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Down Syndrome (for Parents) - Nemours KidsHealth

What Is Down Syndrome?

Down syndrome is a condition in which a baby is born with an extra

chromosomenumber 21. The extra chromosome is associated with delays in the child’s mental and physical development, as well as an increased risk for health problems.

The physical features and medical problems linked to Down syndrome can vary widely from child to child. While some kids need a lot of medical attention, others lead healthy lives.

Down syndrome, also called trisomy 21, happens by chance, can’t be prevented, and isn’t caused by anything a parent did or didn't do. Fortunately, the health problems can be managed well, especially when found early, and many resources are available to help kids and their families.

What Causes Down Syndrome?

A baby inherits genetic information from its parents in 46 chromosomes, typically 23 from the mother and 23 from the father. Chromosomes hold our genes, which carry the information that determine how our bodies look and work, including traits from our relatives like hair and eye color.

In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. Rarely, the extra chromosome 21 attaches to another chromosome. This extra genetic material causes the physical features and developmental delays in people with Down syndrome. The features are no different if the extra chromosome is by itself or attached to another one.

How Can Down Syndrome Affect Kids?

Kids with Down syndrome often have similar physical features, such as a flat facial profile, an upward slant to the eyes, small ears, and a tongue that tends to stick out.

Low muscle tone (called hypotonia) is also common in kids with Down syndrome but is less obvious as they get older. Children will reach developmental milestones, like sitting up, crawling, and walking, though typically later than other kids do. Low muscle tone may also contribute to sucking and feeding problems during early childhood, as well as gastroesophageal reflux and constipation.

At birth, babies with Down syndrome are often smaller than other newborns, and they tend to grow at a slower rate and remain shorter than their peers. Toddlers and older kids may have delays in speech and self-care skills like feeding, dressing, and using the toilet.

Down syndrome affects kids' ability to learn in different ways, and most have mild to moderate intellectual disability. Kids can and do learn, and they can develop skills throughout their lives. They just reach goals at a different pace. So it is important to remember that each child with Down syndrome will gain skills in their own time and to not compare them to their typical peers or even kids with the same condition.

Kids with Down syndrome have a wide range of abilities, and there's no way to tell at birth what they can do as they grow up.

What Medical Problems Can Happen With Down Syndrome?

Some kids with Down syndrome have no serious health problems. But others may have medical issues that need extra care. Many go to clinics that specialize in caring for people with Down syndrome. If you don’t have a Down syndrome clinic in your area, your primary care doctor can help coordinate care for your child.

Almost half of all children born with Down syndrome will have a congenital heart defect. All newborns with Down syndrome should be checked for this with a specialized ultrasound for the heart (echocardiogram).

About half of all kids also have problems with hearing and vision. Hearing loss can be related to fluid buildup in the inner ear or to structural problems of the ear itself. Vision problems commonly include strabismus (eyes do not track together), nearsightedness or farsightedness, and cataracts.

Vison and hearing problems can affect language and learning. Regular checkups by an otolaryngologist (ear, nose, and throat doctor), audiologist, and an ophthalmologist can find and manage any problems.

Children may need to see other medical specialists, depending on their needs. Medical problems that happen more often with Down syndrome include:

• thyroid problems (usually hypothyroidism)
• stomach and intestinal problems, including celiac disease, reflux, and constipation
• seizures
• breathing problems, including sleep apnea and asthma 
• obesity
• infections, including ear infections and pneumonia
• childhood leukemia

People with Down syndrome sometimes have an unstable upper spine (neck) and should be checked by a doctor every year or sooner if they have symptoms, such as neck pain, changes to their walking, or unexpected loss of bladder or bowel control. Some children may need neck X-rays before playing some sports or before getting anesthesia.

How Is Down Syndrome Diagnosed?

Two types of prenatal tests can look for Down syndrome in a fetus:

• Screening tests estimate the chances that a fetus has Down syndrome.
• Diagnostic tests can tell if the fetus does have the condition.

Screening tests are cost-effective and easy to do. But they don't give a definitive answer about whether a baby has Down syndrome. So these tests are used to help parents decide whether to have more diagnostic tests.

Diagnostic tests accurately diagnose Down syndrome and other chromosomal problems. But because this involves getting some of the baby’s cells while still inside the uterus, there is a risk of miscarriage and other complications.

If you're unsure about which test, if any, is right for you, your doctor or a genetic counselor can help you sort through the pros and cons of each.

Screening tests include:

• nuchal translucency testing: This test is done between weeks 11–14 of pregnancy. It uses ultrasound to measure the clear space in the folds of tissue behind a developing baby's neck. Babies with Down syndrome and other chromosomal problems tend to have fluid buildup there, making the space look larger. To calculate the odds that the baby has Down syndrome, doctors use this measurement, along with the mother's age (the risk for a baby to have Down syndrome increases with the mother’s age), and the baby's gestational age.
• the triple screen or quadruple screen (also called the multiple marker screen)
• integrated screen: This uses results from first-trimester screening tests (with or without nuchal translucency) and blood tests with a second trimester quadruple screen to come up with the most accurate screening results.
• an ultrasound
• cell-free fetal DNA analysis: This test analyzes fetal DNA found in the mother’s blood. It can be done in the first trimester and is more sensitive at finding trisomy 21 than standard the screening tests noted above.

Diagnostic tests include:

• chorionic villus sampling (CVS)
• amniocentesis
• percutaneous umbilical blood sampling (PUBS) or cordocentesis

If the doctor suspects Down syndrome after a baby is born, a karyotype test (chromosome analysis) can confirm the diagnosis. This is typically done on a blood sample and the chromosomes are grouped by size, number, and appearance to look for differences.

How Can Parents Help?

If your child has Down syndrome, you may at first have feelings of loss, guilt, and fear of the unknown. Talking with other parents of kids with Down syndrome may help you deal with your concerns and find ways to look toward the future. Many parents find that learning as much as they can about the condition helps ease fears.

Children with Down syndrome benefit from getting early intervention services as soon as possible. Physical therapy, occupational therapy, and speech/feeding therapy can help, and early childhood educators can work with your child to encourage and boost development.

States provide early intervention services to kids with disabilities from birth to age 3. Check with a health care provider — a doctor, nurse, developmental pediatrician, or a social worker — to find resources in your area.

When kids with Down syndrome turn 3 years old, they’re guaranteed educational services under the Individuals with Disabilities Education Act (IDEA). Under IDEA, local school districts must provide "a free appropriate education in the least restrictive environment" and an individualized education program (IEP) for each child.

Where to send your child to school can be a hard decision. The needs of some kids with Down syndrome are best met in a specialized program. But many kids with Down syndrome go to a typical school and enjoy the same activities as other kids their age. Being in a regular classroom (known as inclusion), when appropriate, is good for both the child with Down syndrome and the other kids.

A few kids with Down syndrome go on to college. Many transition to semi-independent living. Others continue to live at home but hold jobs and find their own success in the community.

Your school district's child study team can work with you to find what's best for your child. All decisions about your child’s education should involve your input, as you are your child's best advocate.

You also can find more information and support online at:

• National Down Syndrome Society
• The Global Down Syndrome Foundation

Reviewed by: Nina Powell-Hamilton, MD

Date reviewed: February 2022

5 misconceptions about children with Down syndrome

What stereotypes exist about children with trisomy 21 - Down syndrome, Elizaveta Kovaleva told on Facebook. She is the mother of two-year-old boy Miki. Like many parents of children with Down syndrome, Elizabeth strives to resist delusions and dreams that such children live in a society where people who are somewhat different from the "norm" would have the same rights and opportunities as the rest. "Mel" publishes the text of Elizabeth in full.

1. These children are all sunny, they never cry and are always happy

This is, of course, as far from the truth as that the sun is black. Mika has all the same emotions as the rest of the children. He knows how to be very offended by lowering his lower lip, and he can even go to another room if he is completely offended. He often cries if something does not work out, or throws tantrums when you try to pick him up from the playground and from his favorite swing. Yes, like other children, he is very joyful and sunny when everything is fine and he is happy, but he can also be darker than clouds. When teeth are coming in, it can generally whine all day long and there is no smell of "sunshine" here.

2. These children love everyone

It's not. Mika often does not fall into the hands of many people, even relatives are often wary. Some people take a long time to get used to. For example, in kindergarten, I didn’t even take any food from the teacher for the first few months. Didn't trust. So not everyone is loved.

3. It is very difficult for these children to memorize and learn something

I noticed that Mika memorizes the information that is interesting and important to him literally all at once. That is, if he likes any game, then he quickly understands what is needed from him. Or, for example, he remembered the way from home to his favorite playground, when he was not even two years old, he runs there ahead of me.

4. They always need help with everything

Yes, this is true in many ways, Mika often needs more help to learn than children with 46 chromosomes. But more help does not mean that help will be needed forever and ever. Mika is now 2 and a half years old. He already eats and drinks by himself, dresses with my help, but he already puts on a lot of things himself, plays well and watches books for quite a long time. I generally keep quiet about the knowledge of the tablet. Here he is better than me. He opens his favorite games himself, switches between applications and perfectly performs all games from guessing words (he knows the names of vehicles, animals and musical instruments best of all) to collecting puzzles from a large number of parts, knows colors and sorts them perfectly.

5. These children are sick

Unfortunately, this year I heard such a wording. What can I say. I have already written before that the syndrome is not a disease, it cannot be caught or cured. A syndrome is a set of features. Moreover, it is different for each person with the syndrome. Everyone has their strengths and weaknesses. And yes, immunity in children with trisomy is often much weaker than in "normal" children, they get sick more often. Mika got sick a lot of times in the past year. But he did not suffer from the syndrome, he does not have such a disease. He just has such a feature.

from 0 to 19 months

The presence of an additional, 47th, chromosome affects the development of the internal organs of the child, his abilities for mental and physical development. However, statistics say: 4 out of 5 children with this genomic pathology are trained, and some may well achieve significant success in life. There are a huge number of variations of the syndrome that have a different effect on the potential of the child - sometimes he does not need to draw up special programs at all, and his development is within the limits applicable to age.

And yet, in most cases, children have problems with speech - for example, a delay between understanding and producing a word. Also common is the slow development of fine motor skills, which is inferior to other motor qualities in the pace of their improvement. Such children can stand up later - from 2 to 4 years. Therefore, doctors adhere to an early intervention approach: it is noticed that the earlier physical therapy and special classes are prescribed, the earlier examinations reveal limiting factors (for example, hearing problems), the faster the child develops and the less he lags behind his peers.

Causes of Down syndrome

Excess genetic material correlates with the age of the mother, father, and even maternal grandmother. However, it is impossible to predict whether a child will be born healthy or sick - his parents almost always turn out to be healthy people, and pathology is detected only at the stage of fetal screening. Indirectly affect the development of the syndrome can:

• conception in a closely related marriage;
• presence among relatives of a person with this mutation;
• late births with a mother over 35 years old and a father over 40 years old;
• the presence of bad habits, unhealthy diet and lifestyle.

The syndrome is not related to the sex of the fetus and is diagnosed using invasive and non-invasive techniques. At birth, the development of the child is almost always normal, with the exception of minor delays. At the same time, brothers and sisters with the disease are similar to each other, but not like their parents.

Differences since the early days:

• children with the disease have a flattened face and shortened nose;
• on the shortened neck there is a characteristic fold;
• at the inner corner of the eye, an epicanthus is noticeable, which is unusual for children of non-Mongoloid races;
• the corners of the eyes have different heights, which is often accompanied by strabismus;
• The tongue is enlarged, making it difficult for the child to keep his mouth closed;
• there is a curvature of the little finger, clinodactyly;
• in 20% or more, congenital leukemia, epilepsy, problems with the genitourinary system are also diagnosed.

Features of development

At the age of 3 months, a child with Down syndrome is characterized by the following level of development:

• expresses a feeling of hunger by crying, and satiety - by joy;
• reacts emotionally to the attention and appearance of significant adults;
• no problems with sucking and swallowing milk;
• when lying on his back, actively moves his arms and legs;
• lifting the head not lower than 4-6 cm from the surface, holding the head - 8-12 seconds;
• when lying down, holds the head for about a minute;
• compresses and decompresses the cams well;
• can touch his own face with his fingers;
• actively observes interesting items;
• recognizes the mother's voice and responds to it;
• recognizes familiar people and emotionally expresses this.

At the age of 4-6 months:

• makes attempts to communicate with relatives, coos and babbles;
• knows how to laugh;
• shows apprehension and doubt at the sight of strangers;
• actively pulls pens into his mouth;
• sits and holds the head without much difficulty;
• observes interesting objects;
• well distinguishes acquaintances, up to frequent guests, from strangers;
• keeps track of favorite toys and other items of interest.

Older than 6 - up to 10 months:

• responds to tickling with laughter;
• smiles when playing or in response to affection;
• learns to speak short words of a couple of syllables;
• knows that if an object is dropped, it will be picked up;
• cries or shows other negative emotions if a toy is taken from him;
• knows how to eat from hands, drink from a mug held by an adult;
• begins to crawl and stand up independently with the support of an adult;
• passes objects with one or two hands;
• shows curiosity about the world around him, cognitive attempts.

At the age of 10-12 months:

• reacts by crying to scolding or swearing;
• understands that items can be given in response to a request;
• eats independently;
• hugs parents;
• rolls from back to stomach at will;
• walks with adult support;
• begins the development of fine motor skills in games;
• understands when spoken to.

13 to 15 months:

• waves and claps as appropriate;
• can respond with affirmative or negative head movements;
• gets up and walks independently;
• plays with a ball, a constructor, cars, a pyramid;
• makes the first drawings.

Age 16-19 months:

• understands simple instructions from adults and does them on his own or with help from others;
• gives items to adults upon request;
• learns to take off his own clothes;
• washes himself;
• can go up and down stairs with the help of an adult.

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