March 21st 2014 marks the 9th anniversary of World Down Syndrome Day. Down Syndrome International encourages friends all over the world to choose activities and events to help raise awareness of what Down syndrome is, what it means to have Down syndrome, and how people with Down syndrome play a vital role in our lives and communities. The theme for this year is: “Health and Wellbeing – Access and Equality for All”.
What is Down syndrome?
Down syndrome is a genetic disorder that causes lifelong mental retardation, developmental delays and other problems. Down syndrome varies in severity, so developmental problems range from moderate to serious. Down syndrome is the most common genetic cause of learning disabilities in children.
What are the symptoms of individuals with Down syndrome?
Children with Down syndrome have a distinct facial appearance. Though not all children have the same features, some of the more common features are:
• Flattened facial features
• Small head
• Short neck
• Protruding tongue
• Upward slanting eyes, unusual for the child’s ethnic group
• Unusually shaped ears
Children with Down syndrome may also have:
• Poor muscle tone
• Broad, short hands with a single crease in the palm
• Relatively short fingers
• Excessive flexibility
Infants with Down syndrome may be of average size, but typically they grow slowly and remain shorter than other children of similar age. In general, developmental milestones, such as sitting and crawling, occur at about twice the age of children without impairment. Children with Down syndrome also have some degree of mental retardation, most often in the mild to moderate range.
What causes Down syndrome?
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.
Down syndrome results when one of three types of abnormal cell division involving chromosome 21 occurs. All three cell division abnormalities result in extra genetic material from chromosome 21, which is responsible for the characteristic features and developmental problems of Down syndrome. The three genetic variations that can cause Down syndrome include: Trisomy 21, Mosaic Down Syndrome and Translocation Down Syndrome. In more than 90 percent of the time Down syndrome is caused by trisomy 21. A child with trisomy 21 has three copies of chromosome 21 — instead of the usual two copies — in all of his or her cells. This form of Down syndrome is caused by abnormal cell division during the development of the sperm cell or the egg cell.
There are no known behavioral or environmental factors that cause Down syndrome.
Is Down syndrome inherited?
Most of the time, Down syndrome is not inherited. It is caused by a mistake in cell division during the development of the egg, sperm or embryo.
Translocation Down syndrome is the only form of the disorder that can be passed from parent to child. Only about 4 percent of children with Down syndrome have translocation, and only about half of these children inherited it from one of their parents.
DOWN SYNDROME – Health and Wellbeing – Access and Equality for All”
In keeping with the theme for this year’s World Down Syndrome Day the following points need to be focused on. All people with Down syndrome have the right to access healthcare, when required, on an equal basis with others without discrimination and with proper assessment of the specific health needs of the individual. The following also need to be highlighted:
• Having Down syndrome does not make a person unhealthy.
• Down syndrome is a genetic condition, not an illness.
• People with Down syndrome may have health issues throughout their lives, just like everyone else, and they should have access to healthcare on an equal basis with others.
• There are specific known health issues which may affect people with Down syndrome, for which accurate evidence – based information is available.
• Health professionals should be aware of these specific issues when treating a person with Down syndrome.
• Health professionals should not discriminate against people with Down syndrome by:
refusing to treat them;
blaming health issues on Down syndrome in general.
Do not believe misinformation about Down syndrome
Some people believe that children with Down syndrome must be placed in segregated special education schools and those adults with Down syndrome usually live in institutions. This not true. Many people with Down syndrome live with their families or independently, go to mainstream schools, read and write, and have jobs. People with Down syndrome can live fulfilling lives.
Conclusion
Down syndrome is one of the most common genetic birth defects, and the most common form of Down syndrome is often called “trisomy 21”. No one knows exactly why this chromosomal error occurs, but it does appear to be related to the age of the mother. If you are pregnant or planning to become pregnant be sure to check with your gynaecologist/obstetrician especially if you have a family history of Down syndrome. Individuals with Down syndrome must not be discriminated against and should have access to healthcare like other children. Many individuals with Down syndrome go on to have fulfilling lives.
Ask Your Doctor is a health education column and is not a substitute for medical advice from your physician. The reader should consult his or her physician for specific information concerning specific medical conditions. While all reasonable efforts have been made to ensure that all information presented is accurate, as research and development in the medical field are ongoing, it is possible that new findings may supersede some data presented.
Dr Brett Hodge is an Obstetrician/Gynaecologist and Family Doctor who has over thirty years in clinical practice. Dr Hodge has a medical practice in The Johnson Building in The Valley (Tel: 264 4975828).
