History of Down Syndrome and useful information

e History of Down Syndrome In 1959 Professor Jerome Lejeune, a geneticist in Paris, discovered that Down Syndrome occurred as a result of a trisomy of chromosome 21. This means that instead of the usual 46 chromosomes in the cells of the body, there is an extra chromosome 21, making 47 chromosomes in all. Since then, other forms of the condition, which are much rarer, have been discovered, such as Translocation and Mosaicism. However, it was not until 1866 that the English doctor, John Langdon Down, first described the condition, which subsequently took his name. Approximately 94% of people with Down Syndrome have standard trisomy 21, 4% have a translocation and 2% mosaic Down Syndrome. In the vast majority of cases, Down Syndrome is not hereditary. What causes Down Syndrome? As yet we do not know what causes the presence of an extra chromosome 21. It can come from either the mother or the father, but most commonly from the mother. There is no way of predicting whether a parent is more likely to produce an egg or sperm with 24 chromosomes. There is a definite link with advanced maternal age for reasons yet unknown. However, most babies with Down Syndrome are born to women under the age of 35, as younger women have higher fertility rates. Nothing done before or during pregnancy can cause Down Syndrome. It occurs in all races, social classes and in all countries throughout the world. It can happen to anyone. For every 1,000 babies born in the UK, one will have Down Syndrome. This means that about 600 babies are born with Down Syndrome each year in the UK. Down Syndrome affects people of all ages, races, religious backgrounds and economic situations. It is estimated that there are around 60,000 people with Down Syndrome living in the UK, but since Down Syndrome has never been a notifiable condition, accurate figures are difficult to obtain.

How is Down Syndrome diagnosed? The diagnosis of Down syndrome is usually made soon after the birth of the baby because of the babys appearance. There are many physical characteristics associated with the condition, which may lead a parent or midwife, or other medical professional, to suspect that the baby has Down syndrome. Some of the features include:

Reduced muscle tone which results in hypotonia A flat facial profile, flat nasal bridge, small nose Eyes that slant upwards and outwards, often with a fold of skin that runs vertically between the lids at the inner corner of the eye (epicanthic fold) A small mouth which makes the tongue seem slightly large A big space between the first and second toe (sandal gap) Broad hands with short fingers and a little finger that curves inwards. The palm may have only one crease across it (single palmar crease) A below average birth weight and length at birth

Many of these features are found in the general population. Therefore a chromosome test (karyotype) would need to be carried out before a positive diagnosis could be made. This is done by analysing the chromosomes in the blood cells. Do people with Down syndrome have medical problems? Certain health problems are more common in people with Down syndrome than in the rest of the population. These include:

40-50% of babies with Down syndrome are born with heart problems, many of which require heart surgery A significant number of people with Down syndrome will have hearing and sight problems Thyroid disorder

Poor immune system Respiratory problems, coughs and colds Obstructed gastrointestinal tract

However, with advances and increased access to medical care most of these problems are treatable. None of these problems is unique to people with Down syndrome - they also occur in the rest of the population. It is also important to remember that some people with Down syndrome do not experience any health problems. Advances in treatment and increased access to medical care have also meant that people with Down syndrome are living much longer. Life expectancy is now put at 60-65, and many people with Down syndrome live even longer. How does Down syndrome affect development? All people with Down syndrome will have some degree of intellectual disability. Children with Down syndrome do learn to walk, talk and be toilet trained but in general will meet these developmental milestones later than their non-disabled peers. There is a wide variation in ability in people with Down syndrome just as there is in the rest of the population. Early intervention programmes which help in all areas of child development are now widespread. These programmes can include speech and physical therapy as well as home teaching programmes for the child and the family. Children and adults with Down syndrome can and do continue to learn throughout their lives just like the rest of the population. Fact or fiction? Children with Down syndrome are only born to older parents?

Fiction: 80% of children with Down syndrome are born to women younger than 35. However, the likelihood of having a child with Down syndrome does increase with the age of the mother. Children with Down syndrome are always happy? Fiction: People with Down syndrome have the same feelings and moods as everyone else. People with Down syndrome cannot form relationships? Fiction: People with Down syndrome are perfectly capable of forming all types of relationships with people they encounter in their lives, be it friendship, love or dislike. People with Down syndrome cannot have children? Fiction: Women with Down syndrome can and have had children. It has been recorded that two men with Down syndrome have become fathers. The information about fertility in people with Down syndrome is very outdated and based on research in institutions where men and women with intellectual disabilities were kept apart. All people with Down syndrome will eventually develop Alzheimers disease (dementia)? Fiction: Although many people with Down syndrome do develop dementia in their later years, this is by no means inevitable. Research indicates that the incidence of dementia in people with Down syndrome is similar to that of the general population only that it occurs 20-30 years earlier. Further information can be obtained from People with Down syndrome at all Ages by S. Trumble, The Genetics of Down Syndrome by A. Kessling & M.Sawtell, and The Immune System in Down Syndrome by M.A. Kerr on this site and from the Down Syndrome Association website www.dsa-uk.com. We strongly recommend that you view these and the Down Syndrome Medical Interest Group website

How to Raise a Child with Down Syndrome?

I would like to preface this article by saying that raising your child, irrespective of the physical or cognignitive capabilties, is no labor at all for a parent. The guidlines below are simply to guide new and expecting parents throgh some of the more unituitive aspects of their early experiences. Having my child, who happens to have Down Syndrome, is without a doubt one of the greatest aspects of my life; if you have any questions whatsoever, please dont hesitate to send me an email or submit to the forthcoming form on this site and lets start a dialog about you questions and concerns. Trisomy 21, better known as Down syndrome, is the most common chromosomal abnormality in humans. People with Down syndrome vary widely in how they are affected, but health problems and lagging development are common. Children with Down syndrome are special needs children who require special parents. The following are some guidelines that my wife and I have subscribed to. We hope they will help you with your journey. Step 1 Take care of yourself. When you first learn that you are the parent of a child with Down syndrome, you can feel overwhelmed. It helps to talk to other parents in the same situation. Contact the National Down Syndrome Society about support groups and other resources in your area. Step 2 Use attachment parenting to promote a strong bond with your child. By responding to her emotional cues, you can better to sense what she needs when she cant tell you. Involve other family, particularly siblings, in raising a child with Down syndrome. Everyone benefits from these relationships. Step 3

Find a good medical practitioner. People with Down syndrome are subject to many medical problems, with heart defects, vision and hearing problems most common. They should be screened by cardiologists, ophthalmologists and audiologists. Step 4 Enroll your child in Early Intervention Services soon after birth. Therapists and early childhood teachers come to your home to work on your childs development. Physical and speech therapies are usually indicated due to delays in these areas. Some degree of mental retardation may be present as well. By age three, your child is eligible for services through the school system. Learn all you can about special education services and rights in your state. Step 5 Learn from professionals what you can do at home to help your child develop. Children with Down syndrome often have weak muscle tone and can benefit from movement therapy. To help compensate for speech delays, you might teach your child sign language so that he can let those around him know what he wants. Step 6 Explore the role of diet in your childs life. Some people believe that people with Down syndrome have more difficulty with the typical American diet of high sugar, additives and preservatives. Try natural foods. If your child is subject to frequent ear infections, limit produce mucous-producing foods. Ask your doctor whether nutritional supplements like alphaketoglutaric acid are needed. Step 7 Enjoy and Love your child. Just like many things in life, parenting is improved by a good attitude. Down syndrome children are affectionate and approach life with an enviable joy. Parents, family and friends can profit from time spent with people with Down syndrome.