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Details of Down�s Syndrome
(2008-10-03 17:41:22)
Down�s syndrome is a genetic disorder named after John Langdon Down, the doctor who first identified it. This genetic abnormality is caused by a defect of chromosome 21. During the 1950s, many people with this syndrome did not live past the age of 15. However, due to better understanding of this condition and medical advancement in treatment and care, today�s life expectancy of someone with Down�s syndrome is now between 60-65 years of age. Down�s Syndrome affects about one in every 1,000 babies, which means (in UK terms) that about 600 babies are born with Down�s syndrome each year in the UK.

There is currently no cure for the condition. However, there are treatments which can help someone with the syndrome to lead a more active and independent life. The severity of symptoms varies from person to person, affecting in many different ways. The most obvious symptoms relate to physical appearance.

Physical features of Down�s Syndrome may include a few or many of the following features: upward slanting eyes, small ears, protruding tongue, white spots on the iris (Brushfield spots), small mouth, short fingers, broad hands with a single crease across the palm, loose skin at the posterior neck, epicanthic folds, loose joints (�floppy babies�), muscle hypotonia and low birth weight. It is not difficult to understand that the physical development of children with Down�s Syndrome tends to be slower than that of other children of similar age. They may also be slower in social and mental development.

Down�s Syndrome is caused by chromosomal malformation. When a baby is conceived, it inherits genetics from both parents. This genetic material is usually transferred to the baby in the form of 46 chromosomes � 23 from each parent. Down�s Syndrome is caused by a fault with a chromosome called �21 chromosome�, which means that the child inherits an extra 21 chromosome. Thus the child is made up of 47 instead of 46 chromosomes. This unbalanced genetic make-up will affect physical and mental characteristics. There are actually three different types of Down�s Syndrome which are caused by different faults with chromosome 21.

There is nothing you can do to prevent this syndrome from occurring. What you do before or during your pregnancy will not affect the chances of your child developing Down�s. If you already have a child with Down�s Syndrome, there is a slightly increased risk of you having another child with the same condition. The chance of having a baby with Down�s Syndrome increases when the mother is over 35 years of age. For example, a 20-year-old woman has a 1 in 1,440 chance of giving birth to a Down�s Syndrome baby, whereas a 45-year-old woman has a 1 in 32 chance. Interestingly, around 80 percent of babies with Down�s are born to mothers under the age of 35 years. That�s solely because women under this age make up the majority of the childbearing population.

Antenatal screening for Down�s Syndrome consists of blood testing (chorionic villus sampling or amniocentesis) and ultrasound scanning (nuchal translucency scan). The blood tests involve taking either placental or amniotic samples to check certain hormonal and protein levels. During your pregnancy, you will have ultrasound scans at certain stages to check growth development of your baby. To ultrasound screen for Down�s Syndrome, you will undergo a special type of ultrasound, known as nuchal translucency, which focuses on measuring the space between the spine and the nape of the baby�s neck. Babies with Down�s normally have more fluid in this space than normal. Ideally, antenatal screening for Down�s Syndrome should be carried out by the end of the first trimester.

There is no cure for this syndrome, but there are a number of treatments that can improve quality of life. Early intervention programmes that are specially designed for children with disabilities focus on providing support to babies and children with Down�s Syndrome. Some children or people with Down�s experience very few health problems. However, others can be more severely affected with conditions such as heart defects, hearing problems, sight problems, thyroid problems, immune system problems and intestinal problems, all of which require extra medical care and attention. With help and support, many people with Down�s syndrome can live independent and active lives.

Garnett B Symonds, DO, LCSP, D.Hom (med) HMD, is an osteopath and a fellow of the British Institute of Homeopathy.
076-388-524. info@garnettsymonds.com.