DOWN’S SYNDROME

Disease

DOWN’S SYNDROME

Description

  • Individual has a full or partial extra copy of chromosome 21
  • This genetic disorder alters the course of development in children

Symptoms

  • Small head
  • Upward slanting eyes
  • Unusually shaped or small ears
  • Poor muscle tone
  • Short fingers
  • Excessive flexibility
  • Brush field spots on the eye
  • Poor muscle tone

Causes

  • Trisomy 21
  • Mosaic Down syndrome
  • Translocation Down syndrome

Risk factors

  • People with a family history of Down syndrome
  • Advancing maternal age
  • Being carriers of the genetic translocation

Diagnostic Tests

  • Screening and prenatal test during pregnancy includes:
  • Blood test
  • Ultrasound
  • Amniocentesis
  • Chorionic villus sampling (CVS)
  • Cordocentesis
  • Test for new born include chromosomal karyotype

Treatment

  • Early intervention programs like language, social and self-help skills
  • Team care
  • Primary care pediatrician
  • Pediatric cardiologist
  • Pediatric gastroenterologist
  • Pediatric endocrinologist
  • Developmental pediatrician
  • Pediatric neurologist
  • Pediatric ear, nose and throat (ENT) specialist
  • Pediatric eye doctor (ophthalmologist)

Lifestyle management

  • Find a team of trusted professionals
  • Seek out other families who are dealing with the same issues
  • Expect a bright future