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The diagnosis of a breath-holding spell is made clinically. A good history including the sequence of events, lack of incontinence and no postictal phase, help to make an accurate diagnosis. Some families are advised to make a video recording of the events to aid diagnosis. An electrocardiogram (ECG) may rule out cardiac arrhythmia as a cause. [1]
Central apnea is quite common and can be found in healthy, full-term infants for short periods of time before breathing patterns in the infant stabilize. [4] In premature infants, central apnea is attributed to an underdeveloped respiratory system which results in decreased response to higher carbon dioxide levels and difficulty breathing. [1]
Apnea can also be observed during periods of heightened emotion, such as during crying or accompanied by the Valsalva maneuver when a person laughs. Apnea is a common feature of sobbing while crying, characterized by slow but deep and erratic breathing followed by brief periods of breath holding.
Periodic breathing during sleep occurs typically in adult patients with congestive heart failure. Periodic breathing is also a normal variation of breathing found in premature and full term infants. It occurs when the infant has pauses in breathing for no more than 10 seconds at a time followed by a series of rapid, shallow breaths.
Apnea of prematurity is a disorder in infants who are preterm that is defined as cessation of breathing that lasts for more than 20 seconds and/or is accompanied by hypoxia or bradycardia. Apnea of prematurity is often linked to earlier prematurity (younger gestational age).
Other causes that are less common include meningitis, urinary tract infection, breath-holding spells, congenital central hypoventilation syndrome, cancer, intracranial bleed, apnea of infancy, periodic breathing of infancy, choking, obstructive sleep apnea, factitious disorder imposed on another (formerly Munchausen syndrome).
Central sleep apnea is common in preterm, newborn, and infancy stages but a decrease in risk is found with aging and maturity of the central nervous system. Underlying neurological disorders are the most common cause of CSA in full term infants. Of the apnea related events in preterm infants born at less than 29 weeks, 25% are central in origin ...
Central hypoventilation syndrome (CHS) is a sleep-related breathing disorder that causes ineffective breathing, apnea, or respiratory arrest during sleep (and during wakefulness in severe cases). CHS can either be congenital (CCHS) or acquired (ACHS) later in life.