What to Tell Parents of Babies With Down Syndrome
What is Downwardly Syndrome?
In every cell in the homo trunk there is a nucleus, where genetic cloth is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures chosen chromosomes. Typically, the nucleus of each jail cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Downward syndrome occurs when an individual has a total or partial actress copy of chromosome 21.
This additional genetic material alters the course of development and causes the characteristics associated with Downwards syndrome. A few of the common physical traits of Down syndrome are low muscle tone, pocket-size stature, an upward slant to the optics, and a unmarried deep pucker beyond the center of the palm – although each person with Downwards syndrome is a unique individual and may possess these characteristics to different degrees, or not at all.
How Common is Down's syndrome?
According to the Centers for Disease Control and Prevention, approximately one in every 700 babies in the United States is born with Downwardly syndrome, making Down's syndrome the nearly common chromosomal condition. Well-nigh half-dozen,000 babies with Downwardly syndrome are built-in in the Us each year.
When Was Down syndrome Discovered?
For centuries, people with Down syndrome take been alluded to in fine art, literature and science. It wasn't until the tardily nineteenth century, nevertheless, that John Langdon Downwards, an English physician, published an accurate description of a person with Down syndrome. Information technology was this scholarly work, published in 1866, that earned Down the recognition every bit the "father" of the syndrome. Although other people had previously recognized the characteristics of the syndrome, it was Down who described the status as a distinct and separate entity.
In recent history, advances in medicine and science take enabled researchers to investigate the characteristics of people with Down syndrome. In 1959, the French physician Jérôme Lejeune identified Down syndrome as a chromosomal condition. Instead of the usual 46 chromosomes present in each prison cell, Lejeune observed 47 in the cells of individuals with Down syndrome. It was later determined that an extra partial or whole copy of chromosome 21 results in the characteristics associated with Down syndrome. In the year 2000, an international squad of scientists successfully identified and catalogued each of the approximately 329 genes on chromosome 21. This achievement opened the door to great advances in Down syndrome enquiry.
Are At that place Different Types of Down Syndrome?
TRISOMY 21 (NONDISJUNCTION)
Down's syndrome is usually caused by an error in cell partition called "nondisjunction." Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two. Prior to or at formulation, a pair of 21st chromosomes in either the sperm or the egg fails to divide. Every bit the embryo develops, the extra chromosome is replicated in every jail cell of the body. This blazon of Down syndrome, which accounts for 95% of cases, is chosen trisomy 21.
MOSAICISM
Mosaicism (or mosaic Down's syndrome) is diagnosed when there is a mixture of 2 types of cells, some containing the usual 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra chromosome 21.
Mosaicism is the least common class of Down's syndrome and accounts for only about 1% of all cases of Down syndrome. Research has indicated that individuals with mosaic Down's syndrome may accept fewer characteristics of Down's syndrome than those with other types of Down's syndrome. However, broad generalizations are not possible due to the broad range of abilities people with Downwardly syndrome possess.
TRANSLOCATION
In translocation, which accounts for virtually 4% of cases of Down syndrome, the total number of chromosomes in the cells remains 46; nonetheless, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome 14. The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome.
What Causes Down Syndrome?
Regardless of the type of Down syndrome a person may have, all people with Down syndrome accept an extra, critical portion of chromosome 21 present in all or some of their cells. This additional genetic material alters the class of development and causes the characteristics associated with Down syndrome.
The cause of the extra total or partial chromosome is still unknown. Maternal age is the only factor that has been linked to an increased chance of having a baby with Down syndrome resulting from nondisjunction or mosaicism. Still, due to higher birth rates in younger women, 80% of children with Down syndrome are built-in to women nether 35 years of age.
At that place is no definitive scientific research that indicates that Down syndrome is caused past environmental factors or the parents' activities before or during pregnancy.
The boosted partial or full re-create of the 21st chromosome which causes Down syndrome can originate from either the father or the mother. Approximately 5% of the cases have been traced to the father.
Does Down Syndrome Run in Families?
All iii types of Down syndrome are genetic conditions (relating to the genes), but only one% of all cases of Down syndrome have a hereditary component (passed from parent to child through the genes). Heredity is not a factor in trisomy 21 (nondisjunction) and mosaicism. Yet, in one-tertiary of cases of Down syndrome resulting from translocation there is a hereditary component – bookkeeping for virtually i% of all cases of Down syndrome.
The age of the mother does not seem to be linked to the risk of translocation. Most cases are desultory – chance – events. Still, in about one-tertiary of cases, ane parent is a carrier of a translocated chromosome.
What Is the Likelihood of Having a Second Child with Downwards Syndrome?
Once a woman has given birth to a babe with trisomy 21 (nondisjunction) or translocation, it is estimated that her chances of having another infant with trisomy 21 is i in 100 upwardly until age twoscore.
The gamble of recurrence of translocation is about 3% if the male parent is the carrier and 10-15% if the female parent is the carrier. Genetic counseling can determine the origin of translocation.
How Is Downwardly Syndrome Diagnosed?
PRENATALLY
There are two categories of tests for Down's syndrome that can be performed before a infant is born: screening tests and diagnostic tests. Prenatal screens estimate the chance of the fetus having Down syndrome. These tests practise not tell y'all for certain whether your fetus has Down's syndrome; they only provide a probability. Diagnostic tests, on the other hand, tin provide a definitive diagnosis with most 100% accuracy.
There is an all-encompassing card of prenatal screening tests at present bachelor for pregnant women. Most screening tests involve a claret test and an ultrasound (sonogram). The claret tests (or serum screening tests) measure quantities of various substances in the blood of the mother. Together with a woman'south age, these are used to estimate her chance of having a child with Down syndrome. These blood tests are often performed in conjunction with a detailed sonogram to check for "markers" (characteristics that some researchers feel may take a significant clan with Downwards syndrome). New advanced prenatal screens are at present able to detect chromosomal fabric from the fetus that is circulating in the maternal blood. These tests are non invasive (like the diagnostic tests below), but they provide a high accuracy rate. Still, all of these screens volition not definitively diagnose Down syndrome. Prenatal screening and diagnostic tests are now routinely offered to women of all ages.
The diagnostic procedures available for prenatal diagnosis of Down syndrome are chorionic villus sampling (CVS) and amniocentesis. These procedures, which carry upward to a i% risk of causing a spontaneous termination (miscarriage), are well-nigh 100% accurate in diagnosing Down's syndrome. Amniocentesis is usually performed in the 2d trimester between fifteen and xx weeks of gestation, CVS in the first trimester between ix and 14 weeks.
AT BIRTH
Down's syndrome is usually identified at nascence past the presence of sure concrete traits: low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial contour and an up slant to the eyes. Because these features may be present in babies without Down's syndrome, a chromosomal analysis called a karyotype is washed to confirm the diagnosis. To obtain a karyotype, doctors depict a claret sample to examine the infant's cells. They photograph the chromosomes and and so group them by size, number, and shape. By examining the karyotype, doctors tin can diagnose Down syndrome. Some other genetic test called FISH can apply like principles and confirm a diagnosis in a shorter amount of time.
Preferred Language Guide
Use this language when referring to Down's syndrome and people who have Down syndrome:
- People with Down syndrome should e'er be referred to as people outset.
- Instead of "a Down syndrome child," it should be "a child with Down syndrome." Also avoid "Down's child" and describing the condition as "Down's," every bit in, "He has Downwardly's."
- Down syndrome is a condition or a syndrome, not a affliction.
- People "take" Downwardly syndrome, they practice not "suffer from" it and are not "affected by" it.
- "Typically developing" or "typical" is preferred over "normal."
- "Intellectual disability" or "cognitive disability" has replaced "mental retardation" equally the appropriate term.
- NDSS strongly condemns the use of the discussion "retarded" in any derogatory context. Using this word is hurtful and suggests that people with disabilities are not competent.
Downwards vs. Down's
- NDSS uses the preferred spelling, Downwardly syndrome, rather than Down syndrome.
- Down syndrome is named for the English physician John Langdon Down, who characterized the condition, just did not take it. An "apostrophe s" connotes ownership or possession.
- While Down syndrome is listed in many dictionaries with both popular spellings (with or without an apostrophe due south), the preferred usage in the Us is Down syndrome. The AP Stylebook recommends using "Down's syndrome," too.
These downloadable versions of the Preferred Language Guide are available to print and distribute:
- NDSS Preferred Language Guide
- NDSS Fact Sheet and Language Guide
Resources
EXTERNAL RESOURCES
- Brighter Tomorrows
www.brightertomorrows.org
Brighter Tomorrows is a web-based resource for parents who have received a diagnosis of Downwardly Syndrome either prenatally or at nascency. The site provides answers to common questions, educates almost Down syndrome and shares the stories of other parents with similar situations. - Down syndrome Pregnancy
world wide web.downsyndromepregnancy.org
This site provides data and back up to expectant parents preparing for the birth of a baby with Downward Syndrome.
- International Mosaic Downwards Syndrome Clan
www.imdsa.org
Offers back up and resources to families of and individuals with mosaic Down's syndrome through the lifespan
- Medline Plus: Health Topics – Down syndrome
www.nlm.nih.gov/medlineplus/downsyndrome.html
An overview and listing of resources on Down syndrome and prenatal testing from Medline Plus, a service of the US National Library of Medicine and the National Institutes of Wellness
- National Society of Genetic Counselors
world wide web.nsgc.org
Find members of NSGC through the Detect A Genetic Advisor search function
- Agreement a Down syndrome Diagnosis
world wide web.lettercase.org
Understanding a Down Syndrome Diagnosis is an accurate, balanced and up-to-engagement booklet for use when delivering a diagnosis of Down's syndrome. It is available every bit a free east-book from Lettercase.
DVDS
- Downwards Syndrome: The First 18 Months. Blueberry Shoes Productions.
BOOKS
- A Parent's Guide to Down Syndrome: Toward A Brighter Future. Pueschel, South. (2000). Baltimore, MD: Brookes Publishing.
- Babies with Down's syndrome: A New Parents' Guide (Third Edition). Skallerup, Due south. (Ed.) Bethesda, MD: Woodbine Business firm. (2008)
- Downs: The History of a Disability. Wright, D. New York, NY: Oxford University Printing. (2011)
- Tales of Normansfield: The Langdon Downward Legacy. Merriman, A. Beccles, Uk: The Down's syndrome Clan. (2007)
- The Guide to Good Wellness for Teens and Adults with Down Syndrome. McGuire, D. and Chicoine, B. Bethesda, Doc: Woodbine House. (2010)
Source: https://www.ndss.org/about-down-syndrome/down-syndrome/
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