Chronic Paediatric Conditions — Flashcards

Flashcard 51: What is the pharmacotherapy management of cystic fibrosis? _____ for patients with the F508del mutation

Answer: Lumacaftor/Ivacaftor (Orkambi)

Flashcard 52: Does duchenne muscular dystrophy cause intellectual impairment? _____

Answer: In ~40% of patients

Flashcard 53: What is the mainstay of pharmacological management for Duchenne muscular dystrophy (DMD)?\n_____

Answer: Glucocorticoids (Prednisolone/Deflazacort)

Extra: DMD is an X-linked recessive disorder caused by a mutation in the dystrophin gene. Genetic counseling and multidisciplinary care (physiotherapy, cardiac monitoring, and respiratory support) are essential.

Flashcard 54: Cystic fibrosis commonly presents with _____ in adults

Answer: recurrent pulmonary infections

Flashcard 55: Key risk factors for cerebral palsy include _____, low birth weight, & TORCH infections

Answer: prematurity

Flashcard 56: Cystic fibrosis patients should eat a diet with _____ calorie & ↑ fat intake

Answer: ↑

Flashcard 57: What is the cause of death in duchenne muscular dystrophy? (2) _____

Answer: Cardiac (dilated cardiomyopathy) & respiratory failure

Flashcard 58: Cystic fibrosis is typically diagnosed at birth or in early childhood, but _____% of patients are diagnosed > 16 years

Answer: 8.5

Flashcard 59: What pharmacological treatments can be used for ASD symptoms for aggression? _____

Answer: Antipsychotic drugs → decrease irritability, aggression, & self-injurious behaviours

Flashcard 60: What is the first-line pharmacological treatment for ASD social communication?\n_____

Answer: There are none for social communication! Medications for comorbidities can be considered