The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration ... The diagnosis of severe breath-holding spells (BHS) in childhood is based on a distinctive and stereotyped sequence of clinical events beginning with a provocation resulting in crying or emotional upset that leads to a noiseless state of expiration accompanied by color change and ultimately loss of consciousness and postural tone (Lombroso and Lerman, 1967; DiMario, 1992). Two clinical types are recognized based on the child's coloration (cyanotic or pallid) during these events. Most children experience the cyanotic type, although some experience mixed types. BHS is an involuntary, nonvolitional, reflexic, nonepileptic paroxysmal phenomenon of childhood. The episodes occur during full expiration despite its misnomer. Autonomic dysregulation has been hypothesized as an underlying mechanism that results in loss of consciousness (Hunt, 1990; DiMario and Burleson, 1993; Dimario et al., 1998).
DiMario (2001) attempted to document prospectively the natural history of severe BHS among 95 children with both cyanotic and pallid BHS who were referred for neurologic consultation. Median onset age was between 6 and 12 months of age, ... DiMario (2001) attempted to document prospectively the natural history of severe BHS among 95 children with both cyanotic and pallid BHS who were referred for neurologic consultation. Median onset age was between 6 and 12 months of age, with 15% presenting younger than 6 months. The median frequency of spells was weekly, with 30% experiencing 1 or more spells per day. Hypoxic convulsions were associated with BHS in about 15%. A positive family history of BHS was identified in 34% of all families, with an equal frequency distributed between paternal and maternal sides.