Paeds SAQs · respiratory-sleep-and-airway
Narcolepsy and hypersomnolence — formative SAQs
Two formative SAQs on narcolepsy and the central disorders of hypersomnolence: a school-aged child with new irresistible daytime sleepiness and emotion-triggered loss of muscle tone, testing the recognition of cataplexy and narcolepsy type 1, the confirmatory sleep studies and orexin measurement, and the layered management; and an adolescent with excessive daytime sleepiness but no cataplexy, testing the differential between narcolepsy type 2, idiopathic hypersomnia and secondary sleepiness and the correct use of the multiple sleep latency test.
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Target exams
SAQ 1 — The child who collapses when he laughs (10 marks, 15 minutes)
A ten-year-old boy has developed irresistible daytime sleepiness over three months, falling asleep in class and at meals despite a normal night-time sleep schedule. His parents report that when he laughs hard his knees buckle and his head drops for a second or two, and he stays fully aware. He has also gained weight rapidly over the same period. [1]
a) What is the most likely diagnosis, and which single feature of the history is nearly specific for it? (3 marks) [2] [9]
b) What investigations would confirm the diagnosis, and what findings would you expect? (4 marks) [3] [10]
c) Outline your management, including the non-drug foundation and the drugs you would use for sleepiness and for the emotion-triggered symptom. (3 marks) [12] [13]
SAQ 2 — The sleepy adolescent without cataplexy (10 marks, 15 minutes)
A fifteen-year-old girl is referred with excessive daytime sleepiness affecting her schoolwork. She has no episodes of emotion-triggered loss of muscle tone. Her naps are long and leave her groggy. A sleep diary shows an adequate sleep schedule, and there is no snoring. [1]
a) List the central disorders of hypersomnolence you must distinguish here, and the single feature that separates each from narcolepsy type 1. (4 marks) [3] [1]
b) Before you diagnose a primary sleep disorder, what secondary causes of sleepiness must you actively exclude? (3 marks) [1] [3]
c) She proceeds to sleep studies. What must be true for a multiple sleep latency test to be valid and interpretable in this adolescent? (3 marks) [3] [10]
References
- [1]Morse AM; Kim SY; Harris S; et al Narcolepsy: Beyond the Classic Pentad. CNS Drugs, 2025.PMID 40111737
- [2]Rocca FL; Pizza F; Ricci E; et al Narcolepsy during Childhood: An Update. Neuropediatrics, 2015.PMID 25961600
- [3]Barateau L; Pizza F; Chenini S; et al Narcolepsies, update in 2023. Rev Neurol (Paris), 2023.PMID 37634997
- [4]Rauf R; Asif S; AlSaafeen A; et al Orexin Deficiency in Narcolepsy: Molecular Mechanisms, Clinical Phenotypes, and Emerging Therapeutic Frontiers. Brain Behav, 2025.PMID 41076550
- [5]Vassalli A; Tafti M; Liblau RS Narcolepsy is (not) an autoimmune disease. Nat Rev Neurol, 2026.PMID 42321519
- [6]Ding WT; Gao JY; Guo ZL; et al Research Progress in the Roles of Influenza A H1N1 Virus and Its Vaccine in the Pathogenesis of Narcolepsy Type 1. Zhongguo Yi Xue Ke Xue Yuan Xue Bao, 2025.PMID 41503654
- [7]Poli F; Pizza F; Mignot E; et al High prevalence of precocious puberty and obesity in childhood narcolepsy with cataplexy. Sleep, 2013.PMID 23372264
- [8]Dhanju S; Al-Saleh S; Amin R; et al A retrospective analysis of clinical characteristics of childhood narcolepsy. Paediatr Child Health, 2018.PMID 30455579
- [9]Pillen S; Pizza F; Dhondt K; et al Cataplexy and Its Mimics: Clinical Recognition and Management. Curr Treat Options Neurol, 2017.PMID 28478511
- [10]Biscarini F; Vandi S; Zenesini C; et al Use of Portable 24-Hour Polysomnography as Alternative Diagnostic Tool for Narcolepsy Type 1 in Adults and Children. Neurology, 2025.PMID 40080737
- [11]Tang SH; Min J; Zhang X; et al Incidence of pediatric narcolepsy diagnosis and management: evidence from claims data. J Clin Sleep Med, 2024.PMID 38450539
- [12]Keam SJ Pitolisant: Pediatric First Approval. Paediatr Drugs, 2023.PMID 37233887
- [13]Moresco M; Pizza F; Antelmi E; et al Sodium Oxybate Treatment in Pediatric Type 1 Narcolepsy. Curr Drug Metab, 2018.PMID 29512449
- [14]Dauvilliers Y; Lammers GJ; Lecendreux M; et al Effect of sodium oxybate on body mass index in pediatric patients with narcolepsy. J Clin Sleep Med, 2024.PMID 37942930