Basics
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.
Diagnosis
History
- Important to elicit history of
- Provocation by anger, pain, or frustration
- Altered respiratory effort, decreased responsiveness, and altered muscle tone (either limpness or stiffness)
- Lack of trauma
- Not volitional
Physical Exam
- Vital signs: normal on exam; perform orthostatic blood pressures
- Focal findings: none, normal cardiac, and neurologic exams
Differential Diagnosis
- Syncope: not usually preceded by crying; altered muscle tone typically accompanied by efforts to prevent falling
- Neurocardiogenic (vasovagal syncope, fainting)
- Associated with bradycardia, vasodepression, and/or hypotension leading to decreased cerebral perfusion
- More common in adolescents
- Cardiac
- Dysrhythmias
- Prolonged QT syndrome
- Wolff-Parkinson-White syndrome
- Complete heart block
- Structural
- Hypertrophic cardiomyopathy
- Severe pulmonary or aortic stenosis
- Coronary artery aneurysm
- Anomalous origin of the left coronary artery
- Pulmonary hypertension
- Myxoma
- Orthostatic
- Neuropsychiatric
- Panic attacks or hyperventilation syndrome
- Benign paroxysmal vertigo
- Cataplexy
- Hysterical syncope
- Cough
- Most common in asthmatics
- Increased intrapleural pressure from coughing leads to decreased venous return and eventually decreased cardiac output and cerebral perfusion
- Metabolic: hypoglycemia
- Epilepsy or epilepsy equivalent: altered muscle tone precedes color change; abnormal EEG
- Central or obstructive apnea: not typically associated with crying; abnormal sleep study
- Brainstem pathology such as tumor or malformation: other abnormal findings on history and exam
- Familial dysautonomia: other abnormal findings on history and exam
- Rett syndrome: other abnormal findings on history and exam
Diagnostic Tests & Interpretation
Lab
- If anemia is of concern, CBC should be obtained.
- If hypoglycemia is high on differential acutely, plasma glucose should be obtained.
Imaging
- No specific imaging is necessary to diagnosis breath-holding spells. However, if trauma, brain pathology, or abnormal cardiac morphology is suspected, the following imaging could be obtained:
- Head CT
- Brain MRI
- Cardiac echocardiogram (EKG)
- Cardiac MRI
- Chest x-ray-evaluate lung hyperinflation in asthmatics (not needed for diagnosis)
Diagnostic Procedures/Other
- For evaluation of potential dysrhythmias, consider the following:
- EKG
- Holter monitor
- Electrophysiology study
- Stress test
- For evaluation of epilepsy or other neuroelectric disorder, consider an EEG.
- For evaluation of apnea, consider a sleep study.
Treatment
Medication
- No medication has been found to be definitively useful in preventing or treating breath-holding spells.
- It is important to note that breath-holding spells can occur in the presence of other conditions that can present with syncope and seizure-like activity. Should those conditions be present or suspected, additional treatments may be necessary.
- Multiple studies have evaluated the use of various medications to prevent and/or treat breath-holding spells. However, they are limited by inadequate sample size, power, and/or statistical significance.
- Iron therapy may be useful in breath-holding spells, particularly in children found to be anemic and/or iron deficient.
- Atropine and pacemakers have been used for those with severe bradycardia to good effect.
- Fluoxetine was noted to improve pallid breath-holding spells in another small study.
Additional Therapies
Reassurance is the primary treatment.
Issues for Referral
Referral is not necessary unless diagnoses on the differential could not be excluded or if the spells do not conform to the normal pattern and/or the normal age range.
Inpatient Considerations
- Inpatient hospital admission for breath-holding spells is not necessary as they are a benign condition. However, if other diagnoses are being considered, if the patient required resuscitation, or if the patient requires ongoing support, an inpatient hospital admission and medical evaluation is warranted.
- Should an inpatient admission be warranted, other diagnoses should be considered and evaluated.
Additional Treatment
- Should loss of consciousness occur with a breath-holding spell, it is important to place the child on his or her side and ensure a clear airway.
- With the potential for altered muscle tone and additional injury, parents should ensure the environment around the child is safe.
Ongoing Care
Patient Education
The primary goal for ongoing care is parental education as to the natural history of breath-holding spells.
Prognosis
- As they are a benign condition, isolated breath-holding spells have an excellent prognosis without sequelae.
- Breath-holding spells typically resolve by school age.
- Should breath-holding spells not follow the typical course or time frame, additional diagnoses should be considered (could impact the prognosis).
Complications
Although some have postulated the potential for the development of syncope, epilepsy, and neurodevelopmental disorders, no definitive associations have been found.
Additional Reading
- DiMario FJ Jr. Breath-holding spells in childhood. Am J Dis Child. 1992;146(1):125-131. [View Abstract]
- DiMario FJ Jr. Prospective study in children with cyanotic and pallid breath-holding spells. Pediatrics. 2001;107(2):265-269. [View Abstract]
- Lombroso CT, Lerman P. Breath-holding spells (cyanotic and pallid infantile syncope). Pediatrics. 1967;39(4):563-581. [View Abstract]
- Mocan H, Yildiran A, Orhan F, et al. Breath-holding spells in 91 children and response to treatment with iron. Am J Dis Child. 1999;81(3):261-261. [View Abstract]
- Narchi H. The child who passes out. Pediatr Rev. 2000;21(11):384-388. [View Abstract]
- Walsh M, Knilans TK, Anderson JB, et al. Successful treatment of pallid breath-holding spells with fluoxetine. Pediatrics. 2012;130(3):e685-e689. [View Abstract]
Codes
ICD09
- 786.9 Other symptoms involving respiratory system and chest
ICD10
- R06.89 Other abnormalities of breathing
SNOMED
- 90091006 Breath holding with temper (finding)
FAQ
- Q: What is the age range of the typical child with breath-holding spells?
- A: The typical age range of the child with breath-holding spells is 1-5 years of age.
- Q: What is the typical provocation and pathophysiology of the most common type of breath-holding spells?
- A: The most common breath-holding spells are cyanotic (80%). These are typically provoked by anger, which leads to crying, a Valsalva maneuver, decreased cardiac return, decreased cardiac output, decreased cerebral perfusion, and syncope.
- Q: Is there a genetic basis for breath-holding spells?
- A: An autosomal dominant trait has been found in some patients with breath-holding spells.
- Q: What are the common diagnostic tools used to diagnose breath-holding spells?
- A: Breath-holding spells are diagnosed primarily by obtaining a good history and performing a physical exam, the latter of which should be normal. Additional diagnostic tools should only be used if a separate diagnosis is being considered due to unusual history or abnormal physical exam findings.
- Q: How are breath-holding spells managed and prevented?
- A: Breath-holding spells require reassurance provided to the family about acute management and their natural history. At this time, there is no way to prevent breath-holding spells.