How is a child born with down syndrome

About Down Syndrome | National Down Syndrome Society (NDSS)

In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21.

This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.

How common is Down syndrome?

According to the Centers for Disease Control and Prevention, approximately one in every 772 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 5,100 babies with Down syndrome are born in the United States each year. (De Graaf et al., 2022).

When was Down syndrome discovered?

For centuries, people with Down syndrome have been alluded to in art, literature, and science. It wasn’t until the late nineteenth century, however, that John Langdon Down, an English physician, published an accurate description of a person with Down syndrome. It was this scholarly work, published in 1866, that earned Down the recognition as the “father” of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the condition as a distinct and separate entity.

In recent history, advances in medicine and science have enabled researchers to investigate the characteristics of people with Down syndrome. In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each cell, Lejeune observed 47 in the cells of individuals with Down syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. In the year 2000, an international team of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. This accomplishment opened the door to great advances in Down syndrome research.

Are there different types of Down syndrome?

Trisomy 21 (Nondisjunction)

Down syndrome is usually caused by an error in cell division called “nondisjunction.” Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body. This type of Down syndrome, which accounts for 95% of cases, is called trisomy 21.

Mosaicism

Mosaicism (or mosaic Down syndrome) is diagnosed when there is a mixture of two types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21.

Mosaicism is the least common form of Down syndrome and accounts for only about 2% of all cases of Down syndrome (Facts about Down syndrome, 2021). Research has indicated that individuals with mosaic Down syndrome may have fewer characteristics of Down syndrome than those with other types of Down syndrome. However, broad generalizations are not possible due to the wide range of abilities people with Down syndrome possess.

Translocation

In translocation, which accounts for about 3% of cases of Down syndrome, the total number of chromosomes in the cells remains 46; however, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14 (Facts and Down syndrome, 2021). The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome.

What causes Down syndrome?

Regardless of the type of Down syndrome a person may have, all people with Down syndrome have an extra, critical portion of chromosome 21 present in all or some of their cells.

The cause of the extra full or partial chromosome is still unknown. Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism. However, due to higher birth rates in younger women, 51% of children with Down syndrome are born to women under 35 years of age. (De Graaf et al., 2022).

There is no definitive scientific research that indicates that Down syndrome is caused by environmental factors or the parents’ activities before or during pregnancy.

The additional partial or full copy of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.

A Promising Future Together

This booklet includes sections on healthy starts, early intervention therapies, how to find support and care for your family, and what the future holds for your child.

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

Down syndrome occurs in people of all races and economic levels, though older women have an increased chance of having a child with Down syndrome. A 35 year old woman has about a one in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40. At age 45 the incidence becomes approximately 1 in 30. The age of the mother does not seem to be linked to the risk of translocation.

Since many couples are postponing parenting until later in life, the incidence of Down syndrome conceptions is expected to increase. Therefore, genetic counseling for parents is becoming increasingly important. Still, many physicians are not fully informed about advising their patients about the incidences of Down syndrome, advancements in diagnosis, and the protocols for care and treatment of babies born with Down syndrome.

Does Down syndrome run in families?

All 3 types of Down syndrome are genetic conditions (relating to the genes), but only 1% of all cases of Down syndrome have a hereditary component (passed from parent to child through the genes). Heredity is not a factor in trisomy 21 (nondisjunction) and mosaicism. However, in one-third of cases of Down syndrome resulting from translocation, there is a hereditary component – accounting for about 1% of all cases of Down syndrome (Facts about Down syndrome, 2021).

The age of the mother does not seem to be linked to the risk of translocation. Most cases are sporadic – chance – events. However, in about one-third of cases, one parent is a carrier of a translocated chromosome.

What is the likelihood of having a second child with Down syndrome?

Once a woman has given birth to a baby with trisomy 21 (nondisjunction) or translocation, it is estimated that her chances of having another baby with trisomy 21 is 1 in 100 up until age 40.

The risk of recurrence of translocation is about 3% if the father is the carrier and 10-15% if the mother is the carrier. Genetic counseling can determine the origin of translocation.

Maternal Age	Incidence of Down syndrome
20	1 in 2,000
21	1 in 1,700
22	1 in 1,500
23	1 in 1,400
24	1 in 1,300
25	1 in 1,200
26	1 in 1,100
27	1 in 1,050
28	1 in 1,000
29	1 in 950
30	1 in 900
31	1 in 800
32	1 in 720
33	1 in 600
34	1 in 450
35	1 in 350
36	1 in 300
37	1 in 250
38	1 in 200
39	1 in 150
40	1 in 100
41	1 in 80
42	1 in 70
43	1 in 50
44	1 in 40
45	1 in 30
46	1 in 25
47	1 in 20
48	1 in 15
49	1 in 10

How is Down syndrome diagnosed?

Prenatally

There are two categories of tests for Down syndrome that can be performed before a baby is born: screening tests and diagnostic tests. Prenatal screens estimate the chance of the fetus having Down syndrome. These tests do not tell you for sure whether your fetus has Down syndrome; they only provide a probability. Diagnostic tests, on the other hand, can provide a definitive diagnosis with almost 100% accuracy.

There is an extensive menu of prenatal screening tests now available for pregnant women. Most screening tests involve a blood test and an ultrasound (sonogram). The blood tests (or serum screening tests) measure quantities of various substances in the blood of the mother. Together with a woman’s age, these are used to estimate her chance of having a child with Down syndrome. These blood tests are often performed in conjunction with a detailed sonogram to check for “markers” (characteristics that some researchers feel may have a significant association with Down syndrome). New advanced prenatal screens are now able to detect chromosomal material from the fetus that is circulating in the maternal blood. These tests are not invasive (like the diagnostic tests below), but they provide a high accuracy rate. Still, all of these screens will not definitively diagnose Down syndrome. Prenatal screening and diagnostic tests are now routinely offered to women of all ages.

The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry up to a 1% risk of causing a spontaneous termination (miscarriage), are nearly 100% accurate in diagnosing Down syndrome. Amniocentesis is usually performed in the second trimester between 15 and 20 weeks of gestation, CVS in the first trimester between 11 and 14 weeks (Chrionic villus sampling, 2020).

At Birth

Down syndrome is usually identified at birth by the presence of certain physical traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes. Because these features may be present in babies without Down syndrome, a chromosomal analysis called a karyotype is done to confirm the diagnosis. To obtain a karyotype, doctors draw a blood sample to examine the baby’s cells. They photograph the chromosomes and then group them by size, number, and shape. By examining the karyotype, doctors can diagnose Down syndrome. Another genetic test called fluorescence in situ hybridization (FISH) can confirm a diagnosis in a shorter amount of time by visualizing and mapping the genetic material in an individual's cells.

What impact does Down syndrome have on society?

Individuals with Down syndrome are becoming increasingly integrated into society and community organizations, such as schools, health care systems, work forces, and social and recreational activities. Individuals with Down syndrome possess varying degrees of cognitive delays, from very mild to severe. Most people with Down syndrome have cognitive delays that are mild to moderate.

Due to advances in medical technology, individuals with Down syndrome are living longer than ever before. In 1910, children with Down syndrome were expected to survive to age nine. With the discovery of antibiotics, the average survival age increased to 19 or 20. Now, with recent advancements in clinical treatment, most particularly corrective heart surgeries, as many as 80% of adults with Down syndrome reach age 60, and many live even longer (Down syndrome, 2018). More and more Americans are interacting with individuals with Down syndrome, increasing the need for widespread public education and acceptance.

Preferred Language Guide

Use this language when referring to Down syndrome and people who have Down syndrome:

People with Down syndrome should always be referred to as people first.
Instead of “a Down syndrome child,” it should be “a child with Down syndrome.” Also avoid “Down’s child” and describing the condition as “Down’s,” as in, “He has Down’s.”
Down syndrome is a condition or a syndrome, not a disease.
People “have” Down syndrome, they do not “suffer from” it and are not “afflicted by” it.
“Typically developing” or “typical” is preferred over “normal. ”
“Intellectual disability” or “cognitive disability” has replaced “mental retardation” as the appropriate term.
NDSS strongly condemns the use of the word “retarded” in any derogatory context. Using this word is hurtful and suggests that people with disabilities are not competent.

Down vs. Down’s

NDSS uses the preferred spelling, Down syndrome, rather than Down’s syndrome.
Down syndrome is named for the English physician John Langdon Down, who characterized the condition, but did not have it. An “apostrophe s” connotes ownership or possession.
While Down syndrome is listed in many dictionaries with both popular spellings (with or without an apostrophe s), the preferred usage in the United States is Down syndrome. The AP Stylebook recommends using “Down syndrome,” as well.

Downloadable versions of the Preferred Language Guide are available to print and distribute.

Citations

Citations:

Chorionic villus sampling. Mayo Clinic. https://www.mayoclinic.org/tests-procedures/chorionic-villus-sampling/about/pac-20393533. Published November 12, 2020. Accessed June 28, 2022.

de Graaf G, Buckley F, Skotko B. People living with Down syndrome in the USA: BIRTHS AND POPULATION. May 2022. https://go.dselink.net/us-population-factsheet.

Down syndrome. Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977. Published March 8, 2018. Accessed June 28, 2022.

Facts about Down syndrome. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Published April 6, 2021. Accessed June 28, 2022.

Facts about Down Syndrome | CDC

What is Down Syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

A flattened face, especially the bridge of the nose
Almond-shaped eyes that slant up
A short neck
Small ears
A tongue that tends to stick out of the mouth
Tiny white spots on the iris (colored part) of the eye
Small hands and feet
A single line across the palm of the hand (palmar crease)
Small pinky fingers that sometimes curve toward the thumb
Poor muscle tone or loose joints
Shorter in height as children and adults

How Many Babies are Born with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.¹

Types of Down Syndrome

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.² With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).² This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome. ² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.
One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. ^3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.^6,7

Diagnosis

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e. g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

Chorionic villus sampling (CVS)—examines material from the placenta
Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Treatments

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

Other Resources

The views of these organizations are their own and do not reflect the official position of CDC.

Down Syndrome Research Foundation (DSRF)
DSRF initiates research studies to better understand the learning styles of those with Down syndrome.
Global Down Syndrome Foundation
This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advocacy.
National Association for Down Syndrome
The National Association for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
National Down Syndrome Society (NDSS)
NDSS seeks to increase awareness and acceptance of those with Down syndrome.

References

Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Birth Defects Research. 2019; 111(18): 1420-1435.
Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
Allen EG, Freeman SB, Druschel C, et al. Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
Ghosh S, Feingold E, Dey SK. Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.
Adams MM, Erickson JD, Layde PM, Oakley GP. Down’s syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.
Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 Nov;16(11):991-1002.
Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.

Dr. Nikulin explained why children with Down syndrome are born

Lifestyle

Photo: pixabay.ru

Every pregnant woman wants to know as soon as possible that her child is all right. One of the congenital pathologies that can be diagnosed in a baby in the womb is Down syndrome.

Why do children suffer from this syndrome at all? How to diagnose it and is it possible to protect the child from the threat? How to help a child with Down Syndrome? Discussed with an expert.

Candidate of Medical Sciences, Associate Professor of the Department, Director of the Medical Department of the Chromolab Research and Laboratory Complex

What is Down Syndrome

Down Syndrome is a genetic disease caused by the presence of an extra 21st chromosome. Most often manifested by the following symptoms and diseases:

Mental retardation;
Heart disease;
Developmental disorders;
Malfunction of the thyroid gland;
Hearing and vision problems.

Children with Down syndrome usually develop more slowly than normal. They begin to sit, crawl and walk about half as long as normally developing children. Also, "sunny" kids have a moderate degree of mental retardation.

The son of actress Evelina Bledans Semyon was born with Down syndrome0002 There are 23 pairs of chromosomes in the human chromosome set. In this case, one chromosome from the pair comes from the mother, one from the father. There are 46 chromosomes in the body. The cause of Down syndrome is anomaly of the 21st chromosome , which is characterized by the presence of additional copies of genetic material on the 21st chromosome in the form of a trisomy or translocation.

The 21st chromosome affects almost all organ systems and is responsible for the traits and developmental features that are impaired in Down syndrome.

Trisomy on the 21st chromosome implies the presence of a copy of this chromosome. That is, instead of two chromosomes, the 21st pair is represented by three. Thus, in all cells of the body there are three chromosomes of the 21st pair instead of two.

Trisomy occurs when cell division is disturbed during the formation of germ cells (spermatozoa and eggs) of the parents.

Almost always, an extra chromosome is passed on to a child with Down syndrome from the mother. As the age of the mother increases, the risk of having a child with Down syndrome increases. Than The older the egg, the greater the chance of abnormal cell division. Thus, Down's syndrome is caused by a defect in cell division during the development of an egg, sperm, or fetus.

Down syndrome is not a hereditary disease

Down syndrome is not a hereditary disease, although there is a predisposition to its development. Women with Down syndrome have a 50% chance of having a sick child, and spontaneous abortions often occur. Men with Down syndrome are infertile, except for the mosaic variant of the syndrome.

Carriers of a genetic chromosome translocation will also be more likely to have a child with Down syndrome.

Who is at risk:

Women with Down syndrome (we recall that men with Down syndrome are usually infertile).
Mothers after 30 years. With age, the risk of giving birth to a child with Down syndrome increases: by the age of 35 it is 1 in 400, by 45 - 1 in 35. However, approximately 80% of children with Down syndrome are born to mothers under the age of 35.
Fathers over 42.
Carriers of genetic chromosome translocation. If the mother is the carrier, the risk of having a child with Down syndrome is about 10-30%, if the father is about 5%.
Parents who already have a child with Down syndrome. The risk of having another child with this disease is approximately 1%.

Another important point: the rate of intrauterine death of fetuses with Down syndrome is about 30% between 12 and 40 weeks of pregnancy, and about 20% - between 16 and 40 weeks of pregnancy; only 50% with DM are live births.

How to recognize Down syndrome

In newborns and children, the diagnosis is made on the basis of a characteristic clinical picture. Down syndrome is suspected based on the presence of appearance features characteristic of this disease. The diagnosis is confirmed by karyotyping - a study of the child's chromosomes for abnormalities.

Pregnant women are also prescribed tests aimed at detecting Down syndrome in the fetus in the first and second trimester of pregnancy:

Prenatal screening is a complex of medical studies aimed at identifying risk groups for the development of fetal defects during pregnancy. The goal is the earliest and most accurate identification of high-risk groups for the birth of children with congenital malformations and hereditary diseases that require a more detailed analysis of the fetal condition.

Prenatal screening in first trimester of pregnancy includes:

Ultrasound examination to determine the thickness of the collar space.
Determination of the level of free human chorionic gonadotropin (free hCG), a hormone that is produced by the membrane of the embryo and is involved in maintaining pregnancy.
Pregnancy-associated plasma protein A (PAPP A). Abnormal levels of hCG and PAPP-A may indicate fetal developmental disorders.

Second trimester of pregnancy:

Ultrasound examination - allows to detect fetal developmental disorders.
Alpha-fetoprotein (alpha-FP) - low levels may indicate Down syndrome.
Beta subunit of human chorionic gonadotropin (beta hCG). An increase in the concentration of hCG in some cases is associated with a disease of the fetus.
Free estriol. Low estriol levels are a sign of Down syndrome.

Ultrasound results, PAPP-A, St. HCG, alpha-FP, hCG and free estriol, combined with data on the age and heredity of the mother using appropriate computer programs (PRISCA, Astraia, SSDWL, LifeCycl, Fastscreen), allow you to calculate the risk of having a baby with Down syndrome in a particular pregnant woman.

These studies are especially important for women who are at risk for having children with this disease. If the risk turned out to be very high, the following studies may be prescribed:

Amniocentesis - taking a sample of amniotic fluid and then examining the chromosomes of the fetus.
Chorionic biopsy - Obtaining a tissue sample from the chorion (the outer germinal membrane surrounding the embryo). Allows detection of chromosomal abnormalities.
Umbilical cord blood sampling - allows to detect chromosomal abnormalities. The test is performed if previous studies have been ineffective.

Treatment and prevention

There is no cure for Down syndrome, so therapy is directed at specific manifestations of the disease. If necessary, surgical operations are performed to treat heart defects, anomalies of the gastrointestinal tract, examinations are prescribed by a neurologist, cardiologist, ophthalmologist, defectologist, speech therapist, pediatrician.

Early treatment will maximize the development of children with Down syndrome and improve their quality of life. From birth, everything must be done for the full development of the child - to give him the opportunity to move, explore the world, socialize.

There are special preschool and school institutions where a program has been developed for children with an appropriate level of intelligence.

There is no prevention of the birth of babies with this syndrome either. People who are at risk of having a child with this disease are advised to undergo a genetic test during pregnancy planning.

Daughter of politician Irina Khakamada Maria Sirotinskaya was able to build a career as a fashion model and actress, despite the diagnosis

Photo: social networks

What causes "sunny" children

Children with Down syndrome may experience the following complications.

Heart defects. Approximately half of children with Down syndrome are born with heart defects that may require surgery in early childhood.
Leukemia (malignant disease of the hematopoietic system). Children with Down syndrome, especially at an early age, are more likely to develop leukemia than other children.
Infectious diseases . Due to disorders of the body's immune system, children with Down syndrome are more susceptible to infectious diseases.
Dementia. After the age of 40, Down's syndrome patients are at an increased risk of developing dementia.
Sleep apnea . Children with Down syndrome are prone to sleep apnea, a condition in which ventilation is interrupted for 20 to 30 seconds during sleep. In severe cases, sleep apnea can take up to 60% of a night's sleep. Regular sleep apnea leads to daytime sleepiness, memory impairment, decreased intelligence, performance and constant fatigue.
Obesity.

The life expectancy of people with Down syndrome depends on the severity of manifestations and averages 50 years or more.

Daria Gapionok

causes, symptoms, diagnosis, classification

Gynecologist

Temisheva

Yakha Akhmedovna

Experience 46 years

Obstetrician-gynecologist of the highest category, Ph.D.0003

Make an appointment

Among chromosomal pathologies, a special place is Down syndrome - one of the most common genetic disorders in newborns. Its main cause is a random genetic mutation, as a result of which a third extra chromosome appears in the 21st pair of chromosomes. The frequency of the phenomenon is approximately 1 case per 600-800 babies. A random mutation leaves its mark on the child's appearance already at the stage of intrauterine development, which greatly facilitates the diagnosis of Down syndrome by ultrasound.

Main causes

Modern medicine names two causes of the disease at once:

Mother's age. This is the main risk factor for Down syndrome. The older the pregnant woman, the higher the risk of having a child with a random genetic pathology. At the age of 30-40 years, the risk of a genetic failure is 1/1000, after 42 years - 1/60. The main factor is the aging of eggs, which are laid during the prenatal development of a girl and gradually lose their ability to form a genetically healthy fetus. The age of the father is also important - before or after 45 years, when the likelihood of having a baby with Down syndrome increases dramatically.
Hereditary factor. The cause of the development of the syndrome can be closely related marriages, the presence of a disease in one of the relatives of the child. Also important is the age of the grandmother, in which she gave birth to a daughter. The higher it is, the greater the risk of having a grandson with the syndrome.

It is important to remember that Down syndrome is recognized by specialists from all over the world as a random genetic mutation. It does not depend on the environmental situation, the level of radiation, the presence of hazardous production and other extraneous factors.

Characteristic external and other symptoms

People who are carriers of an extra chromosome have a characteristic appearance:

flat nose bridge;
Mongoloid incision of the eyes, because of which the pathology has the second name "Mongolism";
flat face and back of the head.

Also among the features are some lag in development and reduced immunity, which does not allow the body to resist external infections. All of the above is not a limiting factor. Today, special teaching methods have been developed for them from the first months of life. Subject to the activity of parents, children with Down syndrome symptoms can receive secondary education and a profession, become full-fledged members of society and start their own family.

Complications

Depending on the complexity of the form of Down syndrome, the patient may experience:

congenital heart defects;
frequent infectious diseases;
leukemia;
early onset of Alzheimer's disease;
cessation of breathing during sleep;
obesity, etc.

Diagnostics

Identification of a genetic anomaly is possible in the early stages of pregnancy:

Ultrasound screening at 11-13 weeks evaluates the size of the collar space and the size of the nasal bone of the fetus;
at the same time a blood test is performed to clarify the amount of chorionic hormone and plasma protein;
at later stages of pregnancy, fetal tissues are taken for genetic testing: amniocentesis, chorionic fiber biopsy or cordocentesis.

Because we are talking about a genetic failure, the treatment of Down syndrome consists only in monitoring the patient's state of health and correcting the complications of the underlying disease.

Prognosis for patients

Today, the average life expectancy with a genetic pathology is approaching 55-60 years, while a few decades ago they lived only up to 25 years due to unfavorable living conditions.

The probability of having a child with a genetic abnormality in a person with Down syndrome is about 35-50%. In addition, during the formation of the fetus in a pregnant woman with a disease, the unborn baby may experience other genetic failures.

At the same time, the risk of oncological diseases in such patients is reduced to zero. In addition, parents note the cordiality and invariably good mood of such children, their affection, responsiveness, the ability to easily make contact and not be offended by others.

Prophylaxis

It is not possible to completely eliminate the risk of having a child with a genetic pathology of the 21st pair of chromosomes. However, it is in the power of future parents to do everything possible to strengthen their own reproductive health and exclude chromosomal failure:

take care of your health, seek medical help in a timely manner to treat identified diseases;
lead a healthy and active lifestyle, play sports so that enough oxygen enters the eggs;
eat right, enriching the diet with healthy foods high in vitamins and microelements;
support the immune system;
watch your weight, because its deviation in any direction can cause hormonal failure and disruption of the process of maturation of germ cells;
undergo an ultrasound examination during pregnancy in a timely manner in order to identify a genetic failure in the fetus in the first weeks of intrauterine development.

Observation of patients with Down syndrome in JSC "Medicina" (clinic of Academician Roitberg) in Moscow

In JSC "Medicina" (clinic of academician Roitberg) there is a Center for working with special children. Pediatricians and specialized specialists of the clinic in the Central Clinical Hospital of Moscow are ready to work with patients with Down syndrome, regardless of their age and general condition of the body.

Patients are guaranteed an attentive and responsible attitude, an individual approach, confidentiality of personal data and the achievement of visible results of the prescribed treatment or prevention of Down syndrome. All the necessary diagnostic measures can be taken in the clinic to get quick and reliable results.

To make an appointment and additional consultations, you can call +7 (495) 775-73-60.

Frequently asked questions about the disease

How long do people with Down syndrome live?

The average life expectancy of patients with Down syndrome today is about 50 years, having increased by more than 2 times compared to the statistics of the middle of the last century. The life span is affected by the presence of complications in the body caused by a genetic failure, living conditions, heredity, etc. Subject to qualified medical supervision, the life expectancy of patients can be extended and made more comfortable.

How to identify the disease during pregnancy?

To clarify the risk of developing a fetus with a genetic abnormality, you can use ultrasound in early pregnancy, as well as a laboratory blood test for the content of proteins and hormones in the body of the expectant mother. If there are serious suspicions of a genetic failure at a later date, the fetal biomaterial obtained by biopsy or amniotic fluid sampling is examined.

Is there a cure for Down syndrome?

Modern medicine is not able to correct the consequences of the formation of the third chromosome. Therefore, she faces several tasks: monitoring pregnancy, timely detection of complications in a patient with the syndrome and their correction. It is possible to partially eliminate the consequences of the disease with the help of special training programs and physical activity of a child with Down syndrome, whose body is prone to overweight.

Welcome

Find us on iTunes!

Popular Posts