Breath-Holding Spells: Clinical Presentation
Overview
Breath-holding spells are brief, involuntary episodes of apnea at end-expiration triggered by emotional or painful stimuli, affecting 0.1-4.6% of healthy children with peak onset between 6-18 months of age, presenting in three distinct clinical patterns: cyanotic, pallid, and mixed types. 1, 2
Cyanotic Type (Most Common)
Triggering Events
- Anger, frustration, or emotional upset are the primary precipitants 2, 3
- The child is typically upset or denied something they want 4
Clinical Sequence
- Short, loud cry → forced expiratory breath-holding → cyanosis → rigidity or limpness → brief loss of consciousness (10-60 seconds) → spontaneous resolution 5, 2
- The apneic period is longer than in pallid spells before loss of consciousness occurs 2
- Cyanosis develops as the defining color change, distinguishing it from the pallid type 3
Associated Features
- Hypoxic (anoxic) convulsions occur in ≤15% of cases—these are brief tonic-clonic movements representing anoxic seizures, not true epilepsy 6, 4
- The child becomes rigid or limp during the spell 2
- Complete spontaneous recovery occurs within 10-60 seconds 2, 4
Pallid Type (Cardioinhibitory)
Triggering Events
- Pain or fear are the primary triggers, not anger 1, 6
- Minor trauma (e.g., bumping head, falling) commonly precipitates episodes 3
Clinical Sequence
- Minimal or "silent" crying → brief apnea → pallor (not cyanosis) → loss of consciousness due to vagally-mediated cardiac inhibition 1, 6
- The apneic period is briefer than in cyanotic spells prior to loss of consciousness 2
- Pallor develops rather than cyanosis, representing cardioinhibitory vasovagal syncope 1, 3
Pathophysiology
- Represents vagally-mediated cardiac inhibition with bradycardia or brief asystole 1, 3
- This is a reflex cardioinhibitory response, not a voluntary breath-holding 3
Mixed Type
- Features of both cyanotic and pallid spells occur in the same child 7
- The child may exhibit cyanotic episodes on some occasions and pallid episodes on others 7
Universal Clinical Features (All Types)
Age and Epidemiology
- Peak onset: 6-18 months of age, with 15% presenting before 6 months 2, 4
- Peak frequency: 12-18 months of age, ranging from 6 months to 4 years 4
- Median frequency is weekly, with 30% experiencing ≥1 spell per day 4
Duration and Resolution
- Episodes last 10-60 seconds in both cyanotic and pallid types 6, 2
- Spontaneous resolution by age 5 years in the vast majority of cases, though spells may persist until age 7 years in rare cases 2, 4
- Median age at last spell is 37-42 months 4
Family History
- Positive family history in 34% of cases, equally distributed between maternal and paternal sides 4
Key Distinguishing Features Between Types
| Feature | Cyanotic Type | Pallid Type |
|---|---|---|
| Trigger | Anger, frustration [2] | Pain, fear [1] |
| Crying | Short, loud cry [2] | Minimal or silent [6] |
| Apnea Duration | Longer before LOC [2] | Briefer before LOC [2] |
| Color Change | Cyanosis [3] | Pallor [1] |
| Mechanism | Complex, not fully understood [3] | Vagally-mediated cardiac inhibition [1] |
Critical Diagnostic Pitfalls
Differentiating from Cardiac Syncope
- Red flags for cardiac syncope include: family history of sudden death <30 years, spells triggered by loud noise/fright/exercise, syncope without prodrome or while supine, episodes preceded by chest pain 6
- Obtain 12-lead ECG in all cases to exclude long QT syndrome, Brugada syndrome, and other channelopathies 1, 3
Differentiating from Other Conditions
- Distinguish from periodic breathing, dysphagia, or gastroesophageal reflux, which are more common and less concerning 7
- Rule out foreign body aspiration if persistent respiratory symptoms (stridor, persistent cough) are present rather than self-limited episodes 5
- The involuntary nature and stereotyped sequence distinguish breath-holding spells from voluntary breath-holding 5
Atypical Presentations
Neonatal Onset
- Rare before 6 months, but cases as early as 3 days of age have been reported, particularly with strong family history 8
- Neonatal breath-holding spells should be included in the differential diagnosis of neonatal cyanotic spells 8
Severe Complications (Rare)
- Status epilepticus, prolonged asystole, and sudden death have been reported in rare cases, though the overall prognosis remains excellent 3