Paeds: Downs Syndrome Flashcards Preview

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Flashcards in Paeds: Downs Syndrome Deck (16):
1

Incidence

1 in 600,000 live births (incidence increases with advancing maternal age

2

Cause

The great majority (95%) of babies aith Down syndrome have trisomy 21, usually due to non-disjunction during maternal oogenesis.
~2% are the result of a robertsonian translocation
~2% are mosaic, with a normal cell line as well as the trisomy 21 cell line

3

Clinical features

• Usually presents at birth
• Generalized hypotonia and marked head lag
• Facial features
• Flat occiput and short neck
• Typical limb features
• Mildly short stature
• Intellectual impairments becomes apparent. IQ scores range from 25 to 70
Social skills often exceed other intellectual skills

4

Facial features

• Small low-set ears
• Up slanting eyes
• Prominet epicanthic folds
• A flat facial profile
• Protruding tongue
Later brushfields spots apparent in the iris (whitish spots)

5

Typical limb features

Short broad hands (brachydactyly), short incurved little fingers (clinodactyly), single transverse palmar crease, and a wide ‘sandal’ gap between the first and second toes.

6

Associated conditions

• -40-50% have congenital heart disease, most commonly atrioventricular spetal defect (AVSD), ASD, VSD, Fallot tetralogy
• GI problems: duodenal atresia, anal atresia, HSD
• Increased risk of infection
• Developmental hip dysplasia
• Eczema
• Deafness: both sensorineural and conductive
• Cataracts
• Leukaemia (1%)
Acquired hypothyroidism

7

Diagnosis

Chromosome analysis showing an additional chromosome 21 via interphase FISH

8

Management Cardiac

Assessment

9

Management
Orthopaedics

Hip US
Physiootherapy to improve tone and posture

10

Management Audiology and opthamology

Audiology and ophthalmic review 1-2 years

11

Management Genetic counselling

Not required if the cause is non-dysfunctional trisomy 21 or Mosaic trisomy 21
But this is very important if the karyotype shows a translocation

12

Management
Support organisation

Downs Association

13

Management Long term followup

Ideally by by a multidisciplinary team led by a paediatrician with special expertise, such as developmental paediatricin, working in a child developmental centre

14

Management Haematology

Routine TFT annually

15

Education

Almost all children with Down syndrome are now educated in a mainstream school with appropriate educational support

16

Prognosis

If deaths from congenital cardiac disease are excluded, life expectancy is well in to adult life, although somewhat shortened as almost all develop Alzheimers disease by age 40 yrs
Majority of adults can live semi-independently with supervision.

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