Chronic Paediatric Conditions — Flashcards

What would you suspect in a patient with upslanting palpebral fissures, epicanthic folds, Brushfield spots in iris, small low-set ears, flat occiput, single palmar crease? _____

Cerebral palsy is managed with an extensive _____

_____ refers to a group of non-progressive neurological disorders affecting movement & posture, resulting from brain injury

Duchenne muscular dystrophy may use their arms to stand up from squatted position, known as _____

What is the pharmacotherapy management of cystic fibrosis? _____ for patients with the F508del mutation

Hint: pharmacology

What is the initial investigation for Duchenne muscular dystrophy? _____

Hand preference before _____ is abnormal and may indicate cerebral palsy

Cerebral palsy spasticity can be treated with oral _____

What is the best intial test for cystic fibrosis in children & young people? _____

The most common cause of cystic fibrosis is a _____ mutation