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Definition

Down syndrome is a genetic disorder arising out of abnormal cell division and results in additional genetic substance from chromosome 21. This genetic disorder results in permanent cerebral disability and growth delays, and in some it causes physical illness. It is the most common genetic problem in children; but with a clear understanding of the condition and early diagnosis, quality of living of kids and adults can be improved to a greater extent.

Symptoms

Each person with down syndrome is distinct with respect to the degree of development issues ranging from mild to severe health problems. Children with the condition have a distinctive appearance and some of the most common features are

  • Compressed facial appearance
  • Undersized head
  • Dwarfed neck
  • Obtruding tongue
  • Unusually formed ears
  • Low muscle tone (Hypotonia)
  • Overall stunted growth
  • Excessive flexibility
  • Tiny white spots on the colored part (iris) of the eye

Risk Factors

Parents who have a greater risk of having children with Down Syndrome include

  • Increasing Maternal Age: The chances of a mother birthing a child with Down Syndrome increases with age as the older the eggs, the greater risk of improper chromosome division
  • Birthing One Child with Down Syndrome: A woman who has one child with the condition has 1 in 100 chances of having another baby with the same condition
  • Carriers of Genetic Translocation: Both men and women can pass the chances of Down Syndrome to their children

Diagnosis

Tests During Pregnancy: Screening and Diagnostic

  • Screening Tests: Screening tests are done during pregnancy which indicates the likelihood of carrying a baby with down syndrome
  • Diagnostic Tests: These tests identify if the baby has a down syndrome condition

The decision to have the test is a personal choice keeping your age, family history and the consequences.

Diagnosis After Birth

Early identification of the condition is based on the facial appearance of the baby. The medical practitioner will also order a blood test for chromosomal analysis called karyotype test. The presence of chromosome 21 confirms the diagnosis of Down syndrome.

Treatment

Early intervention and diagnosis of Down syndrome can make a huge change in the life of children and in realising their underlying potential. Early intervention programs are tailor made initiatives present in every state which offers stimulation at an early stage with age suitable sensory, motor and cognitive activities. Relying on a team of specialists who will identify, administer and monitor any health concerns will enable holistic development of the child at any given point of time. Remember that your constant support is greatly required to help the child develop and learn important skills.

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