World Down Syndrome Day has been officially observed on 21st March by the United Nations since 2012. It is a day which helps to raise awareness of the condition and looks at the role people with Down syndrome play in our communities. To mark the event, Health & Life spoke to Aisha Ahmadi, Lecturer at Qatar University’s Department of Clinical Mental Health Counselling Psychology, to find out more about Down syndrome.
Down syndrome, also known as Trisomy 21, is caused by a genetic abnormality. Each cell present in the human body contains 23 pairs of chromosomes (or 46 chromosomes). People with the condition are born with extra genetic material from chromosome 21, and thus have 47 chromosomes in cells instead of 46. Although Down syndrome has a single cause (the extra 21st chromosome), it affects people differently. Each individual has their own abilities, strengths, weaknesses and unique personality.
Individuals with the condition have unique cognitive, behavioral and physical characteristics. However, many share certain features, and some of the most common include:
- Low muscle tone
- Upward slanting eyes
- Wide short hands with short fingers
- A single deep crease across the palm of the hand
- Small ears
- Large or protruding tongue
- Slow learning
- Short attention span
- Late language and speech development
- Impulsive behavior
While it may take children with Down syndrome longer to develop certain skills, the common misconception that they have a pre-determined ability to learn is simply not true. In fact, it is impossible to predict the degree of mental cognition at birth, which is why it is important that their learning potential is supported with early intervention, a good education and plenty of positive encouragement.
Down syndrome is associated with several health conditions.
- Heart problems are one of the earliest concerns, and need to be investigated even before birth. An ultrasound during pregnancy will predict any problems that could occur during gestation or delivery.
- Hearing and vision problems in newborns with Down syndrome might lead to blindness and deafness, and should therefore be investigated by specialists.
- Sleeping disorders are another common health concern. Obstructive sleep apnea has been noticed in many individuals with Down syndrome. The principle symptoms to look out for are: snoring, waking up many times at night, breathing difficulties and/or pauses in breathing while sleeping and being sleepy during the daytime.
- The special characteristics distinctive to individuals with Down Syndrome make them more prone to issues such as depression, anxiety and obsessive compulsive behaviors.
Despite the fact these health concerns, and thanks to the developments in medicine today, individuals with Down syndrome have much longer life expectancy than in the past.
Risk Factors and Testing
According to the World Health Organization, 10 to 11 children with Down syndrome are born for every 10,000 live births worldwide. Some parents are at higher risk of having a baby with the condition:
- Women aged 40 years old and above.
- Parents who already have a Down syndrome child.
- Parents who are carriers of the genetic translocation for Down syndrome.
If you are concerned about your risk, it is possible to test for the condition with an amniocentesis, a procedure in which amniotic fluid is removed from the sac surrounding the fetus between the 15th and 18th week of pregnancy. This fluid is then sent for analysis to determine whether the unborn child has Down syndrome. An amniocentesis can help parents to plan the care for their baby and ensure they give their child the best possible start in life.
It’s important to remember that Down syndrome affects each person differently. Individuals with the condition are each unique and have their own abilities, talents, thoughts and interests. Down Syndrome Day celebrates their many facets, and the role they play in our lives and communities.References