Chronic Paediatric Conditions — Flashcards

Flashcard 41: Cystic fibrosis is typically diagnosed at birth or in early childhood, but _____% of patients are diagnosed > 16 years

Answer: 8.5

Flashcard 42: What is the best intial test for cystic fibrosis in children & young people? _____

Answer: Sweat test

Flashcard 43: Hand preference before _____ is abnormal and may indicate cerebral palsy

Answer: 12 months

Flashcard 44: What is the pharmacotherapy management of cystic fibrosis? _____ for patients with the F508del mutation

Answer: Lumacaftor/Ivacaftor (Orkambi)

Flashcard 45: Duchenne muscular dystrophy may use their arms to stand up from squatted position, known as _____

Answer: Gower's sign

Flashcard 46: What is the best initial test for Cystic Fibrosis in adults? _____

Answer: Sweat chloride test

Extra: Sweat Chloride Test levels: - Normal: ≤ 29 mmol/L - Intermediate: 30-59 mmol/L - Diagnostic: ≥ 60 mmol/L (on two separate occasions)

Flashcard 47: Does duchenne muscular dystrophy cause intellectual impairment? _____

Answer: In ~40% of patients

Flashcard 48: Cystic fibrosis commonly presents with _____ in adults

Answer: recurrent pulmonary infections

Flashcard 49: Key risk factors for cerebral palsy include _____, low birth weight, & TORCH infections

Answer: prematurity

Flashcard 50: Cystic fibrosis is managed with _____ supplements taken with food

Answer: pancreatic enzyme