What Are the Symptoms of Down Syndrome in Babies

Down syndrome is a condition in which a person has an extra chromosome.

What is Down's syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the body. They decide how a baby's body forms and functions equally it grows during pregnancy and later nascency. Typically, a baby is born with 46 chromosomes. Babies with Downwardly syndrome have an extra re-create of one of these chromosomes, chromosome 21. A medical term for having an actress re-create of a chromosome is 'trisomy.' Down's syndrome is also referred to every bit Trisomy 21. This extra re-create changes how the baby's trunk and brain develop, which can cause both mental and concrete challenges for the baby.

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

Some mutual physical features of Down syndrome include:

• A flattened face up, especially the bridge of the nose
• Almond-shaped eyes that slant up
• A curt cervix
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored office) of the center
• Small-scale hands and feet
• A unmarried line across the palm of the manus (palmar pucker)
• Minor 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?

Downward syndrome remains the near common chromosomal condition diagnosed in the United States. Each year, nearly half dozen,000 babies born in the Us accept Downward syndrome. This means that Downward syndrome occurs in virtually 1 in every 700 babies.ⁱ

Types of Downwardly Syndrome

There are three types of Down syndrome. People often tin't tell the divergence between each type without looking at the chromosomes because the concrete features and behaviors are similar.

• Trisomy 21: About 95% of people with Downward syndrome have Trisomy 21.² With this type of Down syndrome, each cell in the body has iii separate copies of chromosome 21 instead of the usual 2 copies.
• Translocation Down syndrome: This type accounts for a minor percentage of people with Downward syndrome (well-nigh 3%).² This occurs when an actress 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 ii% of the people with Down syndrome.ⁱⁱ Mosaic ways mixture or combination. For children with mosaic Down's syndrome, some of their cells take 3 copies of chromosome 21, just other cells accept the typical 2 copies of chromosome 21. Children with mosaic Down's syndrome may take the aforementioned features as other children with Down syndrome. Nevertheless, 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 tin occur among people with Down syndrome. Researchers know that Down's syndrome is caused by an actress chromosome, but no i knows for certain why Down syndrome occurs or how many different factors play a role.
• One cistron that increases the risk for having a baby with Down syndrome is the mother'due south historic period. Women who are 35 years or older when they become pregnant are more than probable to have a pregnancy afflicted by Down's syndrome than women who go pregnant at a younger age.^3-fiveNonetheless, the majority of babies with Down syndrome are born to mothers less than 35 years old, because in that location are many more than births among younger women.^6,7

Diagnosis

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

Screening Tests

Screening tests oftentimes include a combination of a blood test, which measures the corporeality of diverse substances in the mother'south claret (due east.one thousand., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a moving picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid backside the baby'due south neck. Extra fluid in this region could betoken a genetic problem. These screening tests can assist determine the babe'due south risk of Down syndrome. Rarely, screening tests tin give an aberrant result even when in that location is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a trouble that does be.

Diagnostic Tests

Diagnostic tests are normally 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 string

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

Other Health Problems

Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common wellness problems among children with Downwardly syndrome are listed below.⁸

• Hearing loss
• Obstructive slumber apnea, which is a condition where the person's breathing temporarily stops while asleep
• Ear infections
• Centre diseases
• Center defects present at birth

Health care providers routinely monitor children with Down syndrome for these conditions.

Treatments

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

Other Resources

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

• Down Syndrome Research Foundation (DSRF)external icon
  DSRF initiates research studies to better understand the learning styles of those with Down syndrome.
• Global Down syndrome Foundationexternal icon
  This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, didactics and advocacy.
• National Association for Down's syndromeexternal icon
  The National Association for Down syndrome supports all persons with Down's syndrome in achieving their total potential. They seek to assist families, brainwash the public, address social issues and challenges, and facilitate agile participation.
• National Down syndrome Club (NDSS)external icon
  NDSS seeks to increment sensation and credence of those with Down's syndrome.

References

1. 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.
2. Shin 1000, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
3. Allen EG, Freeman SB, Druschel C, et al. Maternal age and take chances for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Downwards Syndrome Projects. Hum Genet. 2009 February;125(1):41-52.
4. Ghosh Due south, Feingold E, Dey SK. Etiology of Down syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal historic period across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
5. Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down's syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(iii):221-7.
6. Adams MM, Erickson JD, Layde PM, Oakley GP. Down's syndrome. Recent trends in the United States. JAMA. 1981 Aug xiv;246(7):758-lx.
7. Olsen CL, Cantankerous PK, Gensburg LJ, Hughes JP. The furnishings of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York Land, 1983-1992. Prenat Diagn. 1996 Nov;16(11):991-1002.
8. Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.

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Source: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

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