In:
PLOS ONE, Public Library of Science (PLoS), Vol. 17, No. 11 ( 2022-11-8), p. e0276756-
Abstract:
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 SMN2 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 SMN2 copy number on file were eligible. Descriptive results are reported. Backward stepwise multinomial logistic regressions determined if specific factors predicted knowledge of SMN2 copy number. Engagement with the SMA community (odds ratio [OR] 1.82; p 〈 0.0001), ability to walk (OR 1.74; p = 0.006), and current age at time of survey (OR = 0.98; p 〈 0.0001) each positively predicted knowledge of SMN2 copy number. Of 806 completed surveys, the majority (n = 452; 56.3%) did not know SMN2 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 SMN2 copy number. SMN2 copy number is emerging as a critical descriptor of severity for SMA as type becomes more obsolete with early drug treatment. Communication of SMN2 copy numbers is recommended as a standard part of the treatment plan.
Type of Medium:
Online Resource
ISSN:
1932-6203
DOI:
10.1371/journal.pone.0276756
DOI:
10.1371/journal.pone.0276756.g001
DOI:
10.1371/journal.pone.0276756.t001
DOI:
10.1371/journal.pone.0276756.t002
DOI:
10.1371/journal.pone.0276756.t003
DOI:
10.1371/journal.pone.0276756.t004
DOI:
10.1371/journal.pone.0276756.t005
DOI:
10.1371/journal.pone.0276756.t006
DOI:
10.1371/journal.pone.0276756.s001
DOI:
10.1371/journal.pone.0276756.s002
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2022
detail.hit.zdb_id:
2267670-3
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