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Down's Syndrome

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Down's Syndrome Dr Katie Benner VTS 1 in paediatrics Definition In 1887 Landon-Down described a syndrome of physical anomalies and mental handicap Was previously ... – PowerPoint PPT presentation

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Title: Down's Syndrome


1
Down's Syndrome
  • Dr Katie Benner
  • VTS 1 in paediatrics

2
Definition
  • In 1887 Landon-Down described a syndrome of
    physical anomalies and mental handicap
  • Was previously known as Mongolism, now known as
    Down's syndrome or trisomy 21
  • Commonest of the chromosomal disorders and major
    cause of mental retardation
  • Incidence increases with maternal age

3
Clinical Features
  • Brachcephaly

maximal breadth of the skull in the coronal
plain is more than 80 of the length in the
sagittal plain
4
  • Short neck
  • Epicanthic folds

5
  • Inward down - mongoloid - slant to the eyes
  • Brushfield spots on the iris

6
  • almond shaped eyes
  • small simple ears, which may be low set
  • flat nasal bridge

7
  • protruding tongue, mouth hanging open
  • narrow high arched palate

8
Associations
  • duodenal atresia (10)
  • Hirschsprung's disease (3)
  • other intestinal atresias
  • Up to 40 have congenital heart disease
  • atrioventricular canal - the most common
  • ventricular septal defect
  • patent ductus arteriosus
  • atrial septal defect - ostium primum (40)
  • tetralogy of Fallot

9
Management
  • Support for family
  • Referral to MDT
  • Referral to relevant specialists if complications
    arise

10
Prognosis
  • 90 live to 5 years
  • Remainder die of congenital heart disease,
    Hirschprung's and infection

11
Antenatal issues
  • All pregnant women should be offered screening
    (but it is their choice to decline)
  • From 100 to 200 weeks
  • 2 different tests depending on when woman
    presents
  • If up to 141 gets triple test hCG, PAPP-A and
    nuchal translucency
  • If 142 to 200 gets hCG, AFP, uE3, inhibin A

12
Maternal risk
Woman's age (years) Risk as a ratio Risk Below
20 11600 0.067 20 11500 0.066 30 1800 0.125
35 1270 0.37 40 1100 1.0 45 and over 1.50
and greater 2.0
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