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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]
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.
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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.
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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]