautiful girl in the class, who the boys in the class are looking at. That is, she has problems, like any other schoolgirl of her age.
You know how it happens when girls paint themselves as princesses, dream of a prince, of a wedding, of a beautiful dress that everyone would certainly see. Her experiences are concentrated somewhere in this plane. The older she gets, the more attention she pays to her appearance. In the morning he chooses clothes, and this is a whole epic: what dress to wear, what trousers or skirt, blouse? Compatible - not compatible.
She obviously expressed a desire to look elegant, beautiful.
Does your daughter discuss this with you?
- He discusses, but I see everything myself. Every day I accompany her to school, I come for her, I see her classmates, I hear their conversations, I myself speak with teachers. She is growing before my eyes, as all my children grew up. And this allows you to understand the complexities of her growing up.
There is one rather serious problem in our family: our mother died quite early, Lera was then ten years old. Of course, it would be better if my mother was engaged in many things, in particular, talking about clothes, appearance, and something else. Lera and her sisters are discussing something, but the sisters are already adults, two of them have their own lives and live separately. And then, with sisters, there can never be such mutual understanding as with mom.
- And about Lera's "personal life", maybe falling in love, so natural in adolescence, do you know something as a father?
This topic is not open to her yet. And I hope that this cup will pass us by. But love is a broad concept. This is not only the attraction of the sexes, as it is now customary to narrowly interpret this feeling. It is also love for relatives, for loved ones, for God.
I worry that if "falling in love" happens, these feelings can easily become primitive. In this matter, probably, a lot of spiritual help is needed. And, thank God, we have it.
You know, these children are very fond of the church. Lera began church life almost from birth. For her not to go to the temple is a grave tragedy. And if she came and did not take communion, she would cry bitterly. For her, it seems to me, as sometimes happens for some people, being in church, church life, faith is a state of mind. She confesses and it is incredibly important for her to participate in the Eucharist.
Lera is aware of her sins and tries to articulate them, although I think it is rather difficult for the priest to listen to her not very intelligible speech.
When she was younger, it was very difficult to hold her back during the whole service, she stood and asked every minute, burning with impatience, when would Communion be. And after Communion, she rejoiced and could shout to the whole temple: “Hurrah! I took communion." And then, almost dancing, like King David, she went for a drink after Communion.
Does Lera have friends?
There are a few guys she hangs out with at school. But outside the school is no longer there. My daughter had one very good school friend - Vika. She does not have Down syndrome, but other problems. They were friends for several years. But at some point there was no one to take Vika and, much to my Lera’s frustration, she was taken away from school.
They don't talk on the phone because both of them speak rather badly, especially Vika. And it’s impossible to meet, because the girls live far from each other.
In general, loneliness is the main problem of such people. They are really very lonely, because they are not married, do not marry, do not have children. This is depressing and very frustrating for them. Of course, this moment needs to be somehow compensated, to create an opportunity for communication. But the numerous social beliefs that exist do not contribute to this at all. So far, we have been able to communicate only within the family, with relatives, friends in the parish.
I'm afraid of the future for Lerino
- Here Lera will finish school, and then what?
- But this is the most painful question!
Now Lera is finishing tenth grade. But the school situation is difficult. The state saves money, so children in secondary school can only study until they are 18 years old. Since Lera is studying in the structure of the college (that is, she receives secondary specialized education), she will be able to extend her education for a few more years.
She studies with great pleasure. In the future, I would like to become a landscaping specialist. She likes to plant grass and flowers.
Their college education is very good.
But the main problem of all these children is the lack of future employment prospects.
For example, my Lera is a disabled person of the first group. This means that she is not allowed to work. And since she cannot work, the state is not interested in her getting some kind of professional education.
- In Russia, if I'm not mistaken, there is only one such lucky person, a working person with Down syndrome - Masha Nefedova, who cooperates with Downside Up?
- There is also Nikita Panichev. Cook, great musician and singer. Lera studied music for quite a long time, more than six years, with the same teacher as Nikita. And I have often heard him sing and play. It's wonderful. Nikita received the specialty of a cabinetmaker and works. There was even a TV show about him.
And yet, my Lera is also studying, so I hope that she will be given a profession.
And then, I don't know. I can't imagine how many more years must pass before they realize at the top that the development of a disabled person, his condition is important to the state itself. Will a person with developmental disabilities be bedridden like a vegetable, or will he be able not only to serve himself, but also to be a useful member of society. Is there a difference?
After all, what is our scenario for the life of a child with a syndrome?
Here is a sunny child. Late and only. Lives happily with his parents. If the parents die, then he ends up in a psycho-neurological boarding school (PNI). And his relatives, if any, quickly divide the property: an apartment, a car, a summer house.
But people with Down syndrome are of great value. For example, they are excellent nurses. And in the West it has long been appreciated. They actively attract such people as nurses in hospitals and nursing homes.
That is, to such a dirty, routine and not very prestigious job from the point of view of normal ordinary people. People with Down syndrome enjoy working in these places and do not complain.
For example, our Lera loves to work with her nephew and take care of him. But if in a large family such a person always finds something to do, then in the case of single people, the path is blocked.
Of course, we discussed the future at Lerino's home. And the older daughters promise me that they will not leave her. Let's hope that this will be the case. But you understand that no one can give any guarantees.
For example, I think that Lera could plant lawns somewhere near the church ... And how will she get there when I'm not there? You see, the issue of employment, employment of a person with Down syndrome is complex.
It is not easy for a person with a syndrome to get to his place of work through our big city. After all, parents, no matter how much they love their child, are not eternal. And I'm afraid that in our conditions a person with Down's syndrome simply won't be able to lead an independent life.
Bunnies in the forest
A person with Down syndrome needs help to lead an independent life. He needs a guide. And it should not be a civil servant who is able to bend a stick only in one direction. I personally see here the prospect of assistance only from charitable foundations. There just isn't anywhere else.
Very often, cheerful and kind people with slanted eyes and round faces cause pity or even misunderstanding in society. But few people know that people with Down syndrome need not only love and protection, but, first of all, support and understanding. There is a completely unjustified opinion that people with this syndrome are absolutely not adapted to life, cannot study normally, and also achieve career heights. It's not like that at all. There are many famous people with Down Syndrome who have been able to achieve social recognition and become famous.
Deciphering the diagnosis
The syndrome is named after the physician John Down, who first identified similarities in behavior, mental abilities and manifestations of emotions in people with some features in the structure of the tongue and skull. The disease was officially named in 1965.
The physician and scientist John Down had been working at the Ersud Royal Asylum for insane patients since 1858. His main goal was to prove that classes with children with can lead to positive results. He founded the Normansfield Developmental Center, which was dedicated to children with genetic disorders and diseases.
"Sunny children" with Down syndrome are named so because of their positive thinking, love for all living things, the ability to make friends, empathize and sympathize with people around them.
Down syndrome is a change that occurs in the body at the genetic level due to an increase in the number of chromosomes. Instead of full-fledged 46 chromosomes, nature gives such people 47 chromosomes, it is in the twenty-first pair that they have an extra chromosome.
According to WHO statistics, 1 out of 650-700 babies is born with this problem. At the same time, the number of male and female children with such a pathology is at the same level.
The chance of having children with Down syndrome begins to grow rapidly with the age of the mother, but 18-year-old girls are not immune from the appearance of a baby with such a genetic abnormality. It is believed that the risk of having a child with this problem increases in a woman in labor over the age of thirty-three.
There are three stages of the syndrome:
- trisomy;
- mosaicism;
- Translocation.
Symptoms of the disease:
Despite the large number of physical differences with ordinary children, people with this syndrome are cheerful, naive, open and friendly. It is often said about them that they do not know how to lie. This feature is related to their psyche.. Most of the sunny people have a well-developed ear for music and are very fond of making art.
Disease types
The pathology is also called trimosomy on chromosome 21. This means that down children inherit instead of two twenty-first chromosomes - as many as three. Most often, two copies are inherited from the mother and one from the father. So, as a result, instead of 46 standard chromosomes, downs have as many as 47, 3 of which are present in 21.
About 3% of children do not inherit all of chromosome 21, but only some of the genes that are adjacent to chromosome 14. This phenomenon is called translocation.
Another three percent of children inherit the genes of chromosome 21 not in every cell, but only in selective ones. This option is referred to as a mosaic. Usually such people do not have any clear signs of a deviation, their physical and intellectual capabilities are not severely limited (iq level is low). Signs of mosaic retardation may be generally invisible to other people.
Reasons Why are babies born with Down syndrome?, are called a lot, but this genetic anomaly has not been fully studied. One factor is the age of the biological mother and father. The higher the age of potential parents, the more likely it is that a baby with genetic abnormalities and mental disorders will be born.
For a woman, the critical age is considered to be from 33 to 35 years old, when the possibility of having such a baby increases to 1:30. For a man, such a threat arises after 42 years. This is primarily associated with the aging of the woman's body and the deterioration of the quality of sperm in men.
Also, the possibility of having a baby with this problem is high in mothers with the same syndrome (about half of the cases). But in most cases, a woman has spontaneous miscarriages in the early lines of gestation. Down men simply cannot have children.
It should be noted that the risk of birth is high a sick child in families where there have already been such cases in previous generations
Age risk factor
Babies with this disease can be born to completely healthy parents. If healthy parents have already had a down child, then the possibility of having a second child of the same kind reaches one percent.
The older the woman, the more likely the birth of a sick child:
- Under the age of 25 years - 1:2000;
- 25 years - 1:1250 or 1270;
- 30 years - 1:1000;
- 35 years 1:450;
- 40 years - 1:150;
- 45 years old - 1:30 or by 50.
A greater chance of giving birth to a baby with mental retardation is inherent in carriers of a genetic translocation. If the carrier is the mother, then this probability reaches 30 percent, and if the father, then up to 5 percent.
Recent observations by scientists from India have yielded unexpected results. It turns out that not only the age of the father and mother can affect the development of such a syndrome, but also the age of the grandmother on the maternal side. The older she gave birth to a daughter, the higher the possibility that her grandchildren will be born with a pathology.
Also, the possibility of having such a child is high with closely related ties. It should be noted that the disease is not fully understood, so not all risk factors are known.
Diagnosis during pregnancy
At an early stage, this problem is very difficult to identify in a child. One of the main syndromes of this manifestation is the detection of subcutaneous fluid on ultrasound in the back (collar) region of the neck at 11-13 weeks of pregnancy. But this method is not reliable, in 20 percent of situations such a reading is false.
Indicators by which the syndrome can be recognized during ultrasound are:
- The funnel zone noticeably increases;
- The spine is split;
- The nasal bone is too weakly developed;
- The face of the baby has a flat shape;
- The little fingers are very shortened and also underdeveloped.
One ultrasound will not be enough for more accurate results. An additional examination and the delivery of serum and blood tests will help to confirm or refute the presence of such a syndrome in a child. If they turned out to be positive, then the pregnant woman is prescribed a triple test for a period of 16 to 18 weeks.
In cases where all the tests carried out and the analyzes obtained indicate the likelihood of a problem, then there is no doubt: 99 out of 100 children in this case are born with an additional 47 chromosome.
It must be remembered that the fewer tests and analyzes have been done, the less you can rely on the final results. So, a triple test, during which the doctor detects the level of estriol, hCG and serum alpha-fetoprotein, by itself can give an error in nine percent of cases.
Tests and analyzes
Tests and analyzes to determine the syndrome must be done without fail for those pregnant women who, during ultrasound, have found a thickening in the collar space.
At 16-18 weeks you need to take tests for hormones. If such a test also indicates the presence of a disease, then you need to check the amniotic fluid. This procedure is performed in a hospital and is a puncture of the abdominal cavity of a pregnant woman and the removal of amniotic fluid for analysis.
It should also be noted that after conducting this analysis, the possibility of miscarriage increases several times. To conduct or not to conduct an audit is a woman's business. If the analysis of amniotic fluid is carried out at later stages of pregnancy, then an abortion will no longer work.
Rehabilitation and training
The syndrome itself is considered incurable, in fact, as it is a genetic disease. But such babies can be born with a general weakened immune system, as well as a set of congenital diseases. That is why, in order to avoid the development of pathological processes, the child must be regularly monitored by a number of specialists, including a narrower spectrum of treatment.
Despite the fact that mental retardation is incurable, a sunny child should be given regular classes, proper care and communication, as this will help the child to socialize in society.
Teaching a child with this syndrome takes place in the form of a game and can be supplemented with animal therapy (communication with animals). Such classes can only give positive results and allow the child to develop well intellectually.
RELEVANCE: In domestic medical, pedagogical and psychological science, for many years, the position was affirmed about the hopelessness of this diagnosis for the further development of the individual. It was believed that a person with Down syndrome is not teachable, and attempts to treat this "genetic disease" were doomed to failure in advance.
Programs of psychological, pedagogical and social rehabilitation of people with Down syndrome have not been developed. It was generally accepted that neonatologists had to convince parents in the maternity hospital to abandon the child, citing the futility of any kind of assistance to such children. As a result, most children with Down syndrome, barely born, became orphans with living parents.
ESSENCE OF DOWN SYNDROME
"Down syndrome" is the most common form of chromosomal pathology known to date. About 20% of severe forms of lesions of the central nervous system are associated with genetic disorders. Among these diseases, the leading place is occupied by Down's syndrome, in which mental retardation is combined with a peculiar appearance. Down syndrome is a genetic anomaly, a congenital chromosomal disease that occurs as a result of the appearance of an extra chromosome. The cells of the human body contain 46 chromosomes, which contain traits that are inherited from the parents to the embryo. A chromosome set is the same number of paired chromosomes, male and female. In children born with Down syndrome, the 21st pair has an extra chromosome, resulting in the presence of 47 chromosomes. This is the main reason for the development of Down syndrome.
Such a violation occurs quite often - in 1 child out of 650-800 newborns. These deviations in some medical sources are called "Down's disease", but scientists think differently and the term Down syndrome means a certain set of features and signs that were described by the English physician John Down in 1866. It is the leading cause of cognitive impairment. Down syndrome is associated with mild to moderate developmental delay, people with the disease have characteristic facial features, low muscle tone in early childhood. Many people with Down syndrome have heart defects, an increased risk of developing leukemia, early onset Alzheimer's disease, gastrointestinal problems, and other health problems.
Key: The symptoms of Down syndrome range from mild to severe.
FORMS OF DOWN SYNDROME
1. Trisomy means having three chromosomes instead of two. Research analyzes have confirmed that an extra chromosome of the autosome group leads to an abnormal development of the embryo. The occurrence of Down's disease is associated with the "wear and tear" of the female body and diseases of the genital organs, with episodes in a woman's life when there was a birth of dead children or those who died at an early age.
2. Translocation Down's syndrome - the transfer of a gene or a fragment of a chromosome to another position in the same or another chromosome. The 13-15th and 21-22nd autosomes are involved in the translocation, but the number of chromosomes in the set remains equal to 46. The probability of having a sick child in this case depends on the father - the carrier of the mutation, and not on the age of the mother.
Babies with translocation syndrome make up 5% of the total number of children with Down's disease.
3. Down syndrome with mosaicism. Mosaicism - the third type of chromosomal abnormalities is expressed by the presence in some cells of the normal number of chromosomes 46, and in others - 47 chromosomes, i.e. trisomy for the 21st pair of chromosomes. The frequency of this phenomenon is 1% of the total number of children with Down syndrome. Some children have pronounced typical features of the pathology or mild ones. They are intellectually stronger than children with translocation Down syndrome. The occurrence of an abnormal set of chromosomes is associated with a violation of some phases of meiosis. At the age of 35, a woman's body undergoes a change in hormonal balance and changes in the formation of eggs in a woman's body. Which of the extra genes on chromosome 21 lead to the development of certain symptoms? There is still no exact answer to this question. Scientists believe that an increase in the number of specific genes changes the interaction between them. Some genes become more active than others, while others are less active than usual. Due to this imbalance, the differentiation and development of both the organism itself and the psycho-emotional sphere, including intellectual development, are disturbed. Currently, about 400 genes are known on chromosome 21, but the function of most of them remains unclear to this day.
INTELLIGENT CAPABILITIES
There are more differences between people with Down syndrome than similarities. They have many traits inherited from their parents and look like their siblings. However, along with these personal characteristics, they have certain physiological traits that are common to all people with Down syndrome. I will not describe the external and physical features of this syndrome, I would like to touch on a special problem that presents learning difficulties. This means that learning for such children is more difficult than for most people of the same age. Another, the most common disorder associated with Down syndrome, are cognitive impairments (disorders in communication). Cognitive development is often delayed, and all people with Down syndrome have learning difficulties throughout their lives. How an extra chromosome 21 leads to cognitive impairment is not entirely clear. The average brain size of a person with Down syndrome differs little from that of a 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, changes especially. Scientists are using human studies in animal models of Down syndrome to find out which specific genes on chromosome 21 lead to different aspects of cognitive impairment.
Down syndrome patients have a number of predispositions to such conditions as: hearing loss, frequent infections of the middle ear (otitis media), thyroid disease (hypothyroidism), cervical spinal instability, visual disturbances, 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 disorders, attention deficit hyperactivity disorder, depression, movement disorder stereotypes, and obsessive-compulsive disorders. Thinking. The profound underdevelopment of the speech of these children (pronounced damage to the articulatory apparatus, stuttering) often masks the true state of their thinking and creates the impression of lower cognitive abilities. However, when performing non-verbal tasks (classification of objects, counting operations, etc.), some children with Down syndrome may show the same results as other pupils. In the formation of the ability to reason and build evidence, children with Down syndrome experience significant difficulties. Children have a harder time transferring skills and knowledge from one situation to another. Abstract concepts in academic disciplines are inaccessible to understanding. The ability to solve practical problems that have arisen can also be difficult. Limited ideas, insufficiency of inferences underlying mental activity, make it impossible for many children with Down syndrome to teach certain school subjects.
Memory. Characterized by hypomnesia (reduced memory capacity), it takes more time to learn and master new skills, and to memorize and memorize new material. Insufficiency of auditory short-term memory and processing of information received by ear.
Attention. Instability of active attention, increased fatigue and exhaustion, Short period of concentration - children are easily distracted.
Imagination. The image does not arise in the imagination, but is perceived only visually. They are able to perceive parts of the picture, but cannot combine them into a whole image.
Behavior. It is characterized mainly by obedience, easy obedience, good nature, sometimes affectionateness, willingness to do what they are asked. Children easily come into contact. A variety of behavioral disorders may also occur.
Emotions. In children with Down syndrome, elementary emotions are preserved. Most of them are affectionate, affectionate. Some express positive emotions to all adults, come into contact with them, some - mainly to those with whom they constantly communicate. In children, positive emotions are observed more often than negative ones. When they fail, they usually don't get upset. They cannot always correctly evaluate the results of their activities, and the emotion of pleasure usually accompanies the completion of the task, which, in this case, may be performed incorrectly. Available fear, joy, sadness. Usually emotional reactions do not correspond in depth to the reason that caused them. More often they are not expressed clearly enough, although there are also too strong feelings on a minor occasion.
Personality. In personal terms, these children are more likely to be suggestible, imitate the actions and deeds of other people. Some of these children have epileptoid character traits: egocentrism, excessive accuracy. However, most children have positive personal qualities: they are affectionate, friendly, balanced.
MISTAKE CONCEPTS:
1.MOTOR DEVELOPMENT
Comparing the stages of psycho-motor development of children with Down syndrome, taken from the results of modern work on the study of the motor development of young children with Down syndrome, presented in the table, it is easy to see that "downers" practically come "on the heels" in the development of normal babies.
Stages in child development
| Children with Down syndrome | "Normal" children | |||
| Average age (months) | Range (months) | Average age (months) | Range (months) | |
| smiling | 2 | 1,5-3 | 1 | 0,5-3 |
| rolls over | 6 | 2-12 | 5 | 2-10 |
| Is sitting | 9 | 6-18 | 7 | 5-9 |
| creeps | 11 | 7-21 | 8 | 6-11 |
| Walks on all fours | 13 | 8-25 | 10 | 7-13 |
| Costs | 10 | 10-32 | 11 | 8-16 |
| walks | 20 | 12-45 | 13 | 8-18 |
| speaks the words | 14 | 9-30 | 10 | 6-14 |
| Says sentences | 24 | 18-46 | 21 | 14-32 |
2. MENTAL PECULIARITIES
The intellectual capabilities of a child with Down syndrome, as well as his capabilities in other areas of development, have been underestimated in the past. Recent scientific work refutes many previous conclusions, including the assertion that children with Down syndrome usually have severe or profound mental retardation. In accordance with the data of modern research, the degree of retardation of most children with Down syndrome is in the range from mild to moderate. The intellectual activity of some children can be called borderline or between low and medium, and only a very few children have severe intellectual retardation. From this it follows that in children with Down syndrome mental abilities can fluctuate over a wide range.
3. Another misconception is related to the processes that occur in adulthood. It was believed that with age, the mental abilities of people with Down syndrome gradually decline. However, observations of scientists for several years over a group of people with Down syndrome did not reveal the presence of this phenomenon. Based on the latest information, we can conclude that now the future of children with Down syndrome can certainly be looked at more optimistically than ever before.
FACTORS THAT DIFFICULT LEARNING
Vision problems. Although children with Down syndrome usually have good visual learning abilities and can use them to complete the curriculum, many have some form of visual impairment - 60-70%. Children under the age of 7 must wear glasses.
Hearing problems. Many children with Down syndrome experience some degree of hearing loss, especially in the early years of life. Up to 20% of children may have sensorineural hearing loss caused by developmental defects in the ear and auditory nerve. The level of auditory perception can change during the day.
Problems with the development of speech. Children with Down syndrome have speech development deficiencies (both in the pronunciation of sounds and in the correctness of grammatical structures). Speech delay is caused by a combination of factors, some of which are due to problems in speech comprehension and in the development of cognitive skills. Any delay in the perception and use of speech can lead to a delay in intellectual development. In addition, the combination of a smaller oral cavity and weaker mouth and tongue musculature makes it physically difficult to pronounce words. The longer the sentence, the more problems with articulation. This leads to what the child gets: less speech experience that would allow him to learn new words of sentence structure, less practice that would make his speech more understandable.
MODERN APPROACHES TO EDUCATION AND REHABILITATION OF CHILDREN WITH DOWN SYNDROME
Since the Englishman L. Down first described the syndrome in 1866, there have been attempts to treat children with this syndrome through many different procedures. Some of the proposed methods of treatment were aimed at eliminating lesions of individual organs (congenital heart disease, skeletal pathologies, disorders in the gastrointestinal system, dysfunction of the thyroid gland and sensory organs). Other treatments, as well as preventive measures, have been aimed at improving the overall health of children with Down syndrome. In addition, experts have made attempts to increase the level of mental activity of the child with the help of various methods of drugs and the use of various procedures. In the last ten years, both in the press and in the medical literature, the problem of plastic surgery for people with Down syndrome has been discussed. In particular, in Germany, Israel, Australia, and occasionally in Canada and the United States, attempts were made to correct the facial features of these people with the help of such operations. To date, the "main treatment" for children with Down syndrome is pedagogical assistance.
One of the first programs of "early intervention" in the development of children with complex defects is the program of early education for children with Down syndrome, developed by L. Rhodes with a group of colleagues at Sonoma State Hospital (USA) and demonstrating the effectiveness of pedagogical intervention in deficient development. The program of early educational assistance for children with developmental disabilities "Little Steps", developed at Macquarie University (Sydney, Australia, 1975), tested in the educational center of this university for children with Down syndrome and other developmental disorders. This program encourages children to interact more fully with the world around them. Such specialists are involved in the “treatment” as: oligophrenopedagogues, speech therapists, educators, specialists in physical therapy, music workers, and physical education teachers.
OUR PRACTICE
Taking into account the peculiarities of the motor development of children with Down syndrome at an early age, the blurring of the boundaries of the intellectual corridor, the high plasticity of the central nervous system and the ability to compensate for impaired functions, led to the use of autoneurite therapy in combination with micropolarization in order to improve cognitive functions. In our center over the past 3 years, more than 30 children with Down syndrome aged 3 to 6 years have been treated according to this scheme, since it is during this period that primary impaired mental and motor functions can be corrected and secondary developmental abnormalities can be prevented. And also this period is favorable for the formation of the correct social model of behavior.
This scheme has shown high therapeutic efficacy on:
Lag in motor development - in the development of fine and general motor skills;
Weak short-term auditory memory;
Increase in the period of concentration;
Difficulties in mastering and memorizing new concepts and skills;
Difficulties with the ability to generalize, reason and prove;
Difficulties in establishing a sequence (actions, phenomena, objects, etc.);
Acceleration of speech development (increase in vocabulary, leading to broader knowledge; improvement in mastering grammatical structures; ability to communicate, understand tasks, learn new words and grammatical rules more quickly).
CONCLUSION
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 live to an average age of 55 or longer.
No one knows when a child with Down syndrome will stop in their development. You have the opportunity to help your child maximize their potential and become a full-fledged member of society, like their healthy peers, lead an active lifestyle: study and work.
Because persons with Down syndrome who have graduated from a special (correctional) school can continue their education in secondary specialized and higher educational institutions. This right is enshrined in the relevant instructions of the Ministry of Social Security of the RSFSR dated November 3, 1989 No. 1 - 141 - U and dated September 5, 1989 No. 1 - 1316 - 17 / 16 / 18.
Down syndrome is one of the most mysterious diseases today. There are many myths and legends about him. A lot of contradictory facts make the parents of such babies very nervous. And during pregnancy, they are constantly tormented by the question of whether to have an abortion or give birth to a child. If you leave a child, then how to educate and accustom him in a world that is not prepared for life with unusual children? These and many other questions daily interest parents.
It is necessary to understand this issue as fully as possible so that all fears disappear, and the problem begins to be seen from a completely different angle. To do this, you should understand the issue and determine whether you are ready for the trials that life has prepared for you and your unborn baby.
Features of the disease
This is a pathology related to deviations at the gene level., which doctors characterize as underdevelopment of the 21st chromosome. This involuntarily raises the question, how many chromosomes do people with Down syndrome have? They have not 46 chromosomes in the chain, but 47, because the 21st chromosome has not two copies, but three. It is this deviation from the norm that leads to the development of such a serious illness in a child.
In medicine, it is customary to talk about such people that they have "Down's disease", but geneticists categorically disagree with this interpretation. They suggest using only the name "Down's syndrome", which refers to the characteristic features and signs that are present in people with this disease.
According to statistics, the disease is not considered very rare. Out of 700 children born, one suffers from the disease. Moreover, the later a woman becomes pregnant, the higher the likelihood that the child will be born special.
Babies with this syndrome are called solar. This is due to the fact that throughout their lives they are distinguished by kindness, tenderness and affection. These kids are always smiling. They have neither envy, nor anger, nor enmity towards others. However, in the world they live very hard, because it is difficult for them to adapt to the world around them. And the lag in development is very noticeable. But what influences the birth of unusual sunny children?
Reasons for the development of the disease
Currently, doctors continue to work on the problem of why children are born with Down syndrome, and what factors are decisive in the violation of the karyotype. Moreover, genetics, despite the level of modern progress, remains a little-studied science. Therefore, it is not possible to obtain an exact answer to this question. Recent studies have shown that There are a number of reasons that indirectly affect the development of abnormalities and the appearance of the syndrome:
The only thing that doctors and geneticists agree on is that the lifestyle of parents and environmental factors do not affect the development of the disease. Therefore, accusations from spouses against each other at the birth of such a baby will be completely unfounded.
Main symptoms
The clinical picture of the disease is pronounced, and therefore, already by external symptoms, it is possible to determine the presence of a syndrome in a child immediately after birth. These include:
- flattened nose and face;
- slanted and raised eyes;
- single crease on the palm;
- shortened fifth finger and turned inward;
- a far removed big toe and strongly developed folds.
Modern medicine allows you to determine the child's Down syndrome, the signs of which are already known, during pregnancy. This gives parents the opportunity to decide the fate of the fetus.
Every woman is tested during pregnancy and has an ultrasound scan. Therefore, it is impossible to ignore the presence of signs indicating a disease. You can determine the pathology both in the first and second trimester, but to confirm the data, you need to pass additional tests and conduct genetic tests, which will support the ultrasound results.
The signs by which the doctor determines the presence of pathology are as follows:
But it should be remembered that all these signs do not give confidence that the fetus has a chromosomal defect. They must be confirmed by genetic tests and tests. If the parents, after the diagnosis of the fetus, decide to leave the child, after birth, all signs of the syndrome will be visible to the naked eye.
Signs of pathology after the birth of a baby
Although the signs of pathology are known not only to physicians, they can still indicate the presence of other abnormalities. Therefore, after the birth of the baby, the diagnosis must be confirmed by additional studies, which include a genetic analysis for the karyotype. From normal kids A baby with Down syndrome most often has the following symptoms:
But it is not at all necessary that a baby with a pathology will have all these signs at once. Each child is individual, and therefore each will have its own set of features. But the older the child becomes, the more symptoms of the disease will join. So, by the age of eight, a child most often develops cataracts, obesity, anomalies in the development of teeth, mental retardation and a delay in speech development.
All these deviations occur against the background of the formation of that very extra chromosome in the DNA chain. The result of this is a very slow development of the child and difficult social adaptation. Down syndrome in medicine refers to one of the varieties of oligophrenia, and therefore it has several degrees of development.
The degree of development of the disease
They differ in the degree of mental retardation of the child. There are deep, severe, moderate and mild degrees of the disease. If a child is diagnosed mild degree of the syndrome, he will differ little from his peers, and at first glance it will be almost impossible to determine the presence of the disease. Such a kid achieves excellent results in learning and life.
But with a severe and deep degree of illness The child will never be able to lead a normal life. Such a burden is very heavy, but not so much for the baby as for his parents. Therefore, it is worth knowing in advance the exact diagnosis and determining whether you can raise such an amazing child.
Diagnostic methods
Down syndrome, the causes of which are still not exactly established, can manifest itself in everyone's family. Nobody is immune from this. And therefore should know the basic diagnostic methods so as not to get a surprise in the form of a pathology at the birth of a baby.
An important role in the detection of pathology is played by the examination of a pregnant woman using modern diagnostic and screening methods. To begin with, an ultrasound is determined by a number of signs indicating the presence of abnormalities. They are scientifically called markers. But it should be remembered that none of the markers is the true and only symptom of pathology. Additional studies are needed to confirm the diagnosis.
Families who are at high risk of having an unusual child are advised to genetic test. One of these tests is an invasive study. But it is not recommended for women over 34 years old. This is due to the fact that during the study, special instruments are introduced into the uterine cavity, which can damage its walls and even harm the mother and fetus. The basis of this study is the collection of amniotic fluid for the study of amniotic fluid. A chorion biopsy is also done, which allows you to determine the presence of a chromosomal pathology. And the last study is to take the umbilical cord blood of the child.
In addition, there are non-invasive research methods, which include the perinatal screening program, which consists in donating blood from a vein, and perinatal diagnostics using special devices.
Therefore, the presence of pathology can be determined even in the first or second trimester of pregnancy. Therefore, the decision can be made in the early stages. Because after the 20th week it is too late to do this, because the fetus is already starting to move.
Currently, more than 92% of women have terminated their pregnancy due to the detection of a pathology. Such statistics indicate that not many people decide to live with such a child. After all, the pathology is not subject to treatment and remains for life.
It is worth noting that disease is not treatable. All activities are aimed only at facilitating the condition and socialization of the child. Today, many programs have been created that make it possible to significantly facilitate the life of a sunny child. They are aimed at developing in the baby:
To instill in a child all these skills, a huge staff of doctors of various specializations is required. To ensure the normal functioning of the brain, children are periodically prescribed drugs such as "Piracetam", "Aminolone" and B vitamins. It is extremely rare that such methods of treatment give their results, but most often the forecasts are predictable and not very bright.
Forecasts for life
According to practice, Children with Down syndrome may develop differently. Everything will depend entirely on how much they are dealt with and paid attention to. Such babies are trainable, although this process is much more difficult for them than for their peers.
According to doctors' predictions, most children will learn to walk, talk, write and read. Only this process will last much longer for them than for other children. And problems with speech will remain for life.
It is worth noting that children with a pathology may well study in a regular school. There are precedents when solar children graduated from universities and institutes. In addition, such people may well start a family and half of the marriages will have children. But it is worth noting that the child is 100% born with a deviation.
The manifestations of the syndrome in later life are always unpredictable. Therefore, one should be guided by the forecasts of doctors and prepare oneself for the unpredictability of the development of the child.
Preventive measures
There are no reliable, proven and guaranteed methods for the prevention of Down syndrome today. But doctors recommend playing it safe and doing it on time genetic testing before conception to determine if there is a possibility of deviations in the offspring.
It should be remembered that the parents are not to blame for the birth of a baby with Down syndrome. It's just a mistake in the human genome. It is she who brings into this world sunny, smiling children who adorn our lives. By virtue of their innate features, they remain kind, naive and immaculate for the rest of their lives. But it is precisely this purity that the world so lacks. Maybe they should be born, and this is not a disease, but a blessing?