Down’s Syndrome

The Down’s syndrome (named after John Langdon Down, the British physician who first described it), is a genetic disorder that affects the mental development and physical appearance of a person. It is caused due to chromosomal abnormalities, and affects approximately 1 child out of 600. It occurs if a baby has three copies of chromosome 21 instead of the normal two copies; hence, the disorder is also known as Trisomy 21. Initially known as mongolism, the name was dropped by WHO in 1965 due to objections from the Mongolian delegate, and was changed to Down’s syndrome.

Factors that pose risk of Down’s syndrome
The chances of a child acquiring the Down’s syndrome due to an abnormal egg (ovum) are higher than those of acquiring it through an abnormal sperm. If the woman has conceived at an advanced age, the child is again at a greater risk of acquiring Down’s syndrome. Every 1 child out of 1500 children is born with Trisomy21 in mothers, who conceive at the age of 20 but the ratio changes to 1 child out of every 100 for women who conceive at the age of 40. A woman, whose 1st child has Down’s syndrome, is at a greater risk of delivering her second child with the same disorder.

Characteristics of Down’s syndrome
Children suffering from this genetic disorder have a short stature and are slow learners. They may even show various disabilities that vary according to the severity of the disorder. The symptoms and physical characteristics include:

  • Round face with full cheeks
  • Eyes that are slanted upwards, skin folds covering the inner corners of the eyes
  • Protruding tongue
  • Flattened back of the head
  • Excess skin folds at the back of the neck
  • Short stubby hands and a single crease traversing on the palm
  • Floppy limbs
  • Sometimes there may be white spots on the iris of the eye
  • As development in these children is not normal, loose ligaments and poor muscle tone is also very common
  • Patients suffering from this disorder are more likely to develop Alzheimer’s during late middle age or at a later stage

Complications and diseases that can affect patients with Down’s syndrome

  • There is a likelihood of abnormalities and disorders of the heart
  • Abnormalities in the digestive tract are likely
  • Children with Down’s syndrome are more prone to catching infectious diseases
  • There may be ear infections and accumulation of fluid in the ear and this may lead to impaired hearing
  • The person may suffer from dementia, later in life
  • These children are at a greater risk of suffering from sleep apnoea
  • Other issues like premature ageing, obesity, thyroid related problems, seizures and loss of vision may also arise in such patients.

During the early stages of pregnancy, the doctor can conduct blood tests and ultra sound to determine if the baby is at a risk of developing Down’s syndrome. A thickening at the back of the neck of a developing foetus also suggests the possibility of this disorder. Sometimes, the disorder may be diagnosed until the baby is born; it is only confirmed after a blood test, which indicates the presence of an extra copy of chromosome 21.

Treatment and support for children with Down’s syndrome
Special care, physiotherapy, and speech therapy treatments are now available, and the child suffering from Down’s syndrome as well as the family of the child get good care and support from professionals. The teaching methods employed by these professionals are more profound, and as the child gets an easy access to such specially designed educational programmes, he/she acquires skills that allow him/her to be self sufficient. However, children born with Down’s syndrome not only need love and care but also the support of their parents, teachers and society.

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