My Baby Turned Blue!

1. My Baby Turned Blue! What Direction To Take Chris Landon MD FAAP, FCCP Director of Pediatrics Ventura County Medical Center

2. An Apparent Life-Threatening Event (ALTE) is an episode that frightens a child’s caretaker. These events can involve any of the following: • Apnea • Color change (cyanosis, pallor, erythema, plethora) • Marked change in muscle tone (limpness) • Choking or gagging

3. These events usually occur in infants less than 12 months old, but ALTE should be suspected in any child less than 2 years of age who displays these symptoms.

4. Most patients will appear stable and may have a normal physical exam by the time field personnel arrive. Despite their appearance, some of these patients will be later diagnosed with conditions that may require further medical care.

5. PURPOSE • To increase awareness of the risks of Apparent Life-Threatening Events, and to encourage the transport of patients who have suffered symptoms of an ALTE.

6. TREATMENT • Provide routine pediatric medical care. • Assume the history given is accurate. • Obtain a description of the severity, nature, and duration of the event.

7. Any known chronic illnesses? Evidence of seizure activity? Current or recent infections? History of gastroesophageal reflux (spitting, vomiting)? Inappropriate mixture of formula? History or evidence of recent trauma? Medications? (current and recent), including over the counter drugs Associated events (eating, crying, etc.) Complete a comprehensive physical exam. Include evaluation of the child’s appearance, skin color, and interaction with the environment and parents. Check for any evidence of trauma. Treat any identifiable injuries/illnesses.

8. Transport. • If the parent or guardian refuses medical care and/or transportation, make base contact with the Base Hospital Physician prior to completing an AMA form and leaving the scene.

9. Background: Infant apnea, more appropriately called an apparent life-threatening event (ALTE), was defined by the 1986 National Institutes of Heath Consensus Development Conference on Infantile Apnea and Home Monitoring as follows: "An episode that is frightening to the observer and is characterized by some combination of apnea (central or occasionally obstructive), color change (usually cyanotic or pallid but occasionally erythematous or plethoric), marked change in muscle tone (usually marked limpness), choking or gagging.

10. In some cases, the observer fears that the infant has died. Previously used terminology, such as "aborted crib death" or "near miss SIDS" should be abandoned as it implies a, possibly, misleading close association between this type of spell and SIDS.

11. This definition encompasses a broad range of behaviors and potential diagnoses. In most cases, the emergency physician will be examining a well-appearing infant who has experienced an ALTE prior to arrival at the ED or an infant who has home apnea and bradycardia monitoring with a history of frequent monitor alarms. The challenge lies in using the history provided by the caretakers to make a presumptive diagnosis and an appropriate referral.

12. Pathophysiology: ALTE is not so much a specific diagnosis as a description of an event. There are several potential causes for such an event. These include central apnea, obstructive apnea, gastroesophageal reflux (GER), cardiac arrhythmia and seizure disorder. ALTE is also a common complaint for parents who are perpetrators of Munchausen's syndrome by proxy and may be a secondary manifestation of certain types of child abuse. Apnea may be a part of the presentation of infants with sepsis and other severe illnesses. However, these infants will not be well appearing and a discussion of the management of such patients will be reviewed at a later lecture.

13. The cause of central apnea is unclear. Certain drugs are known to cause central apnea but, in most cases, there is no history of drug exposure. It is important for the examining physician to ask about maternal illicit drug use, particularly when the infant is breast-fed or when smokeable substances are possibly being used. Carbon monoxide poisoning must be considered, as young infants are more likely to be affected than adults are due to fetal hemoglobins.

14. The usual cause of central apnea is often presumed to be immaturity of the respiratory center, with a weaker respiratory response to hypercapnia. Studies of patients followed in apnea centers have shown increased respiratory pauses compared to age-matched controls. However, there appears to be no correlation between these events and lower levels of oxygen. Studies of hypercapnia in infants with known apnea have failed to demonstrate an abnormal response to CO2.

15. Obstructive apnea may occur for several reasons. Some infants have laryngomalacia or tracheomalacia. In these cases a thin, floppy upper airway and trachea, which is prone to collapse during the negative pressure of inspiration. Such infants are prone to stridorous breathing.

16. Obstructive apnea may also occur as a result of gastroesophageal reflux (GER). Although apnea from GER usually has another cause, in some cases, GER causes laryngospasm and obstructive apnea. Infants with severe GER may have apnea due to stimulation of chemoreceptors around the larynx. This results in central apnea, bradycardia and pallor. In older patients with GER, ALTE is more likely to result from laryngospasm.

17. Cardiac arrhythmias cause ALTEs for obvious reasons. Infants with prior cardiac surgery or known congenital defects in the vicinity of the conducting system are possible victims but, in most cases, the causes for the arrhythmia are obscure. The infant with a cardiac cause for ALTE is less likely to present with primary apnea.

18. Neonatal seizures are often quite different from those seen in older children. While apnea may result from seizures, it is usually not the only symptom. Most patients with seizures also have abnormal movements or posturing, and lateralizing eye movements.

19. Apnea and ALTE are also seen as a result of child abuse and should be considered in cases of infants who are not well appearing on arrival. Munchausen's syndrome by proxy may be suspected in the infant who has recurrent or bizarre ALTEs, particularly when the family has been to several EDs and physicians with the same complaint and "no one can find the cause". A previous SIDS death in the same family also increases the risk of Munchausen's by proxy.

20. Frequency: • In the US: Estimates of the incidence of ALTE range from 0.5-6% in the general population. However, the studies upon which these estimates are based have methodological flaws, which make them hard to interpret. • Internationally: The worldwide incidence of ALTE is unknown. One report from Sweden places the incidence of apnea during the first 4 d of life at 0.35/1,000 population.

21. Mortality/Morbidity: • There are studies that suggest 5-10% of victims of SIDS have had a previous ALTE. Eight studies of mortality among patients with a history of ALTE place the death rate at 1% with some, but not all, patients dying of SIDS. On the other hand, it is well recognized that most victims of SIDS have not had a prior ALTE.

22. Sex: Data on this subject are variable but most studies demonstrate a male predominance. In some studies the male to female ratio among infants with ALTE is as high as 2:1.

23. Age:The average infant presenting after an ALTE is 8-14 wk. About 7% of these infants were born prematurely.

24. History: In most cases, the child will have been seen to change colors and/or stop breathing or will have been found limp by the caretakers. Additionally, he/she may have experienced a significant episode of coughing, choking, or gagging.

25. Physical: In the vast majority of cases, the infant appears well and the examination will be entirely normal. Infants who are not well appearing may have a variety of serious disorders (see Differential Diagnosis, below) so it is most important to identify infants who look sick.

26. Causes: • Bacteremia and Sepsis Bronchiolitis Sudden Infant Death Syndrome

27. Other Problems to be Considered: Well Child, Anxious Mother (diagnosis of exclusion)Child Abuse (Munchausen's by proxy)Status Epilepticus and Seizure DisordersDysrhythmiasCardiac Congenital Malformations

28. If the infant is truly well afebrile and well appearing, laboratory studies are likely to be normal. If the infant is not well appearing or if assessment is impossible due to age, the following studies should be considered: Complete blood count (CBC) with differential Electrolytes Lumbar puncture Urinalysis These tests will identify the presence of an unexplained metabolic acidosis and help to identify the potentially septic infant or the infant with unexplained anemia. Additionally, the combination of hyperkalemia and hyponatremia may be the first suggestion of congenital adrenal hyperplasia in the male infant. When the clinical presentation warrants, a carboxyhemoglobin level, methemoglobin level and a screen for certain toxins (e.g., cocaine) should be considered. If the infant has a history of central apnea, he/she may be on theophylline or caffeine, which stimulates the central respiratory centers. Therefore, levels of these drugs to document therapeutic levels and/or compliance, may be helpful.

29. Imaging Studies: In most cases no imaging studies are needed. In those cases where raised intracranial pressure or intracranial hemorrhage is suspected a heed CT scan is indicated. In premature infants a head CT scan may reveal intraventricular and periventricular hemorrhages. When child abuse is being seriously considered, a skeletal survey should be obtained. Other Studies: A neurologists may request admission for an EEG.

30. Prehospital Care: Prehospital care of the infant with an ALTE includes resuscitation, if necessary, and monitored transport to an ED. If the infant has an apneic event during transport, prehospital personnel should first attempt simple manual stimulation of the infant. Brisk rubbing along the back, patting and thumping the feet may be tried. If these maneuvers fail, artificial ventilation should be initiated.

31. Emergency Department Care: In the ED, all infants who have sustained an ALTE should have cardiac and respiratory monitoring. Ill-appearing infants should be treated as needed based upon their clinical condition. This may include resuscitation or treatment of sepsis. Well-appearing infants may need no emergency treatment other than a careful history and physical examination.

32. Consultations: Consultation is most important for those patients who are on home monitoring. Most of these children are followed by a special apnea service. Such services may be helpful by providing important historical data about the patient. Also, they often facilitate contact with the company providing the monitoring service. Additionally, the apnea service may be able to simplify the process of admission or transfer to a tertiary care pediatric facility.

33. Further Inpatient Care: Most children who have sustained an ALTE should be admitted for treatment of their underlying medical problem, or for a diagnostic evaluation. The diagnostic evaluation of the child with ALTE usually includes a multichannel study. The infant is observed for an extended period of time while monitors record data (e.g., EEG, ECG, esophageal pH probe, chest movement monitor and a nasal airflow monitor). Such monitoring requires some expertise and is probably best conducted in a pediatric center.

34. Outpatient Care There are 3 types of children who may be safely discharged for further outpatient management. If the history suggests that the family misinterpreted a normal episode of periodic breathing The infant/child is well appearing in the ED If the infant had no color change and is not seen to have frequent episodes of periodic breathing during a reasonable period of monitored observation Similarly, if the history suggests an isolated choking episode in an infant who feeds aggressively, the child may be discharged. The parents of such children should be instructed to interrupt feeding more frequently and to burp their infant often.

35. Outpatient Care Finally, those infants already on a home monitor may be discharged with the following provisions: The infant is well appearing. The problem is unequivocally related to the monitor. The monitor problem can be corrected or the monitor can be replaced.

36. Transfer: Most infants who have an ALTE should be evaluated in a facility with expertise in the diagnostic evaluation of such patients. The team transporting the infant should be capable of monitoring and, if necessary, resuscitating an infant. If available, a pediatric transport team is an excellent choice.

37. The relationship between ALTE and SIDS is unknown. Certainly, some infants who have ALTEs would have died had they not been found in time. One complication, which is often ignored, is the psychological impact of home monitoring upon the family. Monitoring places a tremendous amount of pressure on the caretakers. Families deal with these pressures in many ways. Some parents eventually stop using the monitor while others become dependent upon it. Some families experience renewed fears when they are told that their child no longer requires home monitoring. Many of these stressors may be manifested in the ED. It is not hard to imagine the parents of a child about to have his/her home monitor discontinued presenting to the ED with a complaint of frequent alarms in hope of having the period of monitoring continued.

38. Prognosis: Most children who survive an ALTE and are placed on home monitoring do well. In general, as the child matures, the cause of the ALTE is diagnosed and treated or spontaneously resolves.

39. Patient Education: Parents of infants who are discharged should be instructed to return if: more episodes occur, episodes become associated with color change, or new and/or worrisome findings (such as fever, lethargy, or frequent vomiting) develop. Infants who have had a choking episode should receive feeding instructions as described above. Families of monitored infants should be reminded to maintain current CPR training.

40. From a Medical-Legal Standpoint It is far better to err on the side of admission of most of these infants. Even though the baby is well appearing at the time of ED evaluation, he or she may have had a significant episode. Only those infants who have had a single episode of periodic breathing not associated with color change, an isolated and explainable choking episode or an unequivocal mechanical problem with a home monitoring device, should be considered candidates for discharge.

41. All patients discharged from the ED should have strict instructions to return if the infant's condition worsens. For example, 1 episode of periodic breathing is acceptable, 10 episodes are not. • All infants presenting for ALTEs should be monitored while in the ED. • Should transport be necessary, monitoring is also required. • Additionally, all infants transported for the evaluation and treatment of ALTEs should be transported by a team capable of resuscitating an infant. • It is the responsibility of the referring institution to insure an appropriate method of transport.

42. Special Concerns: Cyanotic Heart Disease Tetralogy of Fallot Transposition of the great vessels Truncus arteriosus Total anomalous pulmonary venous return

43. CME Question 1: A well-appearing infant is brought to the emergency department by his/her parents. The parents state that the child "turned blue". All EXCEPT which one of the following are likely diagnoses? A: Central apneaB: Overwhelming sepsisC: Cardiac arrhythmiaD: Gastroesophageal refluxE: Seizure disorderThe correct answer is B: The other 4 conditions that are listed may cause a well-appearing infant to have an ALTE. The infant with sepsis is unlikely to be well appearing.

44. CME Question 2: More unusual causes of an apparent life-threatening event (ALTE) include all of the following EXCEPT? A: Munchausen's syndrome by proxyB: Carbon monoxide poisoningC: Inhalation of smokeable drugs of abuseD: Central (idiopathic) apneaE: Ingestion of toxinsThe correct answer is D: Central apnea, sometimes called idiopathic central apnea, is a common cause of ALTE. The other entities are much less common.

45. Pearl Question 1 (T/F): A mother was holding her 6-month-old male child when he suddenly assumed a strange posture. The mother reports that he had stiffening and extension of his right arm and that his head turned to the right. This was associated with a "blue spell." The most likely cause is gastroesophageal reflux. The correct answer is False: Seizures would be the most likely cause of an ALTE associated with an unusual posture or abnormal movements.

46. Pearl Question 2 (T/F): The relationship of ALTE to sudden infant death syndrome is well understood? The correct answer is False: The relationship is unknown. Only a fraction of the infants diagnosed with ALTEs go on to die of SIDS.

47. Pearl Question 3 (T/F): A careful history will often reveal the cause of ALTE. The correct answer is True: A careful medical history is the best way to make a presumptive diagnosis. Sophisticated (and expensive) testing can be employed judiciously when the examining physician has done a good history.

48. Pearl Question 4 (T/F): A newborn infant is brought into the Emergency Department because he "stopped breathing." During your physical examination, the mother screams "Oh my God, he's doing it again." You note no color change. The episode lasts 8 seconds (by your watch) after which normal breathing resumes. The most likely diagnosis is a normal respiratory pause. The correct answer is True: The most likely diagnosis is normal periodic breathing. Normal infants have respiratory pauses lasting up to 20 seconds. These are nothing to be alarmed about unless they are very frequent or prolonged.