ArticleOrphanet journal of rare diseases2026
Swallowing development in infants and toddlers with spinal muscular atrophy following therapy compared to healthy controls: the prospective controlled DySMA trial.
Article in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSwallowing development is a crucial outcome measure for evaluating the effectiveness of disease-modifying therapies (DMT) in children with spinal muscular atrophy (SMA). However, data on this aspect remain limited due to a lack of assessment tools. This study aimed to evaluate swallowing development in infants and toddlers with SMA, compare it with healthy controls (HC), and investigate the influence of initial symptom status at start of DMT and SMN2 copy number.
methodsAn observational study was conducted with infants and toddlers diagnosed with SMA at a single neuropediatric center and a HC group. Swallowing development was primarily assessed using the DySMA scale. Group differences and the impact of initial symptom status and SMN2 copy number on swallowing were analyzed using linear mixed-effects models.
resultsThe study included 127 infants and toddlers, 35 with SMA (0–36 months, 19 girls), who started DMT either presymptomatically (n = 18) or symptomatically (n = 17), with two (n = 26) or three (n = 9) SMN2 copies, predominantly receiving Onasemnogene abeparvovec alone (n = 26), and a healthy control group (n = 92, 0–23 months, 34 girls). Children with SMA displayed significantly different swallowing development trajectories (-0.06 DySMA points by months of life, p=.06; 95% CI -0.13 to 0.01) compared to HC (+ 0.45 DySMA points by months of life, p<.01, 95% CI 0.25 to 0.65). Notably, those treated presymptomatically demonstrated swallowing progress comparable to HC up to 15–17 months but experienced a decline thereafter (18–24 months; β = 8.22, p<.001; 95% CI 4.20 to 12.26). The group with three SMN2 copies exhibited a developmental pattern similar to HC up to the age of 24 months.
conclusionHigher SMN2 copy number and presymptomatic DMT initiation were associated with similar early swallowing development compared to HC. Long-term studies stratifying swallowing development by SMN2 copy number are warranted.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.