Flashcards
Paediatrics: Neurology and Development (Down Syndrome)
Flashcards do conjunto (6)
- 1How does the risk of delivering a Down syndrome (DS) child vary with age?
- 2What causes DS?* Majority (˜95%) 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
OHOP - 3Clinical features of DS.* Usually presents at birth
* Generalized hypotonia & marked head lag
* Facial features - small low-set ears, up-slanting eyes, prominent epicanthic folds, a flat facial profile, protruding tongue. Later Brushfield’s spots apparent in the iris (whitish spots).
* Flat occiput (brachycephaly) & short neck
* Typical limb features - short broad hands (brachydactyly), short incurved little fingers (clinodactyly), single transverse palmar crease, & wide ‘sandal’ gap between the first & second toes
* Mildly short stature
* Intellectual impairment becomes apparent. IQ scores range from 25-70.
* Social skills often exceed other intellectual skills
OHOP - 4What associated conditions are seen in DS?* ˜40–50% have congenital HT DS, most commonly AVSD, ASD, VSD, Fallot tetralogy
* GI problems - duodenal atresia, anal atresia, HSD
* ^Risk of infxn
* Developmental hip dysplasia
* Eczema
* Deafness both sensorineural & conductive
* Cataracts
* Leukaemia (1%)
* Acquired hypothyroidism
OHOP - 5Dx of DS.If clinical suspicion of DS, a senior paediatrician should discuss with the parents. Dx is confirmed by chromosome analysis showing an additional chromosome 21. Most cytogenetics laboratories are able to offer a rapid analysis eg FISH, in order to establish the Dx quickly.
OHOP - 6Mx of DS.* Refer for detailed cardiac assessment, hip US, & audiology
* Genetic counselling by a clinical geneticist should be offered
* Put parents in contact with a support organization
* Long-term follow-up by an MDT team led by a paediatrician with special expertise
* Physiotherapy to improve tone & posture
* Routinely test TFT annually
* Refer for audiology & ophthalmic assessment 1–2-yearly
* Almost all children with DS are now educated in mainstream schools with appropriate educational support
OHOP
Informações
- Descrição
- Paediatrics: Neurology and Development (Down Syndrome).
- Criado por
- Andrew Street
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- Avaliação