Absence or pause in breathing (apnea) that may be involuntary and is believed to be related to autonomic nervous system dysfunction. Mostly benign, it may lead to more serious conditions of bradycardia, asystole, cyanosis, syncope, and seizures. Onset is usually between 6 and 12 months of age, but could occur earlier. Some patients were found to have familial associations. Frequency of spells ranged from weekly to multiple times per day. About 60% of affected children were iron deficient. Associated with familial dysautonomia, conditions of breath holding appear to be linked to parasympathetic hypersensitivity and presence of chronic lung disease, carbon dioxide retention, and reduced lung volume. Laughing and crying appear to increase severity of involuntary breath-holding spells in children with familial dysautonomia. Another type of breath-holding spell is believed to be a voluntary behavioral episode related to temper tantrums and may occur from 6 months to 4 years of age.
Management of voluntary tantrum-related breath holding includes calm parental response, understanding, and support while implementing behavioral modifications related to crying, pain, excitement, overstimulation, and anger triggers. Involuntary breath holding can be managed with medications and iron supplementation. Pacemaker implantation may be considered for severe syncope, cyanosis, and bradycardia episodes, but the potential adverse effects of implantation should be considered.
ICD10CM: R06.89 – Other abnormalities of breathing