![\"\"](\"http:\/\/dominicanewsonline.com\/news\/wp-content\/uploads\/2011\/06\/doc.jpg\" "\\"doc\\"")
It\u2019s probably safe to say that many of us have known and teased a child we used to describe as \u201cMongoloid.\u201d\u00a0 This term is now politically incorrect (Please, I am not talking politics for anybody).\u00a0 I just mean that nowadays, unlike in the past, we describe these persons by their correct medical designation, Down\u2019s syndrome.\u00a0 And it is very encouraging that the attitude of the public toward persons with Down\u2019s has taken an almost 180 degree turn.<\/p>\n
WHAT IS DOWN\u2019S SYNDROME \u2013 AN OVERVIEW<\/p>\n
Down\u2019s, or Down, syndrome is a genetic disorder resulting in varying degrees of physical and mental retardation.\u00a0 It causes problems in the development of the affected one ranging from mild to severe.\u00a0 The problem arises from the fact that the individual carries extra genetic material.<\/p>\n
Genes are essentially what make up DNA, which determines every individual\u2019s particular characteristics.\u00a0\u00a0 They are contained on 23 pairs of chromosomes for a total of 46.\u00a0 Most normal human beings have this number.\u00a0 Most people with Down\u2019s have an extra copy of the No. 21 chromosome, for a total of 47.\u00a0 Yes, we know them and number them, and unfortunately, more does not always mean better.\u00a0 As it turns out, Down\u2019s is the most common disorder involving chromosomes, and is also a common cause of miscarriage.<\/p>\n
WHAT ARE THE SIGNS AND SYMPTOMS?<\/p>\n
A child with Down\u2019s has an almost unmistakable facial appearance.\u00a0 All Down\u2019s children do not have the same features, but some of the more common ones include:<\/p>\n
\u2022\u00a0\u00a0\u00a0 Flattened facial features
\n\u2022\u00a0\u00a0\u00a0 A small nose
\n\u2022\u00a0\u00a0\u00a0 Oddly shaped ears
\n\u2022\u00a0\u00a0\u00a0 A protruding tongue
\n\u2022\u00a0\u00a0\u00a0 Upward slanting eyes<\/p>\n
Affected children may also have<\/p>\n
\u2022\u00a0\u00a0\u00a0 Relatively short fingers
\n\u2022\u00a0\u00a0\u00a0 Poor muscle tone or flaccid muscles
\n\u2022\u00a0\u00a0\u00a0 A single crease in the palm of the hand \u2013 a Simian crease
\n\u2022\u00a0\u00a0\u00a0 Excessive flexibility<\/p>\n
Children born with Down\u2019s may be of average size, but they typically grow slowly and end up being smaller, certainly shorter, than children of similar age.<\/p>\n
WHAT CAUSES DOWN\u2019S SYNDROME?<\/p>\n
Remember that each human cell normally contains 23 pairs of chromosomes.\u00a0 One chromosome from each pair comes from dad, the other from mom.\u00a0 That is why many of us have some ways or features of our mother and some of our father.<\/p>\n
Now, follow me here.\u00a0 Each CELL has 23 pairs or 46 chromosomes.\u00a0 If each parent were to pass on their full complement to the child, the child would have 46 pairs or 92.\u00a0 Maybe this can happen in space aliens, but not humans.\u00a0 How is the child formed?\u00a0 From the fertilization of the woman\u2019s egg with the man\u2019s sperm, that is their coming together.\u00a0 So in order for the father not to carry all his 46 (23 pairs) chromosomes, and likewise the mother her 46 (23 pairs) to the child, a division by half, called meiosis, of the gametes (sperm and egg cells\u2019 chromosome pair) must take place.\u00a0 So the sperm cell brings to the child one of the pairs of 23 and the egg cell brings the other of the pairs of 23 chromosomes.\u00a0 One from each parent makes a pair, 23 pairs.\u00a0 Follow?<\/p>\n
Down\u2019s syndrome is caused by one of three types of abnormal cell division involving the 21st chromosome.\u00a0 These include:<\/p>\n
\u2022\u00a0\u00a0\u00a0 Trisomy 21.\u00a0 Faulty chromosome division during formation of the egg or sperm results in an embryo (developing fetus) with three rather two chromosome 21\u2019s.\u00a0 This is the most common cause, accounting for up to 92 percent of all Down\u2019s cases.
\n\u2022\u00a0\u00a0\u00a0 Translocation.\u00a0 During chromosome division, part of chromosome 21 separates and attaches to another chromosome.\u00a0 This accounts for 3 to 4 percent of all cases.
\n\u2022\u00a0\u00a0\u00a0 Mosaicism.\u00a0 For the embryo to grow into a child, mitosis (division of the cells of the fertilized egg) must occur millions of times over.\u00a0 What happens in mosaicism is that in the early life of an embryo, abnormal cell division occurs, resulting in some cells with the normal 46 (23 pairs) chromosomes while others have 47 \u2013 a mosaic of normal and abnormal cells.\u00a0 This accounts for between 2 and 4 percent of Down\u2019s cases.<\/p>\n
Incidentally, no known behavioral or environmental factors are known to play a role in Down\u2019s.<\/p>\n
WHAT ARE THE RISK FACTORS?<\/p>\n
A woman\u2019s chances of giving birth to a child with Down\u2019s increases with her age. At age 35, there is a one in 400 chance, at age 40, it is one in 105, and by age 49, there is a one in 12 chance of having a child with Down\u2019s.\u00a0 You see, all the eggs a woman will ever have, she has at birth; she cannot make anymore.\u00a0 So, as the years go by, they age in her ovaries and therefore, there is a greater possibility for chromosomes to divide improperly at meiosis.\u00a0 But wait, let\u2019s not blame it all on the woman though.\u00a0 Remember that improper divisions of the chromosomes can occur in the male too.\u00a0 So it means that a woman aged 25 can produce a Down\u2019s child.\u00a0 I know a lot of women start panicking when they hit between 25 and 30 and haven\u2019t conceived yet, thinking they must end up with a Down\u2019s child.\u00a0 My mother had me at 40 and my last brother at 45.\u00a0 We\u2019re all normal, as far as I know, I mean we haven\u2019t got Down\u2019s anyway.<\/p>\n
Typically, a mother who has one child with Down\u2019s has about a 1% chance of having another.<\/p>\n
HOW TO SCREEN AND DIAGNOSE<\/p>\n
There\u2019s no way to screen for Down\u2019s before pregnancy.<\/p>\n
SCREENING TESTS DURING PREGNANCY.<\/p>\n
We will often perform screening tests to determine if your fetus has an increased chance of Down\u2019s at about the 16th week of pregnancy.<\/p>\n
Blood tests such as the triple screen or the maternal serum alpha-fetoprotein (MSAFP) test identifies levels of certain biochemical markers, such as HCG, (Human chorionic gonadotropin, AFP (Alpha-fetoprotein), and estriol in the mother\u2019s blood stream. A fetus with Down\u2019s usually gives values that ate altered from those that occur in a normal pregnancy.\u00a0 It is not a certainty for Down\u2019s but it identifies the possibility and prompts us to do more tests.\u00a0 Bear in mind that a normal screening test doesn\u2019t guarantee Down\u2019s isn\u2019t present, only that the likelihood is lessened.\u00a0 In fact, only 60 percent of babies are identified by an abnormal blood screening test.<\/p>\n
You may want to confirm a positive screening test by specific diagnostic tests, which include:<\/p>\n
\u2022\u00a0\u00a0\u00a0 Amniocentesis.\u00a0 A sample of amniotic fluid (the fluid bathing the baby in the womb) is withdrawn through a needle inserted into the womb, when the fetus is between 14 and 18 weeks old.\u00a0 The chromosomes of the fetus are analyzed in this fluid. There\u2019s a risk of miscarriage from this procedure ranging from one in 200 to one in 400.
\n\u2022\u00a0\u00a0\u00a0 Chrionic villus sampling (CVS) Cells taken from the mother\u2019s placenta (the afterbirth) can be used to analyze the fetal chromosomes.\u00a0 This is performed between the 10th and 12th week of pregnancy. (Obviously this is done before even a screening test which is done at about 16 weeks.\u00a0 There is a 1% chance of miscarriage from this procedure.
\nThese three tests are accurate to between 98 and 99 percent in diagnosing Down\u2019s before birth.<\/p>\n
DIAGNOSTICS TEST FOR NEWBORNS<\/p>\n
After birth, the baby\u2019s features may give it away if it has Down\u2019s.\u00a0 If not, the doctor may do a karyotype, an analysis of the chromosomes.\u00a0 If there\u2019s an extra chromosome 21, there is Down\u2019s.<\/p>\n
COMPLICATIONS<\/p>\n
These include some type of heart defect, sometimes requiring surgery in early infancy, gastro intestinal blockage, thyroid problems, hearing loss, or poor vision.<\/p>\n
Others include:<\/p>\n
\u2022\u00a0\u00a0\u00a0 Leukemia.\u00a0 Down\u2019s kids have a 10 to 15 times the risk to develop this compared to normal children.
\n\u2022\u00a0\u00a0\u00a0 Infectious diseases.\u00a0 Because of an underdeveloped immune system, Down\u2019s kids are more open to a number of infections.
\n\u2022\u00a0\u00a0\u00a0 Impaired intellectual development.\u00a0 This is almost always certain but need not be severe.\u00a0 Mild cases occur.
\n\u2022\u00a0\u00a0\u00a0 Dementia.\u00a0 Down\u2019s sufferers have a high risk of dementia, often before age 40.<\/p>\n
The lifespan of Down\u2019s children has increased over the years, but is still quite low, average about 40.<\/p>\n
They are being better integrated into society, are being cared for better through a variety of programs specifically designed to address their needs.\u00a0 Let\u2019s continue to keep things up for Down\u2019s kids.<\/p>\n
See you next week.<\/p>\n","protected":false},"excerpt":{"rendered":"It\u2019s probably safe to say that many of us have known and teased a child we used to describe as \u201cMongoloid.\u201d\u00a0 This term is now politically incorrect (Please, I am not talking politics for anybody).\u00a0 I just mean that nowadays,…","protected":false},"author":15,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_cbd_carousel_blocks":"[]","footnotes":""},"categories":[49],"tags":[],"class_list":["post-37084","post","type-post","status-publish","format-standard","hentry","category-health-talk"],"acf":[],"yoast_head":"\n