Pediatric neurology
August 7, 2026 · via Europe PMC
Spinal Muscular Atrophy, Sleep-Disordered Breathing, and the Effects of Disease-Modifying Therapies: A Narrative Review.
Surí-Báez CA, Kitada R, Lester J, Laureta EC, Kelly-Pieper K, Grigg-Damberger M, Kothare SV.
AI summary — for doctors, generated from the abstract only
Sleep-disordered breathing is common in SMA, especially in the first year after diagnosis, and disease-modifying therapies improve but do not eliminate it.
What was studied
Narrative systematic-style review of SDB incidence, mechanisms and the effects of DMTs in SMA.
Key findings
- SDB was most frequent in the first year after diagnosis, often central and mixed apnoea.
- DMTs had variable to positive effects, with the most evidence for nusinersen.
- Data for risdiplam were scant.
Clinical relevance
SMA clinicians should screen for sleep-disordered breathing even on treatment.
Who should care
Limitations
Evidence is from small studies and abstracts of varying quality.
Keep sleep studies and respiratory surveillance in SMA patients on DMTs.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
Background
This narrative review summarizes the current understanding of the incidence, prevalence, and potential underlying pathological mechanisms of sleep-disordered breathing (SDB) in patients with spinal muscular atrophy (SMA). Additionally, it evaluates the effects of disease-modifying therapies (DMTs) on SDB within this patient population.
Methods
We systematically evaluated the primary literature using the Covidence systematic review program and employed a modified Preferred Reporting Items for Systematic Reviews and Meta-Analyses approach.
Results
The incidence and prevalence of SDB in patients with SMA was greatest during the first year of diagnosis, with a notable percentage presenting as central and mixed sleep apnea. DMTs have demonstrated variable to positive effects on improving but not eliminating SDB in patients with SMA, with evidence most strongly favoring nusinersen. The literature search demonstrated a paucity of data for risdiplam.
Conclusions
Much of existing medical literature regarding SDB in SMA and the impact of DMTs is derived from studies of small sample sizes, abstracts, and varying methodologic rigor. To advance our understanding of DMTs' effects on the management and potential prevention of SDB in SMA, rigorous, multicenter, blinded prospective cohort studies with large sample sizes are essential. Furthermore, specific attention should be directed toward assessing the superiority of single-agent therapy versus combination therapy in mitigating the morbidity associated with SDB in SMA.
DOI
10.1016/j.pediatrneurol.2026.08.003
PMID
42759416
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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