Neuromuscular respiratory failure and airway clearance — formative SAQs

Two formative SAQs on neuromuscular respiratory failure: a boy with Duchenne muscular dystrophy with morning headaches, daytime sleepiness and recurrent chest infections, testing the recognition of nocturnal hypoventilation and cough failure and their separate treatments; and an infant with spinal muscular atrophy in a chest infection, testing the rule to clear secretions and ventilate rather than merely oxygenate and the anticipatory plan.

Prompt

Neuromuscular respiratory failure and airway clearance

SAQ 1 — The boy with Duchenne muscular dystrophy who sleeps badly (10 marks, 15 minutes)

A 13-year-old boy with Duchenne muscular dystrophy, now using a wheelchair full time, is brought to clinic with morning headaches that ease through the day, daytime sleepiness and falling school performance. He has had three chest infections this winter and his parents say his cough sounds weak. His chest is clear today. [1]

a) Explain the two separate ways neuromuscular weakness causes respiratory failure, and match each of this boy's problems to one of them. (4 marks) [1] [6]

b) What bedside and sleep investigations would you use to confirm each problem, and what is the key measurement for detecting nocturnal hypoventilation? (3 marks) [1] [7]

c) Outline the two parallel treatments this boy needs and why oxygen alone is not the answer. (3 marks) [2] [6]

Paediatrics Fellowship Pro

You have read the opening of this SAQ. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.

References6Show ledger

[1]Hull J; Aniapravan R; Chan E; et al British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax, 2012.PMID 22730428
[2]Birnkrant DJ; Bushby K; Bann CM; et al Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol, 2018.PMID 29395990
[3]Finder JD; Birnkrant D; Carl J; et al Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med, 2004.PMID 15302625
[4]Finkel RS; Mercuri E; Meyer OH; et al Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord, 2018.PMID 29305137
[6]Chatwin M; Toussaint M; Gonçalves MR; et al Airway clearance techniques in neuromuscular disorders: A state of the art review. Respir Med, 2018.PMID 29501255
[7]Fauroux B; Khirani S; Griffon L; et al Non-invasive Ventilation in Children With Neuromuscular Disease. Front Pediatr, 2020.PMID 33330262