Down’s syndrome

Defination:

Down’s syndrome is a chromosal disorder caused by an additional (third) chromosome 21 or “trisomy21” resulting in intellectual impairrement and physical abnormalities.

Cause:

  • trisomy 21(nondisjunction)
  • translocation
  • mosaicism

Risk factor:

  • Maternal age
  • Being carrier of the genetic translocation for down syndrome

Symptoms:

1)behavioural and congnitive symptoms

  • irritability
  • agitation
  • aggressive behaviour
  • slow learning
  • short attention span

2)delayed language

3)delayed speech development

Sign:

Decreased or poor muscle tone 

  • upward slanting eyes lids
  • whit spots on iris
  • flattened facial profile 
  • small head
  • unusally shaped or small ears
  • poor muscle tone
  • broad short hands with a single crease in the palms
  • short height

Management:

  • physical or occupational therapy
  • speech therapy 
  • symptomatic treatment as per the condition
  • participating in special education programmes in school
  • treating underlying medical conditions
  • surgical correction of congenital abnormalities
  • evalution of hearing and sight manage accordingly
  • regular monitoring of thyroid hormone ,growth pattern 

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