Chapter 20 · Airway Endoscopy, Sleep Disordered Breathing & Long-term Ventilation

Clinical indications for airway endoscopy (stridor, wheezing, cough, hemoptysis, atelectasis, infiltrates, foreign body) · ICU bronchoscopy · Congenital central hypoventilation syndrome · Obstructive sleep apnea · Neuromuscular disease & sleep · SDB investigation (polysomnography) · Long-term ventilation (invasive/noninvasive)
📌 Core principles: Airway endoscopy (flexible/rigid) essential for stridor (laryngomalacia, vocal cord palsy, subglottic stenosis), persistent wheeze, recurrent pneumonia, foreign body. Sleep disordered breathing: OSA (tonsillar hypertrophy, obesity) → polysomnography; CPAP. CCHS (PHOX2B mutation) → hypoventilation, requires diaphragm pacing or ventilation. Long-term ventilation (home NIV) for neuromuscular disease (SMA, DMD), restrictive chest wall, central hypoventilation.

📖 Airway Endoscopy, SDB & Long-term Ventilation – Key Concepts

🔍 Airway endoscopy – indications
Stridor (laryngomalacia, vocal cord palsy, subglottic stenosis). Persistent/unilateral wheezing (foreign body, bronchomalacia, vascular ring). Persistent cough (tracheomalacia, recurrent aspiration). Hemoptysis (localize bleeding, biopsy). Atelectasis (BAL, remove mucus plug). Recurrent infiltrates (infection, aspiration, interstitial disease). Foreign body removal (rigid bronchoscopy). ICU: airway assessment, difficult intubation, BAL in VAP.
😴 Sleep disordered breathing (SDB)
Obstructive sleep apnea (OSA): tonsillar hypertrophy, obesity, craniofacial syndromes. Symptoms: snoring, apnoeas, restless sleep, daytime sleepiness, enuresis, learning issues. Diagnosis: polysomnography (PSG) – AHI >5. Congenital central hypoventilation syndrome (CCHS): PHOX2B mutation, hypoventilation during sleep, absent respiratory drive. Treatment: NIV/CPAP, tracheostomy + ventilation, diaphragm pacing.
🫁 Neuromuscular & restrictive diseases during sleep
Duchenne MD, SMA, myotonic dystrophy → hypoventilation during REM sleep first (nocturnal desaturation). Restrictive chest wall (kyphoscoliosis, osteogenesis imperfecta) → reduced lung volumes, nocturnal hypoventilation. Monitoring: overnight oximetry, transcutaneous CO2. Treatment: noninvasive ventilation (NIV, BiPAP).
🏠 Long-term ventilation (LTV) of children
Indications: chronic respiratory failure (CCHS, neuromuscular, bronchopulmonary dysplasia, spinal cord injury). Modes: invasive (tracheostomy ventilation) or noninvasive (NIV via mask). Home ventilator settings, multidisciplinary team, caregiver training. Complications: tracheostomy tube blockage, infection, ventilator dependence, need for suctioning. Outcome: improved quality of life, reduced hospitalisations.

🔎 Symptom-based approach: stridor, apnea, sleep problems

1️⃣
Infant with inspiratory stridor worse when supine/feeding, normal cry, no cyanosis – Laryngomalacia. Flexible bronchoscopy confirms. Most resolve by 12-18 months; surgery (supraglottoplasty) for severe cases.
2️⃣
Child with loud snoring, witnessed apnoeas, restless sleep, enuresis, daytime inattention – OSA due to adenotonsillar hypertrophy. Polysomnography (PSG) if available, otherwise refer for adenotonsillectomy if typical.
3️⃣
Neonate with persistent hypoventilation during sleep (normal awake breathing), requiring intubation – Congenital central hypoventilation syndrome (CCHS). PHOX2B genetic testing. Treatment: diaphragm pacing, home mechanical ventilation (NIV or tracheostomy).
4️⃣
Child with neuromuscular disease (DMD) and morning headache, poor sleep, daytime fatigue – Nocturnal hypoventilation. Overnight oximetry + transcutaneous CO2. Start noninvasive ventilation (BiPAP).
5️⃣
Sudden onset of choking, coughing, unilateral wheeze in toddler – Foreign body aspiration. Rigid bronchoscopy for removal.
⚠️ Red flags for urgent airway endoscopy: Acute stridor with drooling (epiglottitis), suspected foreign body, massive hemoptysis, post-extubation stridor (subglottic stenosis).

📋 Management algorithms: OSA, CCHS, Laryngomalacia, LTV

😴
Obstructive sleep apnea – pediatric management
▪️ Mild-moderate OSA with adenotonsillar hypertrophy: adenotonsillectomy (first-line).
▪️ Persistent/residual OSA or contraindication to surgery: CPAP (positive airway pressure).
▪️ Obesity-related OSA: weight management, CPAP, consider hypoglossal nerve stimulator in older adolescents.
▪️ Monitor: repeat PSG 6-8 weeks post-op if symptoms persist.
🧬
Congenital central hypoventilation syndrome (CCHS) – management
▪️ Confirm PHOX2B mutation (polyalanine repeat expansion or missense).
▪️ Sleep: noninvasive ventilation (BiPAP via mask) or tracheostomy with positive pressure ventilation.
▪️ Diaphragm pacing for awake ventilation (implanted phrenic nerve stimulator) – allows weaning from ventilator during wakefulness.
▪️ Monitor for associated neurocristopathy (Hirschsprung, neural crest tumours).
🏠
Long-term ventilation (LTV) at home – indications and setup
▪️ Indications: chronic respiratory failure (CCHS, SMA type 1, DMD, spinal cord injury, BPD, tracheomalacia).
▪️ Mode: invasive (tracheostomy) or noninvasive (NIV via mask).
▪️ Requirements: home ventilator (volume-cycled or pressure-controlled), back-up power, trained caregivers, respiratory therapist.
▪️ Monitor: oximetry, capnography, ventilator alarms, prevent tracheostomy complications.
🩺
Neuromuscular disease – sleep hypoventilation monitoring
▪️ Annual or twice-yearly overnight oximetry + transcutaneous CO2 when FVC <50% predicted or symptoms.
▪️ Start NIV (BiPAP) if CO2 >50 mmHg during sleep or desaturation <88% for >5 minutes.
▪️ Titrate settings to normalize CO2, improve sleep quality.

💡 Reflex prompts – Endoscopy, SDB, Long-term ventilation

🔍 A 6-week-old with inspiratory stridor, worse when supine, normal cry. Most likely diagnosis?
Laryngomalacia. Flexible bronchoscopy is diagnostic.
🩺 A child with loud snoring, witnessed apnoeas, and restless sleep. First-line treatment?
Adenotonsillectomy (if tonsillar hypertrophy). Polysomnography if diagnosis uncertain.
🧬 Gene associated with congenital central hypoventilation syndrome (CCHS).
PHOX2B (paired-like homeobox 2B) – autosomal dominant, polyalanine repeat expansion.
📉 A child with Duchenne MD, morning headache, and daytime sleepiness. Most likely cause?
Nocturnal hypoventilation. Overnight oximetry + TcCO2, start NIV.
⚠️ A toddler with sudden choking, unilateral wheeze, and normal CXR. Next step?
Rigid bronchoscopy – rule out radiolucent foreign body (e.g., peanut, popcorn).
🩸 A child with massive hemoptysis and known cystic fibrosis. Immediate management?
Airway protection, bronchial artery embolisation.
🏠 Indication for long-term noninvasive ventilation (NIV) in a child with SMA type 1.
Chronic hypoventilation (CO2 >50 mmHg during sleep, oxygen desaturation). Improves survival and quality of life.
📊 PSG finding that defines pediatric OSA (mild).
Apnoea-hypopnoea index (AHI) 1-5 events/hour; moderate 5-10; severe >10.
🔬 What is the role of flexible bronchoscopy in recurrent atelectasis?
BAL for infection, removal of mucus plug, assess airway malacia.
🩺 Most common cause of stridor in an intubated child post-extubation.
Subglottic stenosis (acquired). Microlaryngoscopy and bronchoscopy.