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Down Syndrome
What a difference an extra chromosome can make. Here we explore the misconceptions -- as well as the ups and downs -- of Down Syndrome, a congenital genetic disorder that is caused by the presence of an extra 21st chromosome. The affected person is mildly to moderately handicapped, short in stature, and has a flattened facial profile.
693 Questions
What is the life expectancy of people with down syndrome in the US?
well i think that it might be the way they were born and so they see the world the same way we do
Why should mental retardation not be considered as a disease?
First a Disease is :an impairment of the normal state of the living animal or plant body or one of its parts that interrupts or modifies the performance of the vital functions, is typically manifested by distinguishing signs and symptoms, and is a response to environmental factors (as malnutrition, industrial hazards, or climate), to specific infective agents (as worms, bacteria, or viruses), to inherent defects of the organism (as genetic anomalies), or to combinations of these factors . From Mweeian Webster,
Mental retardation is :subaverage intellectual ability equivalent to or less than an IQ of 70 that is accompanied by significant deficits in abilities (as in communication or self-care) necessary for independent daily living, is present from birth or infancy, and is manifested especially by delayed or abnormal development, by learning difficulties, and by problems in social adjustment
What chromosomes is the code for down syndrome located on?
== == Down syndrome, also known as "Trisomy 21," is not caused by a single particular gene or DNA sequence. Rather, Trisomy 21 is caused by the presence of an "extra" chromosome 21 in the set inherited by a Down syndrome patient. The normal chromosome number is 46 (consisting of 2 sex chromosomes, XX or XY, and 44 non-sex chromosomes); Trisomy 21 patients thus have 47 and are denoted as 47, t21.
How can Down syndrome affect a person's daily life?
=== === People who have Down syndrome are usually treated differently because they can't talk properly, in addition to other differences. Down syndrome usually makes it harder for someone to learn, but it's really good for them to keep active.
My brother has Down syndrome and he is so outgoing; he doesn't care what people think of him and that's how most Down syndrome people are. They have their days, like everyone else. They're nice, but can also be mean.
My brother can't talk right. Some people are so nice to him, but others can just be so mean! But, as I said before, he doesn't care at all; he is still his regular self.
That's basically all I know. But just be nice to all special-needs people -- they are just like us!
How do doctors test for conditions like Down syndrome in unborn babies?
A doctor will perform screening tests during the pregnancy in order to diagnose (and/or indicate a high risk of) Down syndrome of the fetus.
First trimester screening for Down syndome involves an ultrasound. In the ultrasound, they are looking for an increased space in the back of the fetal neck. An increased diameter is associated with chromosomal abnormalities. A blood test is performed to check for high levels of PAAP-A and hCG, two hormones that are produced by the fetus and passed into the mother's bloodstream. Women whose results are abnormal would be offered amniocentesis.
Also, researchers are now looking at whether the absence of a nasal bone in the fetus, shown by an ultrasound, may also indicate a higher risk of Down syndrome.
When Is It Done?
* Blood test between 9-11 weeks. * Ultrasound between 11-13 weeks. * Follow-up blood test and results reported between 16-18 weeks. Ultrasound and the blood test are simple (and the usual) procedures.
This involves a simple blood test (triple screen) which will measure three hormones produced by the fetus and is passed into the mother's bloodstream: alpha-fetoprotein (AFP), hCG, and estriol. Some doctors also measure the hormone inhibin-A (making it a quad screen). This blood test can also be used in conjunction with the first trimester screening, call "integrated screen", for the highest detection rate of chromosomal abnormalities but not all practitioners are equipped to test this way yet.
Abnormally low levels suggest an increased risk of Down syndrome, or other chromosomal defect. The triple screen cannot diagnose a birth defect; it can only indicate an increased risk. The false positive rate for the triple screen is extremely high. Any abnormal result means that further testing is required. This is done between the 15th and 18th weeks and results are available within one week.
Chorionic Villus Sampling (CVS) is performed in the first trimester. CVS is useful to detect disorders for which the technology exists such as Down syndrome. Occasionally both CVS and amniocentesis may be needed. It is performed between the 10th and 13th weeks of pregnancy. CVS is performed depending on the location of the placenta, the sample of cells is taken via the vagina and cervix or via a needle inserted in the abdominal wall. Test results are available in 3-5 days. Since the chorionic villi are of fetal origin, examining them can give a complete picture of the gentic makeup of the developing fetus.
Amniocentesis is more than 99 percent accurate in diagnosing, or ruling out which is much more likely, Down syndrome. It is recommended when:
* The mother is over 35 years old. * The couple has already had a child with a chromosomal abnormality. * The mother is a carrier of an X-linked genetic disorder. * Both parents are carriers of an autosomal recessive inherited disorder. * A parent is known to have a condition such as Huntington's chorea. * Fifth Desease or other fetal infection is suspected. * Results of a screen test turn out to be abnormal and evaluation of the amniotic fluid is necessary. * It is necessary to assess the maturity of the fetal lungs late in pregnancy. * The couple has another child or a close relative with a neural tube defect.
What is a risk factor for having a baby with Down syndrome?
Theres really only one important risk factor; Age and maternal age only.
The risk for having a child with Down syndrome increases signifficantly after the mother reaches 35-40 years of age.
What age does down syndrome start to occur?
Down syndrome is something you are born with; it is not something that will suddenly "appear."
Does Down syndrome occur in a specific location?
Down Syndrome is known as trisomy 21 because someone with the syndrome has 3 chromosomes of the same type when we are only supposed to have 2 (one from each parent). Chromosomes are paired and numbered so Down Syndrome is the result of having 3 of the #21 chromosome. The body will not know what to do with the extra chromosome so as a precautionary measure it will shut down all 3 and the genes that are within the chromosomes can no longer be accessed.
So as you can see, Down Syndrome is not from being inherited by a specific gene. It is due to an error in meiosis in either the mother or the father.
What factors cause an increase in probability to have a child with Down Syndrome?
Older mothers have more problems with their body's than younger one's do, therefore it makes them more vulnerable to having a child with DS than a younger mother with a healthier body haveing a child with DS.
Who discovered downs syndrome?
== == Dr. John Langdon-Down was a pioneer in training the mentally handicapped in Middlesex, England, toward the end of the 1860s.
For more information, see the Related Link.
No, you cannot catch Down syndrome.
Down syndrome is a condition, not a disease or an infection. It is a disorder of the chromosomes. It is something you are born with, and is caused by a genetic mutation of Chromosome 21.
== == No, there is no cure -- as of yet.
Down syndrome is caused by having three of Chromosome 21 instead of the healthy two. There is no way to remove an extra chromosome, especially not from every cell in the whole body! The older the mother is, the more likely this is to occur. If the mother is 40 or older when she conceives, her chances of having a baby with Down skyrocket. Actually most cases of Down Syndrome occur in women under the age of 35.
What are some of the health concerns of someone with Down syndrome?
Besides the educational issue people with Downs tend to have hypermobile joints, obesity, unstable cervical vertebrae (which should be checked before sport participation), higher rates of leukemia, and higher rates of thyroid problems.
Is down syndrome a disease or a disorder?
Down syndrome is a genetic abnormality and would be called a genetic disorder; however, complications associated with Down syndrome can increase the risk of a number of diseases, such as congenital heart disease.
To give another example, cancer is a disease, but in some it may stem from a genetic disorder.
How do you know if your newborn has Down syndrome?
a test is usually done in pregnancy which identifies the condition. people with down syndrome have an extra chromosome. people with down syndrome usually have impaired cognitive ability and typical facial characteristics such as an oversized tongue and are usually small in stature
What are the causes of down syndrome?
Downs syndrome is in medical terms called Trisomy 21 as it is caused by a genetic defect in the 21st set of chromosome, usually you have 44 chromosomes - 22 from your mother and 22 from your father and a set of sex chromosomes (these are your male/female genes), if you have Down Syndrome you have an extra chromosome on the 21st set of genes so instead of 1 from each parent you have 1 from you dad, 1 from your mum and a mutated gene.
What is does down syndrome mean?
Down syndrome is something that human can be born with (you don't catch it). Its caused by having 1 extra chromosome (trisomy 21) , resulting from a genetic mutation. It is characterized by specific facial features and below average cognitive abilities. It's developed before birth, it cannot be treated or prevented. For woman after 40 can be considered a bit risky and is possible to increase the chances down syndrome. An amniocentesis can be done to determine if an unborn child has this syndrome, but as there is no cure it is merely a way for parents to be prepared.
The meaning of Down syndrome is understood as the continuation of some defect from parents to lower generations. The word 'Down is actually the name John Langdon Down who described the condition in 1887 however extra genetic material causing delay in the way of child 's growth was discovered later. Syndrome is from the recognizable clinical symptoms. The Down syndrome has unpredictable behavior with different families. A teacher with very week eye sight has 3 sons and 3 daughters with perfect eye sight. Elder son has 3 children with week eye sight but his brother has a son with perfect eye sight though wives of both are real sisters out of the family. Third son has 3 sons with perfect eye sight. The affect of the children of daughter is reverse; two daughters having children with week eye sight and third having children having no eye sight problem.
Were can you find images of the karyotyping of Down syndrome?
There are many links to Down Syndrome organizations on the Internet. A couple of links are provided below with pictures that were found that way using a search for "babies with Down Syndrome" in a search engine.
How many chromosomes are in a human zygote which has Down Syndrome?
Human cells have 23 pairs of chromosomes, giving a total of 46 per cell.
How do you get diagnosed with Down syndrome?
phsychiatrist
A Downs Syndrome diagnosis is confirmed with a genetic test, which looks for the extra chromosome (Downs chromosome) that is present.
Autistic diagnostic tests such as the CARS, CHAT, ADOS, as well as the Bayleys Scale and Monte Griffiths assesment can be carried out by a psychiatrist (because they rely on observation and parental imput in some parts) but I would recommend seeing a developmental paediatrician because they primarily deal with childrens developmental issues, plus they can along with occupational therapists look for other indicators of autism plus look at whether your child has another developmental problem other than Downs syndrome or autism.
They may also test your child's blood for things like lead levels (to rule out lead poisoning) haemogobin levels, and look at if your child may have Fragile X syndrome, or urine testing for metabolic problems or do an EEG to look for indications your child may have had seizures or something else that may have led to regression in your child's development, plus they may get several different tests like hearing tests to rule out deafness or something else that it could be so I would personally recommend a developmental paediatrician because they may take a more wholistic approach and are experts in the field. I hope this has helped you know what to look for. Good luck.
How many people in Canada have Down syndrome?
In short, an estimated 285 million people worldwide are affected by diabetes, while, in Canada, more than 3 million Canadians have diabetes and this number is expected to reach 3.7 million by 2020
Which famous people have a sibling with Down syndrome?
Chris Burke (Corky for the TV show, Life goes on)
Stephane Ginnsz (movie- Duo)
Lauren Potter (Glee)
Andrea Friedman
(Family Guy TV show)
Trig Palin (celebrity son of Sarah Palin)
Robin Trocki (Glee)
What percentage of babies these days are born with Down syndrome?
Varying statistics reported by our users:
- 2 percent of the world's population has Down syndrome.
- According to Wikipedia, 0.1-0.125 % of babies who are born have Down syndrome (1 in every 800-1000 births).
- The overall incidence of Down syndrome is 1:660 newborns, thereby making it the most common genetically diverse configuration in humans.
- Research shows that 1:800-1000 people (approximately 900) are born with Down syndrome. If you compare this with the number of people on earth - 6.5 billion - then there are about 7,222,222 people with Down syndrome. This is about 0.11111110769231% of the approximate population of earth.
- According to scientific data, Down syndrome occurs in 1 out of every 750 births. The incidence, however, increases dramatically with increasing maternal age. If you look at the Related link below, you will see that, under about age 30, there is a 1:1000 chance in having a child with Down syndrome; at age 40, however, there is about a 1:100 chance. This increases to 1:10 by age 50.
- Approximately 1:800-1,000 babies are born with Down syndrome.
- The overall incidence of Down syndrome is 1:660 newborns.
