World Down Syndrome Day. byWyn Evans accounts for 95% of all cases. The other two types are called translocation (2%) and mosaicism (3%). Regardless of which type a person has, everyone with DS has an extra or partial copy of chromosome 21. (The nucleus of a typical cell contains 23 pairs of chromosomes, or 46 total chromosomes. Each of these chromosomes determines something about us, from our hair colour to our sex.)
Most readers of the Cardiff Times will be receiving delivery of these pages on or about the third week of March. Since World Down Syndrome Day (WDSD) falls on 21st March and my sixteen year old daughter, The Girl, has Down syndrome, now is a good time to tell you a little more about this condition. John Langdon Down was a Cornish doctor best known for classifying in 1862 the genetic condition which now bears his name[1]. Stylistically, ‘Down’s syndrome’ is used more commonly than ‘Down syndrome’ but both are acceptable. Note that with the use of person-first terminology we would say that someone ‘has DS’ rather than ‘suffers from or is a victim of DS’. Also that DS is a genetic condition rather than a disease, illness or handicap. But best avoid the solecism ‘a Down’s baby/child/person’ at all times. In December 2011, the United Nations General Assembly decided, with effect from 2012, to observe WDSD on 21 March each year, in order to raise public awareness of DS. The reason for WDSD being the on 21st day of the 3rd month, was to signify the uniqueness of the triplication (trisomy) of the 21st chromosome which causes DS. This is why it is also called Trisomy 21. While the condition may be thought of as a singular syndrome, there are actually three different types. Trisomy 21 is the most common. It 4 CARDIFF TIMES
The baby develops an extra copy of the 21st chromosome during pregnancy, resulting in distinctive signs and symptoms in addition to developmental and intellectual difficulties. The way the condition presents itself in each person will differ. Some people will have mild to moderate intellectual and developmental problems, while others might have more severe complications. The same goes for health, where some people with DS may be healthy, while others could have a variety of complications, such as heart defects, thyroid problems, hearing loss, cataracts, or delays with speech and language development. DS causes many distinct characteristics, like: a small stature; upwardly slanting eyes; a flattened bridge of the nose; and a short neck. However, each person will have different degrees of the characteristics, and some of the features may not appear at all. People are often surprised when I tell them that people with DS look more like members of their own families than they do with each other, but it’s true! It is estimated that about 41,700 people with DS live in the UK where approximately 700 babies are born with DS annually. The proportion of women having a termination after a prenatal diagnosis of DS has decreased from 92% in 1989-2010 to 90% in 2011-2013 in the UK. The median life expectancy for people with DS is 58 years. Adults with DS have an increased chance of developing Alzheimer’s dementia after age 40. People with DS have the same feelings and moods as everyone else. Many children with DS attend mainstream school, like The Girl, and many adults can live independently and hold down jobs. People with DS are NOT ‘always happy’ and teenagers with DS can throw a strop just as effectively as their typically developing peers! Maternal age is the only certain risk factor for DS. Eighty percent of children with either trisomy 21 or mosaic DS are born to mothers who are younger than 35 years old. Younger women have babies more frequently, so the number of babies with DS
