Down syndrome is named after John Langdon Down, The British Doctor who first described the condition in 1887. But in 1959 an extra chromosomes was identified as the cause of this abnormality. Usually, a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, a child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. It’s this extra genetic material that causes the physical features and developmental delays associated with DS. The Day March 21st is annually observed to raise awareness to public about Down syndrome, a genetic disorder caused by having an extra 21stchromosomes.
I personally like one of the beautiful verses of Quran:
“Allah-SWT created mankind as the comeliest of all creations, by way of disposition and outlook, limbs and joints, intellect and wisdom, thought and understanding”
Although people having Down syndrome are weak in their developments yet they are living beautiful creature of Allah, So 21st march is a perfect time to bring your family and community together in raising awareness for people with the disease. It is very important to stimulate, encourage, and educate children with Down syndrome from infancy.
It is one of the most common causes of human birth defects. Symptoms of Down syndrome vary from person to person and can range from mild to severe. However, children with disease have a widely recognized appearance. Most commonly observed symptoms or sign are:
- Flattened nose
- Separated joints between the bones of the skull (sutures)
- Single crease in the palm of the hand
- Small ears
- Small mouth
- Upward slanting eyes
- Decreased muscle tone at birth
- Excess skin at the nape of the neck
- Wide, short hands with short fingers
As discussed earlier, physical development is often slower than normal. Most children with Down syndrome never reach their average adult height. Children may also have delayed mental and social development. Common problems may include:
- Impulsive behavior
- Poor judgment
- Short attention span
- Slow learning
As children with Down syndrome grow and become aware of their limitations, they may also feel frustration and anger.
Prognosis and Diagnosis of Down syndrome:
A physician can often make a preliminary diagnosis of Down syndrome at birth based on how the baby looks. The doctor may hear a heart murmur when listening to the baby’s chest with a stethoscope. A blood test can also be done to check for the extra chromosome and confirm the diagnosis
Other tests that may be done include:
- •Echocardiogram to check for heart defects (usually done soon after birth)
- X-rays of the chest and gastrointestinal tract
- If the God forbid disease is diagnosed persons need to be closely screened for certain medical conditions. They should have:
- Eye exam every year during infancy
- Hearing tests every 6 – 12 months, depending on age
- Dental exams every 6 months
- X-rays of the upper or cervical spine between ages 3 – 5 years
Training and treatments:
There is ‘no specific’ treatment for Down syndrome discovered yet. A child born with a gastrointestinal blockage may need major surgery immediately after birth. Certain heart defects may also require surgery. Obesity can become a problem for older children and adults. Getting plenty of activity and avoiding high-calorie foods are important. Before beginning sports activities, the child’s neck and hips should be examined.
Behavioral training can help people with Down syndrome and their families deal with the frustration, anger, and compulsive behavior that often occur. Parents and caregivers should learn to help a person with Down syndrome deal with frustration. At the same time, it is important to encourage independence. Special education and training is offered in most communities for children with delays in mental development. Speech therapy may help improve language skills. Physical therapy may teach movement skills. Mental health care can help both parents and the child manage mood or behavior problems. Special educators are also often needed.
Risk associated with Down syndrome:
- Persons with Down syndrome are living longer than ever before. Although many children have physical and mental limitations, they can live independent and productive lives well into adulthood.
- Persons with Down syndrome have an increased risk for certain types of leukemia, which can also cause early death.
- The level of intellectual disability varies from patient to patient, but is usually moderate. Adults with Down syndrome have an increased risk for dementia.
Though Down syndrome can’t be prevented, it can be detected before a child is born. The health problems that may go along with DS can be treated, and many resources are available to help kids and their families who are living with the condition. According to the UN reports, it affects about 1 in 800 births worldwide, causing intellectual disability and associated medical issues.
Early intervention programs, including physical therapy, occupational therapy, and speech therapy can be very helpful. Experts recommend genetic counseling for persons with a family history of Down syndrome who wish to have a baby.
A woman’s risk of having a child with Down syndrome increases as she gets older. The risk is significantly higher among women age 35 and older.
Couples who already have a baby with Down syndrome have an increased risk of having another baby with the condition.
Down syndrome is something you are born with. You can’t take it away from yourself. I’ll always be a little slow and need help with my reading but I am still a person with feelings.” Robin Trocki (52 years young)
An organization, Pakistan Down Syndrome Association (PDSA) was established in 2009. The purpose of this DPO was to raise awareness about rights of Down syndrome children in Pakistan. People are unaware about the Down syndrome and its identifications. There are hundreds of Down syndrome children in Pakistan, they are not visible. People have hidden their children into homes. PDSA is committed to make the people of this country aware about Down syndrome children and promotion of rights of children.
Let me ask you something. If no matter what you did and your society wouldn’t accept you wouldn’t you feel frustrated? Most individuals with Down syndrome or any other disfunctionality have the ability to soften the hardest of hearts. They measure ones value by the size of smile and the sound of their laugh. And what do we do in return? Call them retarded, ignore them, tie them with chains and let them get frustrated with their life. They just want to say
Please don’t ignore us, or look the other way when we approach you.Doing that to us will not make us or our disability go away.
We didn’t have a choice about our disability, but you definitely have a choice in how you accept us!
Pakistan Science Club, National Academy of Young Scientists®, The Emerging Nations Science Foundation, Italy and Pakistan Science Foundation trying to make people of Pakistan aware of the importance of these special creation and teach for promoting them to participate in all sorts of social and educational activities. Let us remove all barriers from the path of such special peoples. These efforts also focus on encouraging independence, self-advocacy and freedom of choices for people with Down syndrome.
Article: Zaryab Khalid Sial
World Down Syndrome Day- March 21st
Source: (NAYS) Pakistan