Down’s syndrome or Down syndrome is a chromosomal disorder brought about by the occurrence of an extra chromosome in someone’s genetic makeup. This extra chromosome has resulted in the condition also being referred to as trisomy 21. The disorder was named after British doctor John Langdon Down. Dr. Down originally referred to condition as the ‘Mongolian type of idiot’. For this reason people with Down Syndrome are sometimes referred to as “Mongoloids.”
Down Syndrome Statistics
Down syndrome occurs in roughly 1 out of every 800 to 1000 live births in the USA. Experts seem to agree that this risk increases with advanced maternal age. The condition can lead to still births or fetal deaths. The website wrongdiagnosis.com states that the odds of a woman over 35 having a baby with the medical condition are one in 400. Interestingly, the same site noted that 80 percent of children born with the condition are to mothers younger than 35.
Data gathered on the condition has shown that sufferers are more likely to have congenital heart defects. It is also known that the syndrome increases the risks of developing leukemia. As a further sign of the developmental impact of the disorder, it is believed that all sufferers will display some signs of Alzheimer’s disease by the time they are 35-years old.
The Characteristics of Down Syndrome
People with Down syndrome often share physical, medical and cognitive (mental) characteristics. The signs may vary from person to person, especially as they relate to cognitive development. The most obvious characteristics are discussed below.
Physical Characteristics
There are certain physical manifestations that are linked to people with the disorder, particularly regarding facial features. These features usually make it easy to spot persons who have the condition, although they may be more apparent in some than in others. One of the most recognizable characteristics of persons with Down Syndrome is almond shaped eyes with an upward slant. The shape of the eyes is caused by what is known as an epicanthic fold, which basically refers to the way the skin of the eyelid folds above the eye. The muscles of the eyelid are thought to be weaker in these individuals.
One of the lesser known features is a single crease across one or both palms instead of two creases in persons without trisomy 21. These individuals also tend to have poor muscle tone and shorter than average limbs. To the casual observer, a person with Down syndrome may appear to be slightly overweight because of the lack of muscle tone. Another feature of the disorder is that the space between the big and second toes tends to be larger than average. Often they have tongues that protrude.
Some of the most obvious physical traits are:
• Disproportionate head compared to body size
• Flat face
• Eyes that slant upwards
• Faces that are rounder and broader than normal
• Small ears and mouth
• Short neck
Medical Characteristics
Apart from the obvious physical characteristics, persons with Down syndrome also have certain medical conditions. In addition to the cardiac problems discussed above, there is generally an issue with weakened immune system, especially in children. This results in more frequent bouts of normal childhood illnesses such as the common cold. Other health problems include:
• Poor vision
• Epilepsy
• Hearing impairment
Cognitive Characteristics
Persons with Down syndrome tend to have varying levels of mental retardation. This results in problems with cognitive skills. The condition is often associated with some level of mental retardation or learning disabilities. In a few cases, the level of retardation may be severe. These individuals are also slower to develop social and practical skills, but not all at the same rate. Often language skills may be slow to develop as well as adaptive thinking that helps people function in everyday life.
The disabilities cannot be treated but many such individuals manage to exceed expectations in terms of what they can accomplish. It is important that limitations not be imposed upon them. Rather they should be allowed to attempt to excel in whatever area they choose. With the right education and care, persons with Down syndrome can have fulfilling and healthy lives.
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