Geeta Grover, MD, FAAP, and Peter Jinwu Chung, MD, FAAP
A 15-month-old girl is brought to the office because of parental concern about seizures. In the past month she has passed out momentarily 3 times. Each episode seems to be precipitated by anger or frustration on her part. Typically, she cries, holds her breath, turns blue, and passes out. Each time she awakens within a few seconds and seems fine. The medical history and family history are unremarkable, and the physical examination is entirely within normal limits.
1. What are breath-holding spells?
2. What is the differential diagnosis of breath-holding spell?
3. What, if any, laboratory studies are indicated in the evaluation of breath-holding spells?
4. What measures can be taken to prevent breath-holding spells? Are anticonvulsant agents necessary?
5. What are the effects of breath-holding spells on family functioning?
6. What, if any, are the long-term sequelae of breath-holding spells?
Breath-holding spells (BHSs) are a benign, recurring condition of childhood in which anger or pain produces crying that culminates in noiseless expiration and apnea. The frequency of BHSs, which are involuntary phenomena, is variable and ranges from several episodes a day to only several episodes per year. Although the spells are innocuous, they usually provoke fear and anxiety among parents and caregivers because children often turn blue and become limp. The diagnosis usually can be made on the basis of a characteristic history and description of the episode; however, the possibility of seizures should be considered.
Breath-holding spells occur in approximately 5% of all children between ages 6 months and 6 years, but they are most common in children between 12 and 18 months of age. Most children with BHS will have experienced their first episode by 18 months of age and nearly all will have done so by 2 years. Although BHSs have been described in children younger than 6 months, occurrence in such young infants is uncommon. Boys and girls are affected equally. Approximately 25% of patients have a positive family history for BHSs.
The typical clinical sequence of the major types of BHSs is described in the Pathophysiology section of this chapter and in Box 52.1. After a spell, the child may experience a short period of drowsiness.
Breath-holding spells may be classified as 1 of the nonepileptic paroxysmal disorders of childhood. These recurrent conditions, which have a sudden onset and no epileptiform focus, resolve spontaneously. Other disorders in this heterogeneous group include syncope, migraine, cyclic vomiting, benign paroxysmal vertigo, paroxysmal torticollis, sleep disorders (eg, narcolepsy, night terrors, somnambulism), and shudder attacks.
The 2 major types of BHS are cyanotic and pallid. Approximately 60% of children with BHS have cyanotic spells, 20% have pallid spells, and 20% have both types. Most commonly, affected children experience several spells per week. Approximately 15% of children with BHSs have complicated features. Complicated BHSs are defined as a typical BHS followed by seizure-like activity or rigid posturing of the body. Unlike the postictal period of epileptic seizures, prolonged periods of lethargy or drowsiness following spells are uncommon.
Pallid spells are similar to cyanotic BHSs with some exceptions. Pallid episodes are more commonly provoked by minor injury, pain, or fear rather than frustration or anger; the initial cry is minimal prior to apnea and loss of consciousness; and children become pale rather than cyanotic. In pallid BHSs, children often lose consciousness or tone after only a single gasp or cry, whereas in the cyanotic form, the period of apnea prior to loss of consciousness is much longer.
Although the spells are triggered by identifiable stimuli, they are involuntary phenomena. It is believed that loss of consciousness in the cyanotic and pallid forms is caused by cerebral anoxia. The mechanisms of the 2 types of BHS are different. The processes involved in cyanotic BHS are not clear. Proposed mechanisms include centrally mediated inhibition of respiratory effort and altered lung mechanics, which may inappropriately stimulate pulmonary reflexes, resulting in apnea and hypoxia. In the pallid form, the pale coloration and loss of tone are thought to result from vagally mediated severe bradycardia or asystole. Pallid spells have been spontaneously induced in the electroencephalogram (EEG) laboratory using ocular compression to trigger the oculocardiac reflex. Vagally mediated bradycardia or asystole lasting more than 2 seconds has been produced by this maneuver.
Box 52.1. Diagnosis of Breath-Holding Spells
•Identifiable precipitating event or emotion
•Color change, if present, prior to loss of consciousness and rhythmic jerking of extremities
•Rapid restoration of full activity
•Normal neurologic examination