ATS core curriculum 2023. Pediatric pulmonary medicine: Respiratory disorders in infants.

The American Thoracic Society Core Curriculum updates clinicians annually in pediatric pulmonary disease. This is a summary of the Pediatric Pulmonary Medicine Core Curriculum presented at the 2023 American Thoracic Society International Conference. The respiratory disorders of infancy discussed in this year's review include: the care of the patient with bronchopulmonary dysplasia in the neonatal intensive care unit, clinical phenotypes and comorbidities; diffuse lung disease; pulmonary hypertension; central and obstructive sleep apnea. The care of infants with respiratory disorders often poses significant challenges to the general pediatric pulmonologist, sleep clinician, and neonatologist. This review aims to highlight the most clinically relevant aspects of the evaluation, management, and outcomes of infants with these key respiratory disorders, while emphasizing the importance of multidisciplinary care. Furthermore, this document summarizes essential aspects of genetic testing, novel imaging and treatment modalities, and includes multiple resources for clinical practice.

Prevalence of pulmonary hypertension on echocardiogram in children with severe obstructive sleep apnea.

STUDY OBJECTIVES: Pulmonary hypertension (PH) is a rare yet serious complication of obstructive sleep apnea (OSA). Echocardiographic screening for PH is recommended in children with severe OSA, but the health care burden of universal screening is high. We sought to determine the prevalence of PH on echocardiogram among children with severe OSA and identify variables associated with a positive PH screen. METHODS: Retrospective study of 318 children with severe OSA (obstructive apnea-hypopnea index ≥ 10 events/h) and echocardiogram within 1 year of polysomnogram. PH-positive echocardiogram was defined by peak tricuspid regurgitation velocity ≥ 2.5 m/s and/or 2 or more right-heart abnormalities suggestive of elevated pulmonary artery pressure. Patient characteristics and polysomnogram data were compared to identify factors associated with PH. RESULTS: Twenty-six children (8.2%; 95% confidence interval [CI] 5.4-11.8%) had echocardiographic evidence of PH. There was no difference in age, sex, body mass index, obstructive apnea-hypopnea index, or oxygenation indices between patients with and without PH. Sleep-related hypoventilation (end-tidal CO2 > 50 mmHg for > 25% of total sleep time) was present in 25% of children with PH compared with 6.3% of children without PH (adjusted prevalence ratio = 2.73; 95% CI 1.18-6.35). Forty-six percent of children (12/26) with PH had Down syndrome vs 14% (41/292) without PH (adjusted prevalence ratio = 3.11; 95% CI 1.46-6.65). CONCLUSIONS: There was a relatively high prevalence of PH on echocardiogram in our cohort of children with severe OSA. The findings of increased PH prevalence among children with sleep-related hypoventilation or Down syndrome may help inform the development of targeted screening recommendations for specific pediatric OSA populations. CITATION: Maloney MA, Davidson Ward SL, Su JA, et al. Prevalence of pulmonary hypertension on echocardiogram in children with severe obstructive sleep apnea. J Clin Sleep Med. 2022;18(6):1629-1637.

Pregnancy in congenital central hypoventilation syndrome.

BACKGROUND: Congenital central hypoventilation syndrome is a rare genetic disorder of autonomic regulation of breathing resulting from mutations in the paired-like homeobox gene. Individuals with congenital central hypoventilation syndrome demonstrate an absent or diminished physiological response to hypercapnia and hypoxia that is most severe during sleep and depend on mechanical ventilation to maintain normal gas exchange. Increased disease awareness and availability of paired-like homeobox gene testing has improved congenital central hypoventilation syndrome morbidity and mortality, and patients are now living into adulthood. During pregnancy, delivery, and the postpartum period, women with congenital central hypoventilation syndrome are vulnerable to developing respiratory insufficiency. Currently, there is no standardized approach to monitoring ventilatory status and anticipating the need for changes to existing ventilatory support for women with congenital central hypoventilation syndrome during pregnancy, labor, and delivery. OBJECTIVE: This study aimed to characterize current practices for monitoring ventilatory status and managing ventilatory needs in women with congenital central hypoventilation syndrome during pregnancy; identify specific circumstances through which ventilation may be compromised during pregnancy, delivery, and postpartum; evaluate utilization of prenatal congenital central hypoventilation syndrome testing; and report any adverse pregnancy outcomes. STUDY DESIGN: We conducted an anonymous cross-sectional survey of women with congenital central hypoventilation syndrome with current or prior pregnancy. The 26-item electronic questionnaire included questions on congenital central hypoventilation syndrome genotype; number and outcome of pregnancies; use of mechanical ventilation; and issues with or adjustments made to ventilation during pregnancy, delivery, and the postpartum period. RESULTS: We received 10 responses. Three patients were not diagnosed with congenital central hypoventilation syndrome until after pregnancy and delivery. The 7 patients with a preexisting congenital central hypoventilation syndrome diagnosis reported information on 10 total pregnancies. At baseline, patients relied on various types of ventilatory support including positive pressure ventilation via tracheostomy, bilevel noninvasive positive pressure ventilation, and diaphragm pacing by phrenic nerve stimulation. Polysomnography for objective assessment of nocturnal ventilation was not consistently utilized. Changes to baseline ventilatory support were required during 3 out of 10 pregnancies. In addition, 2 patients using diaphragm pacing reported discomfort with pacing during the third trimester or after cesarean delivery, prompting discontinuation of diaphragm pacing. In 1 instance, discontinuation of diaphragm pacing and lack of recognition of need for an alternative support method led to respiratory arrest and need for emergent resuscitation. All patients who were offered prenatal congenital central hypoventilation syndrome testing chose to undergo testing. Of note, 9 out of 10 pregnancies were carried successfully to term and 5 infants were diagnosed with congenital central hypoventilation syndrome. CONCLUSION: Women with congenital central hypoventilation syndrome may experience issues maintaining adequate ventilation during pregnancy, necessitating an adjustment of ventilator settings or use of an alternative type of ventilation. Objective assessment of nocturnal ventilation by means of polysomnography is an important part of congenital central hypoventilation syndrome pregnancy care to optimize maintenance of adequate gas exchange. Patients who rely on diaphragm pacing may experience discomfort with pacing during the later stages of pregnancy and after cesarean delivery. Anticipatory guidance and contingency planning for changing ventilatory needs should be discussed early in pregnancy. Prenatal congenital central hypoventilation syndrome testing should be offered to pregnant patients with congenital central hypoventilation syndrome to inform delivery decisions and prepare for the provision of advanced neonatal care.

Congenital central hypoventilation syndrome: diagnosis and management.

INTRODUCTION: Congenital central hypoventilation syndrome (CCHS) is a rare disorder defined by a failure in autonomic control of breathing secondary to mutations of the PHOX2B gene. Affected individuals demonstrate absent or diminished physiologic response to hypercapnia and hypoxia that is most severe during sleep as well as multi-system dysregulation of autonomic functions. Areas covered: In this review, we will discuss how evaluation of the disease-defining PHOX2B gene aids diagnosis and helps prognosticate disease severity, review disease physiology, describe clinical presentation and various aspects of autonomic nervous system dysregulation, review ventilatory strategies, and highlight current challenges in the care of these complex patients. Expert commentary: CCHS is a rare disorder that requires a high degree of vigilance. PHOX2B mutation is essential for diagnosis and also helps direct disease management. There is currently no pharmacologic treatment proven effective in improving disease-related hypoventilation and care is focused on providing adequate ventilatory support and managing autonomic dysfunction.