Pseudo-obstructive sleep disordered breathing - definition and progression in Spinal Muscular Atrophy.

BACKGROUND: Obstructive sleep disordered breathing (SDB) is prevalent in patients with Spinal Muscular Atrophy (SMA) and possibly reduced by disease modifying treatment (DMT) such as nusinersen. We hypothesized that some obstructive events may in fact be pseudo-obstructive, reflecting the imbalance of chest wall weakness with preserved diaphragmatic function, rather than true upper airway obstruction. If confirmed, these events could represent SMA-specific outcome measures. We aimed to report on the pattern observed in respiratory polygraphies (PG) in paediatric patients with SMA type 2 resembling obstructive SDB. We defined pseudo-obstructive SDB and assessed its changes throughout disease progression.

METHODS: Retrospective review of 18 PG of 6 SMA type 2 patients naïve from DMT across 3 timepoints (first study, one-year follow-up, latest study).

RESULTS: At first study patients aged 3-13 years. Four patients were self-ventilating in room air and one of them required non-invasive ventilation (NIV) after the 1-year study. Two patients were on NIV since the first study. The features of pseudo-obstructive SDB included a. paradoxical breathing before, after, and throughout the event, b. the absence of increased respiratory rate during the event, c. the absence of compensatory breath after the event with a return to baseline breathing. Pseudo-obstructive events were progressively more prevalent over time. The derived pseudo-obstructive AHI increased at each timepoint in all patients self-ventilating, whilst it dropped after NIV initiation/adjustments.

CONCLUSIONS: Pseudo-obstructive SDB is prevalent in SMA type 2. Its number progresses along with the disease and is treatable with NIV. Prospective studies in larger SMA cohorts are planned.