Diagnostic testing for down syndrome

Down syndrome - Diagnosis and treatment

Diagnosis

The American College of Obstetricians and Gynecologists recommends offering the option of screening tests and diagnostic tests for Down syndrome to all pregnant women, regardless of age.

Screening tests can indicate the likelihood or chances that a mother is carrying a baby with Down syndrome. But these tests can't tell for sure or diagnose whether the baby has Down syndrome.
Diagnostic tests can identify or diagnose whether your baby has Down syndrome.

Your health care provider can discuss the types of tests, advantages and disadvantages, benefits and risks, and the meaning of your results. If appropriate, your provider may recommend that you talk to a genetics counselor.

Screening tests during pregnancy

Screening for Down syndrome is offered as a routine part of prenatal care. Although screening tests can only identify your risk of carrying a baby with Down syndrome, they can help you make decisions about more-specific diagnostic tests.

Screening tests include the first trimester combined test and the integrated screening test.

The first trimester combined test

The first trimester combined test, which is done in two steps, includes:

Blood test. This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.
Nuchal translucency test. During this test, an ultrasound is used to measure a specific area on the back of your baby's neck. This is known as a nuchal translucency screening test. When abnormalities are present, more fluid than usual tends to collect in this neck tissue.

Using your age and the results of the blood test and the ultrasound, your doctor or genetic counselor can estimate your risk of having a baby with Down syndrome.

Integrated screening test

The integrated screening test is done in two parts during the first and second trimesters of pregnancy. The results are combined to estimate the risk that your baby has Down syndrome.

First trimester. Part one includes a blood test to measure PAPP-A and an ultrasound to measure nuchal translucency.
Second trimester. The quad screen measures your blood level of four pregnancy-associated substances: alpha fetoprotein, estriol, HCG and inhibin A.

Diagnostic tests during pregnancy

If your screening test results are positive or worrisome, or you're at high risk of having a baby with Down syndrome, you might consider more testing to confirm the diagnosis. Your health care provider can help you weigh the pros and cons of these tests.

Diagnostic tests that can identify Down syndrome include:

Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes. This test is typically performed in the first trimester, between 10 and 13 weeks of pregnancy. The risk of pregnancy loss (miscarriage) from a CVS is very low.
Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother's uterus. This sample is then used to analyze the chromosomes of the fetus. Doctors usually perform this test in the second trimester, after 15 weeks of pregnancy. This test also carries a very low risk of miscarriage.

Preimplantation genetic diagnosis is an option for couples undergoing in vitro fertilization who are at increased risk of passing along certain genetic conditions. The embryo is tested for genetic abnormalities before it's implanted in the womb.

Diagnostic tests for newborns

After birth, the initial diagnosis of Down syndrome is often based on the baby's appearance. But the features associated with Down syndrome can be found in babies without Down syndrome, so your health care provider will likely order a test called a chromosomal karyotype to confirm diagnosis. Using a sample of blood, this test analyzes your child's chromosomes. If there's an extra chromosome 21 in all or some cells, the diagnosis is Down syndrome.

More Information

Amniocentesis
Chorionic villus sampling
Cordocentesis
Genetic testing
Ultrasound

Treatment

Early intervention for infants and children with Down syndrome can make a major difference in improving their quality of life. Because each child with Down syndrome is unique, treatment will depend on individual needs. Also, different stages of life may require different services.

Team care

If your child has Down syndrome, you'll likely rely on a team of specialists that can provide medical care and help him or her develop skills as fully as possible. Depending on your child's particular needs, your team may include some of these experts:

Primary care pediatrician to coordinate and provide routine childhood care
Pediatric cardiologist
Pediatric gastroenterologist
Pediatric endocrinologist
Developmental pediatrician
Pediatric neurologist
Pediatric ear, nose and throat (ENT) specialist
Pediatric eye doctor (ophthalmologist)
Audiologist
Speech pathologist
Physical therapist
Occupational therapist

You'll need to make important decisions about your child's treatment and education. Build a team of health care providers, teachers and therapists you trust. These professionals can help evaluate the resources in your area and explain state and federal programs for children and adults with disabilities.

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Coping and support

When you learn your child has Down syndrome, you may experience a range of emotions, including anger, fear, worry and sorrow. You may not know what to expect, and you may worry about your ability to care for a child with a disability. The best antidote for fear and worry is information and support.

Consider these steps to prepare yourself and to care for your child:

Ask your health care provider about early intervention programs in your area. Available in most states, these special programs offer infants and young children with Down syndrome stimulation at an early age (typically until age 3) to help develop motor, language, social and self-help skills.
Learn about educational options for school. Depending on your child's needs, that may mean attending regular classes (mainstreaming), special education classes or both. With your health care team's recommendations, work with the school to understand and choose appropriate options.
Seek out other families who are dealing with the same issues. Most communities have support groups for parents of children with Down syndrome. You can also find internet support groups. Family and friends can also be a source of understanding and support.
Participate in social and leisure activities. Take time for family outings and look in your community for social activities such as park district programs, sports teams or ballet classes. Although some adaptations may be required, children and adults with Down syndrome can enjoy social and leisure activities.
Encourage independence. Your child's abilities may be different from other children's abilities, but with your support and some practice your child may be able to perform tasks such as packing lunch, managing hygiene and dressing, and doing light cooking and laundry.
Prepare for the transition to adulthood. Opportunities for living, working, and social and leisure activities can be explored before your child leaves school. Community living or group homes, and community employment, day programs or workshops after high school require some advance planning. Ask about opportunities and support in your area.

Expect a bright future. Most people with Down syndrome live with their families or independently, go to mainstream schools, read and write, participate in the community, and have jobs. People with Down syndrome can live fulfilling lives.

By Mayo Clinic Staff

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Prenatal Testing for Down Syndrome | Patient Education

Down syndrome is a genetic condition caused by extra genes from the 21st chromosome. It results in certain characteristics, including some degree of cognitive disability and other developmental delays. Common physical traits include an upward slant of the eyes; flattened bridge of the nose; single, deep crease on the palm of the hand; and decreased muscle tone. A child with Down syndrome, however, may not have all these traits.

The incidence of Down syndrome in the United States is about 1 in 1,000 births. There is no association between Down syndrome and culture, ethnic group, socioeconomic status or geographic region.

Age-Related Risks

Generally, the chance of having a Down syndrome birth is related to the mother's age. Under age 25, the odds of having a child with Down syndrome are about 1 in 1,400. At age 35, the odds are about 1 in 350. At age 40, the odds are about 1 in 100.

Causes of Down Syndrome

There are three causes of Down syndrome:

Trisomy 21

An estimated 95 percent of people with Down syndrome have trisomy 21, meaning they have three number 21 chromosomes instead of two. We normally have 23 pairs of chromosomes, each made up of genes. During the formation of the egg and the sperm, a woman's or a man's pair of chromosomes normally split so that only one chromosome is in each egg or sperm. In trisomy 21, the 21st chromosome pair does not split and a double dose goes to the egg or sperm. An estimated 95 to 97 percent of the extra chromosome is of maternal origin.

Translocation

Translocation occurs in about 3 to 4 percent of people with Down syndrome. In this type, an extra part of the 21st chromosome gets stuck onto another chromosome. In about half of these situations, one parent carries the extra 21st chromosome material in a "balanced" or hidden form.

Mosaicism

In mosaicism, the person with Down syndrome has an extra 21st chromosome in some of the cells but not all of them. The other cells have the usual pair of 21st chromosomes. About 1 to 2 percent of people with Down syndrome have this type.

Prenatal Testing

Screening tests can identify women at increased risk of having a baby with Down syndrome. These tests have no risks of miscarriage, but can't determine with certainty whether a fetus is affected. Diagnostic tests, on the other hand, are extremely accurate at identifying certain abnormalities in the fetus, but carry a small — generally less than 1 percent — risk of miscarriage. We offer options for both screening and diagnostic testing.

Screening Tests

Sequential Integrated Screening — Sequential integrated screening is offered to all pregnant women by the state of California. This non-invasive screening is performed in two steps.

In the first step, which is performed between 10 and 14 weeks of pregnancy, a blood sample is taken from the mother and a nuchal translucency ultrasound is performed to measure the amount of fluid at the back of the baby's neck. If the blood test is scheduled prior to the ultrasound, we can provide the results at the end of the ultrasound appointment. The results of the blood test, the nuchal translucency measurement and the mother's age are used to estimate the risk for Down syndrome and trisomy 18.

The second step is a maternal blood test between 15 to 20 weeks of pregnancy. When the results of this blood test are combined with the results from the first trimester blood test and nuchal translucency ultrasound, the detection rate for Down syndrome increases. This test also provides a personal risk assessment for having a fetus with trisomy 18, Smith-Lemli-Opitz syndrome, an open neural tube defect or an abdominal wall defect.

Diagnostic Tests

Amniocentesis, chorionic villus sampling (CVS) and ultrasound are the three primary procedures for diagnostic testing.

Amniocentesis — Amniocentesis is used most commonly to identify chromosomal problems such as Down syndrome. When the fetus is known to be at risk, it can detect other genetic diseases like cystic fibrosis, Tay-Sachs disease and sickle cell disease.

An amniocentesis procedure for genetic testing is typically performed between 15 and 20 weeks of pregnancy. Under ultrasound guidance, a needle is inserted through the abdomen to remove a small amount of amniotic fluid. The cells from the fluid are then cultured and a karyotype analysis — an analysis of the chromosomal make-up of the cells — is performed. It takes about two weeks to receive the results of the test.

Amniocentesis detects most chromosomal disorders, such as Down syndrome, with a high degree of accuracy. Testing for other genetic diseases, such as Tay-Sachs disease, is not routinely performed but can be detected through specialized testing if your fetus is known to be at risk. Testing for neural tube defects, such as spina bifida, also can be performed.

There is a small risk of miscarriage as a result of amniocentesis — about 1 in 100 or less. Miscarriage rates for procedures performed at UCSF Medical Center are less than 1 in 350.

Chorionic Villus Sampling (CVS) — Like amniocentesis, chorionic villus sampling is used most commonly to identify chromosomal problems such as Down syndrome. It can detect other genetic diseases like cystic fibrosis, Tay-Sachs disease and sickle cell disease in at-risk fetuses. The main advantage of CVS over amniocentesis is that it is done much earlier in pregnancy, at 10 to 12 weeks rather than 15 to 20 weeks.

CVS involves removing a tiny piece of tissue from the placenta. Under ultrasound guidance, the tissue is obtained either with a needle inserted through the abdomen or a catheter inserted through the cervix. The tissue is then cultured and a karyotype analysis of the chromosomal make-up of the cells is performed. It takes about two weeks to receive the results.

The advantage of CVS over amniocentesis is that the test is performed much earlier in pregnancy, so results are typically available by the end of the third month. A disadvantage is that spinal cord defects cannot be detected. Expanded alpha fetoprotein (AFP) blood testing or ultrasound can be performed later in the pregnancy to screen for spinal cord defects.

There is a small risk of miscarriage as a result of CVS — 1 in 100 or less. Miscarriage rates for procedures performed at UCSF Medical Center are less than 1 in 350.

Ultrasound — The primary purpose of ultrasound is to determine the status of a pregnancy — the due date, size of the fetus and if the mother is carrying multiples. Ultrasound also can provide some information about possible birth defects in a fetus. All patients at UCSF Medical Center undergo a comprehensive ultrasound examination before any invasive tests are performed. Results of the ultrasound are explained at the time of the visit.

In some patients, an ultrasound raises concern of a possible abnormality in the fetus. We have extensive experience in performing and interpreting ultrasounds in pregnancy.

If You Receive a Positive Result

If you receive positive results on a screening test, we recommend that you discuss this with your doctor and a genetic counselor. Options for further diagnostic testing will be explained. The decision as to whether to have invasive genetic testing is up to you.

If a diagnostic test finds a genetic abnormality, the significance of such results should be discussed with experts familiar with the condition, including a medical geneticist and a genetic counselor, as well as your own doctor.

Down syndrome - treatment, symptoms, causes, diagnosis.

Medical Center Neuro-Clinic

Correction and treatment of Down syndrome

It is currently impossible to cure a chromosomal abnormality, however, systematic medical supervision and corrective care for children with Down syndrome make it possible to achieve success in their development, socialization and acquisition of labor skills.

Most people with Down's syndrome have intellectual disabilities - usually mild or moderate mental retardation. The motor development of children with Down syndrome lags behind their peers; there is also a systemic underdevelopment of speech. Our medical center has developed unique rehabilitation schemes for children with Down syndrome, which are aimed at treating mental retardation and speech development delay.

To stimulate and develop mental functions, we use the method of bioacoustic correction of the brain, physiotherapy, exercise therapy, transcranial micropolarization.

In combination with biofeedback (BFB) training.

For the development of psycho-speech and communication skills, children with Down syndrome need classes with a neuropsychologist, a speech therapist.

An important role is played by the psychological and pedagogical support of families where "sunny children" are brought up.

In all cases, children with Down syndrome belong to the category of children with special educational needs, so they need additional help from teachers and social educators, the use of special educational programs, and the creation of a favorable and safe environment.

Forecast and prevention of Down syndrome

Learning and socialization opportunities for people with Down syndrome are different; they largely depend on the intellectual abilities of children and on the efforts made by parents and teachers. In most cases, children manage to instill the minimum household and communication skills necessary in everyday life. At the same time, cases of success of such patients in the field of fine arts, acting, sports, as well as higher education are known. Adults with Down syndrome can lead an independent life, master simple professions, and create families. We can speak about the prevention of Down syndrome only from the standpoint of reducing possible risks, since the probability of having a sick child exists in any couple. Obstetrician-gynecologists advise women not to delay pregnancy until a later age. Predicting the birth of a child with Down syndrome is intended to help genetic counseling of families and the system of prenatal screening.

Risk factors for the birth of children with Down syndrome

The birth of a child with Down syndrome is not related to the lifestyle, ethnicity and region of residence of the parents. The only reliably established factor that increases the risk of having a child with Down syndrome is the age of the mother. So, if in women under 25 the probability of having a sick child is 1:1400, by the age of 35 it is already 1:400, by the age of 40 - 1:100; and by 45 - 1:35. First of all, this is due to a decrease in control over the process of cell division and an increase in the risk of chromosome nondisjunction. However, since the frequency of childbirth in young women is generally higher, according to statistics, 80% of children with Down syndrome are born to mothers under the age of 35. According to some reports, the age of the father over 42-45 years also increases the risk of developing Down syndrome in a child.

It is known that if one of the identical twins has Down syndrome, this pathology will be present in the other in 100% of cases. Meanwhile, in fraternal twins, as well as brothers and sisters, the probability of such a coincidence is negligible. Other risk factors include the presence of persons with Down syndrome in the family, the age of the mother under 18 years of age, the carriage of a translocation by one of the spouses, closely related marriages, random events that disrupt the normal development of germ cells or the embryo.

Thanks to pre-implantation diagnostics, conception with the help of ART (including in vitro fertilization) significantly reduces the risk of having a child with Down syndrome in parents from risk groups, but does not completely exclude this possibility.

Symptoms of Down syndrome

Carrying a fetus with Down syndrome is associated with an increased risk of miscarriage: spontaneous abortion occurs in about 30% of women for a period of 6-8 weeks. In other cases, children with Down syndrome, as a rule, are born full-term, but have moderately pronounced hypoplasia (body weight is 8-10% below average).

Most children with Down syndrome are characterized by typical external signs that suggest the presence of pathology already at the first examination of a newborn by a neonatologist.

Children with Down syndrome may have some or all of the physical characteristics described below.

80-90% of children with Down's syndrome have craniofacial dysmorphias: flattened face and bridge of the nose, brachycephaly, short wide neck, flat occiput, deformity of the auricles; newborns - a characteristic skin fold on the neck. The face is distinguished by a Mongoloid incision of the eyes, the presence of an epicanthus (a vertical fold of skin covering the inner corner of the eye), microgenia, a half-open mouth, often with thick lips, and a large protruding tongue (macroglossia). Muscle tone in children with Down syndrome is usually reduced; there is hypermobility of the joints (including atlanto-axial instability), deformity of the chest (keeled or funnel-shaped).

Characteristic physical signs of Down's syndrome are short limbs, brachydactyly (brachymesophalangia), curvature of the little finger (clinodactyly), transverse ("monkey") fold in the palm, a wide distance between 1 and 2 toes (sandal-like gap), etc. When examining children with Down syndrome, white spots are detected along the edge of the iris (Brushfield spots), Gothic (arched palate), malocclusion, furrowed tongue.

With the translocation variant of Down's syndrome, external signs are more pronounced than with simple trisomy. The severity of the phenotype in mosaicism is determined by the proportion of trisomic cells in the karyotype.

Children with Down syndrome are more likely than others in the population to have CHD (open ductus arteriosus, VSD, ASD, tetralogy of Fallot, etc. ), strabismus, cataract, glaucoma, hearing loss, epilepsy, leukemia, gastrointestinal tract defects (esophageal atresia, stenosis and atresia of the duodenum, Hirschsprung disease), congenital dislocation of the hip. Typical dermatological problems of puberty are dry skin, eczema, acne, folliculitis.

Children with Down syndrome are frequently ill; they are more difficult to tolerate childhood infections, more often suffer from pneumonia, otitis media, acute respiratory viral infections, adenoids, tonsillitis. Weak immunity and congenital malformations are the most likely cause of death in children in the first 5 years of life.

Down syndrome patients are prone to developing obesity, constipation, hypothyroidism, alopecia areata, testicular cancer, early onset Alzheimer's disease, etc. Men with Down syndrome are usually infertile; female fertility is markedly reduced due to anovulatory cycles. The height of adult patients is usually 20 cm below average. Life expectancy is about 50-60 years.

Diagnosis of Down's syndrome

For prenatal detection of Down's syndrome in the fetus, a system of prenatal diagnosis has been proposed. Screening of the first trimester is carried out at a gestational age of 11-13 weeks and includes the identification of specific ultrasound signs of anomalies and the determination of the level of biochemical markers (hCG, PAPP-A) in the blood of a pregnant woman. Between 15 and 22 weeks of pregnancy, second trimester screening is performed: obstetric ultrasound, maternal blood test for alpha-fetoprotein, hCG and estriol. Taking into account the woman's age, the risk of having a child with Down syndrome is calculated (accuracy - 56-70%; false positive results - 5%).

Pregnant women at risk of having a baby with Down syndrome are offered prenatal invasive diagnostics: chorionic biopsy, amniocentesis or cordocentesis with fetal karyotyping and consultation with a medical geneticist. Upon receipt of data for the presence of Down syndrome in a child, the decision on the prolongation or termination of pregnancy remains with the parents.

Newborns with Down's syndrome in the first days of life require echocardiography, abdominal ultrasound for early detection of congenital malformations of internal organs; examination by a pediatric cardiologist, pediatric surgeon, pediatric ophthalmologist, pediatric orthopedic traumatologist.

causes, symptoms, diagnosis, classification

Gynecologist

Temisheva

Yakha Akhmedovna

Experience 45 years

Obstetrician-gynecologist of the highest category, Ph.D. Among chromosomal pathologies, a special place is occupied by Down syndrome is 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 disease;
frequent infectious diseases;
leukemia;
early onset of Alzheimer's disease;
cessation of breathing during sleep;
obesity, etc.

Diagnosis

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;
timely undergo an ultrasound examination during pregnancy in order to identify a genetic failure in the fetus in the first weeks of intrauterine development.

Observation of patients with Down's 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.

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