Apnea is a term used to describe the temporary absence of spontaneous breathing. Infantile apnea occurs in children under the age of one year. Apnea may occur because of neurological impairment of the respiratory rhythm or obstruction of air flow through the air passages. The symptoms of infantile apnea include the stoppage of breathing during sleep, an abnormal bluish discoloration to the skin (cyanosis) and sometimes an unusually slow heartbeat (bradycardia). Infantile apnea may be related to some cases of sudden infant death syndrome. Episodes of apnea may decrease with age. However, several forms of adult sleep apnea also exist.
The symptoms of infantile apnea include the temporary cessation of breathing; an abnormal bluish discoloration of the skin, lips, and mouth (cyanosis), and/or an unusually slow heartbeat (bradycardia). Serious apnea is defined as the cessation of breathing during sleep for longer than 10 to 15 seconds.
Infantile sleep apnea may occur in several forms. The normal rate of respiration is regulated by groups of nerve cells in the brain. They control the rhythm of breathing in response to changing oxygen levels in the blood (respiratory drive). In central apnea, the respiratory drive is low and, during apneic episodes, there are no chest movements and no air passes through the mouth or nostrils. In this form of the disease, the brain does not send adequate signals to the diaphragm and lungs. Breathing stops and does not resume until the oxygen-starved brain sends impulses to the diaphragm and lungs.
In obstructive apnea (upper airway apnea), the airway is blocked and breathing may become difficult. Blockage may occur for a variety of reasons including collapse of the soft tissues of the throat. In this form of apnea, chest movements are present, but there is no air flow into the lungs. When breathing resumes, infants may make a loud “snorting noise” and become aroused from sleep. Obstructive apnea does not involve the cessation of breathing; rather, the affected infant struggles to breath and has increased respiratory effort.
Central apnea followed by or together with obstructive apnea is known as mixed apnea.
Some research indicates that in many cases the symptoms of infantile apnea may decrease with advancing age.
The exact cause of infantile apnea is not known. It may occur as the result of a combination of environmental and developmental factors (multifactoral). In extremely rare cases, central infantile apnea may be familial and affect more family members than would otherwise be expected.
Infantile apnea affects males and females in equal numbers and occurs in children less than 1 year old. Infants who are born prematurely tend to experience episodes of apnea (apnea of prematurity).
To help prevent the potentially severe complications of infantile apnea, home apnea and cardiac monitors can alert a parent or caregiver to an episode of symptoms. These devices should be purchased only under the advice of a physician who is knowledgeable about the safety and effectiveness of apnea and cardiac monitors. Treatment may sometimes include the administration of drugs that stimulate the respiratory system (i.e., theophylline or caffeine). Parents and caregivers should be knowledgeable in lifesaving techniques such as cardiopulmonary resuscitation (CPR). In some infants, overheating should be avoided to possibly help reduce the frequency of apneic episodes. The infant should sleep in a supine position, unless he/she has obstructive sleep apnea or gastroesophageal reflux.
If the symptoms of infantile apnea are severe, the drug aminophylline or another xanthine medication may be prescribed. Oxygen may be supplied as needed. For those infants with obstructive or mixed apnea, a medical device known as a continuous positive airway pressure (CPAP) may be used to assist regular breathing. A mask is placed on the infant's nose and is connected through a tube to the CPAP device. This machine forces air through the tube at low pressure that is sufficient to keep the infant's upper airway open and to allow air to enter the lungs.
Studies are ongoing to determine the causes of and new therapies for infantile apnea. Some drugs (e.g., primidone, etc.) are being studied for use in the treatment of this disease in infants who are resistant to theophylline. More studies are needed to determine the long-term safety and effectiveness of these drugs for the treatment of infantile apnea.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
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Cecil Textbook of Medicine, 19th Ed.: James B. Wyngaarden and Lloyd H. Smith, Jr., Editors; W.B. Saunders Co., 1992. Pp. 454, 2066-67.
The Merck Manual, 16th Ed.: Robert Berkow, Editor; Merck Research Laboratories, 1992. Pp. 1973, 1986.
Harrison’s Principles of Internal Medicine, 12th Ed.: Jean D. Wilson, et al., Editors; McGraw-Hill, Inc., 1991. Pp. 1119-21.
Nelson Textbook of Pediatrics, 14th Ed.: Richard E. Behrman, Editor; W.B. Saunders Co., 1992. Pp. 462-63, 1043-44.
Pulmonary Diseases and Disorders, 2nd Ed.: Alfred P. Fishman, Editor; McGraw-Hill Book Company, 1988. Pp. 1363-69.
Principles of Neurology, 5th Ed.: Raymond D. Adams and Maurice Victor, Editors; McGraw-Hill Information Services Company, 1993. Pp. 343-45.
Dictionary of Medical Syndromes, 3rd Ed.: Sergio I. Magalini, Sabina C. Magalini, and Giovanni de Francisci, Editors; J.B. Lippincott Company, 1990. Pp. 819-20.
The Use of Primidone in Neonates with Theophylline-Resistant Apnea. C.A. Miller, et al.; Am J Dis Child (Feb 1993; 147(2)). Pp. 183-86.
Association of Postoperative Apnea, Airway Obstruction and Hypoxemia in Former Premature Infants. C.D. Kurth, et al.; Anesthesiology (Jul 1991; 75(1)). Pp. 22-26.
Breathing Pattern Abnormalities in Full Term Asphyxiated Newborn Infants. P. Sasidharan; Arch Dis Child (Apr 1992; 67(4 Spec No)). Pp. 440-42.
Caffeine or Theophylline for Neonatal Apnea? J.E. Scanlon, et al.; Arch Dis Child (Apr 1992; 67(4 Spec No)). Pp. 425-28.
Obstructive, Mixed and Central Apnea in the Neonate: Physiologic Correlates. N.N. Finer, et al.; J Pediatr (Dec 1992; 121(6)). Pp. 943-50.
Apnea Spells, Sudden Death and the Role of the Apnea Monitor. T.G. Keens, et al.; Pediatr Clin North Am (Oct 1993; 40(5)). Pp. 897-911.
National Institutes of Health Consensus Development Conference on Infantile Apnea and Home Monitoring, Sept 29 to Oct 1, 1986. Pediatrics 1987, 79:292-99.
American Thoracic Society. Standards and Indications for Cardiopulmonary Sleep Studies in Children. Am J Respir Crit Care Med 1996; 153:866-78.
Blanchard PW, Aranda JV. Pharmacotherapy of respiratory control disorders. In: Beckerman, Brouillette, Hunt (eds.). Respiratory control disorders in infants and children. Baltimore, Williams, and Wilkins, 1992; 352-370.
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Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, last edit date 3/31/93. Entry Number 107640.
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