Pediatric acute respiratory distress syndrome in children with type I - spinal muscular atrophy: a 12-year case series.

UNLABELLED

Spinal muscular atrophy type 1 (SMA-1), a disease affecting the lower motor neurons in the anterior horn cells, causes substantial respiratory morbidity and mortality in children. While recent advances in disease modifying treatments (DMTs) have improved survival and quality of life in these patients, the management and outcomes of pediatric acute respiratory distress syndrome (pARDS) in SMA-1 children have not yet been described. To report the clinical outcome and characteristics of a group of children affected by SMA-1 suffering from the most serious acute respiratory disease, i.e., pARDS, we conducted a retrospective case series of 18 SMA-1 patients with pARDS admitted to a pediatric intensive care unit over a 12-year period (2010-2021). Parameters collected included demographics, clinical and radiological data, pathology results, and respiratory support. SMA-1 patients received standard intensive care pARDS protocols, along with additional respiratory techniques such as surfactant lavage and fiberoptic bronchoscopy if necessary. Eighteen children with SMA-1, aged 2 to 42 months at the time of the ARDS episode, were included. Data collection consisted of patient demographics, clinical and radiological data, pathology results, and information about the respiratory support. The main reason for pediatric intensive care unit (PICU) admission was acute respiratory failure, mainly complicating bronchiolitis/pneumonia or gastric aspiration. The median PaO2/FiO2 ratio for all patients was 95 (IQR 85; 113), with non-survivors showing a significantly lower ratio of 67 (p = 0.0283). Fifteen out of 18 patients (83.3%) survived to PICU and hospital discharge. Four patients required tracheostomy and long-term mechanical ventilation, while six were discharged on NIV. All patients who survived to hospital discharge were still alive at 24-month follow-up. Mild/moderate to severe pARDS remains a clinical challenge for SMA-1 children: the present series suggests survival is achievable and current intensive pARDS protocols may be applied in the SMA-1 population.

CONCLUSION

The availability of disease modifying treatments leading to improved survival and quality of life for this severe neuromuscular disease may warrant this movement toward a more aggressive approach. The promising short-term survival and respiratory outcomes observed in this study provide valuable preliminary evidence that challenges past assumptions of futility.

WHAT IS KNOWN

• Revolutionary therapies have drastically altered the natural history of type 1 spinal muscular atrophy (SMA-1), which is no longer an incurable and hopeless disease. • In SMA-1 infants, it has been considered futile to apply standard protocols to treat the most severe respiratory disease, namely acute respiratory distress syndrome (ARDS).

WHAT IS NEW

• This is the first case series describing pediatric acute respiratory distress syndrome (pARDS) in SMA-1 children, suggesting that standard pARDS treatment could be applied with achievable survival.