Description

• Breath-holding spells are the general term for emotionally provoked attacks that occur in young children. These attacks can progress from a strong emotion to “breath holding” to decreased sensorium and either limpness or stiffness, which can appear as seizure-like activity.
• Disease essentials
  • Provoked by anger, pain, or frustration
  • Association with altered respiratory effort
  • Results in decreased muscle tone
  • Can be classified as simple (brief, no loss of consciousness) or severe (prolonged, associated loss of consciousness)
• Subtypes
  • Cyanotic (80%)
    • Classic breath-holding spells
    • Typically associated with anger
    • Progress from crying to exhalation to apnea and syncope to decreased muscle tone and falling
    • May also note generalized clonic jerks, opisthotonos, and bradycardia
    • Ages: 6 months to a peak at 2 years, with resolution by 5 years
  • Pallid (20%)
    • Typically associated with pain, frustration, or surprise
    • Progress from quieting to apnea (at the end of expiration) to syncope to decreased muscle tone and falling
    • May also note clenched hands and clonic jerks and bradycardia

Epidemiology

• Incidence: not reported
• Prevalence: 4.6% (severe), up to 27% (simple)
• No gender difference
• 20–35% have a positive family history
• Age/frequency
  • Median age of onset 6–12 months of age
  • Typically ages 1–5 years but can occur up to 7 years of age
  • Usually resolve by school age
  • Frequency
    • Can occur several times per day to only once a year
    • Age of peak frequency of spells is from 1–2 years of age.

Risk Factors

• Underlying autonomic regulatory dysfunction
• Inheritance
  • 20–35% of patients with breath-holding spells have a positive family history.
  • 11% of patients with epilepsy or other chronic but nonneurologic disorder have a positive family history of breath-holding spells.
  • For 80% of patients with severe spells and a positive family history, the affected family members are mainly on the maternal side.
  • An autosomal dominant trait with reduced penetrance has been noted in some.

General Prevention

• There are no known methods, medications, or treatments for preventing breath-holding spells.
• Although the term breath-holding spells implies volition, these attacks are involuntary and reflexive.
• For a variety of reasons, emotional outbursts are common in this age group; however, appeasing a child to prevent a spell is not recommended as it may lead the child to develop other, similar-appearing behaviors encouraging parental concession.

Pathophysiology

• Cyanotic breath-holding spells
  • Syncope due to a Valsalva maneuver increasing the intrathoracic pressure, decreasing cardiac blood return and eventually cardiac output, which causes cerebral hypoperfusion and unconsciousness
• Pallid breath-holding spells
  • Abnormal vagal response to emotional stimulation causing bradycardia and/or asystole, leading to decreased cardiac output and cerebral ischemia and unconsciousness

Etiology

Always provoked by anger, pain, or frustration

Commonly Associated Conditions

• No definitive associated conditions
• There have been reports of some children with breath-holding spells going on to have syncope and/or seizures.
• Some studies have noted an increased prevalence of anemia in children with breath-holding spells; the anemia and spells improved over time with iron treatment. Although these findings also coincide with the expected timing for resolution of breath-holding spells, anemia might complicate an individual child’s picture.