Questions That Are Asked to Families With a Child With Down Syndrome

Down's syndrome is a status in which a person has an extra chromosome.

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 every bit it grows during pregnancy and afterwards birth. Typically, a baby is built-in with 46 chromosomes. Babies with Down syndrome have an extra copy of ane of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is 'trisomy.' Down syndrome is likewise referred to as Trisomy 21. This extra copy changes how the baby'due south trunk and brain develop, which tin cause both mental and physical challenges for the baby.

Even though people with Downwards syndrome might act and await similar, each person has dissimilar abilities. People with Down syndrome usually accept an IQ (a mensurate of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Downward syndrome include:

• A flattened face, particularly the bridge of the nose
• Almond-shaped optics that camber up
• A short neck
• Pocket-sized ears
• A tongue that tends to stick out of the rima oris
• Tiny white spots on the iris (colored part) of the middle
• Small easily and feet
• A single line across the palm of the manus (palmar pucker)
• Small pinky fingers that sometimes bend toward the thumb
• Poor muscle tone or loose joints
• Shorter in superlative as children and adults

How Many Babies are Born with Down's syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United states. Each yr, about 6,000 babies built-in in the United States have Downwards syndrome. This ways that Down's syndrome occurs in most 1 in every 700 babies.^one

Types of Down Syndrome

At that place are iii types of Down syndrome. People often can't tell the divergence between each type without looking at the chromosomes considering the concrete features and behaviors are similar.

• Trisomy 21: Virtually 95% of people with Down syndrome accept Trisomy 21.² With this type of Down syndrome, each cell in the body has iii split up copies of chromosome 21 instead of the usual 2 copies.
• Translocation Down syndrome: This blazon accounts for a small percentage of people with Downwardly syndrome (almost 3%).^two This occurs when an extra part or a whole extra chromosome 21 is present, merely it is fastened or "trans-located" to a different chromosome rather than existence a separate chromosome 21.
• Mosaic Downwards syndrome: This type affects about ii% of the people with Down syndrome.ⁱⁱ Mosaic means mixture or combination. For children with mosaic Down's syndrome, some of their cells accept 3 copies of chromosome 21, only other cells have the typical ii copies of chromosome 21. Children with mosaic Down syndrome may accept the same features as other children with Down syndrome. However, they may accept fewer features of the status 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's syndrome. Researchers know that Down syndrome is caused by an extra chromosome, merely no one knows for sure why Down's syndrome occurs or how many different factors play a part.
• One factor that increases the adventure for having a baby with Down's syndrome is the mother's age. Women who are 35 years or older when they become pregnant are more than probable to have a pregnancy affected by Down syndrome than women who get pregnant at a younger historic period.^three-fiveYet, the majority of babies with Down syndrome are born to mothers less than 35 years one-time, because there are many more births amid younger women.^6,vii

Diagnosis

In that location are two basic types of tests bachelor to notice 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 take a chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, only they are safer for the mother and the developing baby. Diagnostic tests tin typically detect whether or not a baby volition accept Down's syndrome, but they can exist more risky for the female parent and developing baby. Neither screening nor diagnostic tests can predict the full touch of Down syndrome on a babe; no one can predict this.

Screening Tests

Screening tests oft include a combination of a claret test, which measures the amount of various substances in the mother'southward blood (e.yard., 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. Actress fluid in this region could betoken a genetic problem. These screening tests tin aid determine the baby's risk of Downwards syndrome. Rarely, screening tests can give an abnormal effect fifty-fifty when at that place is nothing wrong with the baby. Sometimes, the examination results are normal and yet they miss a problem that does be.

Diagnostic Tests

Diagnostic tests are ordinarily performed afterwards a positive screening examination in gild to ostend a Downwardly 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 Downwardly syndrome diagnosis.

Other Wellness Problems

Many people with Down's syndrome have the common facial features and no other major nascency defects. However, some people with Down's syndrome might have one or more major birth defects or other medical problems. Some of the more than common health problems amidst children with Downward syndrome are listed below.⁸

• Hearing loss
• Obstructive sleep apnea, which is a status where the person's animate temporarily stops while asleep
• Ear infections
• Center diseases
• Middle defects present at birth

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

Treatments

Down syndrome is a lifelong status. Services early in life will often help babies and children with Down's syndrome to improve their physical and intellectual abilities. Nearly 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 schoolhouse, 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)external icon
  DSRF initiates enquiry studies to improve sympathize 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 intendance, education and advocacy.
• National Clan for Downwardly Syndromeexternal icon
  The National Clan for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to assist families, educate the public, address social issues and challenges, and facilitate active participation.
• National Down syndrome Society (NDSS)external icon
  NDSS seeks to increase awareness and credence of those with Down 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 nativity defects, 2010–2014. Birth Defects Inquiry. 2019; 111(18): 1420-1435.
2. Shin Yard, 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 risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a study from the Atlanta and National Down syndrome Projects. Hum Genet. 2009 Feb;125(one):41-52.
4. Ghosh Due south, Feingold E, Dey SK. Etiology of Down syndrome: Prove for consistent association among altered meiotic recombination, nondisjunction, and maternal age 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;thirteen(iii):221-seven.
6. Adams MM, Erickson JD, Layde PM, Oakley GP. Down'southward syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-60.
7. Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the alive nascence prevalence of Downwardly syndrome in New York State, 1983-1992. Prenat Diagn. 1996 November;sixteen(eleven):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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