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Down's Syndrome
Dr Katie Benner
VTS 1 in paediatrics
Definition
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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
Clinical Features
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Brachcephaly
maximal breadth of the skull in the coronal plain is more than 80% of the length in the sagittal plain
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Short neck
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Epicanthic folds
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Inward down - mongoloid - slant to the eyes
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Brushfield spots on the iris
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almond shaped eyes
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small simple ears, which may be low set
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flat nasal bridge
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protruding tongue, mouth hanging open
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narrow high arched palate
Associations
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duodenal atresia (10%)
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Hirschsprung's disease (3%)
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other intestinal atresias
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Up to 40% have congenital heart disease:
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atrioventricular canal - the most common
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ventricular septal defect
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patent ductus arteriosus
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atrial septal defect - ostium primum (40%)
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tetralogy of Fallot
Management
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Support for family
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Referral to MDT
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Referral to relevant specialists if complications
arise
Prognosis
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90% live to 5 years
Remainder die of congenital heart disease,
Hirschprung's and infection
Antenatal issues
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All pregnant women should be offered
screening (but it is their choice to decline)
From 10+0 to 20+0 weeks
2 different tests depending on when woman
presents
If up to 14+1 gets triple test hCG, PAPP-A and
nuchal translucency
If 14+2 to 20+0 gets hCG, AFP, uE3, inhibin A
Maternal risk
Woman's age (years)
Risk as a ratio
%Risk
Below 20
1:1600 0.067
20
1:1500 0.066
30
1:800 0.125
35
1:270 0.37
40
1:100 1.0
45 and over 1.50 and greater
2.0