What is the risk of having a child with Down syndrome? Down syndrome

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People with Down syndrome are looking for love, warmth, family comfort. But can they create a full-fledged family and can they have children? What kind of sexual development do these people have? What is needed for the happiness of children who are only slightly different from their peers, but these differences provide many obstacles in life, and it takes courage to overcome them.

Sex education for teenagers

Of course, people with Down syndrome are special. They differ psychologically mental development, as well as physically. In fact, the only serious problem is developmental delay. But it must be taken into account that completely healthy people, as a result of an incorrect life, decline in mental development and physical condition of the body much lower than with the syndrome from which sunny children suffer. If great efforts are made, a child with the syndrome can achieve a lot - complete higher education, work, drive a car. The main thing is to understand that a person can overcome all difficulties if there is a desire and faith in victory.

A child with a congenital syndrome is special, but if you want him to socialize and find himself in this life, he needs to be treated as completely healthy. And some lag will be compensated by your work. The concern should not be to indulge all desires, but to make the child feel completely normal and viable.

If you want your child to grow up normally, treat him as normal. Teach that sexual relations are possible only in marriage and tell that self-gratification is harmful and sinful. After all, people who are self-satisfied lose their desire to fight for better life, and in the case of Down syndrome this is especially dangerous. It is necessary to direct increased teenage sexuality in the right direction - to study, to learn new skills. Need to pay attention increased attention interpersonal relationships- rules of conduct, etiquette, even with poor understanding, they can be learned by heart.

If a child attends a regular children's group, you need to ensure that there is no violence or moral pressure against him. He must be aware of what problems he may encounter and he must have emergency contact with his parents. Any case of inappropriate attitude towards a child must be nipped in the bud - remember, often initial stage If you have an incorrect attitude, you can get by by talking with incorrect peers and their parents, teachers, and there will be no need to change the team and educational institution.

Children with the syndrome are very vulnerable, but they need to develop intensively. They need to tell the stories of many successful people who are also affected by this congenital disease. Children should also have before their eyes stories of successes of people who got out of seemingly hopeless situations. life situation. You need to understand that children with Down syndrome are full-fledged, but they have developmental features. Children who understand their purpose - to prove to everyone their charm, intelligence and success - can go far, and for this they do not need to focus on their sexuality. Anyone who talks about the normality of self-satisfaction and free sexual relations is a criminal and a doubly criminal in relation to these special children.

Girls and women

Sexual activity in women with Down syndrome is low. The calling of these people is to fight for their place in society and to abstain. But sexual activity can still occur. Very often girls become victims of sexual exploitation and violence.

Girls can find themselves in an environment with very strong psychological discomfort; in this environment they can be easily deceived and they can succumb to incomprehensible actions that, in their opinion, will be able to establish normal communication. But they can simply be used for dirty purposes, creating the illusion of smoothing out loneliness. They may also simply be subject to sexual violence, since this crime has a chance of not being punished. Relatives and friends must prevent the emergence of an environment in which unlawful actions against their ward are possible.

Despite some lag, menstrual cycle in women with the syndrome it begins almost the same as in ordinary women - from 12 to 14 years. The duration of the cycle is approximately the same as that of healthy girls. No delays or anomalies were detected. With enough education, menstruating women can take care of themselves. Menopause occurs after 40 years of age.

About 70% of women with Down syndrome can become pregnant, meaning they are fully reproductive. But the body of women who are sick with this genetic disease can have a hard time going through pregnancy, because they have many other diseases - heart disease, disease thyroid gland, frequent convulsions, smaller pelvic organs. If a woman becomes pregnant, she needs to be constantly examined and in the maternity hospital she needs to stay in a department where they can monitor the impact of complications on pregnancy and childbirth.

It should be taken into account that the risk of having a child with Down syndrome is high, and other genetic and physical abnormalities are also possible. But there is also a chance that the child will be completely healthy. A pregnant woman with genetic diseases should be treated the same as an ordinary woman, only taking into account the weakness of her body and providing the necessary medical and psychological assistance.

Guys and men

Ninita Panichev is more talented than most ordinary guys

Puberty in men with Down syndrome occurs at the same age as in men without the genetic disease. Genitals normal size, smaller testicular size is possible. Due to the fact that the syndrome has many physical abnormalities, the abnormalities sometimes also affect the genital organs, therefore, at the time of puberty, it is advisable to show boys to a urologist.

Men in 99% of cases are childless due to insufficient sperm health. That is, theoretically, a small percentage of men can have offspring. But it is still advisable for men to abstain from sexual relations in order to avoid the risk of having children with disabilities. And energy can be used for development and social growth.

Marriage

People with Down syndrome are lonely and have a desire to have an ordinary family. There are known marriages in which it was predominantly women who had the genetic disease; men marry much less frequently.

There is an ongoing debate in society about whether people with genetic disorders even have the right to marry and have children. Since the child has a high probability of being born with a non-standard set of chromosomes, deliberately having children is too cruel. But even in cases where children were born with a normal set of chromosomes, and such cases are not uncommon, various other abnormalities were observed in them. Therefore, the fate of such people is abstinence and the desire to find a place for themselves in society other than in family ties. Of course, people with the syndrome can feel sympathy for each other, meet, communicate, this develops their sensuality and in general they grow as individuals, but the relationship should be platonic.

If a woman becomes pregnant, of course, she needs to give birth, and the mother should be supported by her family and society as a whole, since such children may feel disadvantaged. In addition, people who can socialize such children should be involved in education. Regardless of how children are born, they are members of society, and if those around them do not pay attention to the problems of citizens with problems, they will receive a harsh answer - in the future social problems will only get worse.

Children who are born with genetic diseases and some retardation can surpass the development of completely normal children. Those children who, due to life circumstances, try to develop, can achieve a lot - people with the syndrome become actors, they receive not only higher education, but also teach, become doctors of science. Therefore, those who say that children with the syndrome are inferior simply attach labels that prevent many from developing, although in fact there is an opportunity to achieve a lot in this life.

Down syndrome was first described by the famous British physician John Langdon Down, who began his research work in 1882, and in 1886 publicly published its results.

This is one of those pathologies that every person has an idea about. This disease is especially worrying for expectant mothers who are warily awaiting their first screening. According to recent decades, this pathology occurs in every 700 babies born.

Statistics of several recent years shows a different figure - 1 child born with pathology per 1100 newborns, which became possible thanks to highly accurate prenatal diagnostics and early interruption such a pregnancy.

About 80% of children with this pathology are born to women under 35 years of age - despite the relatively low risk of the fetus developing this chromosomal pathology, in this case age group there is a peak birth rate. Every year, about 5,000 newborn babies with Down syndrome are added worldwide.

Down syndrome affects both girls and boys equally; the disease has no ethnic distribution and is found everywhere.

In 2006, International Down Syndrome Day was introduced on March 21. This day is held in order to increase public awareness of this common pathology and improve the quality of life of sick people. The number 21 was chosen due to the cause of the disease - trisomy 21, and the month of March represents trisomy, since it is the third month of the year.

Causes of Down syndrome development

The causes of Down syndrome lie in the intrauterine formation of a chromosomal pathology of the fetus, characterized by the formation of additional copies of the genetically embedded material of the 21st chromosome, either the entire chromosome (trisomy), or sections of the chromosome (for example, due to translocation). Normal karyotype healthy person consists of 46 chromosomes, and in Down syndrome the karyotype is formed by 47 chromosomes.

The causes of Down syndrome are in no way related to conditions environment, parental behavior, taking any medications, etc. negative phenomena. These are random chromosomal events that, unfortunately, cannot be prevented or changed in the future.

Risk factors for developing Down syndrome

Age expectant mother influences the risk of developing Down syndrome in a child:

in the age range from 20 to 24 years, the probability of developing this pathology is 1 in 1562;
at the age of 25-35 years, this risk is already 1 in 1000;
at the age of 35-39 years the risk increases to 1 in 214;
Over the age of 45, the risk increases to 1 in 19.

As for the age of the future father, the risk of having children with this syndrome in men over 42 years of age has been scientifically proven.

Exists computer program"PRISCA", which takes into account ultrasound data, physical gynecological examinations and other factors and calculates the risk of congenital pathology of the fetus. To calculate the risk of Down syndrome, the risk of developing defects of the central nervous system (defect neural tube) is taken into account:

Mother's age
Smoking
Gestational age
Ethnicity
Body weight
Number of fruits
Diabetes disease
Availability of IVF

Is it possible to inherit Down syndrome?

Trisomy on chromosome 21 (which is approximately 90% of cases of the disease) is not inherited and is not transmitted hereditarily; the same applies to the mosaic form of pathology. The translocation form of the disease can be hereditary if one of the parents had a balanced chromosomal rearrangement (this means that part of a chromosome changes places with part of some other chromosome, without leading to pathological processes). When such a chromosome is passed on to the next generation, an excess of genes on chromosome 21 occurs, leading to the disease.

It is worth noting that children born to mothers suffering from Down syndrome are born with the same syndrome in 30-50% of cases.

How to find out about Down syndrome during pregnancy?

Since the causes of Down syndrome in the fetus are genetically determined, this pathology the child can be recognized even in the womb. If Down syndrome is suspected, signs during pregnancy are detected already in the first trimester.

Diagnosis of Down syndrome determines the risk of developing this pathology in the fetus. The study is carried out strictly during the period from 11 to 13 weeks and 6 days of pregnancy.

Determination of β-subunit level human chorionic gonadotropin(hormone pregnancy hCG) in the mother's venous blood. With this chromosomal pathology of the fetus, it will be determined increased levelβ-subunits of hCG more than 2 MoM;
Determination of the level of PAPP-A - protein-A in the blood plasma of a pregnant woman, associated with pregnancy. A high risk of the syndrome is associated with a PAPP-A value of less than 0.5 MoM;
Determination of the thickness of the nuchal translucency using fetal ultrasound. In Down syndrome, this figure exceeds 3 mm.

When the three described indicators are combined, the probability of Dyne syndrome in the fetus is 86%, i.e. diagnosis is quite accurate and indicative. To make a decision about continuing the pregnancy or terminating it, a woman who has signs of Down syndrome in the fetus is offered a transcervical amnioscopy.

In this study, chorionic villi are collected through the cervix, which are sent for genetic research, the results of which can confirm or refute this diagnosis with 100% certainty. The study is not mandatory; the decision to conduct it is made by parents. Since it is associated with a certain risk for the further course of pregnancy, many refuse such a diagnosis.

Diagnosis of Down syndrome in the second trimester is also a combined screening, which is carried out between 16 and 18 weeks.

Determination of the level of hCG in the blood of a pregnant woman - with Down syndrome, the indicator is above 2 MoM;
Determination of the level of a-fetoprotein in the blood of a pregnant woman (AFP) - for Down syndrome, the indicator is less than 0.5 MoM;
Determination of free estriol in the blood - a value of less than 0.5 MoM is characteristic of Down syndrome;
Determination of inhibin A in a woman’s blood - an indicator of more than 2 MoM is characteristic of Down syndrome;
Ultrasound of the fetus. If Down syndrome is present, ultrasound signs will be as follows:
- smaller fetal size relative to the norm for a period of 16-18 weeks;
- shortening or absence of the nasal bone in the fetus;
- reduction in the size of the upper jaw;
- shortening of the shoulders and femur in the fetus;
- increased bladder size;
- one artery in the umbilical cord instead of two;
- oligohydramnios or absence of amniotic fluid;
- increased heart rate in the fetus.

If all the signs are combined, the woman is offered invasive diagnostics to conduct a genetic study:

transabdominal aspiration of placental villi;
transabdominal cordocentesis with puncture of the umbilical cord vessels.

The selected material is examined in a genetic laboratory and makes it possible to accurately determine the presence or absence of this pathology in the fetus.

In 2012, British scientists developed a new highly accurate test for the presence of Down syndrome in the fetus, the result of which is estimated at 99%. It involves testing the blood of pregnant women and is suitable for absolutely all women. However, it has not yet been introduced into world practice.

How is the issue of termination of pregnancy decided when a high risk of Down syndrome is determined in the fetus?

When children are born with Down syndrome, the causes of the genetic failure that have occurred are truly impossible to establish. Many parents perceive this as a test and consider themselves endowed with a special function in raising and developing such a child. But every pregnant woman with a high risk of this pathology faces the question of deciding the fate of her pregnancy. The doctor does not have the right to insist on interruption, but he is obliged to clarify this issue and warn about all the likely consequences. Even if pathologies incompatible with life are discovered, no one has the right to persuade a woman to decide to do it), much less force her to do it.

Thus, the fate of a pregnancy with fetal pathology is decided only by the parents. Parents have the right to repeat the diagnosis in another laboratory and clinic, consult with several geneticists and other specialists.

Signs of Down syndrome in a newborn

Signs of Down syndrome in newborns are determined immediately after birth:

When children with Down syndrome are born, almost all of the external signs listed above will be detected. The diagnosis is confirmed after a genetic karyotype test.

Can a child with Down syndrome grow up to be a mentally and physically functional person?

This question certainly arises for those parents who are still deciding whether to terminate or continue the pregnancy, and for those who are already carrying a precious little bag with a newborn baby in their hands.

The consequences of forming an extra copy of a chromosome vary greatly and depend on the amount of excess genetic material, the genetic environment, and sometimes pure chance. Great value It has individual program the development of such a child and, of course, concomitant pathologies, of which there are many in such children.

Of course, these are not profoundly disabled people, but children who are capable of learning, developing and becoming adapted individuals in modern times. social environment. At the same time, it is important to understand that every child with Down syndrome will have varying degrees of mental, speech, and mental retardation. physical development. It is incorrect and unnecessary to put them on the same line as healthy children, but it is also impossible to consider them “abnormal people”.

A special phenotype makes this pathology recognizable. Indeed, it is impossible to hide such a feature of your child from prying eyes. But it’s better to accept your baby for who he is from the first breath, be proud of him and not hide him from people. Yes, these children are special, but they are far from hopeless. Mothers of children suffering from much more serious pathologies would give anything for the opportunity to change places with the mothers of Downyat, just so that the child could live and smile.

Down syndrome is a type of genetic disorder that delays physical growth as well as intellectual development.

A doctor from England, John Langdon Down, first described this pathology in 1866. He had a special interest in people with intellectual disabilities. Although he was the first to identify some of the distinctive characteristics of people with this anomaly, it was not until 1959 that Dr. Jerome Lejeune, who studied chromosomes, discovered the cause of the syndrome, extra chromosome 21.

Why are children born with Down syndrome?

All cells in the human body contain a nucleus, where genetic material is stored in genes. Genes carry the codes for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, in the nucleus of each cell there are 46 chromosomes arranged in 23 pairs. One chromosome of a pair is passed on from the father, and the other from the mother.

Down syndrome is a genetic disorder in which people have 47 chromosomes in their cells instead of 46. They have an extra chromosome 21.

Typically, in this disorder, a person inherits two chromosomes 21 from the mother (instead of one) and one chromosome 21 from the father, causing each cell to contain 3 copies of chromosome 21, not 2 (hence, this genetic abnormality is also known as trisomy 21). In this disorder, an extra copy of chromosome 21 leads to increased expression of genes located on it. The activity of these additional genes is thought to lead to many of the features that characterize Down syndrome.

Types of genetic changes

Three genetic variations can cause Down syndrome.

In approximately 92% of cases, Down syndrome is caused by the presence of an extra chromosome 21 in each cell.

In such cases, an additional chromosome arises during the development of either the egg or the sperm. Therefore, when an egg and sperm come together to form a fertilized egg, three rather than two chromosomes are present 21. As the embryo develops, an additional chromosome is repeated in each cell.

Robertsonian translocation and partial trisomy 21

In some people, parts of chromosome 21 merge with another chromosome (usually chromosome 14). This is called Robertson translocation. A person has a normal set of chromosomes, one of which contains extra genes from chromosome 21. A child inherits extra genetic material from chromosome 21 from his parent with the Robertson translocation and will have Downism. Robertsonian translocations occur in a small percentage of cases of the disorder.

It is extremely rare that very small fragments of chromosome 21 are included in other chromosomes. This phenomenon is known as partial trisomy 21.

Mosaic trisomy 21

Another small percentage of cases of the syndrome are mosaic. In the mosaic form, some cells in the body have 3 copies of chromosome 21, while the rest are unaffected. For example, a person may have skin cells with trisomy 21 while all other cell types are normal. Mosaic Down syndrome can sometimes go undetected because a person with this genetic variation will not necessarily have all the characteristic physical features and often has less impaired cognitive development than someone with full trisomy 21. This can lead to misdiagnosis.

Regardless of the genetic variation that causes the syndrome, people with the disorder have an extra critical part of chromosome 21 in some or all of their cells. The extra genetic material disrupts normal development, causing symptoms of trisomy 21.

Prevalence of Down syndrome

About 1 in 800 babies are born with trisomy 21. Every year, about 6,000 babies are born with this disorder.

There is no test that can be done before conception to determine whether an unborn newborn will have the syndrome. Any couple can have a baby with trisomy 21, but the risk increases as the pregnant woman ages. On the other hand, most children with chromosomal abnormalities are born to young women. This is determined by the fact that, compared to older women, younger women are more likely to give birth to children.

Large studies have been conducted to study the likelihood of having a child with trisomy 21 associated with maternal age. The following data was received:

for a woman aged 20, the risk of giving birth to a child with an anomaly is 1 in 1500;
for a 30-year-old – 1 in 800;
in a woman aged 35, the probability increases to 1 in 270;
at 40 years old - probability 1 in 100;
a 45-year-old woman has a 1 in 50 chance or more.

The risk of conceiving a child with a chromosomal abnormality is actually greater than these figures. This is determined by the fact that approximately 3/4 of embryos or developing fruits with a genetic disorder will never reach full development and will therefore have a miscarriage.

It was found that from 1989 to 2008, cases of detection of trisomy 21 in the prenatal and postnatal periods increased, despite a small difference in the birth rate. But the number of children born with the genetic disorder has fallen slightly due to improvements and wider use of prenatal screening. It has led to an increase in the frequency of detection of the disorder during pregnancy and, as a result, its termination. Without this improved screening, as women tend to have children at older ages, it is believed that the number of live newborns with the genetic abnormality would otherwise nearly double.

If a woman previously had a child with this pathology, then the risk increases by 1% that the second baby will also suffer from this chromosomal abnormality.

Clinical manifestations

Although not all people with this disorder have the same physical characteristics, there are some characteristics that commonly occur with this genetic disorder. This is why patients with trisomy 21 have a similar appearance.

Three characteristics that occur in every individual with Down syndrome:

epicanthous folds (extra skin of the inner eyelid that gives the eyes an almond shape);
Mongoloid eye shape;
brachycephaly (head with a large transverse diameter);

Other characteristics that people with this genetic disorder have (but not everyone):

include light spots in the eyes (Brushfield spots);
small, slightly flat nose;
small open mouth with protruding tongue;
low-set small ears that can be folded;
abnormally formed teeth;
narrow palate;
tongue with deep cracks;
short arms and legs;
not tall in comparison with healthy children of the same age;
small feet with an increased gap between the big and second toes.

None of these physical features are abnormal in themselves, and they do not cause serious problems or cause any pathology. However, if a doctor sees these manifestations together, he or she will likely suspect that the child has Down syndrome.

Common pathologies in Down syndrome

In addition to the features appearance There is an increased risk of a number of medical problems:

Hypotension

Almost all affected babies have poor muscle tone (hypotonia), which means their muscles are weak and appear somewhat floppy. With this pathology, it will be difficult for a child to learn to roll, sit, stand and speak. In newborns, hypotension can also cause feeding problems.

As a result of hypotension, many children have delayed development of motor skills and may develop orthopedic problems. There is no cure, but physical therapy can help improve muscle tone.

Visual impairment

Vision problems are common with the syndrome and are likely to increase with age. Examples of such vision disorders are myopia, farsightedness, strabismus, and nystagmus (involuntary eye movements with high frequency).

Children with trisomy 21 should have their eyes examined as early as possible because the problems listed above can be corrected.

Heart defects

About 50 percent of babies are born with heart abnormalities.

Some of these heart defects are mild and can correct themselves without medical intervention. Other heart abnormalities are more severe and require surgery or medication.

Hearing loss

Hearing problems with Down syndrome are not uncommon. Otitis media affects approximately 50 to 70 percent of children and is common cause hearing loss. Deafness, present at birth, occurs in about 15 percent of children with this genetic disorder.

Gastrointestinal disorders

About 5 percent of affected infants will have gastrointestinal problems, such as narrowed or blocked intestines or anal occlusion. Most of these pathologies can be eliminated with surgery.

Absence of nerves in the large intestine (Hirschsprung disease) is more common in individuals with the syndrome than in the general population, but is still quite rare. There is also a strong association between and trisomy 21, which means it is more common in people with this disorder than in healthy individuals.

Endocrine abnormalities

Down syndrome often develops hypothyroidism (insufficient production of thyroid hormones). It can be congenital or acquired, secondary to Hashimoto's thyroiditis (an autoimmune disease).

Hashimoto's thyroiditis, which causes hypothyroidism, is the most common thyroid disease in affected patients. The disease usually begins to develop from school age. Rarely, Hashimoto's thyroiditis leads to hyperthyroidism (overproduction of hormones).

Individuals with the syndrome have an increased risk of developing type I.

Leukemia

Very rarely, in about 1 percent of cases, an individual may develop leukemia. Leukemia is a type of cancer that affects blood cells in the bone marrow. Symptoms of leukemia include easy bruising, fatigue, a pale complexion and unexplained fevers. Although leukemia is a very serious disease, the survival rate is high. It is usually treated with chemotherapy, radiation, or a bone marrow transplant.

Intellectual problems

All persons with the syndrome have certain degree mental disability. Children tend to learn more slowly and have difficulty with complex reasoning and judgment. It is impossible to predict what level of mental retardation those born with the genetic disorder will have, although this will become clearer with age.

The IQ range for normal intelligence is 70 to 130. A person is considered to have a mild intellectual disability when their IQ is between 55 and 70. A moderately mentally retarded person has an IQ between 40 and 55. Most affected people have an IQ score of 40 to 55. IQ ranges from mild to moderate intellectual disability.

Despite their IQ, people with the syndrome can learn and develop throughout their lives. This potential can be maximized through early intervention, quality education, encouragement, and high expectations.

Features of behavior and psychiatric status

In general, they are characterized by natural spontaneity, true kindness, cheerfulness, gentleness, patience and tolerance. Some patients exhibit restlessness and stubbornness.

Most affected children do not have underlying psychiatric or behavioral disorders. Up to 38% of children may have related mental disorders. These include:

attention deficit hyperactivity disorder;
oppositional defiant disorder;
autism spectrum disorders;
obsessive-compulsive disorder;
depression.

Down syndrome is usually suspected after the birth of a child based on a set of unique characteristics. However, to confirm the diagnosis, a karyotype analysis (chromosome study) is performed. This test involves taking a blood sample from the child to look at the chromosomes in the cells. Karyotyping is important to determine the risk of recurrence. In cases of Down syndrome translocation, proper genetic counseling requires karyotyping of parents and other relatives.

There are tests that doctors can perform before the baby is born:

Screening tests

Screening tests determine the likelihood of a fetus having Down syndrome or other conditions, but they do not definitively diagnose a genetic disorder.

Various types of research include:

blood tests that are used to measure protein and hormone levels in a pregnant woman. Abnormally increased or decreased levels may indicate a genetic disorder;
Ultrasound can identify congenital heart defects and other structural changes, such as extra skin at the base of the neck, that may indicate the presence of the syndrome.

A combination of blood test results and ultrasound are used to assess the likelihood that the fetus has Down syndrome.

If there is a high chance on these screening tests, or if there is a higher chance due to maternal age, newer noninvasive tests may report a very high (>99%) or very low (<1%) вероятности, что у плода есть синдром Дауна. Однако эти тесты не являются диагностическими.

Diagnostic tests

When screening tests show a high likelihood of the fetus having a genetic disorder, additional diagnostic tests are performed. They can determine whether a fetus has Down syndrome with almost 100 percent accuracy. However, because these tests require the use of a needle to obtain a sample from inside the uterus, they carry a small increased risk of miscarriage and other complications.

Various types of diagnostic testing include:

Chorionic villus sampling, in which a small sample of the placenta is taken for specific genetic testing. Chorionic villus sampling is used to detect any condition that is associated with certain chromosomal abnormalities. This test is usually performed during the first trimester between 10 and 14 weeks of pregnancy.
Amniocentesis, a prenatal diagnostic method in which a needle is inserted into the amniotic sac that surrounds the baby. Amniocentesis is most often used to detect Down syndrome and other chromosomal abnormalities. This test is usually performed in the second trimester after 15 weeks.

Because it is a chromosomal disorder, there is no cure for Down syndrome. Therefore, treatment for the condition focuses on controlling symptoms, intellectual problems, and any medical conditions that occur throughout people's lives.

Treatment may include:

using medications to treat common disorders such as hypothyroidism;
surgery to correct a heart defect or intestinal blockage;
selection of glasses and/or hearing aids, as poor vision and hearing loss are possible.

Most children require physical therapy to improve muscle tone, as hypotonia present will inhibit the development of motor skills. And early intervention, starting in infancy, is critical to helping children reach their full intellectual potential so they can be as independent as possible when they reach adulthood.

Surgery

Surgery for heart defects

Certain birth defects occur in children with the syndrome. One of them is an atrioventricular septal defect, in which a hole in the heart prevents normal blood flow. This defect is corrected with surgery, namely repairing the hole and, if necessary, repairing any valves in the heart that may not close completely.

People born with this defect need to be seen by a cardiologist throughout their lives.

Surgery for gastrointestinal diseases

Some babies are born with a deformation of the duodenum called duodenal atresia. The defect requires surgery to repair, but is not considered an emergency unless there are other more pressing medical problems.

Early Intervention System

The sooner children with Down syndrome receive the personalized care and attention they need to address their specific health and developmental challenges, the more likely they are to reach their full potential.

Early intervention is a program of therapy, exercises and activities designed to correct developmental delays that children with Down syndrome or other disorders may experience.

A variety of treatment modalities can be used in early intervention programs throughout a person's life to promote maximum possible development, independence, and productivity. Some of these treatments are listed below.

Physical therapy includes activities and exercises that help build motor skills, increase muscle strength, and improve posture and balance.

Physical therapy is especially important in early childhood because physical abilities underlie other skills. Learning to roll over, crawl, and stand up helps babies learn about the world around them and how to interact with it.

A physical therapist will also help your child compensate for physical problems, such as low muscle tone, so that long-term problems are avoided. For example, a physical therapist can help a child create an effective walking pattern rather than one that leads to leg pain.

Speech therapy can help children with Down syndrome improve their communication skills and use language more effectively.

Children with trisomy often learn to speak later than their peers. The speech therapist will help them develop early skills needed for communication, such as imitating sounds.

In many cases, affected children understand language and want to communicate before they can speak. The speech therapist will show your child ways to use alternative means of communication until he or she learns to speak.

Learning to communicate is an ongoing process, so a person with the syndrome may also benefit from speech and language therapy at school and later in life. The specialist should help develop conversation skills, pronunciation, reading comprehension, as well as facilitate the learning and memorization of words.

Preparing for the workforce involves learning to find ways to adapt everyday tasks and environments to suit a person's needs and abilities.

This type of therapy teaches self-care skills such as eating, dressing, writing, and computer use.

The specialist may suggest special tools to help improve daily functioning, such as a pencil that is easier to grip.

At the high school level, a specialist helps teenagers identify a career or activity that matches their interests and strengths.

Immunization

Proper immunization is extremely important because structural abnormalities make children with the syndrome more susceptible to upper respiratory, ear, nose and throat infections. All affected children should receive the standard recommended series of vaccines: DTP, polio, Haemophilus influenzae, and mumps.

The hepatitis B vaccine series should begin at birth.

Annual influenza vaccination has been proposed as another means of reducing incidence.

Features of infant feeding

A baby with Down syndrome can be breastfed. , are generally easier to digest than mixtures of all types. In addition, affected breastfed children suffer less from diseases of the respiratory system, as well as a lower incidence of otitis media and respiratory allergies. also promotes motor development of the oral cavity, which is the basis of speech.

Suckling problems associated with hypotension or heart defects can make breastfeeding difficult, especially in premature babies. In this situation, you can feed the baby expressed milk through a bottle. The baby's ability to suck often improves after a few weeks.

If the baby does not gain enough weight while breastfeeding, formula should be partially added.

Many babies with Down syndrome tend to be "sleepy babies" in the first weeks. Consequently, feeding only on demand may be ineffective both in terms of calories and in meeting the child’s needs for vitamins and elements. In this situation, the infant should be awakened for feeding at least every three to two hours if breastfeeding alone is used.

When feeding formula, it is also necessary to wake the baby at least every three hours to ensure adequate intake of calories and elements.

If weight gain is not a problem, or the infant with Down syndrome has a specific current medical condition, no specific formula is recommended.

The infant's diet should be expanded according to the usual schedule. However, deferment may delay the introduction of solid foods. Parents should remember that it takes a lot of patience to teach a child to eat with a spoon and drink from a cup.

Conclusion

In recent decades, people with this chromosomal abnormality have significantly increased their life expectancy. Back in 1960, a child with a genetic disorder often did not live past the age of ten. Now the expected life expectancy for such people reaches 50 - 60 years.

There is no cure for Down syndrome, but even with this condition, your child can still be happy as long as you provide the necessary love, care and treatment.

With Down syndrome, instead of the normal 46 chromosomes, like all healthy people, a child has one more chromosome - 47 chromosomes. Due to the extra chromosome 21, Down syndrome is also called trisomy 21.

When can a child get sick?

Down syndrome is a disease that develops in a child during conception or in the first days after conception. A child cannot develop Down syndrome after birth. That is why it is possible to identify Down syndrome in a child during pregnancy.

How common is Down syndrome?

Down syndrome is the most common chromosomal disorder (a disorder in which the number of chromosomes is abnormal). The second most common chromosomal disease is.

The incidence of Down syndrome is approximately 1 case in 600-800 births.

Who can have a child with Down syndrome?

Any woman can have a child with Down syndrome, even if she and her partner are completely healthy, and there has never been such a disease in the family. And yet, there is a major risk factor that increases the likelihood of having a child with Down syndrome: the age of the expectant mother.

The risk of having a child with Down syndrome increases with the age of the pregnant woman:

At age 20, the risk is approximately 1 in 1,600 (that is, out of 1,600 pregnant women, 1 will have a child with Down syndrome)
At 25 years old: 1 in 1300
At 30 years old: 1 in 1000
At 40 years old: 1 in 365
At 45 years old: 1 in 30

The age of the child's father does not affect the risk of Down syndrome. This is explained simply. In women, eggs are present in the ovaries from the moment of birth, which means that during life all harmful factors (radiation, contact with harmful chemicals, smoking, etc.) “accumulate” in them. In men, sperm are renewed every 72 days, so they do not are at risk of accumulation of all harmful factors.

How does Down syndrome manifest in a child?

The main characteristic features of Down syndrome are dementia and some physical defects (for example, a characteristic appearance). Some children may have concomitant diseases of internal organs, for example, heart defects, hearing loss, underdevelopment of the kidneys, defects of the digestive system, defects in the development of the skeletal system and others.

Dementia with Down syndrome varies greatly from minimal, when the child is able to study in a special school and even acquire a simple profession, to severe dementia, when the child is practically incapable of learning.

In developed countries, children with Down syndrome are not social outcasts, and parents affectionately call such children special. The attitude of his parents towards the disease has a huge impact on the development of a special child. With proper upbringing, care and work with a child, you can achieve very good results.

Approximately 25-30% of children with Down syndrome die in the first year of life. However, on average, people with Down syndrome live 49 years, and some reach 60 years of age.

How to find out if a child has Down syndrome before he is born?

In order for future parents to know what to expect after the birth of a child, a series of examinations are carried out during pregnancy to identify Down syndrome in the unborn child. These tests are called screening for Down syndrome

Can a child with Down syndrome be born to relatively healthy parents who, according to all the rules, planned the pregnancy in advance? Doctors say that this is purely a genetic accident. The reasons for the birth of children with Down syndrome could only be identified from the statistics of such cases in medical practice, the theoretical analysis of genetic scientists and the history of genetic examinations of “sunny” children. Why are children born with Down syndrome? When can an anomaly be detected? Are there ways to prevent the syndrome?

Why are children born with Down syndrome?

From a physiological point of view, pathology appears during cell division after conception. The egg begins to actively divide, not yet moving through the fallopian tubes. By the time it attaches to the uterine cavity (the so-called implantation), it already becomes an embryo. If a child has Down syndrome, it will be clear almost immediately after conception, but it is still impossible to diagnose a genetic pathology so early.

“Sunny” children appear because one extra chromosome appears in the genetic material of the mother or father. In most cases (90%), the embryo receives chromosome 24 from the mother, but it happens (10%) from the father. In some cases (almost 6%), the pathology is associated with the presence not of a whole extra chromosome, but only of its fragments.

This is exactly how doctors answer the question of why children are born with Down syndrome. The causes and factors that provoke genetic pathology can be different, and the process described above is only from a physiological point of view.

What can “sun” disease be?

There are several forms of Down syndrome. Trisomy is the most common case. Trisomy is a pathology in which one of the parents' germ cells contains an extra 24th chromosome (normally, a child receives 23 chromosomes from the father and the same from the mother). Merging into a second cell, the egg or sperm forms a gamete with 47 chromosomes together with 46.

There is a so-called “family” syndrome. In this case, the birth of a “special” child is due to the fact that in the karyotype of one of the parents there is a so-called Robertsonian translocation. This is what doctors call the long arm of chromosome 21, which in the process of joining and dividing cells becomes the cause of trisomy.

The mildest form of “solar” disease is mosaicism. Genetic pathology develops in the embryonic period due to nondisjunction of chromosomes during cell division. In this case, the disorder occurs only in individual organs or tissues, while with trisomy, the anomaly is carried by all cells of the little person’s body.

How does maternal age affect the risk of having a child with Down syndrome?

Why are children born with Down syndrome? Doctors have several opinions on this matter. The most common reason is the age of the expectant mother. The older the mother, the greater the risk of having a baby with any anomalies. At the age of twenty-five, the probability of conceiving a defective baby is less than one tenth of a percent, and by the age of 40 it reaches five percent. According to medical statistics, 49-year-old mothers give birth to one child with Down syndrome in twelve cases.

In reality, the majority (almost 80%) of “sunny” children are born to young mothers under the age of 30. This is because older women tend to give birth less often. So, the reasons for the appearance of children with Down syndrome in these cases are different.

What about the father's age?

For men, the risk of conceiving a special child increases only after 42-45 years. As a rule, this is associated with an age-related decrease in sperm quality. The likelihood of conceiving a “sunny” baby is also influenced by genetic abnormalities in the cells of both the father and mother. Some of them are not a congenital phenomenon, but an age-related change. Sometimes there are cases when there are forty-five chromosomes in the cells of spouses - then the risk of pathology increases.

What genetic causes are risk factors?

The risk of having a child with Down syndrome is higher if the parents' cells contain similar genetic information. Often, “sunny” children are born from closely related relationships, but occasionally it happens that similar material is contained in the cells of parents who are in no way related by blood.

The birth of a child with Down syndrome is also possible if there are genetic diseases, unfavorable heredity and predisposition in the pedigree. There is a risk if the mother has diabetes, epilepsy, or has an unfavorable history: there have been miscarriages in previous pregnancies, stillbirths, or the death of a child in infancy.

Does lifestyle affect the risk of having a “sunny” child?

Why can a child be born with Down syndrome? Doctors say that the lifestyle of future parents does not affect this in any way. However, another indication of a more attentive attitude towards the expectant mother at the first screening will be the fact of long-term work in hazardous production. Unfortunately, it is rarely possible to find out exactly what caused the conception of a “sunny” baby, so it will not be possible to provide statistics here.

In addition, in some cases, children with Down syndrome (we study the causes of pathology throughout the entire article) are born due to abnormalities in the development of pregnancy. True, this can most likely be attributed to genetic reasons.

What is folate cycle disorder?

Most likely, it is a violation of the folate cycle that causes the birth of children with Down syndrome in young and relatively healthy mothers. What is meant by this phrase, why are children born with Down syndrome? The reasons may be disturbances in the absorption of folic acid (also known as vitamin B9).

Doctors always prescribe folic acid for both those who are already pregnant and those who are just planning a pregnancy. B9 is not prescribed in vain - a deficiency of the element can cause not only Down syndrome, in which chromosomes do not separate, but also other pathologies of embryonic development.

Why is vitamin B9 not absorbed? Three genes are responsible for this, which are also called folate cycle genes. Sometimes they “do not work at full capacity” and instead of 100%, the body absorbs at best 30% of folic acid. Women who do not fully absorb the vitamin should take folic acid in increased dosages and eat foods enriched with B9 more often. You can find out if there are folate cycle disorders by doing a genetic test.

A lack of vitamin B9 can cause digestive problems that interfere with the absorption of nutrients.

Have you done any more research?

The above are the reasons why children with Down syndrome are born. But medicine does not stand still. Recent research allows us to identify two more factors that could theoretically influence the likelihood of having “sunny” children.

Indian scientists have found that not only the age of the mother herself, but also the age of the maternal grandmother can become a risk factor. The older the grandmother was when she gave birth to her daughter, the higher the likelihood that she would give birth to a grandson or granddaughter with Down syndrome. The risk increases by 30% with each “lost” year after the age of 30-35.

Another assumption made by scientists after recent research into the issue suggests that the occurrence of pathology may be influenced by increased solar activity. Thus, according to the observations of medical scientists and geneticists, the conception of such children often occurred after a surge in solar activity.

What do psychologists and esotericists say about the reasons for the birth of “sunny” children?

Why are children born with Down syndrome? Parapsychologists answer this question by referring to karmic debts. They say that in every family there must appear the person who is destined. And if the parents were really expecting a boy, and a girl appears, then it is likely that she will subsequently have a baby with Down syndrome. If, as an adult, a woman decides to have an abortion when it turns out that there is a genetic anomaly, then the unhealthy karma will be passed on to other children who will be born in this family.

By the way, according to an ancient legend, which is confirmed by modern esotericists, “solar” children are the reborn souls of sages and healers, who in a past life were distinguished by pride. For this they were placed in a shell that makes other people wary, but in return they were endowed with a deep understanding of the world.

How is a genetic disease diagnosed?

Today, early diagnosis of pathology is available. In the early stages of pregnancy, ultrasound diagnostics and biochemical screening are used. The material for research is the membrane of the embryo or amniotic fluid. The latter method is quite risky; there is a possibility of damage to the placenta (with all the negative consequences) or spontaneous termination of pregnancy. That is why amniotic fluid analysis and biopsy are carried out exclusively when indicated.

After birth, diagnosing pathology is not difficult. How are children with Down syndrome born? Such babies weigh less than usual, their eye shape is Mongoloid, the bridge of their nose is too flat, and their mouth is almost always slightly open. Often “sunny” children have a number of concomitant diseases, but these are not always mental disorders.

What do parents do when they find out that their child has a genetic disease?

Down syndrome can be diagnosed in the early stages of pregnancy, when termination is possible with virtually no harm to the health of the expectant mother. This is exactly what women in Russia most often do. Still, raising a “sunny” child requires a lot of effort, peace of mind, time and money. Such babies need much more parental attention and care, so women who are diagnosed with a genetic abnormality of the fetus cannot be condemned.

More than 90% of women terminated their pregnancies when it was discovered that the fetus had Down syndrome. About 84% of newborns with this genetic disease are abandoned by their parents in maternity hospitals. In most cases, medical personnel only support this.

What about other countries?

European mothers had an abortion in 93% of cases if doctors diagnosed a genetic pathology (2002 data). The majority of families (85%) in which a “sunny” baby appears, abandon the child. What is significant is that in Scandinavian countries there is not a single case of abandonment of such children, and in the United States more than two hundred and fifty married couples are in line to adopt them.

Who leaves behind a special child?

Of course, some families keep the child. There are known children of celebrities with Down syndrome. The special baby is being raised by Evelina Bledans, coach of the Spanish football team Vicente del Bosque, Lolita Milyavskaya (at first doctors diagnosed Down syndrome, but then changed the diagnosis to autism), daughter of the first Russian president Tatyana Yumasheva.

“Sunny” babies develop more slowly than their peers. They are shorter, retarded in physical development, often have poor vision and hearing, are overweight, and often have congenital heart defects. There is an opinion that children with pathology are not capable of learning, but this is not true. If you regularly work with such a baby and pay attention to him, he will be able to take care of himself and even perform more complex actions.

How are children with the syndrome treated and adapted to society?

It is impossible to completely cure a genetic anomaly, but regular medical observation and systematic classes in special programs will help a “sunny” baby acquire basic self-care skills and even subsequently get a profession, and then start his own family.

Classes with disabled children can be carried out both at home and in special rehabilitation centers, in kindergartens and schools. It is necessary to instill in the child self-service skills, teach writing and counting, develop memory and perception, and adapt socially. Speech therapy massage, breathing exercises, exercises for the development of motor skills, educational games, physiotherapy, and animal-assisted therapy are useful for “sunny” children. It is also necessary to treat concomitant pathologies.

Are there methods to prevent Down syndrome?

To prevent the risk of developing Down's disease, it is necessary to undergo examination by medical specialists even when planning pregnancy. It is advisable to do a genetic test to determine whether there are disturbances in the absorption of folic acid; visit a gastroenterologist if there is a suspicion of insufficient absorption of vitamins and nutrients.

It is worth starting to take vitamin B9 and multivitamins for pregnant women in advance. It is advisable to diversify your diet, saturating it with all the necessary nutrients. During late pregnancy, you need to undergo regular medical examinations and be more attentive to your new condition.

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