Symptoms of Down's disease in children. What is Down syndrome? Strengths of children with Down syndrome

Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. This disorder is typically associated with delayed physical growth, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, which is equivalent to mental age 8 or 9 years, but can vary widely.

The parents of a child with Down syndrome are usually genetically normal. The extra chromosome is just a consequence of chance. There is no known method that would somehow influence the risk of having such a child. Down syndrome can be identified during pregnancy through prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing. Since the invention of screening, diagnosed pregnancies are often terminated. Regular screening for health problems common in Down syndrome is recommended throughout a person's life. There is no cure for Down syndrome. It has been shown that education and proper care can improve quality of life. Some children with Down syndrome are educated in regular school classes, while others require more special education. Some people with Down syndrome end up high school, and some continue to study after school. In the United States, about 20% of adults with Down syndrome have paid employment, Szabo, Liz (May 9, 2013). "Life with Down syndrome is full of possibilities." USA Today. Retrieved 7 February 2014._] however, many require a secure work environment. Such people often need support in financial and legal matters. The average life expectancy of patients is 50 to 60 years in developed countries of the world with proper medical care. Down syndrome is one of the most common chromosomal abnormalities in humans. The anomaly occurs in approximately one case per 1,000 infants annually. In 2013, 8.5 million people had Down syndrome, resulting in 36,000 deaths, up from 43,000 deaths in 1990. The syndrome was named after John Langdon Down, the British physician who fully described the syndrome in 1866. Some aspects of the condition were described previously by Esquirol in 1838 and Edouard Séguin in 1844. Genetic cause Down syndrome is an extra copy of chromosome 21, which was identified by French researchers in 1959.

Signs and symptoms

Individuals with Down syndrome almost always have physical and mental disabilities. As with adults, their mental abilities tend to be similar to those of 8- or 9-year-old children. Additionally, they tend to have poor immune function and usually reach stages of mental and physical development at a later age. They have an increased risk of developing a range of other health problems, including congenital heart disease, epilepsy, leukemia, diseases thyroid gland, as well as mental disorders.

Physical signs

People with Down syndrome may have some or all of the following physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat bridge of the nose, a single transverse palmar crease, and a protruding tongue due to a small mouth and relatively large tongue. These changes in respiratory tract lead to obstructive sleep apnea in approximately half of patients with Down syndrome. Other common signs include: flat and wide face, short neck, excessive joint flexibility, extra space between thumb and second toe, abnormal patterns on the tips of the toes and short toes. Instability of the atlantoaxial joint occurs in approximately 20% of cases and can lead to injury spinal cord in 1-2% of cases. Hip dislocations can occur without injury in up to a third of people with Down syndrome. Height growth is slower in DS, resulting in adults who tend to be short, with an average height of 154 cm (5 ft 1 in) for men and 142 cm (4 ft 8 in) for women. Individuals with Down syndrome are at increased risk of developing obesity as they age. Growth charts have been developed specifically for children with Down syndrome.

Neurology

Most people with Down syndrome have moderate (IQ: 50-70) or moderate (IQ: 35-50) intellectual disabilities. In some cases, severe abnormalities may be observed (IQ: 20-35). People with Down syndrome with genetic mosaicism tend to have an IQ 10 to 30 points higher. As they age, people with Down syndrome tend to perform worse than their normal peers. After 30 years, some patients lose the ability to speak. This syndrome causes about a third of cases of mental retardation. Many developmental stages are delayed. Children with DS usually begin crawling around 8 months rather than 5 months, and walking on their own usually around 21 months rather than 14 months. Typically, people with Down syndrome have a deeper understanding of language than they can convey in words. In 10-45% of patients, speech is choppy or fast and irregular, making it difficult to understand. Typically, people with diabetes have fairly good social skills. Behavior problems are usually not as severe as with other syndromes associated with mental retardation. In children with Down syndrome, mental illness occurs in almost 30% of cases, and autism occurs in 5-10% of cases. People with Down syndrome may experience wide range emotions. Although people with Down syndrome are generally happy, symptoms of depression and anxiety may develop in early adulthood. Children and adults with Down syndrome have an increased risk of epileptic seizures, which occur in 5-10% of children and up to 50% of adults. This includes an increased risk of a certain type of seizure called "infantile spasms." Many people (15%) who live 40 years or longer develop Alzheimer's disease. 50-70% of people with diabetes who reach 60 years of age develop Alzheimer's disease.

Sense organs

Hearing and vision impairment occurs in more than half of people with Down syndrome. Vision problems occur in 38 to 80% of cases. 20-50% of patients develop strabismus, where both eyes do not move together. Cataracts (clouding of the lens of the eye) occur in 15% of cases and may be present at birth. Keratoconus (thin, cone-shaped cornea) and glaucoma (increased intraocular pressure) are also more common, as are refractive errors requiring glasses or contact lenses. Brushfield spots (small white or greyish/brown spots on the outer part of the iris) are present in 38-85% of cases. Hearing problems are found in 50-90% of children with Down syndrome. It is often the result of otitis media with effusion, which occurs in 50-70% of cases, and chronic ear infections, which occur in 40-60% of cases. Ear infections often begin in the first year of life, and are due in part to poor eustachian tube function. Excessive quantity earwax may also lead to hearing loss due to external hearing obstruction ear canal. Even mild hearing loss can have negative effects on speech, language comprehension, and learning. In addition, it is important to exclude the risk of hearing loss as a factor in socio-cognitive impairment. Age-related sensorineural hearing loss occurs at a much higher rate early age and affects 10-70% of people with Down syndrome.

Heart

The incidence of congenital heart defects in newborns with Down syndrome is about 40%. Among people with heart disease, about 80% have an atrioventricular defect interatrial septum or ventricular septal defect, with the former being more common. Problems with mitral valve become common with age, even in the absence of heart problems at birth. Other problems that may occur in people with diabetes include tetralogy of Fallot and cleft fusion ductus arteriosus. People with Down syndrome have a lower risk of hardening of the arteries.

Cancer

Although total risk The development of cancer in diabetes does not change, the risk of leukemia and testicular cancer increases and the risk of solid cancers decreases. Solid cancers are thought to be less common due to increased expression of tumor suppressor genes present on chromosome 21. Blood cancers are 10 to 15 times more common in children with Down syndrome. In particular, acute lymphoblastic leukemia is 20 times more common, and megakaryoblastic acute myeloid leukemia is 500 times more common. Transitional myeloproliferative disorder, a disorder of blood cell production that does not occur in the absence of Down syndrome, affects 3-10% of infants. The disease is usually not serious, but can sometimes be serious. In most cases, the person recovers without treatment; however, among patients who have had this disease, there is a 20-30% risk of developing acute lymphoblastic leukemia.

Endocrine system

Thyroid problems occur in 20-50% of patients with Down syndrome. Thyroid hormone deficiency is the most common form, occurring in almost half of all people. Thyroid problems may be due to a poorly functioning or non-functioning thyroid gland at birth (known as congenital hypothyroidism), which occurs in 1% of cases, or may develop later due to an attack of the thyroid gland immune systems oh the body, which leads to Graves' disease or autoimmune hypothyroidism. Type 1 diabetes is also common.

Gastrointestinal tract

Constipation affects almost half of people with Down syndrome, which can lead to behavioral changes. One of possible reasons is Hirschsprung's disease, observed in 2-15% of cases, which is associated with the absence of nerve cells that control the colon. Other common congenital problems include duodenal atresia, pyloric stenosis, Meckel's diverticulum, and imperforate anus. Celiac disease affects about 7-20% of patients with diabetes. Gastroesophageal reflux disease is also more common.

Teeth

People with Down syndrome are more susceptible to gingivitis, as well as early development severe periodontal disease, necrotizing ulcerative gingivitis and early tooth loss, especially the lower front teeth. While plaque and poor oral hygiene are contributing factors, the severity of these periodontal diseases cannot be explained solely external factors. Research suggests that severity is likely the result of a weakened immune system. A weakened immune system also increases the development of yeast infections in the mouth (Candida Albicans). Individuals with Down syndrome also tend to have more alkaline saliva, which results in greater resistance to tooth decay despite reduced saliva production, less effective oral hygiene, and higher rates of plaque formation. Higher rates of tooth wear and bruxism are also common in people with diabetes. Other common manifestations of Down syndrome in oral cavity include an enlarged hypotonic tongue, lip crusting and hypotonic lips, mouth breathing, narrow palate with crowded teeth, class III malocclusion with underdeveloped jaw and posterior bite, delayed loss of primary teeth and delayed eruption of adult teeth, short roots on teeth, and often - missing or improperly formed teeth. Less common manifestations include cleft lip and palate and enamel calcium deficiency (prevalence 20%).

Fertility

Men with Down syndrome are usually unable to conceive children, while women have more low performance birth rate compared to healthy women. Currently, approximately 30-50% of women with diabetes give birth to offspring. Menopause in women with diabetes usually occurs at an earlier age. Poor fertility in men with diabetes is thought to be due to problems with sperm development. However, it can also be associated with a lack of sexual activity. As of 2006, there have been three reported paternities of men with Down syndrome and 26 paternities of women with Down syndrome. Without assisted reproductive technology, about half of children born to a parent with Down syndrome will also have the syndrome.

Genetics

Down syndrome is caused by having three copies of genes on chromosome 21, as opposed to the usual two. The parents of a child with diabetes are usually genetically normal. Parents who have one child with Down syndrome have approximately a 1% risk of having a second child with the syndrome if both parents have normal karyotypes. Extra chromosomes can arise in several ways. The most common cause (about 92-95% of cases) is a complete extra copy of chromosome 21, resulting in trisomy 21. In 1.0 to 2.5% of cases, some of the cells in the body are normal while others have trisomy 21 , known as Down syndrome with mosaicism. Other common mechanisms that may cause Down syndrome include: Robertsonian translocation, isochromosome, or ring chromosome. They contain extra material from chromosome 21 and occur in approximately 2.5% of cases. An isochromosome is observed when the two long arms of a chromosome, rather than a long and short arm, separate during meiosis.

Trisomy 21

Trisomy 21 (also known as karyotype 47,XX,+21 for women and 47,XY,+21 for men) is caused by the failure of chromosome 21 to divide during meiosis. As a result, sperm cells or eggs are produced with an extra copy of chromosome 21; thus, this cell has 24 chromosomes. When combined with a normal cell from the other parent, the child has 47 chromosomes, with three copies of chromosome 21. About 88% of trisomy 21 cases result from a chromosome division in the mother, 8% from a division in the father, and 3% after the egg and sperm merged.

Translocation

Additional material for chromosome 21 may also be associated with a Robertsonian translocation in 2-4% of cases. In this situation, long arm Chromosome 21 attaches to another chromosome, often chromosome 14. In males with Down syndrome, this results in a karyotype of 46XY,t (14q21q). This may be a new mutation or previously present in one of the parents. The parent with this translocation is usually normal physically and mentally; however, when sperm or egg cells are produced, there is a higher chance of creating reproductive cells with an extra chromosome 21. This results in a 15% chance of having a child with Down syndrome when it affects the mother and less than a 5% chance if it affects the father. The likelihood of this type of Down syndrome is not related to the age of the mother. Some children without Down syndrome may inherit the translocation and are more likely to have their own children born with Down syndrome. In this case, they sometimes talk about familial Down syndrome.

Mechanism

The additional genetic material present in DS leads to overexpression of a portion of the 310 genes located on chromosome 21. This overexpression has been estimated to be around 50%. Some studies have suggested that the critical region for Down syndrome is at bands 21q22.1-q22.3, and this region includes the genes for amyloid, superoxide dismutase, and probably the ETS2 proto-oncogene. Other studies, however, have not confirmed these data. MicroRNAs may also be involved in this process. The dementia that occurs in Down syndrome is due to an excess of beta-amyloid peptide produced in the brain, similar to Alzheimer's disease. This peptide is made from the amyloid precursor protein gene, which is located on chromosome 21. Senile plaques and neurofibrillary tangles are present in almost all people with diabetes by age 35, although dementia may not be present. Persons with diabetes who also do not have normal amount lymphocytes and produce fewer antibodies, are at increased risk of infection.

Dynamics of development

Down syndrome is associated with increased risk development of many chronic diseases diseases that are usually associated with older age, such as Alzheimer's disease. Accelerated aging suggests that trisomy 21 increases biological age tissues, but molecular evidence for this hypothesis is incomplete. According to a tissue age biomarker known as the epigenetic clock, trisomy 21 increases the age of blood and brain tissue (by an average of 6.6 years).

Screening

The guideline recommends screening for Down syndrome be offered to all pregnant women, regardless of age. The screening procedure includes a series of tests varying degrees accuracy. They are typically used in combination to increase detection accuracy. No single test can be considered definitive, so if the screen is positive, amniocentesis or chorionic villus sampling is necessary to confirm the diagnosis. Screening in the first and second trimesters is better than just screening in the first trimester of pregnancy. Various screening methods can select 90 to 95% of cases with a relative false positive rate of 2 to 5%.

Ultrasound

Ultrasound imaging can be used to screen for Down syndrome. Findings that indicate an increased risk during weeks 14–24 of pregnancy include small or absent nasal bone, large ventricles, increased nuchal fold thickness, and abnormal right subclavian artery, among the others. The presence or absence of many markers increases the accuracy of the prognosis. An increase in the fetal nuchal space indicates an increased risk of developing Down syndrome (in 75-80% of cases, the relative number of false positive conclusions is 6%).

Blood tests

Several blood markers can be measured to predict the risk of Down syndrome during the first or second trimester of pregnancy. Testing is sometimes recommended in both trimesters, and test results are often used in conjunction with ultrasound results. In the second trimester, two or three tests are often used in combination with two or three: alpha-fetoprotein, unconjugated estriol, total hCG and free βhCG, which allows diagnosis in about 60-70% of cases. The effectiveness of maternal blood testing for fetal DNA analysis is being studied. This method seems promising in the first trimester of pregnancy. The International Society of Prenatal Diagnostics considers this a reasonable screening option for those women whose pregnancy is high risk trisomy 21. The accuracy of this method is 98.6% in the first trimester of pregnancy. Confirmatory testing by invasive methods(amniocentesis, CVS) is still required to confirm the screening result.

Diagnostics

Before birth

When screening tests predict a high risk of developing Down syndrome, a more invasive diagnostic test (amniocentesis or chorionic villus sampling) is needed to confirm the diagnosis. If Down syndrome occurs in one in 500 pregnancies and the test used has a 5% false-positive rate, this means that out of 28 women who test positive on the screening test, only one will have confirmed Down syndrome. If a screening test has a 2% false positive rate, this means that one in 10 women with a positive screening test will have a fetus with Down syndrome. Amniocentesis and chorionic villus sampling are more reliable tests, but they increase the risk of miscarriage by 0.5-1%. The risk of limb complications in the offspring increases due to this procedure. The risk of the procedure is greater the earlier it is performed, so amniocentesis is not recommended before 15 weeks' gestation and chorionic villus sampling is not recommended before 10 weeks' gestation.

Abortion rate

In Europe, about 92% of pregnancies diagnosed with Down syndrome are terminated through abortion. In the United States, the abortion rate is about 67%, but this rate varies significantly depending on the population being assessed. When non-pregnant people are asked whether they would have an abortion if their fetus tested positive for diabetes, 23-33% responded in the affirmative. When interviewing high-risk pregnant women, 46-86% responded affirmatively, and when interviewing women who screened positive, 89-97% responded affirmatively.

After birth

Diagnosis can often be made based on the child's physical appearance at birth. Analysis of the baby's chromosomes is necessary to confirm the diagnosis and determine whether a translocation is present, as this can help determine the risk of having other children with Down syndrome. Parents usually want to know about a possible diagnosis if there is any suspicion. The National Down Syndrome Society has developed information about the positive aspects of living with Down syndrome.

Treatment

Efforts such as early childhood intervention, screening for common disorders, medical treatment if necessary, a good family environment, as well as professional training work-related activities may improve the development of children with Down syndrome. Education and proper care can improve quality of life. Raising a child with Down syndrome is a great responsibility for parents. For children with diabetes, routine vaccinations are recommended.

Health Screening

A number of health organizations have published disease-specific recommendations for screening patients with Down syndrome. This screening is recommended to be carried out systematically. At birth, all babies should receive an ECG and ultrasound of the heart. Surgery heart problems may be required as early as three months of age. Heart valve problems can occur in young people. Additional ultrasound analysis may be required in adolescence and at the beginning adult life. Due to the increased risk of testicular cancer, some recommend having your testicles checked annually.

Cognitive development

Hearing aids or other amplification devices may be useful for language learning in patients with hearing loss. Speech therapy can be helpful and is recommended around 9 months of age. Because people with Down syndrome tend to have good hand-eye coordination, learning sign language may be possible. Alternative and complementary communication, such as pointing, body language, and the use of objects or pictures, are often used to convey messages between people with diabetes and healthy people. Behavioral problems and mental illness are usually treated by psychological counseling or taking medications. Educational programs to achieve school age may also be useful. School-aged children with Down syndrome may benefit from inclusive education (where students of varying abilities are placed in classrooms with their peers), with some adjustments curriculum. However, there is little evidence to support the benefits of such education. In the United States, the Individuals with Disabilities Education Act of 1975 requires public schools to ensure the attendance of children with Down syndrome.

Other

Often, a child with diabetes will need tympanostomy tubes, often more than one set. Tonsillectomy is also often performed to help with sleep apnea and throat infections. Surgery, however, does not always help with sleep apnea. A continuous positive airway pressure machine may be used. Physical therapy and participation in physical education can improve motor skills. The data supporting this in adults, however, are not of very good quality. Efforts to prevent respiratory syncytial virus with monoclonal antibodies person should be considered, especially patients with heart problems. There is no evidence of benefit for memantine, donepezil, rivastigmine or galantamine in people with diabetes who develop dementia. Plastic surgery has been suggested as a way to improve appearance and, therefore, recognition of people from Down. It has also been suggested as a way to improve speech. The evidence, however, does not support significant benefit from any of these methods. Plastic surgery for children with Down syndrome is rare and continues to be controversial. The National Down Syndrome Society in the USA aims to achieve mutual respect and acceptance of people with diabetes, not their appearance. Many alternative medical methods used for Down syndrome; however, they are poorly supported by experimental data. These methods include: dietary changes, massage, animal contact therapy, gyropractic and naturopathy. Some proposed treatments may even be harmful.

Forecast

Between 5 and 15% of children with Down syndrome in Europe attend regular schools. Some graduate from high school. However, most don't. Among children with intellectual disabilities in the United States who attend high school, about 40% graduate. Many learn to read and write, and some are able to do paid work. About 20% of adults with diabetes in the United States are gainfully employed. In Europe, however, less than 1% of people with diabetes have permanent job. Many are able to live semi-independently, but they often need financial, medical and legal assistance. People with mosaic Down syndrome tend to be very successful. People with Down syndrome have a higher risk of early death than the general population. This most often occurs as a result of heart problems or infections. With improved medical care, especially for heart and gastrointestinal health, the life expectancy of people with diabetes is increasing. This increase increased from 12 years in 1912 to 25 years in the 1980s, from 50 to 60 years in developed countries in the 2000s. Currently, 4 to 12% of patients with diabetes die within the first year of life. Probability of survival in long term is partly determined by the presence of heart problems. Among people with congenital heart problems, 60% survive to 10 years of age and 50% survive to 30 years of age. Among patients without heart problems, 85% survive to 10 years and 80% survive to 30 years. About 10% of patients live to 70 years of age.

Epidemiology

Worldwide, as of 2010, Down syndrome occurs in approximately 1 in 1,000 births, and results in approximately 17,000 deaths. More babies with Down syndrome are born in countries where abortion is not allowed, and in countries where pregnancy is more common later in life. About 1.4 live births per 1,000 in the United States and 1.1 per 1,000 in Norway have Down syndrome. In the 1950s, in the United States, the number of newborns with diabetes was 2 children per 1000 live births, with a decrease in this number since then due to the spread of prenatal screening and abortion. The age of the mother affects whether the child may have Down syndrome. At age 20, the risk ratio is one in 1441. At age 30, it is one in 959; at the age of 40 years – one in 84; and at age 50, one in 44. Although the chance increases with maternal age, 70% of children with Down syndrome are born to women aged 35 or younger because younger people have more children. Elderly age father is also a risk factor in women over 35 years of age, but not in women under 35 years of age, and may partly explain the increase in risk as women age.

Story

The English physician John Langdon Down first described Down syndrome as separate form mental disability in 1862, and in a wider published report in 1866. Edouard Séguin described Down syndrome as a separate syndrome from cretinism in 1944. By the 20th century, Down syndrome had become the most recognized form of mental disability. In ancient times, many children with disabilities were either killed or abandoned. A number of historical works of art are believed to depict people with Down syndrome, including pottery from 500 AD. from South America and a 16th-century painting of the Adoration of the Christ Child. In the 20th century, many people with Down syndrome were institutionalized and some of the medical problems associated with DS were treatable, but most people with DS died in infancy or early adulthood. As the eugenics movement grew, 33 of the then 48 US states and several countries began forced sterilization programs for people with Down syndrome and comparable disabilities. The T4 killing program in Nazi Germany promulgated the policy of a systematic forced euthanasia program. With the discovery of karyotyping techniques in the 1950s, it became possible to identify abnormalities in the number or shape of chromosomes. In 1959, Jérôme Lejeune reported that Down syndrome was associated with the presence of an extra chromosome. However, Léger's claim to this discovery was disputed, and in 2014 the scientific council of the French Federation of Human Genetics unanimously awarded the Grand Prix to his colleague Marthe Gautier for this discovery. As a result of this discovery, DS became known as trisomy 21. Even before the discovery of the cause of DS, the syndrome was noted to be present in all races, its association with older maternal age, and its rarity in families. Medical texts suggested that the syndrome was caused by a combination of inherited factors that were not identified. Other theories have focused on injuries sustained during childbirth.

Society and culture

Name

Because John Langdon Down felt that children with Down syndrome shared facial similarities with the Mongoloid race, he used the term "Mongoloid". While the term Mongoloid (also Mongolism, Mongolian imbecility or idiocy) was still in use until the early 1970s, it is now considered unacceptable and is no longer in common use. In 1961, 19 scholars suggested that the term "Mongolism" was "laden with misleading connotations" and was "pejorative." World organization The World Health Organization (WHO) removed the term in 1965 following a request from a Mongolian delegate. In 1975 National institutions The United States Health Authority (NIH) held a conference to standardize names and recommended eliminating the possessive form (Down's syndrome), although both forms are now used. The term "trisomy 21" is also often used.

Ethics

Some argue that not offering screening for Down syndrome is unethical. Because screening is a medically reasonable procedure, with informed consent, people should, at least, be provided with information about this. A woman will have to make a choice, based on her personal beliefs, whether she needs screening. Once the test results are known, it is also considered unethical not to provide them to the person. Some believe it is advisable for parents to choose the child who will be most prosperous in life. However, this position has been criticized because it argues that people with disabilities are of lesser value. Others argue that Down syndrome cannot be prevented or cured and that eliminating Down syndrome is simply genocide. The disability rights movement does not take a position on screening, although some members consider testing and abortion to be discriminatory. Some movements in the United States (Pro-Life) support abortion if the fetus is disabled, while others do not. Among a group of 40 mothers in the United States who had one child with Down syndrome, half agreed to screening for next pregnancy. In Christianity, some Protestant groups view abortion as an acceptable measure if the fetus has Down syndrome, while Orthodox and Catholics often oppose it. Some of those opposed to screening refer to it as a form of “eugenics.” There is also controversy in Islam regarding the permissibility of abortion for mothers whose fetus has been diagnosed with Down syndrome. In some Islamic countries abortion is legal, while in others it is not. Women may face stigma depending on the decision they make.

Support groups

After World War II, support groups for people with Down syndrome were formed. These were organizations advocating for the inclusion of people with Down syndrome in common system school education, as well as for greater understanding of this disease in the general population. The groups provided support to families with children with Down syndrome. Organizations included the Royal Society for Handicapped Children and Adults, founded in Britain in 1946 by Judy Freed, Kobato Kai, founded in Japan in 1964, the National Down Syndrome Congress, founded in the United States in 1973 by Catherine McGee and others, and National Down Syndrome Society, founded in 1979 in the United States. The first World Down Syndrome Day was held on March 21, 2006. This day and month were chosen to correspond with the number 21 and trisomy, respectively. This day was recognized by the United Nations General Assembly in 2011.

Study

Down syndrome is a genetic anomaly that occurs as a result of the bifurcation of one of the 21 chromosomes, as a result of which the human chromosome set includes not 46, but 47 chromosomes, which causes further clinical signs.

The phenomenon was first described by the English physician John Down (thanks to whom the syndrome got its name) in 1866 as mental retardation with characteristic external signs, but only in 1959 did the French geneticist Jerome Lejeune determine the connection between the excess number of chromosomes and the symptoms of the syndrome.

Today, despite the high development of medical technologies, Down syndrome is a very common and not fully understood phenomenon, which gives rise to many different myths, sometimes contradicting each other. However, it is known that:

1. This anomaly is equally common in both sexes, different ethnic groups and nationalities.
2. The development of the syndrome does not depend on the lifestyle of the parents and has a genetic “origin”, when anomalies arise either at the stage of formation of the egg or sperm (it is not excluded, but it is practically unlikely that they can be influenced by harmful environmental factors), or during the fusion of sexual cells after fertilization.
3. The syndrome occurs due to pathological processes in genes, when 1 more chromosome is added to the 21st pair (that’s why there are 47 of them instead of 46). Most often this happens because chromosomes do not separate during cell division. In addition, one of the main reasons may be the heredity of a mutation on chromosome 21 - when this chromosome merges with another. This mutation is called trisomy and occurs in approximately one in 800 newborns, and 88% of cases occur due to “non-disjunction” of female gametes (reproductive cells).
4. Down syndrome - common pathology, which has 3 forms (hereditary disease, mutation of chromosome 21, mosaic disease) and 4 degrees of the disease:

• weak - patients practically do not differ from ordinary children, quite often successfully adapt to society and can occupy a very prestigious place in society;
• average;
• heavy;
• deep - children cannot lead the generally accepted lifestyle of society, and this makes life much more difficult for parents. Nowadays, there is a special prenatal diagnosis that allows you to find out in time about the likelihood of developing pathology. If Down syndrome is suspected, parents are faced with the question: should they keep the child or get rid of the pregnancy? At the birth of a baby, others will arise: how to raise a child, how to provide him with normal life and at the same time live fully yourself?

5. It is not recommended to call Down syndrome a disease, since people living with this syndrome, although they have pathological changes that prevent them from realizing their full potential, however, with the right approach from early years, most specialists are able to adapt quite well to society.

Causes of Down syndrome development

As we have already said, Down syndrome occurs due to an abnormality in cell division, when another third chromosome is attached to the 21st pair of chromosomes. In other words, this is a congenital pathology that cannot be acquired during life. The causes of chromosomal disorders are very difficult to establish.

This occurs as a result of 3 forms of pathology that have an almost identical clinical picture of this syndrome:

1. Trisomy- a subtype of the syndrome, characterized by the formation of three chromosomes in 21 pairs. This phenomenon has been little studied, but there is a version that the age of the mother plays a significant role here: the older the woman, the greater the likelihood of giving birth to a baby with Down syndrome. This is due to the age of the egg, when it is possible for a gamete to be generated not with 23, but with 24 chromosomes. In this case, when a cell is fertilized with a male gamete with 23 chromosomes, one remains extra, and a mutation occurs: the chromosome is glued (attached) to the 21st pair. As a result, all fetal cells will contain 47 chromosomes.
2. Mosaicism- a rare phenomenon (accounting for only 1-2% of all cases), in which not all fetal cells will contain an abnormal number of chromosomes, therefore only those affected by the phenomenon of the syndrome individual organs and tissue (if copying occurs in genes responsible for mental and motor development, then the development of the syndrome in the fetus cannot be avoided). This is due to the “non-divergence” of the chromosome series not at the stage of formation of parental germ cells, but at the early stages of embryo development. This form of the syndrome - with a smoothed clinical picture - is considered mild, but during perinatal studies it is extremely difficult to diagnose.
3. Translocation- occurs during the fusion of cells and at the same time there is a displacement of part of one chromosome in the 21st pair to the side of another chromosome.

However, there are other reasons for the development of Down syndrome:

1. The age of the parents is a girl who is too young or, conversely, a woman over 40 years old, and for men over 45 years old (the risk of having a child with the syndrome is 1:30). Due to age, the maturation and division of chromosomes “slows down”, resulting in a defective cell. Being involved in fertilization, it will subsequently cause the development of Down syndrome.
2. Consanguineous marriage (relationship).
3. Shortage folic acid during pregnancy.
4. The likelihood of having a child with Down syndrome increases if the disease occurs in the parents' family.

Down syndrome symptoms

The disease is usually called a syndrome, as it is characterized by a number of symptoms and signs, as well as characteristic manifestations:

• narrow and slanted (Mongoloid) eyes ( formerly pathology was called "Mongolism");
• the presence of an epicanthus (a special fold at the inner corner of the eye that covers the lacrimal tubercle and does not extend to the upper eyelid);
• strabismus and noticeable pigmentation of the iris (Brushfield spots), possible cataracts;
• flat profile - flat and wide bridge of the nose and short nose, occipital region;
• shortened (small) skull;
• shortened neck - the newborn has a fold of skin in this area;
• underdeveloped ears;
• hypotension ( weak tone) muscles;
• arched palate, abnormally large tongue (macroglossia) and open mouth due to decreased muscle tone;
• wide hands with short fingers due to underdevelopment of the middle phalanges - curvature is observed in the little finger,
• there is a single transverse fold on the palms;
• short limbs;
• deformation (keeled or funnel-shaped) of the chest is observed;
• often (about 40%) children with the syndrome are born with a congenital heart defect (defective processes in the septum between the ventricles), which is one of the main causes of their mortality;
• pathological processes gastrointestinal tract(for example, artesia of the duodenum);
• a child may be born with leukemia;
• the child is lagging behind in growth and mental development;
• hoarse voice;
• Most often, patients are infertile, but when offspring appear, children have the same pathology.

However, it is worth noting that people with Down syndrome rarely have malignant tumors, and this is due to the protection of the extra gene.

When twins are born, the syndrome is observed in both children.

The severity of the above symptoms varies in all patients.

Diagnosis of Down syndrome

The modern level of medicine and technology for suspected Down syndrome allows timely diagnosis and if DNA abnormalities are detected, get rid of the current pregnancy.

Several methods are used for diagnosis:

1. Ultrasound - performed in the 2nd or 3rd trimester of pregnancy, when a fetal scan is performed to identify pathology. This method makes it possible to “see” the signs of Down syndrome using some “measurements”:

• thickening of the collar space (with developing syndrome it will be more than 3 mm);
• absence of nasal bone;
• small size of the frontal lobe and cerebellum (hypoplasia);
• shortened femoral and ulna bones and etc.

However, ultrasound reveals only one form of the syndrome - trisomy. The remaining subtypes of pathology cannot be detected by this diagnostic method.

2. Biochemical analysis of the blood of a pregnant woman in the 1st trimester (to establish the karyotype - the gene content of the mother's blood), during which the level of the hormone synthesized by the fetus (hCG) and PAPP-A is taken into account. In the 2nd trimester, the analysis is carried out again.

3. A biochemical test (based on the level of free chorionic hormone) makes it possible to diagnose Down syndrome at the 12th week of pregnancy, and at the 16th week a test is carried out for estriol and α-phaetoprotein - indicators of the presence of Down syndrome. When confirming the data, you must immediately contact a geneticist, who will prescribe:

• choriobiopsia - examination of fetal membrane tissue;
• amniocetesis (analysis of amniotic fluid) - study cellular composition amniotic fluid, as well as baby tissues, which will provide information about the cellular set of chromosomes of the child;
• cordocentesis - analysis cord blood fetus

These methods are highly accurate, but, unfortunately, unsafe for a woman - they can lead to complications, including miscarriage, and therefore are carried out only in extreme cases (if the pregnant woman is over 35 years old, if there is a suspicion of the syndrome in ultrasound studies or if there is a disease in family).

However, science does not stand still, and clinics in London have already developed a special test that allows you to accurately find out about all genetic diseases.

Treatment of Down syndrome

Down syndrome is an incurable disease, since no one can “correct” DNA, but it is possible to improve the general condition of the patient and improve his quality of life.

Treatment congenital pathologies carried out by specialists - pediatrician, cardiologist, gastroenterologist, ophthalmologist and others. Their efforts are aimed at improving the patient’s health, and despite the fact that there is no specific treatment for the syndrome, it is still impossible to avoid taking medications. Among them:

• Piracetam, Aminolon, Cerebrolysin - to normalize blood circulation in the brain;
• neurostimulants;
• vitamin complexes - to strengthen general health.

However, quite often, with age, children with Down syndrome experience a number of complications associated with physical health: diseases of the heart and digestive organs, disorders of the endocrine and immune systems, problems with hearing, sleep, vision, cases of respiratory arrest are common. In addition, almost a quarter of patients after 40 years of age (and sometimes earlier) experience obesity, epilepsy, Alzheimer's disease and leukemia. At the same time, it is difficult to predict how the disease will develop, because everything depends on the individual characteristics of the body, the degree of the disease and activities with the child. Few people with Down syndrome live past 50 years of age.

At the same time, a speech therapist, neurologist and other specialists are engaged in eliminating significant disorders of verbal and motor functions, delays intellectual development; teaching self-care skills. Based on this, it is recommended to send children with Down syndrome to specialized educational institutions.

To correct mental retardation, specially designed training programs are used, and it is worth noting that mental and cognitive symptoms are expressed differently in each individual case.

Depending on the degree of damage and the treatment performed (trainings with the child), a significant reduction in developmental delay can be achieved. With regular activities with the baby, he is able to learn to walk, talk, write and take care of himself. Children with Down syndrome can attend public schools, study at colleges, get married, and even in some cases have children of their own.

There are quite a lot of artists, writers, and performers among people with Down syndrome. There is even an opinion that “children of the sun” are not just a genetic disease, but a separate “species” of people who are not only distinguished by the presence of an “extra” chromosome, but live by their own moral laws and have their own principles.

People with Down syndrome are often called “children of the sun” or “sunny” because they constantly smile, are gentle, kind and radiate warmth. In 2006, International Down Syndrome Day was established and is celebrated worldwide on March 21.

Especially for - Kira Danet

The most exciting moment in any woman’s life is the birth of her own child. After nine long months of anticipation and worry, the time has come to look into the face of a newborn baby. And... Sometimes it happens that a woman who has just given birth sees not the happy, but the horror-filled eyes of a midwife holding a small baby in her arms... Yes, unfortunately, it also happens that instead of the expected healthy, well-fed baby, a disabled child is born . And this happens not so rarely. For example, for every 600-800 newborns, a child is born with Down syndrome. A newborn with Down syndrome is considered handicapped and requires special attention from parents.
In general, in medicine the concept of syndrome is a set of symptoms united by a common pathogenesis. Down syndrome was first described by the English physician John Down in 1866, who systematized some general signs diseases.
Down syndrome is a genetic disorder of embryonic development when an extra chromosome is inexplicably detected in a person’s karyotype, that is, instead of standard set– 46xx or 46xy chromosome formula looks like 47xy or 47xx. The reasons for this chromosomal malfunction are still unknown to science.
With the modern development of medicine, doctors who suspect Down syndrome in a newborn are afraid to make a diagnosis “by eye”, without additional mandatory in this case genetic testing, but experienced obstetricians and neonatologists, as a rule, make the correct diagnosis even without these tests. Because a newborn with Down syndrome looks a little different than healthy child, and some characteristic features You can easily understand that a newborn child is “special.” Here we present some external characteristic signs of a child with Down syndrome.
-The face is slightly “flattened”, looks flatter than that of healthy children.
-Characteristic cervical fold
-The eyes at the bridge of the nose are slightly narrowed according to the Mongoloid type
-Small deformed ears, and the ear canals are already normal
- Brachycephaly, that is, short-headedness
-The back of the head, like the face, is also a little “flattened”.
-Decreased muscle tone
-Dysplasia, that is, joint hypermobility
--Arms and legs are shorter compared to other babies' limbs
-Underdevelopment of the middle phalanges of the fingers, as a result of which both fingers and palms appear shortened
-The height and weight of the newborn is below average.
But the biggest difference between a newborn with Down syndrome and ordinary children is in the structure of the skull, as well as the entire musculoskeletal system. These differences, however, do not occur in everyone, but in the majority of Down children, approximately 80%.
-Almost all the time the small mouth is slightly open
-Narrow arched palate
- A large tongue almost always sticks out, so the mouth is smaller than usual, and muscle tone is reduced.
-Small chin
-Deformed little finger that curls toward the ring finger
-Folds in the tongue that appear as the baby grows
-Flatten bridge of the nose
-Short neck
-The nose is shorter and the bridge of the nose is wider than usual
-On a leg thumb is located at some distance from the rest of the fingers
-Various defects of the heart and cardiovascular system, which, however, are revealed during examination
If the above-mentioned signs are observed in a newborn, it is already possible to suspect Down syndrome in the newborn with a high degree of probability. Below we will give a few more characteristic features, which, however, are not found in all, but in a quarter of children.
Strabismus
Brushwild's spots are small, collar-like spots around the iris.
Protruding or, conversely, concave chest
Tendency to epileptic seizures
Various defects of vital organs, in particular the digestive and genitourinary systems
Congenital leukemia
Newborns with Down syndrome almost always have a second fontanelle on the head, and it takes much longer than usual to close.
Even during pregnancy, you can find out for sure whether the unborn child has any genetic abnormalities, chromosomal disorders - special studies are carried out, analysis of the periplacental waters, the placenta itself, as well as the blood of the fetus. If the answer is positive, future parents must make an important decision about continuing the pregnancy. And if a decision is made to keep the child, one must be prepared for the characteristics of their unborn child.
And most parents understand that life, which has already begun, must continue no matter what, and they must support this life, accept the born child and raise him, taking into account all the features of this disease. Of course, it will be very difficult to teach such a child to serve himself, to teach him to read, write, count, do something with his own hands - in general, to live in this world. But these “special” children, as a rule, are very kind, sympathetic, and their love for their parents can compensate for all the parental energy expended. And in fact, children are different, but, as a rule, they love everyone, because they love not for something, but just like that, because the parents say with confidence that this is my child and I love him for who he is.

Down's 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 was able 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. Healthy human cells have 23 pairs of different chromosomes, which carry genes necessary for proper development 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 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. This is why it is necessary to carry out various analyzes pregnant women over 35, which makes it possible to detect 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 sticking out, 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, short neck and nose, 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. These signs include the presence of strabismus, age spots along the edge of the iris, clouding of the lens, abnormal structure of the chest, defects of the digestive and genitourinary systems, open or extra fontanel.

In addition, children with Down syndrome are very similar to each other and do not look like their parents.

Diagnostics

Many of the signs described above may indicate a disease, or may simply be physiological feature 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 carry out biochemical analysis blood 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. the world. Because of this, problems arise with the development of speech and writing. In addition, such children often get sick colds, 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 social activities.

The reason is that the very attitude of society towards this disease has changed. Children diagnosed with Down's disease are increasingly left with families and 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.

Treatment and prognosis

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 developmental disabilities 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 are educated in specialized educational institutions, but there are cases of visiting 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.

The article describes the characteristics of children with Down syndrome and methods for detecting genetic pathologies in the fetus during pregnancy.

Often special cheerful and good-natured people with slanted eyes and round faces cause pity or misunderstanding among others. But few people know that people with Down syndrome are not only disabled people who need protection and sympathy, but, first of all, creative, comprehensively developed, talented individuals.

What does the word Down mean?

Down syndrome is named after the doctor John Down, who first discovered similarities in behavior, mental capabilities and expression of emotions in people with certain common features structure of the skull and tongue. The disease officially received its name in 1965.

The doctor and scientist Down worked as a medical director at the Ersud Royal Asylum for the Insane since 1858. The goal of his activities was to prove that classes with mentally retarded children give positive results. He became the founder of the Normansfield Development Center, created for children with genetic disorders.

IMPORTANT: Down children are also called Sunny children because of their positive thinking, love for all living things, the ability to make friends, sympathize and empathize.

What is Down syndrome: symptoms, face, photos of newborns

Down syndrome is an abnormal genetic feature of the body that occurs when the number of chromosomes increases. Instead of 46 chromosomes, nature “endowed” these people with 47 chromosomes, namely, the 21st pair has an extra chromosome.

IMPORTANT: According to WHO statistics, 1 in 650 - 700 babies has Down syndrome. Moreover, the number of male and female children with this pathology is the same.

The frequency of births with Downs increases with the age of the mother, however, even 18-year-olds are not immune from the manifestation of this genetic disease in their children. After 33 years, a woman’s risk of giving birth to Down increases several times.

There are such forms of the syndrome:

• trisomy
• translocation
• mosaicism

Symptoms:

• the face and back of the head are unnaturally flat
• special eye shape
• peculiar shape of the skull
• wide skin folds in the area of ​​the upper eyelids
• unnaturally small ears
• short limbs
• curvature of the little finger
• far back thumb
• deep fold “cutting” the palm across
• slow growth
• weak muscle tone
• poor coordination
• slurred speech
• weak mental abilities

IMPORTANT: Despite many physical characteristics, people with Down syndrome are cheerful, open, naive, cheerful, kind and affectionate. Many of them have a well-developed ear for music and a passion for art.

The face of a person with Down syndrome has four striking features:

• round and flat shape
• slanted eyes with additional folds above the eyelids at the top
• open mouth
• wide and at the same time small nose

How many chromosomes does a person with Down syndrome have?

Down syndrome is also called trisomy on chromosome 21. This means that downs inherit three instead of two 21 chromosomes. Usually two copies are inherited from the mother and one from the father. Thus, instead of 46 chromosomes, downs have 47 chromosomes, 3 of which are the 21st.

About 3% of downs do not inherit the entire 21st chromosome, but only some genes attached to the 14th chromosome. This phenomenon is called translocations.

Another 3% inherit the genes of chromosome 21 not in every cell, but only in some. This mosaic option. Often such people do not have clear signs syndrome, their intellectual and physical abilities not very limited. Signs of the mosaic type may be invisible to others.

Why are children born with Down syndrome: reasons

The only thing that increases the risk of having a Down is the age of his biological father and mother. The older the parents, the more likely it is that a child will be born with genetic disorders.

For woman"critical" age begins with 33-35 years, when the probability of having a Down increases to 1:30. For a man this danger is increasing after 42 years. This is due to the aging of the female body and the deterioration of sperm quality in men.

IMPORTANT: Smoking, alcoholism, drug addiction, and an antisocial lifestyle do not increase the likelihood of being born with Down. Ecology, ambient temperature or weather also do not affect the appearance of this pathology.

Also, the cause of giving birth to a child with Down syndrome is high among mothers with Down syndrome (about 50%). However, in most cases they experience spontaneous miscarriages early stages. Down men cannot have children.

Who gives birth to children with Down syndrome?

Children with Down syndrome can be born to completely healthy parents. If healthy parents have already given birth to one down child, then the probability of them having a second down child is approximately 1%.

The older the mother, the greater the likelihood of being born with Down:

• under 25 years old – 1:2000
• 25 years – 1:1250 – 1:1270
• 30 years – 1:1000
• 35 years 1:450
• 40 years – 1:150
• 45 years – 1:30 – 1:50

The likelihood of being born with Down syndrome is increased in those who are carriers of a genetic translocation. If the carrier is the mother, then this probability is 30%, the father is about 5%.

Down syndrome: signs during pregnancy

It is quite difficult to identify Down syndrome in a fetus in the early stages. One of alarms is the detection on ultrasound of subcutaneous fluid in the back (collar) part of the neck at 11–13 weeks. However, this method is unreliable - in 20% of cases the result turns out to be false.

The results of a comprehensive examination are the most reliable. If, at the same 11–13 weeks, an ultrasound revealed a pathological thickening in the collar area and, in addition, the results of the blood serum test were positive, the pregnant woman is prescribed a “triple test” at a period of 16–18 weeks.

In cases where all these analyzes and tests indicate the presence of Down syndrome in the fetus, there is no doubt: 99 out of 100 children will be born with an additional 47th chromosome.

IMPORTANT: The fewer tests and analyzes were carried out, the less you can trust the result. Thus, the “triple test”, which determines the level of estriol, hCG and serum alpha-fetoprotein, itself produces an error in 9% of cases.

Test, tests for Down syndrome during pregnancy

Tests and analyzes for Down will definitely be needed for those pregnant women whose children were found to have a thickened collar space during an ultrasound scan.

At 16–18 weeks, a blood test for hormones is performed. If this test also confirms that the fetus has Down syndrome, it will be necessary to check the anatomical fluid. This procedure is carried out in a hospital and involves a puncture of the pregnant woman's abdominal cavity and collection of amniotic fluid for analysis.

IMPORTANT: After this test, the risk of miscarriage increases many times over. To do or not to do it is the business of every mother. If amniotic fluid analysis is done on later, and it confirms the presence of genetic defects in the fetus, it will not be possible to have an abortion - you will have to induce premature birth.

Is Down syndrome visible in a fetus on ultrasound?

If the fetus has abnormalities that indicate the likelihood of developing Down syndrome, the doctor will definitely detect them during an ultrasound. Indicators by which one can judge the possibility of the presence of the syndrome are:

• collar area enlarged
• spina bifida
• nasal bone is too small
• baby's face is flat
• little fingers are small, underdeveloped

IMPORTANT: Ultrasound results alone are not enough to obtain reliable results. Only the results of additional examinations and tests can confirm or refute the presence of Down syndrome in the fetus.

Down syndrome: how to treat and is it possible to cure Down syndrome?

Down syndrome itself is not curable, as it is, in fact, a genetic error. However, children with this syndrome are born with weakened immunity and a “set” of congenital concomitant diseases. Therefore, in order to avoid the development of complications, the child must be constantly under the supervision of a number of specialists.

IMPORTANT: Despite the fact that Down syndrome cannot be cured, Sunny children need to be constantly dealt with. Regular developmental activities, proper care and treatment contribute to the socialization of Downs in ordinary society.

Down training should take place in game form and supplemented with animal therapy (communication with animals). Such activities give good positive results and allow children to develop intellectually.

Risk of having a child with Down syndrome

Since Down syndrome is an error, an accident in the transmission of heredity, the risk of being born with Down exists for every healthy person. However, the risk decreases in families where there is already one down child.

Recent research by Indian scientists has led to unexpected results. It turns out that not only the age of the mother and father influence the likelihood of having a Sunny baby, but also the age of the maternal grandmother. The older she was when she gave birth to her daughter, the higher the risk that her grandchildren would be born Down.

Also, the likelihood of being born with a Down is high in cases of close family relationships.

Other factors do not in any way affect the possibility of a genetic malfunction in the fetus.

When is the risk of Down syndrome high according to the first screening?

The first screening (no earlier than 10, but no later than 14 weeks) allows early suspicion of the presence of genetic pathology. An ultrasound is performed and blood is taken to determine the amount of hormones. If both of these studies are positive, the pregnant woman is sent for a consultation with a geneticist, who in most cases prescribes two additional analysis: chorionic biopsy and amniocentesis.

These tests make it possible to determine the set of chromosomes in the fetus, but they can provoke a miscarriage.

IMPORTANT: Testing for Down in the early stages has reduced the number of newborns with this genetic anomaly to 1:1000.

Is Down syndrome inherited?

The risk of being born with Down syndrome in a family where there are blood relatives with this syndrome depends primarily on its form. So trisomy is not transmitted, while translocation can be inherited.

IMPORTANT: If a mother has Down syndrome, then her child has a 50% risk of being born with a similar genetic disorder.

Can people with Down syndrome have children?

Men downs in most cases they cannot have children. The exception is cases of mosaic Down syndrome in males - their reproductive capabilities are preserved.

Women downs can give birth to a child, but most often they experience spontaneous abortions in the early stages.

How many years do people with Down syndrome live?

The average lifespan of people with Down syndrome is 50 years. But if in developed countries with a normal attitude towards people with disabilities and their full socialization this figure is much higher, then in Russia, Ukraine and other countries where this problem is not given due attention, it does not exceed 35.

Abroad, Down children go to regular kindergartens and schools, attend clubs and sports clubs, and receive higher education. As adults, they easily find work that does not require intense mental work.

They act in films and perform on stage, play sports and paint pictures, start families and raise children. In a word, they feel like full-fledged members of society. All this helps to prolong the life of these special people.

What makes Downs similar to each other are some common traits for this genetic disorder: eye shape, nose size, roundness of the face, body structure, as well as a cheerful, friendly disposition.

However, despite the external similarity, each of them is an individual. The character and developmental characteristics of each of these people are individual.

Prevention of Down syndrome

The only effective preventive method for Down syndrome in a child is conception and birth of a baby at a young age. Young parents are the least likely to have a child with genetic disorders.

If the mother and father of the child are over 35 - 40 years old, the woman should visit a geneticist, undergo the necessary examinations and pass all recommended tests.

IMPORTANT: If the fetus is confirmed to have Down syndrome, the woman will be offered an abortion.

Famous people with Down syndrome

Among people with Down syndrome there are many famous outstanding musicians, actors, artists and athletes. Their records and achievements surprise, delight and inspire hope in desperate relatives of people with genetic disorders.

The whole world knows:

• Pablo Pineda– actor, the first person in the world with Down syndrome who was able to graduate from a higher education institution
• Stephanie Gins– actress who starred in the film “Duo”, which subsequently received many American film awards
• Michael Johnson- artist
• Sergey Makarov- Russian actor, plays at the Theater of the Innocent
• Ronald Jenkins– a brilliant composer, has been playing the synthesizer since he was 6 years old
• Max Lewis– English actor
• Karen Gaffney- athlete who set a world record in swimming
• Paula Sazh– lawyer, athlete, actress
• Maria Langovaya– Olympic champion swimmer who won gold at the Special Olympics
• Jamie Brewer- actress who starred in " American history horror"

Children with Down syndrome among famous people

As mentioned above, Down syndrome is nothing more than a genetic error. And if it could have been avoided or prevented, then who, no matter how famous and rich with their capabilities and connections, would have done it.

However, in famous families public people Downa children are also born:

08/30/1995 Boris Yeltsin grandson Gleb was born with Down syndrome. Now the boy plays chess well, draws and plays sports.

• 1.04. 2012 actress Evelina Bledans gave birth to a down son, Semyon. Now the boy is developing, just like his absolutely healthy peers. The parents learned that the child would be born with disabilities at the 14th week of pregnancy, but there was no question of killing the child. Parents are happy and enjoy raising their sunny boy
• Son's Spanish national team coach football Down syndrome. Alvaro del Bosque has been the team's mascot for 25 years. The players loved him for his friendliness and openness. Every time the guy comes to training with his father and supports his friends
• In 1997 Irina Khakamada gave birth to a special daughter, Maria, who, in addition to Down syndrome, suffered from leukemia. Now the girl is learning to draw, dances and sings well

Video: Evelina Bledans and her child with Down syndrome

Down syndrome symbol

The official symbol of people with Down syndrome is a blue and yellow ribbon. Those who support Downs or suffer from this syndrome themselves wear a ribbon or symbol badge on their chest.

March 21 is International Down Syndrome Day

Every year since 2005, on the 21st of the third month, the whole world celebrates International Down Syndrome Day. This date was not chosen by chance - it symbolizes the three twenty-first chromosomes that distinguish Downs from ordinary people.

In Russia, this day was celebrated for the first time only in 2011.

IMPORTANT: Down Day is celebrated with the goal of informing as many people as possible about the features of this gene pathology.

If life has decreed that a child is destined to be born down, parents should not despair, because these children are a real gift. Abroad, refusals of newborns with Down syndrome do not exceed 1% (in Russia - 95% of refusals), and the waiting list for the adoption of sunny children must be filled several years in advance.

It is enough just to change your attitude towards this genetic feature, stretch out your hands towards your own happiness and let the sunshine into your life.

Video: Close-up. Children with Down syndrome