{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T04:17:21Z","timestamp":1747196241002,"version":"3.40.5"},"reference-count":26,"publisher":"Public Library of Science (PLoS)","issue":"11","license":[{"start":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T00:00:00Z","timestamp":1667865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"2020 SMA-IC"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a progressive recessive genetic disease. Early identification is critical for achieving maximal treatment benefit. Survival motor neuron (SMN) 2 copy number may be a needed descriptor of disease severity than SMA type. Therefore, we assessed knowledge of<jats:italic>SMN2<\/jats:italic>copy number among those with SMA and their caregivers via a phone survey. Only patients with SMA (or their caregivers) registered in the Cure SMA database with no<jats:italic>SMN2<\/jats:italic>copy number on file were eligible. Descriptive results are reported. Backward stepwise multinomial logistic regressions determined if specific factors predicted knowledge of<jats:italic>SMN2<\/jats:italic>copy number. Engagement with the SMA community (odds ratio [OR] 1.82; p&lt;0.0001), ability to walk (OR 1.74; p = 0.006), and current age at time of survey (OR = 0.98; p&lt;0.0001) each positively predicted knowledge of<jats:italic>SMN2<\/jats:italic>copy number. Of 806 completed surveys, the majority (n = 452; 56.3%) did not know<jats:italic>SMN2<\/jats:italic>copy numbers for themselves (n = 190; 62.5%) or their loved ones (n = 261; 52.4%). Of these, 66 respondents (8.2%) said genetic testing had not been done. Motor function increased linearly with increasing<jats:italic>SMN2<\/jats:italic>copy number.<jats:italic>SMN2<\/jats:italic>copy number is emerging as a critical descriptor of severity for SMA as type becomes more obsolete with early drug treatment. Communication of<jats:italic>SMN2<\/jats:italic>copy numbers is recommended as a standard part of the treatment plan.<\/jats:p>","DOI":"10.1371\/journal.pone.0276756","type":"journal-article","created":{"date-parts":[[2022,11,8]],"date-time":"2022-11-08T18:52:14Z","timestamp":1667933534000},"page":"e0276756","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["Knowledge of genetic test results among caregivers and individuals with spinal muscular 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