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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]
Periodic breathing is clusters of breaths separated by intervals of apnea or near-apnea. As opposed to normal breathing which is usually regular, periodic breathing is defined as three or more episodes of central apnea lasting at least 4 seconds, separated by no more than 30 seconds of normal 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.
About 5,700 babies are born with Down syndrome each year in the U.S., and over 400,000 people in the country currently live with it, according to the Centers for Disease Control and Prevention (CDC).
Over 50% of infants who are born preterm are estimated to be affected by apnea of prematurity. [2] Infants who are born weighing less than 1000g have close to a 100% risk of being affected by apnea of prematurity. Most premature infants are affected by 'central' apnea due to the developmental stage of their respiratory tract. [2]
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For infants that have concerning features on history or physical, and are thus categorized as high-risk, further evaluation is warranted. This will vary greatly depending on the infants symptoms, but may include, urinalysis, complete blood count, imaging with chest x-ray, and laboratory screening for ingestion of medications or poisons.