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Sleep and Ventilation Disorders - Overview

Disorders that disturb sleep and ventilation span a heterogeneous spectrum, yet they can be organised coherently once you anchor them to the International Classification of Sleep Disorders, 3rd edition, Text Revision (ICSD‑3‑TR; AASM, 2023). The ICSD provides a consensus framework that underpins:

  • Standardised diagnostic criteria – ensuring research studies and clinical services speak the same language.

  • Pathophysiological insight – grouping conditions first by the dominant mechanism (e.g., upper‑airway obstruction, circadian misalignment, motor dysregulation) rather than by a single symptom.

  • Risk‑stratified management pathways – because predisposing factors such as obesity, cardiopulmonary disease or neuro‑degeneration map neatly onto the six major ICSD families and guide targeted investigations (polysomnography, actigraphy, iron studies, etc.). 


Under the ICSD‑3‐TR, sleep disorders are divided into Insomnia Disorders, Sleep‑Related Breathing Disorders, Central Disorders of Hypersomnolence, Circadian Rhythm Sleep‑Wake Disorders, Parasomnias, and Sleep‑Related Movement Disorders. Each family aggregates conditions that share clinical phenotypes and biological drivers, streamlining differential diagnosis and clarifying natural history. For instance, Sleep‑Related Breathing Disorders range from obstructive sleep‑apnoea—where repetitive upper‑airway collapse produces cyclical hypoxaemia—to congenital central hypoventilation, marked by blunted ventilatory drive. In contrast, Circadian Rhythm Sleep‑Wake Disorders feature intact ventilation but a mis‑timed suprachiasmatic pacemaker, so therapy pivots to light or melatonin rather than positive‑airway pressure. 



ICSD‑3 Major Category Core clinical features Typical pathophysiology Common associated / predisposing factors Representative disorders / examples
Sleep‑Related Breathing Disorders Fragmented sleep, witnessed apnoeas, snoring, gasping, excessive daytime sleepiness, morning headaches Periodic upper‑airway collapse (↓ airflow ↑ resistance), unstable central ventilatory drive, sustained hypoventilation (↑ PaCO₂) or isolated nocturnal hypoxaemia (↓ SpO₂) Obesity, craniofacial anatomy, neuromuscular or pulmonary disease, heart failure, opioid use, high altitude Obstructive sleep‑apnoea (adult / paediatric); Central sleep‑apnoea syndromes (idiopathic, Cheyne–Stokes, high‑altitude, drug‑induced, CompSA); Sleep‑related hypoventilation (obesity, congenital, neuromuscular, chest‑wall, COPD); Sleep‑related hypoxaemia disorder
Insomnia Disorders Difficulty initiating/maintaining sleep or early awakening with daytime impairment ↑ Cortical & autonomic arousal; maladaptive conditioning perpetuates insomnia Stress, anxiety/depression, chronic pain, stimulants, irregular schedules Chronic insomnia disorder (psychophysiological, paradoxical); Short‑term (acute) insomnia
Central Disorders of Hypersomnolence Excessive daytime sleepiness unrelieved by adequate sleep, sleep attacks, cataplexy, hallucinations ↓ Orexin (hypocretin) neurons or dysregulated sleep‑wake “flip‑flop” switch Auto‑immune orexin loss, brain injury, genetic predisposition Narcolepsy type 1 & 2; Idiopathic hypersomnia; Kleine–Levin syndrome
Circadian Rhythm Sleep‑Wake Disorders Insomnia or hypersomnolence due to sleep‑time misalignment Phase shift or failed entrainment of the suprachiasmatic pacemaker (↑ delay or ↑ advance) Shift work, trans‑meridian travel, visual impairment, irregular social schedule Delayed or advanced sleep‑wake phase disorder; Non‑24‑hour rhythm; Shift‑work disorder; Irregular sleep‑wake rhythm
Parasomnias Undesired movements, behaviours, experiences during sleep or transitions Dissociation of sleep stages (↓ boundary stability between NREM/REM and wakefulness) Sleep deprivation, medications, fever, stress, family history NREM: confusional arousals, sleep‑walking, sleep terrors • REM: REM sleep behaviour disorder, recurrent isolated sleep paralysis, nightmare disorder
Sleep‑Related Movement Disorders Stereotyped movements that disturb sleep or delay onset (e.g., leg kicks, tooth grinding) Peripheral sensory discomfort (↑), spinal automatisms, ↓ dopaminergic tone Iron deficiency, uraemia, pregnancy, medications, neuro‑degeneration Restless legs syndrome; Periodic limb‑movement disorder; Bruxism; Rhythmic movement disorder
Other (Isolated symptoms / normal variants) Benign phenomena such as snoring, nocturnal groaning, hypnic jerks Variants of airway or arousal control (often ↑ sound generation but ↓ clinical impact) — Primary snoring; Catathrenia; Hypnagogic foot tremor


Snapshot of the epidemiology of sleep‑disordered breathing (SDB)


  • Common and rising: Obstructive‑sleep apnoea (OSA) and related hypoventilation syndromes affect roughly 10 â€“ 20 % of adults overall, with prevalence climbing to ≈ 50 % in middle‑aged men and 1 â€“ 6 % in children (some paediatric cohorts in Shanghai report 7 â€“ 27 %)


  • Key drivers:

    • Obesity is the dominant modifiable risk factor—about 30 % of obese patients admitted with acute respiratory failure have unrecognised sleep apnoea.

    • Male sex and advancing age independently raise risk.

  • Regional & demographic variability: Urban Asian data mirror Western figures but show wider paediatric ranges, underscoring the influence of ethnicity, craniofacial anatomy and environmental factors.

  • Systemic impact: SDB is tightly linked to hypertension, cardiovascular morbidity and metabolic disease, reinforcing its public‑health importance.


  • Special groups at highest risk:

    • Neuromuscular disorders (e.g., ALS, muscular dystrophies) and

    • Thoracic restrictive conditions (severe kyphoscoliosis, obesity‑hypoventilation)
      experience early nocturnal hypoventilation, often necessitating prompt non‑invasive ventilation.


Take‑home: SDB is common, obesity‑driven and clinically heterogenous; targeted screening in high‑risk groups and early ventilatory support in restrictive or neuromuscular disease are essential for mitigating downstream cardiorespiratory complications.



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