Down syndrome: external signs and symptoms

WHAT IS DOWN SYNDROME

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

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

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

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

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

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

MOSAICISM - GENERAL CHARACTERISTICS

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

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

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

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

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

CAUSES AND CONTRIBUTING FACTORS

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

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

Such pathological changes are provoked by a number of factors:

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

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

EXTERNAL SIGNS OF MOSAIC SYNDROME

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

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

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

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

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

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

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

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

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

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

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

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

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

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Down syndrome is the most common genetic abnormality. According to statistics, every 700th-800th child on the planet is born with Down syndrome. This ratio is the same in different countries, climate zones, and social strata. It does not depend on the parents’ lifestyle, their health, the presence or absence of bad habits, skin color, or nationality. About 2,200 children with Down syndrome are born in our country every year. Boys and girls with Down syndrome are born at the same frequency; their parents have a normal set of chromosomes. It is not and cannot be anyone’s fault that a child has an extra chromosome. Down syndrome is not a disease, but a genetic condition and cannot be cured. But children and adults with Down syndrome can be helped.

Currently, there is no doubt that people with Down syndrome are teachable: they can learn to walk independently, eat, dress, communicate with others and speak, play, study and make friends with their peers, play sports and be creative. Like any of us, a person with Down syndrome has his own strengths and weaknesses, habits and preferences, hobbies and interests.

There is no doubt that children and adults with Down syndrome realize their potential much better if they live at home, in an atmosphere of love, when they have the opportunity to receive psychological and pedagogical support from birth. An equally important factor at each age stage for people with Down syndrome is quality medical support.

The word "syndrome" implies the presence of certain signs or characteristic features. Down syndrome was first described in 1866 by British physician John Langdon Down. Almost a hundred years later, in 1959, the French scientist Jerome Lejeune substantiated the genetic origin of this syndrome, which is determined by the presence of an additional chromosome in human cells. In the process of the birth of a new human life, after the fusion of male and female reproductive cells, one cell is formed. The number of chromosomes of a new fertilized egg doubles and reaches 46. 23 of them belong to the maternal cell and 23 to the paternal cell. People with Down syndrome have an extra chromosome on pair 21. It appears as a result of a genetic accident and as a result, cells have not 46, but 47 chromosomes.

The presence of this genetic anomaly is the reason for the appearance of a number of features, as a result of which a child with Down syndrome will not develop quite the same way as the vast majority of children of his age, but he will go through the same stages of development and learn a lot!

PSYCHOMOTOR AND MENTAL DEVELOPMENT

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

About the incidence of Down syndrome

The change in the age structure of women in labor did not lead, as expected, to a decrease in the birth of children with age-dependent pathologies and, in particular, with Down syndrome. This circumstance confirms the stronger influence of environmental factors on the frequency of births of children with Down syndrome. The proportion of women giving birth aged 35 years and older remains within 5% of the total for a long time. The use of this indicator allows health authorities to calculate the necessary costs for organizing invasive prenatal diagnostics in order to identify chromosomal aberrations in the fetus.

Recently, monitoring of congenital malformations has been used to comprehensively assess the impact of environmental factors on humans. In ongoing research, it is necessary to take into account the demographic processes occurring in the populations being studied.

Over the past decade, the birth rate in the country has decreased by almost 2 times. A change in this indicator may be associated with a change in the age of women in labor, which in turn can lead to a change in the frequency of age-dependent pathologies (for example, Down syndrome). In addition, it is known that with an increase in the number of births, the frequency of births of children with Down syndrome increases.

Based on this, we set the task of analyzing the birth rate in connection with the age of women giving birth in the Kaluga region for the period from 1986 to 1995; during the same time in the presented region, using correlation analysis, assess the estimated and population frequencies of Down syndrome.

Clinical observations and methods

According to the Kaluga Committee of State Statistics, the number of newborns over 10 years in the Kaluga region (Obninsk excluded) was 108,560.

During the same period, information about 70,925 women in labor was collected using the registers for the reception of pregnant women, women in labor and postpartum - form 002/u; this sample was random. Data on the population frequency of Down syndrome were obtained in the medical genetics office of the Kaluga Regional Hospital. This information, distributed by year, is presented in more detail in Table. 1.

When identifying families with Down syndrome, medical genetic counseling with cytogenetic examination was carried out in 80% of cases. To calculate the estimated frequencies, we used data on the risk of having a child with Down syndrome for women of different age groups, published by G.I. Lazyuk [5].

Correlation analyzes between estimated and population frequencies of Down syndrome were performed using Microsoft Excel spreadsheets.

Research results and discussion

Due to the fact that the data on samples of women giving birth by age do not completely correspond to the birth rate, they are presented in percentage terms (Table 2).

There was an increase in the proportion of women giving birth under the age of 19 years from 9% in 1986 to 19% in 1995, as well as at the age of 20-24 years from 39% in 1986 to 43% in 1995. At the same time During the same period, the number of women giving birth at the age of 25-29 years decreased from 31 to 22% and at the age of 30-34 years from 15 to 11%. For the remaining groups presented, fluctuations in the age of women remained insignificant and amounted to an average of 5% of the total number. Based on this figure, it is possible to determine the means necessary to organize invasive prenatal diagnostics in women over 35 years of age in order to identify chromosomal abnormalities in the fetus. Thus, we can conclude that among women giving birth, the proportion of first-time mothers has increased, and the percentage of women having second and subsequent births has decreased, which led to a decrease in the birth rate in the study area by almost 2 times. In addition, these data suggest an expected decrease in the frequency of births of children with age-dependent pathologies and, in particular, with Down syndrome.

To find out to what extent demographic changes could influence the birth rate of children with Down syndrome, we calculated the expected rates using the formula: empirical risk for women of different age groups multiplied by the proportion of each age group.

The resulting calculated frequencies and the actual registered frequencies of Down syndrome are presented in Table. 3.

It can be noted that changes in the population frequency of Down syndrome over time are periodic, which is most likely due to the multifactorial nature of the causes of its occurrence. The presented data demonstrates a significant difference in the amplitude of oscillations between the expected frequency and the actual one. The correlation coefficient (r) of -0.0754 indicates a weak relationship between the population frequencies of Down syndrome and those expected based on the age of women.

conclusions

• Changes in demographic indicators over the past 10 years have not significantly affected the incidence of Down syndrome, which allows us to think about a more significant influence of environmental factors on the appearance of this pathology.
• The proportion of women giving birth aged 35 years and older for a long time remains within 5% of their total number. The use of this indicator allows health authorities to calculate the necessary costs for organizing invasive prenatal diagnostics in order to identify chromosomal aberrations in the fetus.

HOW TO DIAGNOSE THE DISEASE

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

The disease can be detected using several methods:

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

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

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

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

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

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

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

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

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

Amniocentesis in the second trimester

But again something went wrong. It turns out that the nose still has a deviation from the norm and was referred to a geneticist.

“Rita, according to your tests: you have a risk of a genetic disorder. We recommend that you undergo amniotic fluid sampling - amniocentesis. This is a reliable analysis that will determine the exact number of chromosomes your baby has. We have had many cases where all the screenings were perfect, and as a result, babies were born with the syndrome. Do amniocentesis and you will have peace of mind that you are carrying a healthy baby. I’ll give you a week to make a decision.”

Again she came out as if she had been lost in the water, what if she really is a child with disabilities? Am I ready for such a child? The risk of miscarriage after amniocentesis is about 2%. Within a day, my husband and I made a decision: we would not be able to live in ignorance until the birth.

The procedure was scheduled for the next day. They gave me valerian tablets to calm me down and told me to sit and calm down for 10 minutes before the puncture. They put him on the couch, connected the ultrasound diagnostic machine and used a large syringe to look for the place where the needle would be inserted so as not to hurt the baby. I didn’t feel the puncture, but the child began to ache in his stomach. The whole procedure took no more than 5 minutes.

To prevent the deterioration of both of them, I was under the supervision of doctors for half an hour. I didn’t feel any pain during the day, but the tone of the uterus was long lasting. For a couple of days I was recommended to drink valerian and no stress to avoid miscarriage.

HELP YOUR CHILD

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

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

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

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

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

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

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

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

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

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

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

Other methods of therapy include:

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

Forecast and prevention of Down syndrome

The learning and socialization capabilities of persons with Down syndrome are different; they largely depend on the intellectual abilities of children and on the efforts made by parents and teachers. In most cases, children manage to acquire the minimum household and communication skills necessary in everyday life. At the same time, there are known cases of success of such patients in the field of fine arts, acting, sports, as well as higher education. Adults with Down syndrome can lead an independent life, master simple professions, and start families. Prevention of Down syndrome can only be discussed from the perspective of reducing possible risks, since the likelihood of having a sick child exists in any couple. Obstetricians and gynecologists advise women not to delay pregnancy until later in life. Genetic counseling of families and a prenatal screening system are intended to help predict the birth of a child with Down syndrome.

PSYCHOMOTOR DEVELOPMENT

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

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

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

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

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

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

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

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

You can develop brushes using various techniques:

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

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

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

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

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