7561583
Description
Flashcards by Andrew Street, updated more than 1 year ago
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Created by Andrew Street
almost 8 years ago
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| Question | Answer |
| How does the risk of delivering a Down syndrome (DS) child vary with age? | |
| What 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 |
| Clinical 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 |
| What 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 |
| Dx 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 |
| Mx 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 |
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