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What Is Down Syndrome?

Down syndrome is combination of some physical as well as mental attributes that are due to problems in gene that occur before birth. The children who are born with Down syndrome have some characteristic features that distinguish them from the kids who do not have Down syndrome. The characteristic features include flat face and short neck. The child also has mild to moderate intellectual disability.

It is a lifelong condition.

Causes of Down syndrome

The disease arises due to the issues with the chromosomes of the child. Normally, a healthy person possesses 46 chromosomes. The kids who are born with Down syndrome have 47 chromosomes.

Symptoms of Down syndrome

The symptoms of Down syndrome vary from individual to individual. Developmental as well as intellectual problems vary from mild to moderate to severe. Some children are healthy, while some pose with serious health issues like heart defects.

The facial features of the kids and adults with Down syndrome are also quite distinct. Not every person suffering from Down syndrome has these features though. The common features are:

  • Small head
  • Flattened face
  • Short neck
  • Palpebral fissures (Upward slanting eye lids)
  • Protruding tongue
  • Small and unusually shaped ears
  • Small hands and feet
  • Broad and short hands with single crease in palm
  • Short fingers
  • Tiny white spots on iris (colored part of eye) known as Brushfield’s spots
  • Poor muscle tone
  • Excessive flexibility
  • Short height

Infants have average size, but grow slowly. They remain shorter than the other kids of the same age.

Intellectual disabilities

  • Delayed language
  • Short- term or long- term memory of the sufferer is affected

Diagnosis of Down syndrome

Every pregnant woman is advised to undergo screening tests and other diagnostic tests for Down syndrome.

Undergoing screening tests help in detecting the susceptibility of the mother carrying a child who is affected by Down syndrome. But, the tests cannot offer surety of the diagnosis made by them.

There are certain diagnostic tests that help in the correct diagnosis of Down syndrome.

Treatment of Down syndrome

Early diagnosis of Down syndrome in infants contributes to the betterment of the quality of life of the child suffering from Down syndrome. Every single child born with this genetic disorder is unique and requires treatment as per. Different stages of Down syndrome require different treatment approach.

Team care

A child having Down syndrome needs a team of specialists that offer optimum medical care. The team also helps the child to develop his skills as much as possible. The team comprises of primary care pediatrician who could coordinate and offer the routine childhood care, pediatric cardiologist, pediatric endocrinologist, pediatric gastroenterologist, pediatric ear, nose and throat (ENT) specialist, developmental paediatrician, pediatric eye doctor (ophthalmologist), pediatric neurologist, audiologist, physical therapist, speech pathologist and occupational therapist.

The parents must be prepared to make some paramount decisions regarding the treatment and education of their child. A team of teachers, therapists and health care providers should be put to action to give the child a healthy and comfortable environment.