State-of-the-Art Pediatrics

Obstructive Sleep Apnea in Infants: “They are not just little children!”

Author: Zarmina Ehsan, MD, FAAP | Department of Pediatrics | Division of Allergy, Immunology, Pulmonary and Sleep Medicine | Associate Professor of Pediatrics, UMKC School of Medicine

Column Editor: Amita R. Amonker, MD, FAAP | Pediatric Hospitalist | Assistant Professor of Pediatrics, UMKC School of Medicine 

Sleep apnea is a sleep-related breathing disorder that affects children and adults worldwide. The two main categories are obstructive and central sleep apnea. Obstructive sleep apnea (OSA) is caused by an obstruction of the upper airway during sleep. Untreated OSA is associated with cardiovascular, metabolic and neurodevelopmental/cognitive dysfunction. The first few years of life are critical for neurocognitive development and therefore, the timely diagnosis and treatment of OSA can have a significant impact on long-term outcomes.

Infants typically present with noisy breathing that is worse or only present when asleep. Other symptoms can include pauses in breathing (apnea), gasping, irregular breathing, or cyanosis during sleep. In addition, hypoxemia during sleep can also be related to underlying OSA. About 11.8 to 26% of infants snore and nearly 10% of snoring infants have OSA.

The etiology of OSA in infants is multi-factorial and pathophysiology is unique from older children and adults. Broadly, this can be characterized as secondary to anatomic abnormalities (soft tissue vs. bone) or non-anatomic causes which include abnormal control of breathing and neuromuscular disorders. Some of these abnormalities manifest during awake and sleep periods, whereas others are only evident during sleep. Soft tissue abnormalities can include laryngomalacia (most common cause in this age group), adenoidal enlargement, tongue base collapse (as in Down syndrome) or multi-level upper airway abnormalities.

Bone abnormalities that contribute to OSA in infants are broadly related to craniofacial defects such as micrognathia (most common in this age group), mid-face hypoplasia, nasal obstruction or multi-level obstruction. Some infants can have OSA without any identifiable anatomic abnormalities and the etiology of this is typically neurologic or an abnormal control of breathing/maturational delay. A small proportion of these infants will “outgrow” the OSA. There are currently no national or international guidelines on the diagnosis or management of infant OSA. This poses a hindrance to care of these infants.

Existing literature in children suggests that clinical examination alone or questionnaires are not reliable in predicting OSA. In infants specifically, there is a significant overlap in symptoms of sleep disordered breathing in those with and without OSA. Moreover, children under 2 years of age are at a higher risk of upper airway obstruction (contributing to OSA) and are often symptomatic while awake.

An in-laboratory polysomnogram (sleep study) is the gold standard test to evaluate for obstructive sleep apnea in children. This test is underutilized in infants due to the need for specialty centers and support and must be performed in a dedicated pediatric sleep laboratory with experience in performing studies on infants.

A sleep study is recommended for infants with symptoms of OSA, particularly in those with craniofacial features or syndromes placing them at risk for OSA. A sleep study is an overnight test that involves a limited EEG, oximetry, heart rate monitoring, air flow channels placed near the nose, and leads placed on the infant that detect limb movements. Infants can feed or be changed overnight as they would in the home. OSA is diagnosed when there is more than one episode of apnea or hypopnea (shallow breath) per hour of sleep (the obstructive apnea-hypopnea index, AHIo). The cut-offs can vary between neonates vs. infants, and consultation with a pediatric sleep physician is recommended.

Management is determined based on the severity of OSA but in general includes either surgical or non-surgical management depending on the underlying etiology. Surgical management can involve supraglottoplasty, adenoidectomy, tracheostomy and mandibular distraction to name a few. Non-surgical management can include watchful waiting (no treatment), intranasal steroids, low-flow supplemental oxygen via nasal cannula, or continuous positive airway pressure therapy (CPAP)/non-invasive ventilatory support. The management of infant OSA typically involves a multidisciplinary approach with involvement from pulmonary and sleep medicine, otolaryngology, genetics, plastic surgery, and depending on the age of onset, neonatology.

At Children’s Mercy Kansas City, a care process model exists for the management of neonates with micrognathia and suspected OSA. By definition, all neonates with a diagnosis of Robin Sequence have airway obstruction and are therefore at risk of worsening obstruction during sleep – the hallmark of OSA. A multidisciplinary team of providers is engaged to ensure timely diagnosis, and appropriate management of OSA can be planned. The care process model can be accessed on the Children's Mercy website.

Suggested reading: 

1. Breugem CC, Evans KN, Poets CF, Suri S, Picard A, Filip C, Paes EC, Mehendale FV, Saal HM, Basart H, Murthy J, Joosten KF, Speleman L, Collares MV, van den Boogaard MJ, Muradin M, Andersson ME, Kogo M, Farlie PG, Don Griot P, Mossey PA, Slator R, Abadie V, Hong P. Best practices for the diagnosis and evaluation of infants with robin sequence: A clinical consensus report. JAMA Pediatr. 2016 Sep 1;170(9):894-902. doi: 10.1001/jamapediatrics.2016.0796. PMID: 27429161.
2. Kombathula R, Ingram DG, Ehsan Z. Current practice patterns in the diagnosis and management of sleep-disordered breathing in infants. J Clin Sleep Med. 2019 Oct 15;15(10):1427-1431. doi: 10.5664/jcsm.7968. PMID: 31596207; PMCID: PMC6778355.