Downs baby newborn

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.

Growth Charts for Children with Down Syndrome

Growth charts for children with Down syndrome in the United States are available for download below. These charts can help healthcare providers monitor growth among children with Down syndrome and assess how well a child with Down syndrome is growing when compared to peers with Down syndrome.

Clinical Growth Charts

The clinical charts are shown in metric units (kilograms and centimeters). Each chart is available for boys and girls. Each chart shows the 5^th, 10^th, 25^th, 50^th, 75^th, 90^th, and 95^thpercentiles. The available charts include the following:

For children from birth to 3 years of age:

Weight in kilograms*
Length/height in centimeters (length is measured unless the child can stand unsupported, in which case height is measured)
Head circumference (measurement around a child’s head in the largest area)
Weight-for-length

*Weight percentile curves start at age 0 months; other “birth to 3 years of age” growth curves start at 1 month of age.

For individuals aged 2-20 years:

Weight
Height
Head circumference

0-36 months

Boys

Weight in kilograms [PDF – 718K]

Length/height in centimeters [PDF – 620K]

Head circumference [PDF – 655K]

Weight in kilograms-for-length in centimeters [PDF – 742K]

Girls

Weight in kilograms [PDF – 133K]

Length/height in centimeters [PDF – 140K]

Head circumference [PDF – 136K]

Weight in kilograms-for-length in centimeters [PDF – 134K]

2-20 years

^1,2

Boys

Weight in kilograms [PDF – 691K]

Height in centimeters [PDF – 715K]

Head circumference [PDF – 623K]

Girls

Weight in kilograms [PDF – 124K]

Height in centimeters [PDF – 137K]

Head circumference [PDF – 169K]

¹Body mass index (BMI) growth charts are available at https://www. cdc.gov/growthcharts/clinical_charts.htm
²Please see the publication by Zemel at al. for body mass index (BMI) growth charts for a sample of children with Down syndrome

Methods and Development

For more information about the methods and development of the growth charts for children with Down syndrome, please see http://pediatrics.aappublications.org/content/early/2015/10/21/peds.2015-1652.abstract.

Background

The information below is provided to help you read and interpret the growth charts for children with Down syndrome.

What is a percentile?
Percentiles are the most commonly used indicator to assess the size and growth patterns of individual children in the United States. Percentiles rank the position of an individual by indicating what percent of the reference population the individual would equal or exceed. The reference population is the group of individuals whose growth patterns were used to develop the growth charts.

What is a z-score?
A z-score is a measure of how an individual relates to the average value for the reference population. A z-score has a direct relationship to percentiles. For more technical information about these scores and how they are calculated, visit https://www.cdc.gov/growthcharts/growthchart_faq.htm.

My child is at or below the 5th percentile on a chart, what should I do?
If you are concerned about your child’s growth, talk with your child’s healthcare provider.

Are there considerations I should keep in mind when using these charts?
Specialized growth charts, like these new growth charts for children with Down syndrome, provide useful growth references for children with Down syndrome, but may have some limitations. For example, for this study the researchers took growth measurements from a group of 637 individuals with Down syndrome recruited from medical and community locations, mostly from the Philadelphia area. These children might not be representative of all children with Down syndrome in the United States. For more information about the methods and development of the growth charts for children with Down syndrome, please see http://pediatrics.aappublications.org/content/early/2015/10/21/peds.2015-1652.abstract.

Reference

Zemel BS, Pipan M, Stallings VA, Hall W, Schadt K, Freedman DS, Thorpe P. Growth charts for children with Down syndrome in the United States. Pediatrics. 2015 Nov 1;136(5):e1204-11.

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 delivery with mother over 35 years of age and father over 40 years of age;
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:

affected children 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 unclenches well;
can touch his own face with his fingers;
actively observes interesting items;
recognizes and responds to mother's voice;
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:

responds by crying to scolding or swearing;
understands that items may be given in response to a request;
eats independently;
hugs parents;
rolls over 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.

16-19 months of age:

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 clothes off by himself;
washes himself;
can go up and down stairs with the help of an adult.

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Features of the development of children with Down syndrome: mental and physical abilities

Skin

The main feature of the development of children with Down syndrome in the bodily plane is thin skin, which is too confirmed by the influence of the environment. In winter, the skin of such a child dries very much, it can crack, in summer it becomes rough to the touch. Frequent rashes in infancy are also the result of the fact that the skin is very delicate and thin.

Heart

The development of internal organs is often slowed down due to birth defects. The cardiovascular system suffers greatly. Cardiologists note frequent heart murmurs, circulatory problems. The abdominal muscles are weakened, so the tummy of children with Down syndrome sticks out a little. Some children may be tormented by a hernia, but by the age of 13-15 it goes away by itself.

Mobility

Movements in children with mental disorders are often uncoordinated, there are problems with coordination. Although both boys and girls are usually all mobile, they love active games, they run.

Separately, it is worth dwelling on fine motor skills. In the first few months of life, special babies are almost motionless. Without the help of adults, they cannot roll over, take other positions - their muscles are very weak. Only at 4-5 months of life for such newborns opens the world of objects. This “delayed” lag in cognitive development needs to be worked out.

Parents of "sunny" children need to place more emphasis on finger control and playing with them. Otherwise, writing, drawing, playing, and even doing ordinary things in the future will be difficult.

Subtleties of the psyche

Features of the development of children with Down syndrome differ significantly from the specifics of raising children with mental retardation. If there is a lag, then it is light or medium, which is not so scary. Some "suns" even study in ordinary schools. Yes, they are poorly concentrated and often scattered. And because of the small amount of short-term memory, they have to study harder.

Causes

If a child with Down syndrome does not respond to questions or, on the contrary, answers inappropriately, it is not because he does not understand something. Most likely, there are two reasons.

Poor hearing. The situation will be corrected by a hearing aid.
The child is not in the mood: the child was active, included in the work, and then there was a sharp change in mood and that's it - he no longer wants to participate in what is happening. He closes.

Of course, such features of the development of children with Down syndrome greatly complicate the learning process. "Sunny" children like to watch the process more than to participate in it.