Breath holding spells occur in approximately 5% of the population with equal distribution between males and females. They are most common in children between 6 and 18 months and usually not present after 5 years of age. They are unusual before 6 months of age. A positive family history can be elicited in 25% of cases. It is often confused with epilepsy.
There are two types of breath holding spells. Cyanotic breath-holding spells are usually precipitated by anger or frustration although they may occur after a painful experience. The child cries and has forced exhalation leading to cyanosis (blue in color), loss of muscle tone, and loss of consciousness. The majority of children will regain consciousness and be fine within a minute or two, but some will fall asleep for an hour or so. Physiologically, there is often hypocapnea (low levels of carbon dioxide) and usually hypoxia (low levels of oxygen). The events are thought to occur due to a variety of factors, including the fact that the child is not breathing, there is increased intrathoracic pressure secondary to the Valsalva maneuver, and decreased cardiac output. This eventually leads to a significant decrease of circulation to the brain and ultimately, loss of consciousness. There is no "post ictal" phase (as is seen with seizures), no incontinence, and the child is fine in between spells. Electroencephalograms (EEG's) are normal in these children. There is no relationship to the development of seizures or cerebral injury.
With the second type, known as "Pallid" breath-holding spells, the most common stimulus is a painful event. The child turns pale (as opposed to blue) and loses consciousness with little if any crying. The EEG is also normal, and again there is no post ictal phase, nor incontinence. The child is usually alert within a minute or so. There may be some relationship with adulthood syncope in children with this type of spell.
A third type, known as "complicated" breath-holding spells, may simply be a more severe form of the two most common types. This type generally begins as either a cyanotic or pallid spell that then is associated with seizure like activity. An EEG taken while the child is not having a spell is still generally normal.
The diagnosis of a breath holding spell is made clinically. A good history including the sequence of events, lack of incontinence and no post ictal phase, help to make an accurate diagnosis. Some families are advised to tape the events to aid diagnosis. An electrocardiogram (ECG) may rule out cardiac arrhythmia as a cause. There is some evidence that children with anemia(especially iron deficiency) may be more prone to breath holding spells. The most important treatment is reassurance to the family, because witnessing a breath-holding spell is a frightening experience for observers. There is generally no treatment available or needed for breath holding spells, as the child will eventually outgrow them.