How to treat down syndrome child

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Also called: Trisomy 21

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Down syndrome is a condition in which a person is born with an extra copy of chromosome 21. People with Down syndrome can have physical problems, as well as intellectual disabilities. Every person born with Down syndrome is different.

People with the syndrome may also have other health problems. They may be born with heart disease. They may have dementia. They may have hearing problems and problems with the intestines, eyes, thyroid, and skeleton.

The chance of having a baby with Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include speech, physical, occupational, and/or educational therapy. With support and treatment, many people with Down syndrome live happy, productive lives.

NIH: National Institute of Child Health and Human Development

About Down Syndrome (National Down Syndrome Society)
Down Syndrome (For Parents) (Nemours Foundation) Also in Spanish
Down Syndrome in Adults: Staying Healthy (American Academy of Family Physicians) Also in Spanish
Facts about Down Syndrome (Centers for Disease Control and Prevention) Also in Spanish
What is Down Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development)

What Are Common Symptoms of Down Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Alpha-fetoprotein (AFP) Test (National Library of Medicine) Also in Spanish
Down Syndrome Tests (National Library of Medicine) Also in Spanish
How Do Health Care Providers Diagnose Down Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

What Are Common Treatments for Down Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

ADHD and Down Syndrome (National Down Syndrome Society)
Alzheimer's Disease in People with Down Syndrome (National Institute on Aging)
Blood Diseases and Down Syndrome (National Down Syndrome Society)
Dental Issues and Down Syndrome (National Down Syndrome Society)
Down Syndrome: Eye Problems (American Association for Pediatric Ophthalmology and Strabismus)
Dual Diagnosis of Down Syndrome and Autism (National Down Syndrome Society)
Ear, Nose, and Throat (ENT) and Down Syndrome (National Down Syndrome Society)
Endocrine Conditions and Down Syndrome (National Down Syndrome Society)
Gastrointestinal System and Down Syndrome (National Down Syndrome Society)
Mental Health and Down Syndrome (National Down Syndrome Society)
Sleep and Down Syndrome (National Down Syndrome Society)
What Causes Down Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
What Conditions or Disorders Are Commonly Associated with Down Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

DS-Connect: The Down Syndrome Registry (Eunice Kennedy Shriver National Institute of Child Health and Human Development)
High Rates of Dementia, Alzheimer's Observed Among Older People with Down Syndrome (Eunice Kennedy Shriver National Institute of Child Health and Human Development)
Who Is at Risk for Down Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

ClinicalTrials. gov: Down Syndrome (National Institutes of Health)

Article: Is there a secular trend regarding puberty in children with down. ..
Article: Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain...
Article: Overexpression of RCAN1, a Gene on Human Chromosome 21, Alters Cell. ..
Down Syndrome -- see more articles

Centers for Disease Control and Prevention Also in Spanish
Eunice Kennedy Shriver National Institute of Child Health and Human Development Also in Spanish
March of Dimes Birth Defects Foundation Also in Spanish
National Down Syndrome Society

Down Syndrome (For Kids) (Nemours Foundation) Also in Spanish

Causes, Symptoms, Diagnosis, & Treatment

Written by WebMD Editorial Contributors

Medically Reviewed by Neha Pathak, MD on August 28, 2020

What Is Down Syndrome?

Down syndrome is a genetic condition that causes mild to serious physical and developmental problems.

People with Down syndrome are born with an extra chromosome. Chromosomes are bundles of genes, and your body relies on having just the right number of them. With Down syndrome, this extra chromosome leads to a range of issues that affect you both mentally and physically.

Down syndrome is a lifelong condition. Although it can’t be cured, doctors know more about it now than ever. If your child has it, getting the right care early on can make a big difference in helping them live a full and meaningful life.

Down Syndrome Symptoms

Down syndrome can have many effects, and it’s different for each person. Some will grow up to live almost entirely on their own, while others will need more help taking care of themselves.

Mental abilities vary, but most people with Down syndrome have mild to moderate issues with thinking, reasoning, and understanding. They’ll learn and pick up new skills their whole lives, but they may take longer to reach important goals like walking, talking, and developing social skills.

People with Down syndrome tend to have certain physical features in common. These may include:

Eyes that slant up at the outer corner
Small ears
Flat noses
Protruding tongue
Tiny white spots in the colored part of the eyes
Short neck
Small hands and feet
Short stature
Loose joints
Weak muscle tone

Many people with Down syndrome don’t have any other health issues, but some do. Common conditions include heart problems and trouble hearing and seeing.

Down Syndrome Causes and Risk Factors

For most people, each cell in your body has 23 pairs of chromosomes. One chromosome in each pair comes from your mother and the other comes from your father.

But with Down syndrome, something goes wrong and you get an extra copy of chromosome 21. That means you have three copies instead of two, which leads to the symptoms of Down syndrome. Doctors aren’t sure why this happens. There’s no link to anything in the environment or anything the parents did or didn’t do.

While doctors don’t know what causes it, they do know that women 35 and older have a higher chance of having a baby with Down syndrome. If you’ve already had a child with Down syndrome, you’re more likely to have another one who has it as well.

It’s not common, but it is possible to pass Down syndrome from parent to child. Sometimes, a parent has what experts call “translocated” genes. That means some of their genes aren’t in their normal place, perhaps on a different chromosome from where they’d usually be found.

The parent doesn’t have Down syndrome because they have the right number of genes, but their child may have what’s called “translocation Down syndrome.” Not everyone with translocation Down syndrome gets it from their parents -- it may also happen by chance.

Types of Down Syndrome

There are three types of Down syndrome:

Trisomy 21. This is by far the most common type, where every cell in the body has three copies of chromosome 21 instead of two.
Translocation Down syndrome. In this type, each cell has part of an extra chromosome 21, or an entirely extra one. But it’s attached to another chromosome instead of being on its own.
Mosaic Down syndrome. This is the rarest type, where only some cells have an extra chromosome 21.

You can’t tell what type of Down syndrome someone has just by how they look. The effects of all three types are very similar, but someone with mosaic Down syndrome may not have as many symptoms because fewer cells have the extra chromosome.

Down Syndrome Diagnosis

A doctor may suspect Down syndrome in a newborn based on the baby’s appearance. That can be confirmed by a blood test called a karyotype test that lines up the chromosomes and will show if there’s an extra chromosome 21.

Down Syndrome Screening in Pregnancy

Routine tests done during pregnancy can check if it’s likely your baby has Down syndrome. If those results are positive, or if you’re at high risk, you may choose to have additional, more invasive tests to be certain.

In the first trimester, you may have:

Blood tests. Your doctor will measure the levels of a protein called PAPP-A and a hormone called hCG in your blood. Anything out of the normal range could mean a problem with the baby. If you're at high risk for Down syndrome, they may also look for DNA from the baby in your blood, which they can examine for chromosome abnormalities.
Ultrasound. Your doctor will look at a picture of your baby and measure the folds of tissue at the back of their neck. Babies with Down syndrome tend to have extra fluid there.

In the second trimester, you may have:

Blood tests. Either a triple or quad-screen test measures other substances in your blood, including the protein AFP and the hormone estriol. Those levels, combined with the results from the first trimester tests, give your doctor a good estimate of the chances your baby has Down syndrome.
Ultrasound. When your baby is more developed, an enhanced ultrasound can show some of the physical features of Down syndrome.

Other kinds of tests can diagnose Down syndrome before your baby is born by checking a sample of their DNA for an extra chromosome 21:

Chorionic villus sampling (CVS). This can be done during the first trimester, using cells taken from the placenta.
Amniocentesis. Fluid is taken from the amniotic sac surrounding the baby, usually during the second trimester.
Percutaneous umbilical blood sampling (PUBS). This is also done in the second trimester using blood removed from the umbilical cord.

Down Syndrome Treatments

There’s no specific treatment for Down syndrome. But there is a wide range of physical and developmental therapies designed to help people with Down syndrome reach their full potential. The earlier you start them, the better. Each child will have different needs. Yours may benefit from:

Physical, occupational, and speech therapy
Specialized education services
Social and recreation activities
Programs that offer job training and teach self-care skills

You’ll also work closely with your child’s doctor to watch for and manage any health problems associated with the condition.

Down Syndrome Complications

Babies with Down syndrome may be born with other physical problems, and they’re at higher risk for certain health issues later in life.

Possible complications of Down syndrome include:

Heart problems. About half of babies with Down syndrome are born with a heart defect that may need surgery.
Hearing and vision problems, including crossed eyes and cataracts
Gastrointestinal disorders, like blockages, reflux, and celiac disease
Obesity
Breathing issues, including sleep apnea, asthma, and pulmonary hypertension
Underactive thyroid
Seizures
Childhood leukemia
Early-onset dementia

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Symptoms

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.

Children with Down syndrome: causes and treatment

Down syndrome is the most common genomic anomaly.

Rehabilitation of children with Down syndrome

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According to statistics, every 700-800th child on the planet is born with Down syndrome.

This ratio is the same and does not depend on the country, nationality, lifestyle, social class, smoking and health of parents.

The sex of the child is also not associated with the risk of Down syndrome. Similar phenomena are found in wild and domestic animals.

Previously, Down's syndrome was considered a disease, since there was no modern knowledge about genetic abnormalities in 1866. It was in this year that the syndrome was first described by the British physician John Langdon Down.

The essence of the syndrome is determined by the presence of an additional chromosome in human cells. In the process of the emergence of a new life, after the fusion of male and female germ cells, one cell is formed from them. The number of chromosomes of the new cell doubles and reaches 46: 23 of them belong to the mother cell and 23 to the father. People with Down syndrome have an extra chromosome in the 21st pair. It appears as a result of an unpredictable accident, after which the cells turn out to have not 46, but 47 chromosomes.

Parents of children with Down syndrome have a standard set of chromosomes. Neither father, nor mother, nor other relatives are to blame for the fact that a child has an extra chromosome - this is an unpredictable natural process.

Does Down Syndrome Rehabilitation Help?

Down syndrome is not a disease because it cannot be cured. But the presence of this genomic anomaly leads to the appearance of specific external features, can cause malformations of internal organs (for example, heart disease).

A child with Down syndrome has shorter legs and arms and is more difficult to control due to congenital low muscle tone.

If you properly deal with a child, he will go through all the stages of development of an ordinary child - he will learn to walk, talk, dress, go to school and college.

Although this will be slower and require some effort.

For those countries where the rehabilitation of children with Down syndrome and early intervention is well developed, it is not surprising that such people have higher education. So dementia and down syndrome is not synonymous with , a lot depends on proper early rehabilitation.

What methods of rehabilitation will help the development of a child with Down syndrome?

First of all - complex rehabilitation by a team of specialists, and not massage and exercise therapy without a specific goal.

physical therapy, to teach the child to move correctly;
occupational therapy, so that he can start playing and take care of himself;
defectologist-speech therapist, for the child to start speaking and writing;
psychologist, to teach how to communicate with parents and other people.

The doctor will examine the child, help identify problems with the heart, spine, feet and blood vessels that occur with Down syndrome.

It is important that individual methods are prescribed for the specific purpose of the development of the child, and that the entire rehabilitation plan is agreed between specialists.