Why Are My Newborn Baby's Eyes Slanted Down
Down syndrome is a condition in which a person has an actress chromosome.
What is Down's syndrome?
Down syndrome is a status in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the body. They determine how a baby's torso 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 actress copy of one of these chromosomes, chromosome 21. A medical term for having an actress copy of a chromosome is 'trisomy.' Down syndrome is also referred to equally Trisomy 21. This extra re-create changes how the babe'due south body and brain develop, which tin can cause both mental and physical challenges for the baby.
Fifty-fifty though people with Down syndrome might human activity and look similar, each person has different abilities. People with Down syndrome usually take an IQ (a measure out of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.
Some common concrete features of Down's syndrome include:
- A flattened face up, specially the bridge of the nose
- Almond-shaped eyes that camber upwards
- A short neck
- Small ears
- A natural language that tends to stick out of the mouth
- Tiny white spots on the iris (colored role) of the middle
- Small hands and feet
- A single line across the palm of the manus (palmar crease)
- Modest 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 Syndrome?
Down syndrome remains the nearly mutual chromosomal condition diagnosed in the United States. Each twelvemonth, well-nigh 6,000 babies born in the Usa accept Downward syndrome. This means that Down syndrome occurs in near ane in every 700 babies.1
Types of Down syndrome
In that location are three types of Down syndrome. People often can't tell the difference between each type without looking at the chromosomes because the concrete features and behaviors are like.
- Trisomy 21: Nearly 95% of people with Down's syndrome accept Trisomy 21.2 With this type of Down's syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
- Translocation Down's syndrome: This type accounts for a small pct of people with Down syndrome (almost 3%).two This occurs when an extra part or a whole actress chromosome 21 is nowadays, just it is attached or "trans-located" to a unlike chromosome rather than being a dissever chromosome 21.
- Mosaic Down syndrome: This type affects almost 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's syndrome may have the same features as other children with Down's syndrome. Nevertheless, they may accept fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.
Causes and Adventure Factors
- The extra chromosome 21 leads to the physical features and developmental challenges that can occur amidst people with Down syndrome. Researchers know that Down's syndrome is caused by an extra chromosome, only no one knows for sure why Down syndrome occurs or how many different factors play a role.
- I cistron that increases the hazard for having a baby with Down syndrome is the mother's age. Women who are 35 years or older when they go pregnant are more likely to have a pregnancy affected by Down syndrome than women who go pregnant at a younger age.iii-5Even so, the majority of babies with Down syndrome are built-in to mothers less than 35 years erstwhile, because there are many more births among younger women.6,7
Diagnosis
There are 2 basic types of tests bachelor to notice Downward syndrome during pregnancy: screening tests and diagnostic tests. A screening exam can tell a woman and her healthcare provider whether her pregnancy has a lower or higher take chances of having Downward syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically observe whether or non a babe will accept Down syndrome, just they tin be more risky for the mother and developing infant. Neither screening nor diagnostic tests can predict the total bear upon of Down's syndrome on a infant; no one can predict this.
Screening Tests
Screening tests often include a combination of a blood test, which measures the corporeality of diverse substances in the mother's claret (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'due south cervix. Extra fluid in this region could indicate a genetic problem. These screening tests can help make up one's mind 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 however they miss a trouble that does be.
Diagnostic Tests
Diagnostic tests are usually performed subsequently a positive screening test in order to confirm a Downwards 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 babe)
- Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord
These tests wait for changes in the chromosomes that would indicate a Down's syndrome diagnosis.
Other Wellness Problems
Many people with Down's syndrome have the mutual 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 health problems among children with Down's syndrome are listed beneath.eight
- Hearing loss
- Obstructive sleep apnea, which is a condition where the person'south breathing temporarily stops while asleep
- Ear infections
- Eye diseases
- Heart defects nowadays at birth
Wellness care providers routinely monitor children with Down's syndrome for these conditions.
Treatments
Downwards syndrome is a lifelong status. Services early in life will oftentimes assistance babies and children with Down syndrome to amend their concrete and intellectual abilities. Most of these services focus on helping children with Down's syndrome develop to their total potential. These services include spoken language, occupational, and concrete therapy, and they are typically offered through early intervention programs in each land. Children with Down syndrome may as well need extra assist 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 Inquiry Foundation (DSRF)external icon
DSRF initiates research studies to better understand the learning styles of those with Down's syndrome. - Global Down's 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 Association for Down syndromeexternal icon
The National Association for Down's syndrome supports all persons with Down's syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation. - National Downwardly Syndrome Society (NDSS)external icon
NDSS seeks to increment 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. Nascence Defects Enquiry. 2019; 111(xviii): 1420-1435.
- Shin G, 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 study from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(ane):41-52.
- Ghosh South, Feingold E, Dey SK. Etiology of Downwards syndrome: Evidence for consequent association among contradistinct meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
- Sherman SL, Allen EG, Edible 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 of america. 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 Country, 1983-1992. Prenat Diagn. 1996 November;xvi(11):991-1002.
- Bull MJ, the Committee on Genetics. Health supervision for children with Down's syndrome. Pediatrics. 2011;128:393-406.
Source: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
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