Spectrum of sleep-disordered breathing and quality of sleep in adolescent and adult patients with spinal muscular atrophy

Grazia Crescimanno; Antonino Lupica; Vito Tommasello; Vincenzo Di Stefano; Filippo Brighina; Oreste Marrone

doi:10.1111/jsr.14222

Spectrum of sleep-disordered breathing and quality of sleep in adolescent and adult patients with spinal muscular atrophy

J Sleep Res. 2024 Apr 23:e14222. doi: 10.1111/jsr.14222. Online ahead of print.

Authors

Grazia Crescimanno^{1

2}, Antonino Lupica², Vito Tommasello², Vincenzo Di Stefano², Filippo Brighina², Oreste Marrone¹

Affiliations

¹ National Research Council, Institute of Biomedical Research and Innovation (IRIB-CNR), Palermo, Italy.
² Regional Center for Diagnosis and Treatment of Neuromuscular Disease, Department of Biomedicine, Neuroscience and Advanced Diagnostic (BIND), University of Palermo, Palermo, Italy.

PMID: 38654474
DOI: 10.1111/jsr.14222

Abstract

Sleep-disordered breathing is common among children with spinal muscular atrophy, but has been hardly studied among adult subjects. Little is known about sleep quality in spinal muscular atrophy. The aims of this study were to evaluate occurrence and characteristics of sleep-disordered breathing and subjective sleep quality among adolescent and adult patients with spinal muscular atrophy type 2 or 3. Twenty patients aged 33.9 ± 15.2 years were studied. They underwent nocturnal cardiorespiratory monitoring, lung and muscular function evaluation, and were administered the Pittsburgh Sleep Quality Index questionnaire. Nineteen patients showed sleep-disordered breathing, with obstructive events in seven subjects and non-obstructive events in the remaining 12. In the latter group, 10 patients showed pseudo-obstructive hypopneas. Patients with non-obstructive sleep-disordered breathing were younger (p = 0.042), had a lower body mass index (p = 0.0001), were more often affected by spinal muscular atrophy type 2 (p = 0.001), and showed worse impairment of respiratory function than patients with obstructive sleep-disordered breathing. Ten patients were classified as poor sleepers and 10 patients good sleepers. In the whole sample, sniff nasal inspiratory pressure proved to be the only independent predictor of sleep quality (p = 0.009). In conclusion, sleep-disordered breathing is common even among adult patients with spinal muscular atrophy type 2 and 3, and may show either obstructive or different types on non-obstructive features. A worse respiratory muscle function is associated to non-obstructive sleep-disordered breathing and poorer sleep quality. Sleep quality should receive greater attention especially in patients with spinal muscular atrophy type 2, who have a poorer respiratory muscle function, as it could affect their quality of life.

Keywords: Pittsburgh Sleep Quality Index; pseudo‐obstructive respiratory events; quality of sleep; sleep disordered breathing; spinal muscular atrophy.