Downs Syndrome Introduction   Throughout the 20th century, advances in medicine and science enabled researchers to investigate the characteristics of people with Down syndrome (DS).  It was in 1959 that Jerome Lejeune, a French physician, identified Downs Syndrome as a chromosomal variance.  Prior to this discovery, the characteristics of those with Down syndrome had been observed and not understood.  In the late 19th century, John Langdon Down, an English physician, published an accurate description of an individual with Down syndrome.  It was his work that earned Down the recognition as the namesake of this condition.   Today, Downs Syndrome is the most well researched genetic disorder.  It is characterized by varying degrees of physical and mental retardation, ranging from mild to severe symptoms.   Downs Syndrome is specifically a chromosomal disorder.  Chromosomes are the cellular material obtained from our parents, containing the DNA or ‘blueprint' that determines our genetic makeup.  We normally have 23 pairs of chromosomes.  However, in persons with Downs Syndrome there is extra genetic material resulting in three copies of chromosome 21.  For this reason, Downs Syndrome is also called Trisomy 21. [1]  In a small percentage of people with Downs Syndrome, some have an extra bit of chromosome 21 attached to another chromosome, usually chromosome 14.  This is called translocation.  Finally, an even smaller percentage have a mixed of "mosaic pattern," meaning that some cells have a normal amount of genetic material,  while others have an extra chromosome 21. [2]   The diagnosis of Downs Syndrome is usually suspected after the baby is born and is determined by the infants uncommon physical characteristics.  There are blood screening and diagnostic tests that can be performed prior to birth, which can provide more information about the unborn child.  Blood screening tests are only about 60% accurate, and can sometimes lead to either a false positive (meaning the test incorrectly indicates that a fetus has Downs Syndrome) or false negative (meaning the test failed to diagnose a fetus with Downs Syndrome).  However, blood screening that is done by taking the mother's blood is less invasive than diagnostic tests and can also be done between 15 and 20 weeks of gestation. While diagnostic tests have a high accuracy rate, they are more invasive and have a risk of causing a miscarriage. This test typically involves sampling the amniotic fluid surrounding the fetus inside the womb.   The risk of having a Downs Syndrome baby increases in women over the age of 35, but because of the higher fertility rates in younger women, most Downs Syndrome babies are born to those younger than 35.  There is speculation that in older expecting women, the aging immune system's ability to police the fetus for chromosomal abnormalities decreases.  This would, theoretically, lead to older women carrying Downs Syndrome babies to term, as compared to younger woman who would spontaneously abort a fetus with extra genetic material.     Downs Syndrome Symptoms   Children with Downs syndrome have varied sign and symptoms in fact there are over 50 clinical signs, but it is rare to find all of them in one person.  Although there is some fluctuation in manifestation, all people with Downs Syndrome have a distinct facial appearance.  Some of the more common features are [3, 4]: Small nose Flattened face Upward slanting eyes Unusually shaped ears Short neck Small head Small oral cavity Other common characteristics: Broad feet with short toes Hyperflexibility Poor muscle tone A single crease in the palm Short, broad hands with short fingers It is common for those with Down syndrome to suffer from other health related problems: Tendency towards obesity Propensity towards respiratory infections Visual problems such as crossed eyes, near or far sightedness Gastrointestinal problems Heart defects Atlantoaxial instability (misalignment of the top two vertebrae of the neck) Visual problems such as crossed eyes Low thyroid function (hypothyroidism) The physical characteristics of people with Downs Syndrome are not necessarily treated with specific intention; physical problems are treated more often with physical therapy so that the person can better function.  The medical conditions that accompany a person with Downs Syndrome are treated much the same way as in people without Downs Syndrome.  However, given the combinations that occur together in Downs Syndrome, specific treatments may be needed.     Downs Syndrome Statistics One of every 800 to 1000 live births is a Downs Syndrome baby, which represents about 5,000 births per year in the United States alone.   In the United States today, Downs Syndrome affects more than 350,000 people. [5]   Hearing loss of more than 15 to 20 decibels in at least one ear occurs is 66- 89% of Downs Syndrome children. [6]   There is about a 3% occurrence rate of cataracts in those with Downs Syndrome. [7]   As a woman ages, the chances of her giving birth to a baby with Down's tends to increase. Mother's age and Incidence of Down's Syndrome:   Mothers Age Incidence of Down's Syndrome Under 30 Less than 1 in 1000 30 1 in 900 35 1 in 400 36 1 in 300 37 1 in 230 38 1 in 180 39 1 in 135 40 1 in 105 42 1 in 60 44 1 in 35 46 1 in 20 48 1 in 16 49 1 in 12 Source: Hook, E.G., Lindsjo, A. Down Syndrome in Live Births by Single Year Maternal Age.     Learn More About Downs Syndrome Downs Syndrome Introduction Downs Syndrome Treatment Products helpful for Downs Syndrome   Learn More

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