Overview
Definition:
Breath-holding spells are benign, involuntary episodes occurring in young children characterized by temporary cessation of breathing, often precipitated by emotional or painful stimuli
They are classified into cyanotic and pallid types based on the associated skin color changes and underlying physiological mechanisms.
Epidemiology:
Prevalence is estimated between 0.1% to 4.5% in children aged 6 months to 5 years
They are more common in toddlers and typically resolve by school age
There is no clear sex predilection, though some studies suggest a slight female predominance
Family history of breath-holding spells or fainting may be present.
Clinical Significance:
While benign, breath-holding spells can cause significant parental anxiety and can be mistaken for more serious conditions like epilepsy, leading to unnecessary investigations and treatments
Understanding the distinct types and their triggers is crucial for accurate diagnosis and appropriate parental counseling
Recognizing red flags is vital to rule out underlying cardiac or neurological pathology.
Clinical Presentation
Cyanotic Type:
Triggered by pain, frustration, anger, or fright
Child cries vigorously, then holds breath with glottis closed, leading to hypercapnia and hypoxia
Appears overtly distressed
May be preceded by a specific trigger event
Episodes are usually brief.
Pallid Type:
Triggered by a sudden shock, unexpected pain, or witnessing a distressing event
Child may cry briefly or not at all, then becomes pale (ashen appearance) and bradycardic
May be associated with transient asystole
Often appears less distressed than in cyanotic spells
Can occur even with minimal or no crying.
Associated Features:
In both types: transient loss of consciousness (syncope)
Following recovery: immediate return to normal awareness, may resume crying or appear fatigued
Possible urinary or fecal incontinence due to transient sphincter relaxation during syncope
No post-ictal confusion or lethargy typical of seizures.
Diagnostic Criteria:
Diagnosis is primarily clinical based on history
Key elements include: age of onset (6 months to 5 years), clear precipitating event (pain/emotional for cyanotic, shock for pallid), breath-holding followed by syncope, cyanosis (cyanotic type) or pallor/bradycardia (pallid type), brief duration, rapid recovery without neurological deficits, and absence of underlying cardiac or neurological disease
Provocation tests (e.g., supervised hyperventilation or stimulation) may be considered in equivocal cases but are generally not required if history is classic.
Diagnostic Approach
History Taking:
Detailed history from parents is paramount
Obtain precise description of the event: precipitating trigger, duration, sequence of events (cry, hold breath, color change, consciousness), post-event behavior, frequency, and any previous similar episodes
Inquire about any associated symptoms like fever, vomiting, or neurological deficits
Family history of syncope or seizures is important
Red flags to probe: exertional triggers, palpitations, chest pain, syncope during sleep, abnormal neurological exam, or any suspicion of cardiac arrhythmia.
Physical Examination:
A complete physical examination is essential to rule out underlying pathology
Focus on cardiovascular system (heart murmurs, arrhythmias, pulse deficit), neurological system (cranial nerves, motor strength, reflexes, gait), and respiratory system
Obtain vital signs, including heart rate and rhythm, and blood pressure
A normal physical examination strongly supports the diagnosis of benign breath-holding spells.
Investigations:
Investigations are typically guided by the presence of red flags
If the history is classic and examination is normal, no investigations may be needed
If suspicion of epilepsy: EEG
If suspicion of cardiac pathology (e.g., prolonged QT, arrhythmias): ECG, Holter monitoring, echocardiography
In rare cases, further cardiac evaluation might be warranted if recurrent, severe, or atypical spells occur
Blood tests (e.g., CBC, electrolytes) are generally not indicated unless there is suspicion of metabolic derangement.
Differential Diagnosis:
Epilepsy (absence, tonic-clonic seizures): characterized by post-ictal confusion, no clear trigger, or abnormal EEG
Cardiac arrhythmias (e.g., Long QT syndrome, AV block): may have palpitations, syncope during exertion or sleep, and characteristic ECG findings
Vasovagal syncope: typically occurs in older children/adolescents with prodromal symptoms like nausea, sweating, and is triggered by situational factors (standing, heat)
Reflex anoxic seizures: similar to pallid breath-holding spells but may have more prolonged asystole and are typically seen in infants
Malingering or factitious disorder: rare, usually with inconsistent or fabricated history.
Management
Parental Counseling:
The cornerstone of management
Educate parents about the benign nature of the condition and reassure them that it is not harmful
Explain the triggers and physiological mechanisms
Advise on appropriate responses: do not overreact, avoid punishing or rewarding the behavior, and do not yield to the child's demands after an episode
Prevention focuses on avoiding known triggers where possible, though this is not always feasible.
Avoiding Triggers:
For cyanotic spells, try to prevent situations leading to excessive crying or frustration, but this is difficult with toddlers
For pallid spells, sudden shocks should be minimized
However, the primary aim is to empower parents with coping strategies rather than eliminate all triggers.
Medical Management:
Pharmacological treatment is generally not indicated for typical breath-holding spells
Medications like pyridoxine (Vitamin B6) have been explored for refractory cyanotic spells but evidence is limited and not routinely recommended
Iron supplementation may be considered if iron deficiency anemia is identified as a contributing factor, though its role is controversial.
Supportive Care:
Reassurance for parents is the primary supportive measure
Parents should be taught to remain calm during an episode and allow it to resolve spontaneously
Avoid interventions unless the child is injured during the episode
Ensure safety by having the child lie down during or immediately after an episode to prevent falls.
Complications
Early Complications:
Rarely, prolonged or severe episodes can lead to injury from falls during syncope
In very rare instances, extreme hypoxia could theoretically lead to aspiration or, in extremely prolonged and unmanaged events, more significant neurological insult, but this is exceedingly uncommon in typical breath-holding spells.
Late Complications:
The primary "complication" is parental anxiety and the potential for misdiagnosis leading to unnecessary investigations and treatments
Once diagnosed correctly, there are typically no long-term sequelae
The spells usually cease spontaneously by age 5-6 years.
Prevention Strategies:
Prevention focuses on accurate diagnosis to avoid unnecessary interventions and providing effective parental education to reduce anxiety and manage episodes appropriately
Avoiding known triggers is a secondary strategy that may reduce frequency but is not always achievable or the primary goal.
Prognosis
Factors Affecting Prognosis:
The prognosis for breath-holding spells is excellent
The condition is benign and self-limiting
Factors that might influence parental anxiety include the severity or frequency of spells and the child's response.
Outcomes:
Children with breath-holding spells typically outgrow them without any long-term medical or neurological consequences
Syncope episodes cease spontaneously, usually by 5-6 years of age
The primary outcome desired is parental peace of mind and appropriate management.
Follow Up:
Follow-up is primarily for reassurance and to re-evaluate if the diagnosis is questioned or if red flag symptoms develop
If the spells resolve spontaneously and no underlying pathology was identified, routine follow-up is not typically required
Parents should be advised to seek medical attention if there are new symptoms or concerns.
Key Points
Exam Focus:
Distinguish cyanotic (pain/anger trigger, crying, hypercapnia) vs
pallid (shock trigger, pallor, bradycardia, asystole)
Classic history is key
Rule out epilepsy and cardiac arrhythmias
Benign and self-limiting
Parental reassurance is primary management.
Clinical Pearls:
Always ask for a detailed chronological account from parents
The lack of post-ictal confusion is a crucial differentiator from seizures
ECG is essential if any cardiac concerns are raised
Consider iron deficiency anemia in refractory cyanotic spells but manage judiciously.
Common Mistakes:
Over-investigating benign cases due to parental anxiety
Misdiagnosing as epilepsy and initiating anti-epileptic drugs
Not performing adequate cardiac evaluation when red flags are present
Failing to provide thorough parental counseling, leading to continued anxiety.