Pediatric medical history of Down and VPS. Case history - Pediatrics (congenital heart disease). Human chromosomal diseases
– a chromosomal abnormality in which the karyotype contains additional copies of genetic material on chromosome 21, i.e. trisomy on chromosome 21 is observed. Phenotypic signs of Down syndrome are represented by brachycephaly, flat face and occiput, Mongoloid incision of the palpebral fissures, epicanthus, skin fold on the neck, shortening of the limbs, short fingers, transverse palmar fold, etc. Down syndrome in a child can be detected prenatally (according to ultrasound, chorionic villus biopsy, amniocentesis, cordocentesis) or after birth based on external signs and genetic research. Children with Down syndrome require correction of concomitant developmental disorders.
ICD-10
Q90
General information
Down syndrome is an autosomal syndrome in which the karyotype is represented by 47 chromosomes due to an additional copy of chromosome 21. Down syndrome is registered with a frequency of 1 case per 500-800 newborns. The sex ratio of children with Down syndrome is 1:1. Down syndrome was first described by the English pediatrician L. Down in 1866, but the chromosomal nature and essence of the pathology (trisomy 21) was revealed almost a century later. The clinical symptoms of Down syndrome are varied: from congenital malformations and mental development disorders to secondary immunodeficiency. Children with Down syndrome require additional medical care from various specialists, and therefore they constitute a special category in pediatrics.
Causes of Down syndrome
Normally, the cells of the human body contain 23 pairs of chromosomes (normal female karyotype 46,XX; male - 46,XY). In this case, one of the chromosomes of each pair is inherited from the mother, and the other from the father. The genetic mechanisms for the development of Down syndrome lie in a quantitative disruption of autosomes, when additional genetic material is added to the 21st pair of chromosomes. The presence of trisomy on chromosome 21 determines the features characteristic of Down syndrome.
The appearance of an additional chromosome can be caused by a genetic accident (non-disjunction of paired chromosomes during oogenesis or spermatogenesis), a violation of cell division after fertilization, or the inheritance of a genetic mutation from the mother or father. Taking these mechanisms into account, genetics distinguishes three types of karyotype abnormalities in Down syndrome: regular (simple) trisomy, mosaicism and unbalanced translocation.
Most cases of Down syndrome (about 94%) are associated with simple trisomy (karyotype 47,XX, 21+ or 47,XY, 21+). In this case, three copies of the 21st chromosome are present in all cells due to disruption of the separation of paired chromosomes during meiosis in the maternal or paternal germ cells.
About 1-2% of cases of Down syndrome occur in the mosaic form, which is caused by impaired mitosis in only one cell of the embryo, which is at the blastula or gastrula stage. In mosaicism, trisomy of the 21st chromosome is detected only in derivatives of this cell, and the rest of the cells have a normal chromosome set.
The translocation form of Down syndrome occurs in 4-5% of patients. In this case, the 21st chromosome or its fragment is attached (translocated) to one of the autosomes and, during meiosis, moves along with it into the newly formed cell. The most common “objects” of translocation are chromosomes 14 and 15, less often - on 13, 22, 4 and 5. Such rearrangement of chromosomes can be random or inherited from one of the parents who is a carrier of a balanced translocation and has a normal phenotype. If the carrier of the translocation is the father, then the probability of having a child with Down syndrome is 3%; if the carriage is associated with maternal genetic material, the risk increases to 10-15%.
Risk factors for having children with Down syndrome
The birth of a child with Down syndrome is not related to the lifestyle, ethnicity or region of residence of the parents. The only reliably established factor that increases the risk of having a child with Down syndrome is the age of the mother. So, if in women under 25 years of age the probability of having a sick child is 1:1400, by the age of 35 it is already 1:400, by the age of 40 it is 1:100; and by 45 - 1:35. First of all, this is due to decreased control over the process of cell division and an increased risk of chromosome nondisjunction. However, since the birth rate in young women is generally higher, statistics show that 80% of children with Down syndrome are born to mothers under the age of 35. According to some reports, the father's age over 42-45 years also increases the risk of developing Down syndrome in the child.
It is known that if one of the identical twins has Down syndrome, the other will have this pathology in 100% of cases. Meanwhile, for fraternal twins, as well as brothers and sisters, the likelihood of such a coincidence is negligible. Other risk factors include the presence of persons with Down syndrome in the family, maternal age under 18 years, carriage of the translocation by one of the spouses, consanguineous marriages, random events that disrupt the normal development of germ cells or the embryo.
Thanks to preimplantation diagnostics, conception using ART (including in vitro fertilization) significantly reduces the risk of having a child with Down syndrome in parents at risk, but does not completely exclude this possibility.
Down syndrome symptoms
Carrying a fetus with Down syndrome is associated with an increased risk of miscarriage: spontaneous abortion occurs in approximately 30% of women at 6-8 weeks. In other cases, children with Down syndrome, as a rule, are born full-term, but have moderate hypoplasia (body weight is 8-10% below average). Despite the various cytogenetic variants of the chromosomal abnormality, most children with Down syndrome have typical external signs that suggest the presence of pathology already at the first examination of the newborn by a neonatologist. Children with Down syndrome may exhibit some or all of the physical characteristics described below.
80-90% of children with Down syndrome have craniofacial dysmorphia: flattened face and bridge of the nose, brachycephaly, short wide neck, flat back of the head, deformation of the ears; newborns - a characteristic skin fold on the neck. The face is distinguished by a Mongoloid shape of the eyes, the presence of an epicanthus (a vertical fold of skin covering the inner corner of the eye), microgenia, a half-open mouth often with thick lips and a large protruding tongue (macroglossia). Muscle tone in children with Down syndrome is usually low; there is hypermobility of the joints (including atlanto-axial instability), deformation of the chest (keeled or funnel-shaped).
Characteristic physical signs of Down syndrome are meek limbs, brachydactyly (brachymesophalangy), curvature of the little finger (clinodactyly), a transverse (“monkey”) fold in the palm, a wide distance between the 1st and 2nd toes (sandal cleft), etc. When examining children with the syndrome Down's reveals white spots along the edge of the iris (Brushfield spots), gothic (arched palate), malocclusion, and grooved tongue.
With the translocation variant of Down syndrome, external signs appear more clearly than with simple trisomy. The severity of the phenotype in mosaicism is determined by the proportion of trisomic cells in the karyotype.
Children with Down syndrome are more likely than others in the population to have congenital heart disease (patent ductus arteriosus, VSD, ASD, tetralogy of Fallot, etc.), strabismus, cataracts, glaucoma, hearing loss, epilepsy, leukemia, gastrointestinal defects (esophageal atresia, stenosis and duodenal atresia, Hirschsprung's disease), congenital hip dislocation. Typical dermatological problems of puberty are dry skin, eczema, acne, and folliculitis.
Children with Down syndrome are often ill; they suffer more severely from childhood infections and more often suffer from pneumonia, otitis media, ARVI, adenoids, and tonsillitis. Weak immunity and congenital defects are the most likely cause of death in children in the first 5 years of life.
Most patients with Down syndrome have intellectual development disorders - usually mild or moderate mental retardation. The motor development of children with Down syndrome lags behind their peers; There is a systemic underdevelopment of speech.
Patients with Down syndrome are prone to developing obesity, constipation, hypothyroidism, alopecia areata, testicular cancer, early-onset Alzheimer's disease, etc. Men with Down syndrome are typically infertile; Women's fertility is markedly reduced due to anovulatory cycles. The height of adult patients is usually 20 cm below average. Life expectancy is about 50-60 years.
Diagnosis of Down syndrome
For prenatal detection of Down syndrome in the fetus, a prenatal diagnostic system has been proposed. First trimester screening is carried out at 11-13 weeks of pregnancy and includes identifying specific ultrasound signs of anomaly and determining the level of biochemical markers (hCG, PAPP-A) in the blood of the pregnant woman. Between 15 and 22 weeks of pregnancy, second trimester screening is performed: obstetric ultrasound, maternal blood test for alpha-fetoprotein, hCG and estriol. Taking into account the woman’s age, the risk of having a child with Down syndrome is calculated (accuracy - 56-70%; false positive results - 5%).
Pregnant women at risk of having a child with Down syndrome are offered prenatal invasive diagnostics: chorionic villus biopsy, amniocentesis or cordocentesis with fetal karyotyping and consultation with a medical geneticist. Upon receipt of information that the child has Down syndrome, the decision on whether to prolong or terminate the pregnancy remains with the parents.
In the first days of life, newborns with Down syndrome need to be seen by a cardiologist, a speech therapist and an oligophrenopedagogist.
Children with Down syndrome are usually educated in a special correctional school, but within the framework of integrated education, such children can also attend a regular public school. In all cases, children with Down syndrome are classified as children with special educational needs, and therefore require additional help from teachers and social educators, the use of special educational programs, and the creation of a favorable and safe environment. Psychological and pedagogical support for families raising “sunny children” plays an important role.
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 with Down syndrome 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 designed to help predict the birth of a child with Down syndrome.
on the topic: Down syndrome
What is Down syndrome?
The word "syndrome" refers to many signs or characteristics. The name "Down" comes from the name of the physician John Langdon Down, who first described the syndrome in 1866. In 1959, French professor Lejeune proved that Down syndrome is associated with genetic changes. Our body is made up of millions of cells, and each cell contains a certain number of chromosomes. Chromosomes are tiny particles in cells that carry precisely encoded information about all the traits we inherit. Typically, each cell contains 46 chromosomes, half of which we get from our mother and half from our father. A person with Down syndrome has a third additional chromosome on the 21st pair of chromosomes, making a total of 47 chromosomes. Down syndrome is observed in one in 600-1000 newborns. The reason why this happens is still not clear. Children with Down syndrome are born to parents from all social classes and ethnic groups, with very different levels of education. The likelihood of having such a child increases with the age of the mother, especially after 35 years, however, the majority of children with this pathology are still born to mothers who have not reached this age. Down syndrome cannot be prevented and cannot be cured. But thanks to recent genetic research, much more is now known about the functioning of chromosomes, especially the 21st. The achievements of scientists allow us to better understand the typical features of this syndrome, and in the future they may make it possible to improve medical care and socio-pedagogical methods of supporting such people.
How is Down syndrome recognized?
Down syndrome is usually suspected soon after the baby is born as the doctor, nurse, or parent recognizes the characteristic features. And then chromosomal tests are required to confirm the diagnosis. The corners of the baby's eyes are slightly raised, the face looks somewhat flat, the oral cavity is slightly smaller than usual, and the tongue is slightly larger. Therefore, the baby may stick out his tongue - a habit that you can gradually get rid of. The palms are wide, with short fingers and the little finger slightly curved inward. There can be only one transverse fold in the palm. There is mild muscle flaccidity (hypotonia), which goes away as the child gets older. The length and weight of the newborn is less than usual. How does an extra chromosome manifest itself? An extra chromosome affects health and the development of thinking. Some people with Down syndrome may have serious disabilities, while others may have minor ones. Some diseases are more common in people with Down syndrome, for example: congenital heart defects, some of which are serious and require surgery; hearing impairments and, even more often, vision impairments are common, thyroid diseases often occur, and mild illnesses such as colds and dry skin are more common.
People with Down syndrome typically have varying degrees of intellectual impairment. The development of children with Down syndrome varies greatly. Just like ordinary people, when they become adults, they can continue to study if given the opportunity. However, it is important to note that, like every ordinary person, each such child or adult must be treated individually. Just as it is impossible to predict the development of any infant in advance, there is no way to predict in advance the development of an infant with Down syndrome.
You learn that your baby has a developmental disorder
All the parents who experienced this moment said that they experienced terrible shock and reluctance to believe in the diagnosis - as if the end of the world had come. At this point, parents usually become terribly afraid and it seems that they want to escape from this situation. Some parents try not to face the truth, hoping that there was a mistake, that the chromosome analysis was carried out incorrectly, and at the same time they may feel ashamed of such thoughts. This is a natural reaction. It reflects the desire common to all people to hide from a situation that seems hopeless. Many parents are afraid that the birth of a child with Down syndrome will somehow affect their social status, and they will fall in the eyes of others - like the people who gave birth to a child with mental disabilities.
It takes more than one month to return to your normal state, begin your daily activities, and establish familiar connections. Perhaps the sadness and sense of loss will never completely disappear, and yet many families who have faced this problem testify to the beneficial effects of such an experience. They felt that life had acquired a new, deeper meaning and began to better understand what was truly important in life. Sometimes such a crushing blow gives strength and unites the family. This attitude to the situation will have the most favorable effect on the child.
Meeting the baby
Some parents admit their reluctance to get close to their newborn. However, at some point, parents overcome their doubts and fears, begin to examine their baby, touch him, take him in their arms, take care of him, then they feel that their baby is first and foremost a baby and is much more like than not like other kids. By coming into contact with the child, mom and dad have a better sense of his “normality.” Parents usually strive to quickly get to know the individual characteristics of the newborn. Each family needs a different amount of time to feel comfortable with their child. Feelings of sadness may reappear, especially when one of the parents is unwell or some circumstances remind them that their child with Down syndrome cannot do what his normal peers can do.
How to tell others
Having learned that their baby has Down syndrome, parents often cannot immediately decide whether to tell their family and friends about it. In any case, relatives, friends, and acquaintances will see that the child looks a little unusual and will notice the stiffness and sadness of the parents. They will start talking about the new baby, and this can cause awkwardness or even strain the relationship. The conversation, although painful, can be an important step in returning parents to their former self-confidence and peace of mind.
In turn, friends and family also do not always know how to react to such sad news. They are afraid to offer help so that it is not regarded as interference in other people's affairs or idle curiosity; they are waiting for some sign that their presence is desirable and that help can be useful. It happens that relationships collapse if parents wait and do not receive evidence of the previous disposition of those close to them. The most reasonable thing in such a situation is to get down to business that usually follows the birth of a child - normal, generally accepted signs of attention will help parents feel better.
During this period, grandparents may require separate assistance. Their attention is focused on adult children - the baby's parents, and they agonize over how to protect them from stress.
Conversation with the newborn's siblings
If the youngest child in the family is born with Down syndrome, parents face another difficulty: what to tell their older children. There is a natural desire to protect them from the grief of adults. Parents often overestimate their children's sensitivity to the experiences of adults and their ability to notice anything unusual in the appearance and development of the newborn. However, experience shows that it is important to talk to them as early as possible. Rights and opportunitiesPeople with Down syndrome have the same rights and should have the same opportunities to develop their potential as all other people. Receiving pedagogical assistance and the necessary social support from birth, they can develop successfully, live a full life, be worthy citizens and useful members of society.
How can I help my baby?
Parents of children with Down syndrome, just like all mothers and fathers, are concerned about the future of their children. What do they want for their children? Be able to fully communicate both with ordinary people and with people whose capabilities are limited. Have real friends among both.
Be able to work among ordinary people
Be a welcome visitor to places where other members of the community frequent and participate in common activities while feeling comfortable and confident. Live in a house that matches your desires and material capabilities.
In order to learn how to interact with ordinary people as they should, a child with Down syndrome must attend a regular public school. Integration into a regular school will give him the opportunity to learn to live and act as is accepted in the world around him. Integration may vary. The student can spend the entire school day in a regular school setting, while he is provided with the necessary assistance: special teaching aids are provided, additional staff works with him, and a special (individual) curriculum is drawn up for him. Or, although the child's primary learning environment will be the regular classroom, the student may spend part of the time in a special education classroom. However, the number of hours spent in a special class is set in accordance with his individual needs and is agreed upon with his parents and school staff in the process of drawing up his individual educational program. Many educators and parents are convinced that children with disabilities, regardless of the type of impairment, should attend the schools attended by children living in their neighborhood. If a child is taken to some other school, he immediately becomes different from everyone else in the eyes of the public. In addition, in this case it is much more difficult for him to establish good relationships with peers and find friends among them. The right of children with Down syndrome, like other children with disabilities, to maximum social adaptation, that is, to attend regular kindergartens and schools, is enshrined in law in Russia.
We focus on international experience
One of the signs of our time is amazing progress in the development and practical application of new methods of teaching children with mental retardation. First of all, this is “early pedagogical assistance” for these children from birth to 4-5 years old (and their parents) and the above-mentioned “integrated education” - the upbringing and training of these children in district kindergartens and schools among normally developing peers. Parents and teachers have become more aware of the need of such children for love, attention, and encouragement; they were convinced that these children, just like others, can benefit from studying at school, actively relaxing and participating in the life of society. One of the consequences of such progress in civilized countries is that all children with Down syndrome are raised in families, and not in special institutions outside the home. Many of them attend regular schools, where they learn to read and write. Most adults with Down syndrome have jobs, find friends and “partners,” and can lead full and fairly independent lives among ordinary people. Our country is still at the beginning of this path.
We use new teaching methods
The growing popularity of early pedagogical assistance programs is due to the results of their implementation. Comparative studies have shown that children who were taught under such programs, by the time they entered kindergarten and school, were already able to do much more than those who were not affected by them. Many children began to attend regular local schools, where they study in general classes according to individual programs. According to research, all children achieve better educational success under conditions of integration. Being among typically developed peers, a special child receives examples of normal, age-appropriate behavior. By attending a community school, these children have the opportunity to develop relationships with children living in their neighborhood. Attending a mainstream school is a key step towards integration into the local community and wider society. Children with moderate and even severe disabilities learn to read and write, communicate with the “healthy” people around them. They master these skills not because they are given some kind of “cure”, but because they were taught what they need, when they need it, and in the way they need it. In our country, centers for early pedagogical assistance are also being created and attempts to integrate the education of such children are beginning. In 1998, the Russian Ministry of Education recommended for widespread use the “Little Steps” Early Pedagogical Assistance Program for children with developmental disabilities, authors: M. Pietersi, R. Trilor.
This is not to say that children with Down syndrome are simply delayed in their overall development and thus only need a simplified program. They have a specific “learning profile” with characteristic strengths and weaknesses. Knowing the factors that make learning easier or more difficult allows teachers to better plan, select, and implement tasks more successfully. Thus, the characteristic learning profile and strategies that are successful in teaching children with Down syndrome must be taken into account, along with each child's individual abilities, interests and characteristics. Teaching children with Down syndrome builds on their strengths: good visual perception and visual learning abilities, including the ability to learn and use signs, gestures and visual aids; ability to learn written text and use it; the ability to learn from the example of peers and adults, the desire to copy their behavior; ability to learn from individual curriculum materials and practical classes.
Relationships with parents and peers
Emotionally, children with Down syndrome are not much different from their healthy peers. Due to a more limited social circle than that of “ordinary” children, children with Down syndrome are more attached to their parents. Friendly relationships with peers are of particular value for such children. By imitating them, children with Down syndrome can learn how to behave in everyday situations, how to play, how to roller skate, ride a bicycle. In order to establish positive, friendly relationships between children with disabilities and normally developing peers, programs of mutual support and patronage of students and the involvement of children with disabilities in extracurricular activities - clubs, sections, etc. should be carried out. As part of mutual support programs, normally developing children help children with disabilities complete assignments, prepare for tests, participate in other classroom and extracurricular activities and activities, etc. This is important primarily for “healthy” children because it creates a favorable learning environment for all children. Experience shows that this is how the priority of universal human values, the free development of the individual is affirmed, citizenship, tolerance, and respect for human rights and freedoms are fostered.
In democratic countries, many young people with Down syndrome, after leaving school, receive primary vocational education that, to one degree or another, corresponds to their interests and capabilities. This allows them to find work in a wide variety of fields. They can work as assistant teachers in kindergartens, as assistants to nursing staff in clinics and social institutions, perform various technical work in offices (they are especially good at working on a computer), work in the service sector - cafes, supermarkets and video libraries, as well as conduct other professional activity. There are cases where people with Down syndrome are engaged in creativity in the visual arts, music, choreography, theater and cinema. In 1997, Pascal Duquesne, an actor with Down syndrome, received the main prize for best actor at the Cannes Film Festival!
The words that some people use to describe others have enormous power. They express attitudes towards each other, opinions and values. People with Down syndrome hear others talk about them and this affects their self-esteem and self-perception.
When talking about a person with Down syndrome, you need to call him by his first or last name. If necessary, you can talk about him as a child or adult with developmental difficulties. Another possible way of communicating this fact is by using the medical term “trisomy 21”. You should communicate with such people in accordance with their age. A person with Down syndrome does not remain an “eternal child.”
“The duckling can fly, but I can’t. He has wings, but I don't. He has a long nose, and I have a short one. The duckling can swim, and I can swim too. The duckling is good and kind. What does he look like? I already said that he has a long nose. It is yellow with speckles, covered with down. Let's say I go into the forest, my nose grows long, feathers grow, I become speckled yellow, I have wings, I can fly across the sky! And I am a duckling!
This essay on the topic “I am like an animal in motion” was written by our daughter Vera, a 7th grade student. It seems like a small achievement for a person at 15 years old, but not for someone with Down syndrome. This diagnosis was made to her in the maternity hospital, almost immediately after birth, which plunged my wife and me into the abyss of difficult experiences for a long time. All the joy and triumph from the birth of a child turned inside out. They consoled us a year later at the European Congress of organizations of parents whose children were born with Down syndrome. We saw the eyes of these parents, calmly and confidently looking at the world, and - with the light of love and joy - at our child. We learned the name of this view - “stimulating”, inspiring for life and development. Before this, there was a nervous search for information, advice like “just take care of her” and the hope that the diagnosis was wrong, which you can hide behind at least for a while. With Vera’s first successes, the joy of communication appeared, and gradually we ourselves learned to “shine” our eyes on our daughter. We learned to treat a child - ours and others - with the expectation of success, we learned to create a “developmental environment”, which, of course, is not easy in our lives. Would we have been consoled earlier, at her birth, by this future essay and a long list of achievements, including the latest - flamenco dancing classes and training in the badminton section? I think yes.
Would all those difficulties upset us - the “barriers” that we habitually overcome in everyday life, the grief that suddenly overtakes us when we meet people of the same age and contemporaries who are much more skillful and independent? Finally, the efforts that the whole family, including immediate family, made for her development and upbringing? We don't know...
We have become different - stronger, braver and older.
But while still younger and more self-confident, we created an organization of parents - the Down Syndrome Association - to protect the rights of our children, as the same parents do in the West, and to pass on our generalized experience.
History of Down syndrome
IDENTIFYING AND OVERCOMING DISADVANTAGE. IN THE DEVELOPMENT OF COMMUNICATION between MOTHER AND CHILD. EARLY AGES WITH DOWN SYNDROME. Specialty 13.00.03 – correctional pedagogy. Dissertation for the degree of candidate of pedagogical sciences. Scientific adviser. Vovka’s mother: Krokoko writes: ‘And the ‘Watch and Learn’ technique, GIRLS, and where can I get it, it’s not anywhere on the Internet, someone posted some work. And a speech pathologist in the kindergarten, and the one we go to privately, and a speech therapist and specialists from group classes at the Down Syndrome center. Veru. Psychology and pedagogy Program for speech development and its theoretical basis Review N.
In our country, the term “Down syndrome” is most often used. Moreover, it is often said that this is an “incurable disease.” Some experts claim that there are even two diagnoses: Down's disease and Down syndrome. They claim that the child’s condition depends on whether he has a disease or syndrome. Such statements are extremely incorrect and absurd.
Down syndrome is not a disease. The word "syndrome" means a specific set of signs or characteristics. The first signs of people with Down syndrome were described by the English physician John Langton Down in 1866. His name served as the name for this syndrome - Down syndrome.
However, it was not until 1859 that the French scientist Jerome Lejeune discovered the cause of the syndrome. The cause that causes Down syndrome is an extra chromosome. Each cell in the human body typically contains 46 chromosomes. Chromosomes carry the characteristics that a person inherits from his parents, and they are arranged in pairs - half from the mother, half from the father. People with Down syndrome have an additional chromosome in the 21st pair, that is, the so-called trisomy occurs, so it turns out that the cells of the body have 47 chromosomes. The diagnosis of Down syndrome can only be made by a geneticist using a blood test showing the presence of an extra chromosome. An extra chromosome appears as a result of chance during the formation of an egg and sperm, or during the first cell division that follows fertilization (i.e.
When the egg and sperm fuse). There is still no clear opinion about what causes this genetic anomaly. Children with Down syndrome are born at the same frequency in all countries of the world, regardless of the level of wealth or environment. Such children are born into families of academics and builders, presidents and the unemployed. Down syndrome is a congenital developmental disorder characterized by mental retardation, impaired bone growth, and other physical abnormalities.
This is one of the most common forms of mental retardation; it affects approximately 10% of patients admitted to psychiatric hospitals. Patients with Down syndrome are characterized by the preservation of physical features characteristic of the early stage of fetal development, including narrow slanted eyes, giving the patients an external resemblance to people of the Mongoloid race, which gave reason to L. Down to call this disease “Mongolism” in 1866 and to propose an erroneous theory racial regression, or evolutionary rollback. In fact, Down syndrome is not racially specific and occurs in all races. The syndrome was experimentally reproduced in rats by X-ray irradiation of the embryo on days 12-13 of pregnancy. In addition to the already mentioned features of the structure of the eyes, patients with Down syndrome also exhibit other characteristic signs: a small round head, smooth, moist, swollen skin, dry thinning hair, small round ears, a small nose, thick lips, transverse grooves on the tongue, which is often protruded, etc. .To. Does not fit in the mouth.
The fingers are short and thick, the little finger is relatively small and usually curved inward. The distance between the first and second fingers on the hands and feet is increased. The limbs are short, height, as a rule, is significantly below normal. The intelligence of patients is usually reduced to the level of moderate mental retardation. The IQ ranges between 20 and 49, although in some cases it may be higher or lower than these limits. Even in adult patients, mental development does not exceed the level of a normal seven-year-old child. The guidelines traditionally describe such traits of patients with Down syndrome as submissiveness, which allows them to adapt well to hospital life, affectionateness, combined with stubbornness, inflexibility, a tendency to imitate, as well as a sense of rhythm and a love of dancing.
However, systematic studies conducted in England and the USA do not confirm this image. Many factors have been considered as possible causes of Down syndrome, but it is now firmly established that there is an underlying abnormality. Chromosomes: Individuals suffering from this disorder typically have 47 chromosomes instead of the normal 46. The extra chromosome is the result of impaired maturation of the germ cells. Normally, when immature germ cells divide, paired chromosomes separate, and each mature germ cell receives 23 chromosomes.
During fertilization, i.e. Fusion of the maternal and paternal cells, the normal set of chromosomes is restored. Down syndrome is not caused by a discrepancy in one of the chromosome pairs, designated 21st.
As a result, the child has an extra (third) 21st chromosome. This condition is called trisomy 21. Although in the vast majority of cases with Down syndrome this trisomy is detected, other chromosomal abnormalities are extremely rare.
Genetic studies on fruit flies (Drosophila) have shown that the most important factor determining the non-divergence of chromosomes during egg maturation is the age of the mother. With regard to Down syndrome, it has long been known that the likelihood of having a sick child increases with increasing age of the mother, and the faster the older she is. The number of children with this syndrome born to mothers after 35 years of age is significantly higher than among younger ones. It is known that the risk of having a child with Down syndrome depends on the age of the mother. For women aged 25 years, the probability of having a child is 1/1400, up to 30-1/1000, at 35 years old the risk increases to 1/350, at 42 years old to 1/60, and at 49 years old to 1/12. Indian scientists have found that the likelihood of having a child with Down syndrome strongly depends on the age of the maternal grandmother: the older she was when she gave birth to her daughter, the greater the likelihood of having affected grandchildren. However, Down syndrome cannot be considered a hereditary disease, since it does not involve the transmission of a defective gene from generation to generation, and the disorder occurs at the level of the reproductive process.
Attempts have been made to treat children with Down syndrome with thyroid and pituitary hormones, but these methods are still in the development stage. Like other mentally retarded children of their level, people with Down syndrome can be taught household skills, motor coordination, speech, and other simple functions needed in daily life.
WHAT IS THE DIFFERENCE OF A BABY WITH DOWN SYNDROME FROM OTHER CHILDREN? The presence of this additional chromosome causes the appearance of a number of physiological characteristics, as a result of which the child will develop more slowly than his peers and will follow the developmental stages common to all. Previously, it was believed that all people with Down syndrome had severe mental retardation and were learning disabilities. Modern research shows that almost all people with the syndrome are retarded in intellectual development, but within this group their intellectual level varies greatly - from slight retardation to moderate and severe retardation.
Down's disease (Down syndrome): causes, forms and treatment
When the number or structure of chromosomes changes, chromosomal diseases occur. Down syndrome is the most commonly diagnosed chromosomal disorder. The disease was first described in 1866 by the English physician Down, who called this syndrome a special form of mental disorder. This disease caused a lot of controversy, and cases of children being born who were diagnosed with Down's disease were becoming more and more common. Experts were unable to determine the cause of the disease. In 1959, the French pediatrician Jerome Lejeune managed to establish that the disease develops due to trisomy of the twenty-first chromosome.
Why does the disease occur?
Each human cell contains a certain number of chromosomes, which are carriers of encoded genetic information. The cells of a healthy person have 23 pairs of different chromosomes, which carry genes necessary for the proper development of the body. In each pair of chromosomes, one is inherited through the sperm from the father, the second through the egg from the mother.
Why does Down's disease occur? The causes of this pathology are the inheritance of an additional chromosome set from one of the parents. Most often, these are two copies of the twenty-first chromosome from the mother and one twenty-first from the father. As a result, there are three twenty-first chromosomes, and their total number is forty-seven. This type of inheritance is called trisomy on the twenty-first chromosome.
Many women blame themselves when they find out that their child has Down syndrome. The reasons should not be looked for in yourself; chromosomes can develop incorrectly regardless of what race the parents are, what climate they live in, what their income is and level of education. There is only one reliable factor that can increase the risk of having a child with this pathology - the age of the mother. The older the woman giving birth, the higher the likelihood of giving birth to a child with Down syndrome. That is why it is necessary to carry out various tests for pregnant women over 35, which makes it possible to identify fetal disease. Many people believe that this pathology is hereditary. Down syndrome is not passed on from one generation to another.
Genetic variations of the disease
The cause of most cases of Down syndrome is trisomy 21. A child with this defect has three chromosomes in the twenty-first pair instead of two, and this is observed in all cells. Such a disorder is caused by abnormalities in cell division during the development of an egg or sperm.
But there is another form of the disease. This is mosaic Down's disease. The reasons for this rare form are defects in cell division after fertilization, and only some of them have an additional chromosome in the twenty-first pair.
When a part of a chromosome in the twenty-first pair is displaced towards another chromosome, another type of disease also occurs, which is called translocation. This shift can occur both before and during conception. Translocation is very rare.
Signs of the disease in newborns
It will not be difficult for an experienced obstetrician to recognize Down syndrome in a newborn. Signs of pathology are visible immediately after birth. From the first days, the disease can be recognized by characteristic signs: a flattened face, a skin fold on the neck, an oblique shape of the eyes, deformed ears, brachycephaly, a flattened back of the head, decreased muscle tone, excessively mobile joints, shortened limbs, the structure of the palms, lack of height and weight.
Less common signs
Such symptoms are typical for 70-90% of children who have Down syndrome. Less common signs are observed in about half of children. This is a constantly slightly open small mouth and a large tongue protruding, a narrow, arched palate, a small chin, a crooked little finger, grooves on the tongue that appear with age, a flat bridge of the nose, a short neck and nose, a horizontal fold on the palms. Such signs are enough to suspect this disease - Down syndrome - in a baby.
In addition to them, there are other appearance features that can be detected upon detailed examination. Such signs include the presence of strabismus, pigment spots along the edge of the iris, clouding of the lens, abnormal structure of the chest, defects of the digestive and genitourinary systems, an open or extra fontanel.
In addition, children with Down syndrome are very similar to each other and do not look like their parents.
Many of the signs described above may indicate a disease, or may simply be a physiological feature of the child. Therefore, based on this alone, a diagnosis cannot be made. To confirm or refute Down syndrome in a baby, you need to conduct blood tests for karyotype.
Prenatal diagnosis
To determine the presence of Down syndrome in the fetus, an ultrasound is performed in the first trimester of pregnancy. This helps to identify specific signs of Down syndrome: improperly formed skeletal bones, enlarged nuchal translucency, heart defects, enlarged renal pelvis, etc. It will not be difficult for an experienced specialist to detect the missing nasal bone, cervical folds, which indicate the accumulation of subcutaneous fluid. In addition, it is necessary to conduct a biochemical blood test of the expectant mother at 10-13 and 16-18 weeks. Down syndrome can be definitively diagnosed at the end of the fifth month of pregnancy.
Features of development
Developmental disorders of “downyat” children can be either pronounced or insignificant. Often such babies have a heart defect, sometimes this requires surgical intervention. A decrease in muscle tone causes the child to begin to walk later, and therefore to learn about the world around him. Because of this, problems arise with the development of speech and writing. In addition, such children often suffer from colds, and they often have hearing and vision impairments, which affects the overall development of the baby.
Intellectual development
It was once believed that children with Down syndrome had severe mental retardation and were unable to learn. But recently, there have been frequent cases when a person with such a diagnosis begins to live independently, gets a job, and actively participates in various types of social activities.
The reason is that the very attitude of society towards this disease has changed. Children diagnosed with Down syndrome are increasingly being left with families and being cared for. In addition, medical care has become better; there are many special centers that work with such children. Of course, it is impossible to predict how a baby with such a deviation will develop, but this also applies to healthy children. Although such children have developmental delays, this does not mean that they are not developing. And at what pace this will happen depends on the conditions created for the baby.
With a disease such as Down's disease, people live approximately 40-50 years. And although the disease is incurable, concomitant diseases, such as heart disease, can be treated well, which, in turn, helps to prolong the patient’s life.
Since children with this pathology have abnormalities in the development of the nervous system, the expectant mother needs to take folic acid supplements, which can prevent the occurrence of more serious disorders.
When treating children with Down syndrome, social support and rehabilitation courses are of no small importance. The main goal in raising and educating such children is family and social adaptation.
Classes in groups and being in children's groups are very effective, which help improve the child's social adaptability and preparation. Such children study in specialized educational institutions, but there are cases of attending regular schools, this helps improve the child’s social preparation.
Classes with a psychologist and speech therapist are useful. When care for a sick baby is organized correctly, a child with such a disease is able to master the same skills as a healthy one, but a little later.
In order for rehabilitation measures to be more effective, it is recommended to take nootropic drugs: Aminolon, Cerebrolysin, as well as B vitamins.
Often, parents of a child diagnosed with Down syndrome do not know how to inform family and friends about this diagnosis. In this situation, it is necessary to talk frankly with loved ones in order to avoid tension in the relationship.
Parents of a sick child must remember that he is an individual with his own hopes, dreams, rights and strengths. The needs of such a baby are no different from the needs of any other child. You shouldn’t focus on this, forgetting about the rest of the family.
There is no need to treat a child with such a disease as a heavy burden. Give your baby your love, and he will answer you in kind.
Do not be embarrassed by the curious glances of strangers; treat him calmly, answering questions from friends and passers-by without embarrassment.
There is no need to refuse new acquaintances if necessary, the main thing is that you and the baby feel comfortable.
Meet parents who have children with the same disease, communicate with them, discuss issues that concern your children.
It is advisable for a child with a disorder such as Down syndrome to attend a regular school, since, studying in a specialized institution, in the eyes of other people he will look different from the rest, which means it will be more difficult for him to make friends and communicate with people. For these children, friendship with other children is very important and helps them gain the necessary social skills.
With properly organized care, early support and psychological assistance, a child with such a disease will grow up quite adequately and will give his parents positive emotions and pleasure from communication.
Down's disease: causes and symptoms
Down's disease is the name of an illness that is familiar to everyone, but few people actually know what its peculiarity is and what the people who suffer from it are like. The symptoms of the disease were first described in 1866 by the English scientist John Langdon Down. As a matter of fact, the syndrome was named in his honor, although the researcher himself called the defect he identified as “Mongolism.” Down perceived the deviation as a type of mental disorder. Later research in this area revealed not only external similarities and developmental difficulties, but also the presence of a defective gene in the DNA. Thus, Down syndrome moved from the category of mental disorders to the category of pathologies.
Down's disease, causes
All women without exception can give birth to a child with this syndrome, regardless of age, social class and race. A genetic defect occurs as a result of chromosome divergence during the formation of gametes, as a result of which an extra third chromosome appears in the 21st pair. In a small percentage of those suffering from this disorder, instead of a whole extra chromosome, only individual fragments of it may be present.
According to WHO statistics, for every 800 children born around the world, there is one with Down syndrome. The older the woman and man, the greater their risk of giving birth to a defective child. The age of the maternal grandmother also has an influence. The later she gave birth to her daughter, the greater her chances of conceiving a child with this syndrome.
Thanks to the capabilities of medicine, today it is possible to identify developmental problems in the early stages of pregnancy. According to statistics, 9 out of 10 women agree to an abortion if abnormalities in fetal development are detected. The statistics on children born are even sadder. In Russia, such newborns are abandoned in 80% of cases right in the maternity hospital. In the Scandinavian countries, not a single official abandonment of such children has been recorded. US citizens adopt other people's abandoned children, raising them and giving them a chance for a normal future.
External anomalies are expressed in the so-called flat face and back of the head, the skull is abnormally shortened and as if flattened, the presence of epicanthus (skin fold near the eyes), short limbs, including the neck. Down's disease also causes weakness in the mouth muscles, causing the mouth to remain open. Very often the palate itself is changed, and dental anomalies occur. In 66% of cases, cataracts are detected in patients in the eighth year of life.
The immunity of such people is weakened, they are susceptible to frequent diseases that are very difficult. Because of this, in the past, most patients died in infancy. Today Down's disease is under control, people are able to live to 55 years or more.
Developmental delay varies for each person born with this syndrome, some begin to walk at the age of two years, others much later. With proper medical care, any child born is able to grow into a full-fledged member of society. If he is lucky with parents who not only do not abandon him, but also make every possible effort to raise him, then a baby born with an extra chromosome will not only be a happy person, a socially active individual, but will also be able to create his own family.
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MINISTRY OF HEALTH AND MEDICAL INDUSTRY OF THE RUSSIAN
FEDERATION
IVANOVSKAYA STATE MEDICAL ACADEMY
DEPARTMENT OF CHILDREN'S DISEASES, FACULTY OF PEDIATRICS
Head Department Professor Shilyaev R.R.
Lecturer Ass. Kopilova E.B.
HISTORY x, 5 months.
Clinical diagnosis: Congenital heart disease (tetralogy of Fallot),
circulatory failure IIA, primary adaptation phase. Hypostature II degree, period of progression, postnatal, mixed origin. Residual effects
Curator: 8th group IV year student of the Faculty of General Medicine
Bashlachev Andrey Alexandrovich.
IVANOVO - 1998
I. PASSPORT DETAILS
FULL NAME. child: x
Age: 5 months.
Date and year of birth: November 26, 1997.
Permanent residence address: Ivanovo region, Lezhnevsky district
Date and time of admission to the clinic: April 22, 1998, 14:45.
Referred by institution: Lezhnevskaya Central District Hospital.
Diagnosis upon referral: ARVI, congenital heart disease (tetralogy of Fallot).
Clinical diagnosis:
Residual effects of ARVI.
II. ANAMNESIS
History of the disease.
Upon receipt of a complaint of cough, fever, anxiety. Cough - with the release of a small amount of mucous sputum.
I fell ill on 17/IV 98, when the temperature rose to 38.3 degrees. After taking aspirin, the temperature returned to normal, but on the morning of 18/IV it rose to 38 degrees. He was examined by a paramedic and ampiox was prescribed. On 18 and 19/IV the temperature did not increase, a dry cough, anxiety, and loss of appetite appeared. When contacting a doctor at the Central District Hospital, a diagnosis was made
"ARVI", the child was sent to the "Mother and Child" clinic for examination and treatment.
The child suffers from a congenital heart defect (the diagnosis was established in the 1st Children's Clinical Hospital in Ivanovo, where the child was treated after the maternity ward). He was examined at the "MiD" clinic in February 1998.
Until the moment of supervision, the child received the following treatment: digoxin, nitrosorbide, panangin for the main disease, as well as lincomycin.
Anamnesis of life.
1. Antenatal period.
Child from the first pregnancy, first birth.
Pregnancy occurred against the background of grade I anemia, varicose veins, diffuse enlargement of the thyroid gland, and acute respiratory viral infection in the second half of pregnancy.
There is no information about the threat of miscarriage, the diet of a pregnant woman, occupational hazards, or measures to prevent rickets.
There is no extragenital pathology in the mother.
The course of labor is normal, delivery is at 40-41 weeks. No obstetric interventions were performed. There is no information on the nature of amniotic fluid and the assessment of the newborn on the Apgar scale.
Conclusion about the development of the child in the antenatal period: a risk factor may be diffuse enlargement of the thyroid gland, ARVI in the second half of pregnancy.
2. Newborn period.
He was born full-term, birth weight 3040 g, length at birth 53 cm. He cried out immediately. No recovery measures were used. There was no birth trauma. Soon after birth, cyanosis appeared.
The remainder of the umbilical cord fell off on the 3rd day, the umbilical wound healed on the 5th day. Was applied to the breast after 1 day.
On the 6th day he was discharged to 1st hospital. Weight at discharge: 3000 g.
Conclusion on the development of the child during the newborn period: weight-height coefficient = 57.3 - first degree malnutrition; pathology of intrauterine development manifested itself - congenital heart disease.
3. Feeding the baby.
Currently on artificial feeding. Complementary foods were introduced at 3.5 months in the form of porridge at 70.0. Receives juices from 1 month, fruit puree - from 2 months. He was weaned at 1.5 months, received formula until 4 months, and currently receives whole milk and formula.
Diet: 7 times a day every 3 hours with a night break of 6 hours.
Conclusion on feeding the child: early transfer to artificial feeding; early introduction of porridge, lack of vegetable puree.
4. Information about the dynamics of physical and psychomotor development.
He has been holding his head up since he was 5 months old, poorly. Doesn't sit, doesn't stand.
Speech development: walking for about 2 months.
The current height is 61 cm (with the proper height for this age being 67 cm), weight - 4266 g (with the proper weight for this height being 6208 g) - weight deficiency
24%.
|Height |61 cm |2 “corridor” |
|Weight |4266 g |1 “corridor” |
|Chest circumference |37 cm |1 “corridor” |
The sum of the corridors is 4, the difference is 1.
Doesn't attend kindergarten.
Conclusion about the psychomotor and physical development of the child: delayed physical and psychomotor development; reduced height and low body weight, grade II hypostatura.
5. Information about preventive vaccinations.
Not carried out.
6. Past diseases.
A diagnosis of congenital heart disease was made.
An allergic reaction to orange juice in the form of erythema of the cheeks and a reaction to ampiox are noted.
From 4.5 months - allergic constitutional dermatitis.
7. Housing and living conditions.
Material and living conditions are satisfactory. Child care is sufficient. The child's routine is age appropriate. Walks are daily. Meals are regular. Behavior at home - the child is restless.
8. Information about the child’s family.
Mother - Baushina Elena Aleksandrovna, 23 years old, does not work. Healthy.
Father - Sergey Evgenievich Baushin, 22 years old, Lezhagropromtrans - driver. Healthy.
There are no occupational hazards or bad habits of the father and mother.
Heredity is not burdened.
Family tree
III. OBJECTIVE RESEARCH
The child's general condition is serious. Weight 4266 g, height 61 cm, head circumference 39 cm, chest circumference 37 cm.
The skin is pale, at rest - cyanosis of the nasolabial triangle, with anxiety - general violet cyanosis. Increased venous pattern on the head. Hyperemia and dilation of blood vessels in the eyelids. Areas of pigmentation in the inguinal folds.
Visible mucous membranes are pale pink, clean.
The subcutaneous tissue is thinned, the skin easily folds.
The ribs and joints are moderately contoured. The thickness of the skin fold on the anterior surface of the abdomen is 0.5 cm. Tissue turgor is reduced.
The muscular system is poorly developed, general muscle hypotonia is noted, and motor activity is reduced.
The postauricular lymph nodes are slightly enlarged and the consistency is dense.
The remaining groups of nodes are not palpable.
Head with pronounced parietal tubercles. The skull is brachycranic.
The large fontanel is practically closed (dimensions - 0.5x0.5 cm). The edges are tight.
Craniotabes, "rosary beads", "bracelets" are not identified.
The shape of the joints is not changed, there is no pain, swelling, or hyperemia, the range of motion is preserved.
Respiratory system.
Hoarseness of voice is noted. Breathing through the nose is somewhat difficult, wheezing. There is no separation.
The chest is enlarged in anteroposterior size.
The number of respiratory movements is 60/min, breathing is rapid and shallow.
Accessory muscles and wings of the nose are involved in the act of breathing.
Shortness of breath is mixed.
Respiratory failure degree IIA.
On palpation, the chest is elastic and painless. Percussion sound with a boxy tint.
On auscultation of the lungs, breathing is intense, vesicular, and wire-like moist coarse bubble rales are heard.
Circulatory organs.
On the radial arteries the pulse is synchronous, filling is reduced, thread-like, rhythmic. Pulse rate 145 beats/min. The walls of the artery are elastic.
On examination, the cardiac region is unchanged. The heartbeat is not visible.
The apical impulse is palpated in the fifth intercostal space 1 cm outward from the left midclavicular line, localized, of moderate height and strength, not resistant. The cat's purring cannot be detected.
Limits of relative cardiac dullness:
Right - along the right edge of the sternum.
Left - 2 cm outward from the left midclavicular line.
Upper - II rib along the left parasternal line.
Limits of absolute cardiac dullness:
Right - along the left edge of the sternum.
Left - along the left midclavicular line.
Upper - III rib along the left parasternal line.
On auscultation, heart sounds are rhythmic. The second tone above the pulmonary artery is weakened. A rough systolic murmur is heard at all points, maximally in the fourth intercostal space on the left, carried out beyond the heart to the vessels of the neck, to the axillary regions, to the back. The murmur occupies the entire systole, somewhat intensifying towards the 2nd tone.
Digestive and abdominal organs.
Appetite is reduced. Regurgitation is sometimes observed.
The mucous membrane of the oral cavity is pink, moist, there is moderate hyperemia of the palatine arches and the posterior wall of the pharynx. The tongue is clean, pink, moist.
Dental formula:
1 1
Teeth began to erupt at 3 months. Tonsils within the palatine arches, no pathological changes are noted.
The abdomen is round, soft, painless, accessible to deep palpation in all parts. Hypotonia of the muscles of the anterior abdominal wall is noted. Free fluid in the abdominal cavity is not detected.
Dimensions of the liver according to Kurlov: 6 cm, 5 cm, 5 cm. On palpation - 3 cm from under the edge of the costal arch, painless, smooth surface.
The spleen is not palpable, percussion longitudinal size is 4 cm, transverse - 2 cm.
Genitourinary system.
Urination is free and painless. The color of the urine is straw-yellow, without pathological impurities, the smell is normal.
There is no swelling or hyperemia of the skin in the lumbar region. There is no pain when pressing on the lower back. The kidneys are not palpable. Symptom
Pasternatsky is negative on both sides.
The external genitalia are formed according to the male type, correctly.
There are no developmental defects or signs of inflammation.
Nervous system.
There is increased excitability with a predominance of negative emotions. Restless, shallow sleep. Tendon reflexes are reduced.
Oral and spinal segmental automatisms are absent (there are residual phenomena of the grasping reflex in the upper extremities).
Mesencephalic adjustment automatisms (trunk rectifying reaction, Landau reflexes) are not detected.
There are no meningeal symptoms.
There is no excessive sweating, pink dermographism.
Sense organs.
The state of vision, hearing, smell, taste, and skin sensitivity is not impaired.
Preliminary conclusion (diagnostic summary).
According to the anamnesis and objective examination, the following was revealed:
- delayed physical and neuropsychic development; hypostatura II degree;
- catarrhal symptoms from the upper respiratory tract, respiratory failure;
- presence of pathology of the cardiovascular system (weakening of the second tone over the pulmonary artery, rough systolic murmur, established diagnosis of “congenital heart disease”);
- manifestations of decreased tolerance to food (decreased appetite, regurgitation);
- changes in the central nervous system: restless sleep, increased excitability, emotional lability.
IV. DATA OF LABORATORY AND INSTRUMENTAL STUDIES
1. Conclusion on ECG dated 23/IV 98.
The position of the EOS is vertical. Sinus rhythm, heart rate 150/min, signs of overload. I tone is normal, II is weakened over the pulmonary artery.
High-frequency, high-amplitude pansystolic murmur, intensifying toward the second tone, is recorded at all points of auscultation, maximum at
IV intercostal space on the left. At the apex and in the fourth intercostal space on the left there is a short mesodiastolic murmur.
Tetralogy of Fallot. Exclude PDA.
2. Examination by an otorhinolaryngologist 23/IV 98.
Conclusion: no pathology of the ENT organs was identified.
3. General blood test dated 23/IV 98.
Red blood cells - 4.05 T/l
Hemoglobin - 124 g/l
Color index - 0.93
Leukocytes - 4.2 G/l
Eosinophils - 4%
Segmented - 15%
Monocytes - 6%
Lymphocytes - 75%
ESR - 2 mm/h
Conclusion: I degree anemia, leukopenia, lymphocytosis, neutropenia.
4. General urine analysis dated 23/IV 98.
Color - colorless
The reaction is acidic
Specific gravity - little urine
Transparent
Protein - negative
Epithelial cells are flat - single in the field of view
Leukocytes - 4-5-6 in the field of view
Oxalates++
Slime +
Conclusion: oxalaturia.
5. Coprogram dated 23/IV 98.
Consistency - decorated
Yellow color
Digestible muscle fibers +
Fatty acids++
Soap +
Conclusion: no pathology.
6. Blood test for clotting time and acid-base balance from 24/IV 98.
Blood clotting - 12"30"
Hematocrit - 39% pH = 7.31 pCO2 = 39.5 mm Hg.
BE = -5.9
Conclusion: compensated acidosis.
7. Biochemical blood test dated 24/IV 98.
Total protein - 59.0 g/l
Potassium - 5.1 mmol/l
Sodium - 137 mmol/l
Calcium - 2.14 mmol/l
Conclusion: hypoproteinemia, hypocalcemia.
8. X-ray of the lungs from 24/IV 98.
The pulmonary pattern is significantly enhanced due to hypertension. The roots are structureless. The sinuses are free. The heart is enlarged in diameter to the left.
9. Neurosonography from 24/IV 98.
Brain structures are located correctly, brain structures have increased echo density. The ventricular system is not dilated. The choroid plexuses are without features. Interhemispheric fissure 4.0 mm. No focal changes in the basal ganglia and brain matter were detected.
10. Echocardiography from 24/IV 98.
Enlargement of the right cavities of the heart, high membranous ventricular septal defect, hypoplasia of the pulmonary artery trunk with acceleration of blood flow in it to 3.6 m/s with PGav=50 mm Hg.
Dextroposition of the aorta.
Conclusion: tetralogy of Fallot.
11. Blood test for antibodies to HIV from 27/IV 98.
The result is negative.
12. Urinalysis according to Nechiporenko from 27/IV 98.
Leukocytes - 250/ml
Red blood cells - 0
Cylinders - 0
Conclusion: no pathology.
TEMPERATURE SHEET
BH Ps T
50 160 40
40 150 39
30 140 38
25 130 37
20 120 36
V. OBSERVATION DIARIES
|Date, T, | Patient examination data| Appointments|
|Ps,BH | | |
|04/27/98 |The main condition is serious |Diet therapy. |
|T=36.8 |disease. Complaints about restless |Nitrosorbide. |
|BH=34 |sleep, poor appetite. Cyanosis |Triampur. |
|Ps=136 |nasolabial triangle at rest, |Panangin. |
| | general violet cyanosis with | Cefazolin. |
| |concern. For internal organs – |Furacilin-adrenaline|
| |no changes. |new drops in the nose. |
| | |Luminal. |
|04/28/98 |The condition is serious. Complaints about infrequent |Same. |
|T=37.0 |cough, fever. | |
|BH=42 |Child is lethargic, motor activity| |
|Ps=144 |reduced, muscular | |
| |hypotension. For internal organs – without| |
| |changes. | |
|04/29/98 |Stable condition. Temperature with |Same. |
|T=39.6 - 37.0|febrile in the morning, then decreased to| |
| | low-grade numbers. I don't feel well | |
|BH=48 |worse. Sucks willingly, volume of nutrition | |
|Ps=160 |absorbs, does not spit up. Cough | |
| |rare. There is no swelling. Wheezing in the lungs | |
| |no. Systolic murmur of former | |
| |properties | |
|04/30/98 |At night, 3 stools, watery. In the morning |Same. |
|T=37.3 |there was no chair. Belly soft, rumbling | |
|RR=42 |along the entire intestine. Others | |
|Ps=164 |same complaints. By organs – without | |
| |changes. | |
Conclusion
During supervision, no improvement in the condition was observed.
VI. DIFFERENTIAL DIAGNOSIS
Tetralogy of Fallot must be differentiated from another common defect - transposition of the great vessels, since these conditions have similar clinical signs:
- pronounced cyanosis;
- shortness of breath;
- dyspnea-cyanotic attacks during anxiety;
- malnutrition;
- delayed psychomotor development, muscle hypotonia;
- signs of overload of the right heart on the ECG.
Cyanosis, which manifests itself from the moment of birth, is more characteristic of transposition of the great vessels than of tetralogy of Fallot, but the patient has a number of signs that are not characteristic of transposition, namely:
- rough systolic organic murmur with a maximum in the third or fourth intercostal space on the left, conducted to the vessels of the neck, to the axillary region and to the back;
- weakening of the second tone over the pulmonary artery.
VII. DIAGNOSIS AND ITS RATIONALE (FINAL DIAGNOSIS)
Clinical diagnosis:
Congenital heart disease (tetralogy of Fallot), circulatory failure IIA, primary adaptation phase. Hypostature II degree, period of progression, postnatal, mixed origin.
Residual effects of ARVI.
The diagnosis is based on the following data:
1. Auscultatory pattern characteristic of tetralogy of Fallot (weakening
II tone above the pulmonary artery, the presence of a rough systolic murmur conducted outside the heart) and data from instrumental research methods (ECG, PCG, echoCG, radiography).
2. Pale skin, cyanosis of the nasolabial triangle at rest; general violet cyanosis with anxiety, accompanied by shortness of breath.
3. Delayed physical and neuropsychic development caused by the presence of heart disease and dietary errors. Combined retardation in growth and weight gain.
4. Decreased food tolerance.
5. Increased excitability, psycho-emotional lability, predominance of negative emotions.
6. Muscle hypotonia, hyporeflexia.
7. Long-term low-grade fever, catarrhal symptoms from the upper respiratory tract.
VIII. ETIOLOGY AND PATHOGENESIS
The cause of the development of congenital heart defects is not fully understood.
The incidence of such anomalies is approximately 1/120 live births.
An undoubted role in their occurrence is played by genetic, hereditary predisposition. For example, it is known that children with trisomy 13 or trisomy 18 tend to have severe heart defects. Congenital heart defects can also be observed in other hereditary diseases: Down syndrome (trisomy 21),
Turner-Shereshevsky (SH), Holt-Oram syndrome. Congenital heart disease may be caused by maternal disease (eg, diabetes mellitus or systemic lupus erythematosus), environmental teratogens (eg, thalidomide), or a combination of similar factors. Viral infections (including subclinical) suffered by a woman in the first 3 months of pregnancy are important: rubella, influenza, infectious hepatitis.
In general, it is generally accepted that the risk of having a child with a heart defect if there is one first-degree relative in the family is about 2-3%; For children of sick parents, this risk is higher.
In the presence of a normal healthy heart after the neonatal period
(when a restructuring of the cardiovascular system occurs with the closure of the foramen ovale and ductus arteriosus, a decrease in pulmonary vascular resistance to the level characteristic of adults), the systemic and pulmonary circulations are completely separated, and the intracardiac pressure in the right chambers is lower than in the corresponding left ones. The degree of violation of these relationships determines the hemodynamic consequences of congenital heart defects.
The following congenital heart defects are distinguished:
- with overflow of the pulmonary circulation;
- with depletion of his blood;
- with normal pulmonary circulation, sometimes with depletion of the systemic circulation.
Tetralogy of Fallot refers to defects with impoverishment of the small circle.
With the classic version of tetralogy of Fallot, 4 signs are found:
- stenosis of the outflow tract of the right ventricle at various levels;
- ventricular septal defect;
- hypertrophy of the right ventricular myocardium;
- dextroposition of the aorta.
The presence of these anatomical changes determines the hemodynamic features in such patients:
- blood flows from the right ventricle into the narrowed pulmonary artery and
the aorta “riding” on the interventricular septum;
- blood enters the aorta from the left (arterial) and from the right
(venous) ventricles. as a result of limited blood flow into the pulmonary circulation and significant discharge from the right ventricle into the aorta, cyanosis develops. The severity of cyanosis depends on the absolute amount of unsaturated hemoglobin; its recognition can be difficult in anemia. As a result of prolonged low saturation of arterial blood with oxygen, “drumsticks” and “watch glasses” develop;
- overload of the right ventricle occurs. The development of right ventricular hypertrophy is especially influenced by its adaptation to pressure in the aorta;
- compensatory collateral circulation gradually arises between the systemic circle and the lungs, which is carried out mainly through the dilated arteries of the bronchi, chest wall, pleura, pericardium, esophagus and diaphragm;
- polycythemia develops over time (erythrocytes up to 8 T/l, hemoglobin up to 250 g/l).
IX. TREATMENT AND ITS RATIONALE
Treatment of this patient should consist of treatment of heart disease and associated circulatory failure, treatment of hypostatura
(hypotrophy), treatment of ARVI.
Radical elimination of the defect is only possible through surgery.
It is also possible to perform a palliative operation (aortopulmonary anastomosis), but it is necessary only in cases where dyspnea-cyanotic attacks are not controlled by conservative therapy, there is a lag in physical development or low mobility against the background of severe hypoxemia, or the anatomical structure of the defect does not allow radical correction. In any case, indications and contraindications for surgery should be established only after treatment of other diseases.
Diet therapy.
Aimed mainly at treating malnutrition. When prescribing dietary nutrition, two basic principles must be observed:
1. The principle of “rejuvenation” of food, i.e. the use of human milk or adapted formulas intended for earlier ages.
This ensures that the alimentary canal is protected from the over-irritating effects of food.
2. Two-phase power principle:
The period of determining food tolerance, taking into account the individual characteristics of the body;
A period of transitional and optimal nutrition that meets the needs of reparation, ongoing growth and development of the child.
Ek54
An example of diet therapy.
Daily food volume = 1/7 of body weight = 600 ml.
Diet: 7 meals a day every 3 hours with a night break of 6 hours.
The main food is whole milk, 90 ml per feeding. For the second feeding - cottage cheese 20.0, egg yolk - 1/2. Between feedings - liquid as needed (glucose-saline solutions, vegetable and fruit decoctions, tea).
6.00 - milk 90 ml
9.00 - milk 90 ml, cottage cheese 20.0, egg yolk 1/2
12.00 - milk 90 ml
15.00 - milk 90 ml
18.00 - milk 90 ml
21.00 - milk 90 ml
24.00 - milk 90 ml
In the future, when tolerance indicators are normalized, complementary foods should be introduced, starting with vegetable puree, and then porridge.
Drug therapy.
Treatment of heart failure.
Digoxin used before supervision should be discontinued, since in tetralogy of Fallot they can increase the tendency of pulmonary artery stenosis to spasm by increasing the inotropic function of the myocardium.
1. Nitrosorbide 0.001 4 times a day.
Antianginal drug. It has also found use as a peripheral vasodilator in heart failure. By reducing the tone of peripheral venous vessels (venules), the drug reduces venous blood flow to the heart, pressure in the pulmonary vessels, shortness of breath, and cyanosis.
2. Triampur 1/4 tablet every other day.
A drug from the group of potassium-sparing diuretics. Reduces the permeability of the cell membranes of the distal tubules for sodium ions and increases their excretion in the urine without increasing the excretion of potassium ions. Used to relieve edema in heart failure.
3. Panangin 1/4 tablet 3 times a day.
A preparation containing potassium aspartate and magnesium aspartate. Can be used in conjunction with digitalis preparations to prevent hypokalemia. Potassium ions have the ability to slightly reduce tachycardia.
Treatment of ARVI, prevention of secondary bacterial infection.
1. Cefazolin 100 thousand 2 times IM (from 29/IV - 200 thousand)
First generation cephalosporin antibiotic. Has a wide spectrum of action.
2. Furacilin-adrenaline nasal drops, 2 drops 3 times a day.
They have a vasoconstrictor and antiseptic effect. Used for acute rhinitis to facilitate nasal breathing.
To relieve manifestations of the central nervous system (restless sleep, increased excitability), it is advisable to prescribe Luminal 0.1% solution, 1 teaspoon 2 times a day. The drug is an anticonvulsant and in small doses has a sedative and hypnotic effect.
X. EPICRISIS
Baushin x, 5 months, is undergoing inpatient treatment at the Mother and Child clinic. He was admitted to the clinic on April 22, 1998 with a diagnosis of ARVI, congenital heart disease (tetralogy of Fallot). After the examination, a clinical diagnosis was made: congenital heart disease (tetralogy of Fallot), circulatory failure IIA, primary adaptation phase. Hypostature II degree, period of progression, postnatal, mixed origin.
Residual effects of ARVI.
The following treatment was prescribed: diet therapy, nitrosorbide, triampur, panangin, cefazolin, furatsilin-adrenaline nasal drops, luminal.
The treatment was tolerated without complications, but no improvement was observed during treatment.
It is recommended to continue treatment.
DATE Curator's signature
Syndro?m Da?una (trisomy on chromosome 21) is one of the forms of genomic pathology, in which most often the karyotype is represented by 47 chromosomes instead of the normal 46, since the chromosomes of the 21st pair, instead of the normal two, are represented by three copies. There are two more forms of this syndrome: translocation of chromosome 21 to other chromosomes (usually on 15, less often on 14, even less often on 21, 22 and Y chromosome) - 4% of cases, and a mosaic variant of the syndrome - 5%.
The syndrome was named after the English physician John Down, who first described it in 1866. The connection between the origin of the congenital syndrome and changes in the number of chromosomes was identified only in 1959 by the French geneticist Jerome Lejeune.
The word "syndrome" means a set of signs or characteristics. When using this term, the preferred form is “Down syndrome” rather than “Down disease.”
The first International Down Syndrome Day was held on March 21, 2006. The day and month were chosen according to the pair number and chromosome number.
Story
John Langdon Down
The English physician John Langdon Down was the first to describe and characterize the syndrome, later named after him, in 1862, as a form of mental disorder. The concept became widely known after he published a report on this topic in 1866. Because of the epicanthus, Down used the term Mongoloids (the syndrome was called “Mongolism”). The concept of Down syndrome was very tied to racism until the 1970s.
In the twentieth century, Down syndrome became quite common. The patients were observed, but only a small part of the symptoms could be relieved. Most patients died as infants or children. With the emergence of the eugenics movement, 33 of the 48 American states and a number of other countries began programs for forced sterilization of persons with Down syndrome and comparable degrees of disability. This was also part of the T-4 killing program in Nazi Germany. Legal challenges, scientific advances, and public protests led to the cancellation of such programs in the decade after the end of World War II.
Until the mid-20th century, the causes of Down syndrome remained unknown, but the relationship between the likelihood of having a child with Down syndrome and the age of the mother was known, and it was also known that all races were susceptible to the syndrome. There was a theory that the syndrome was caused by a combination of genetic and hereditary factors. Other theories held that it was caused by injuries during childbirth.
With the discovery of technologies in the 1950s that made it possible to study the karyotype, it became possible to determine chromosome abnormalities, their number and shape. In 1959, Jérôme Lejeune discovered that Down syndrome is caused by trisomy 21.
In 1961, eighteen geneticists wrote to the editor of The Lancet that Mongolian idiocy had "misleading connotations" and that it was an "embarrassing term" and should be changed. The Lancet supports the name Down syndrome. The World Health Organization (WHO) officially removed the name "Mongolism" in 1965 after an appeal from Mongolian delegates. However, even 40 years later, the name "Mongolism" appears in leading medical textbooks, such as Pervasive and Systematic Pathologies, 4th edition (2004), edited by Professor Sir James Underwood. Advocates for the rights of patients and parents of patients welcomed the elimination of the Mongoloid label hung on their children. The first group in the United States, the Mongoloid Development Council, changed its name to the National Down Syndrome Association in 1972.
Epidemiology
Down syndrome is not a rare pathology - on average there is one case in 700 births; At the moment, due to prenatal diagnosis, the frequency of births of children with Down syndrome has decreased to 1 in 1100. The anomaly occurs with the same frequency in boys and girls.
The incidence of births of children with Down syndrome is 1 in 800 or 1000. In 2006, the Centers for Disease Control and Prevention estimated it to be one in 733 live births in the United States (5,429 new cases per year). About 95% of them have trisomy 21. Down syndrome occurs in all ethnic groups and among all economic classes.
The age of the mother affects the chances of conceiving a child with Down syndrome. If the mother is from 20 to 24, the probability of this is 1 in 1562, if the mother is from 35 to 39, then 1 in 214, and over the age of 45, the probability is 1 in 19. Although the probability increases with the age of the mother, 80% of children with this syndrome are born to women under 35 years of age. This is explained by the higher birth rate in this age group. According to recent data, paternal age, especially if older than 42 years, also increases the risk of the syndrome.
Modern research (as of 2008) has shown that Down syndrome is also caused by random events during the formation of germ cells and/or pregnancy. Parental behavior and environmental factors have no influence on this.
After the Chernobyl accident, an increase in the number of congenital pathologies was found in various areas of Belarus between 1986 and 1994, but it was approximately the same in both contaminated and clean areas. [source not specified 884 days] In January 1987, an unusual number was reported a large number of cases of Down syndrome, but there was no subsequent trend towards an increase in incidence.
Pathophysiology
Down syndrome is a chromosomal pathology characterized by the presence of additional copies of genetic material on chromosome 21, either completely (trisomy) or partially (for example, due to translocation). The consequences of having an extra copy vary greatly depending on the degree of copy, genetic history, and pure chance. Down syndrome occurs in both humans and other species (for example, it was found in monkeys and mice). More recently, researchers have bred transgenic mice with human chromosome 21 (in addition to the standard set of mice). Addition of genetic material can be carried out in different directions. Typical human
The karyotype is designated as 46,XY (male) or 46,XX (female) (the difference in sex is carried by the Y chromosome).
Trisomy
Trisomy is the presence of three homologous chromosomes instead of the normal pair.
Down syndrome and similar chromosomal abnormalities are more common in children born to older women. The exact reason for this is unknown, but it appears to have something to do with the age of the mother's eggs.
Trisomy occurs because the chromosomes do not separate during meiosis. When fused with a gamete of the opposite sex, the embryo produces 47 chromosomes, and not 46, as without trisomy.
Trisomy of the 21st chromosome is the cause of Down syndrome in 95% of cases, and in 88% of cases due to non-disjunction of maternal gametes and in 8% of male gametes.
Mosaicism
Trisomy is usually caused by non-disjunction of chromosomes during the formation of the parent's sex cells (gametes), in which case all cells of the child's body will carry the anomaly. With mosaicism, nondisjunction occurs in the embryonic cell in the early stages of its development, as a result of which the karyotype disturbance affects only some tissues and organs. This variant of the development of Down syndrome is called “mosaic Down syndrome” (46, XX/47, XX, 21). This form of the syndrome is usually milder (depending on the extent of the altered tissues and their location in the body), but is more difficult for prenatal diagnosis.
This type of syndrome appears in 1-2% of cases.
Robertsonian translocations
Additional material from chromosome 21 causing Down syndrome may result from Robertsonian translocations in the karyotype of one of the parents. In this case, the long arm of the 21st chromosome is attached to the arm of another chromosome (most often the 14th). The phenotype of a person with Robertsonian translocations is normal. During reproduction, normal meiosis increases the chance of trisomy 21 and the birth of a child with Down syndrome. Translocations with Down syndrome are often called familial Down syndrome. This does not depend on the age of the mother and rather shows the equal role of parental organisms in the occurrence of Down syndrome. This type of syndrome occurs in 2-3% of all cases.
Forms of Down syndrome
In approximately 91% of cases, a non-hereditary variant of the disease occurs - simple complete trisomy of chromosome 21, caused by chromosome non-disjunction during meiosis. Approximately 5% of patients have mosaicism (not all cells contain an extra chromosome). In other cases, the syndrome is caused by a sporadic or inherited translocation of chromosome 21. Typically, such translocations result from the fusion of the centromere of chromosome 21 and another acrocentric chromosome. The phenotype of patients is determined by trisomy 21q22. The repeated risk of having a child with Down syndrome in parents with a normal karyotype is about 1% with normal trisomy in the child.
Information about these rare forms is important for parents, since the risk of having other children with Down syndrome varies with different forms. However, these differences are not that important for understanding child development. Although professionals tend to believe that children with the mosaic form of Down syndrome are less developmentally delayed than children with other forms of this syndrome, there are no sufficiently convincing comparative studies on this topic yet.
Diagnostics
A pregnant woman may undergo testing to detect fetal abnormalities. Many standard prenatal examinations can detect Down syndrome in the fetus. For example. There are specific ultrasound signs of the syndrome. Genetic consultations with genetic tests (amniocentesis, chorionic villus sampling, cordocentesis) are usually offered to families at greatest risk of having a child with Down syndrome. In the United States, invasive and noninvasive screenings are available to all women, regardless of age. However, invasive examinations are not recommended if the woman is over 34 years old and non-invasive examinations have not shown probable violations.
Amniocentesis and chorionic villus sampling are considered invasive tests because they involve the insertion of various instruments into a woman's uterus, which carries some risk of damage to the uterine wall, the fetus, or even miscarriage. The risk of miscarriage with chorionic villus biopsy is 1%, with amniocentesis - 0.5%. There are several non-invasive tests available and they are usually performed at the end of the first or beginning of the second trimester. In each of them there is a chance of getting a false positive result, that is, the examination will show that the fetus has Down syndrome, although in fact it is healthy. Even with the best screenings, the probability of detecting the syndrome is 90-95%, and the false-positive rate is 2-5%.
At the moment, aminocentesis is considered the most accurate examination. To obtain results from a woman, it is necessary to take amniotic fluid for analysis, in which fetal cells are later detected. Laboratory work may take several weeks, but the probability of a correct result is 99.8%. The false positive rate is very low.
Characteristics usually associated with Down syndrome
Typically, Down syndrome is accompanied by the following external signs (according to data from the Downside Up Center brochure):
1) “flat face” - 90%
2) brachycephaly (abnormal shortening of the skull) - 81%
3) skin fold on the neck in newborns - 81%
4) epicanthus (vertical skin fold covering the medial canthus) - 80%
5) hypermobility of joints - 80%
6) muscle hypotonia - 80%
7) flat back of the head - 78%
8) short limbs - 70%
9) brachymesophalangia (shortening of all fingers due to underdevelopment of the middle phalanges) - 70%
10) cataracts over the age of 8 years - 66%
11) open mouth (due to low muscle tone and the special structure of the palate) - 65%
12) dental anomalies - 65%
13) clinodactyly of the 5th finger (crooked little finger) - 60%
14) arched (“Gothic”) palate - 58%
15)flat bridge of the nose - 52%
16) grooved tongue - 50%
17) transverse palmar fold (also called “monkey”) - 45%
18) short wide neck - 45%
19)CHD (congenital heart defect) - 40%
20) short nose - 40%
21) strabismus (squint) - 29%
22) chest deformity, keeled or funnel-shaped - 27%
23) pigment spots along the edge of the iris = Brushfield spots - 19%
24) episyndrome - 8%
25) stenosis or atresia of the duodenum - 8%
26) congenital leukemia - 8%.
Accurate diagnosis is possible based on a blood karyotype test. It is impossible to make a diagnosis based solely on external signs.
Developmental prospects for a child/adult with Down syndrome
The degree of manifestation of mental and speech development delay depends on both congenital factors and activities with the child. Children with Down syndrome are teachable. Classes with them using special methods that take into account the peculiarities of their development and perception usually lead to good results.
The life expectancy of adults with Down syndrome has increased - today the normal life expectancy is more than 50 years. Many people with this syndrome get married. Men have a limited sperm count, and most men with Down syndrome are infertile. Women experience regular periods. At least 50% of women with Down syndrome can have children. 35-50% of children born to mothers with Down syndrome are born with Down syndrome or other disabilities.
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