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Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy

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 nu...

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Autores principales: Belter, Lisa, Mazzella, Allison, O’Brien, Shannon, Jarecki, Jill
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9642888/
https://www.ncbi.nlm.nih.gov/pubmed/36346824
http://dx.doi.org/10.1371/journal.pone.0276756
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author Belter, Lisa
Mazzella, Allison
O’Brien, Shannon
Jarecki, Jill
author_facet Belter, Lisa
Mazzella, Allison
O’Brien, Shannon
Jarecki, Jill
author_sort Belter, Lisa
collection PubMed
description 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.
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spelling pubmed-96428882022-11-15 Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy Belter, Lisa Mazzella, Allison O’Brien, Shannon Jarecki, Jill PLoS One Research Article 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. Public Library of Science 2022-11-08 /pmc/articles/PMC9642888/ /pubmed/36346824 http://dx.doi.org/10.1371/journal.pone.0276756 Text en © 2022 Belter et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Belter, Lisa
Mazzella, Allison
O’Brien, Shannon
Jarecki, Jill
Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
title Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
title_full Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
title_fullStr Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
title_full_unstemmed Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
title_short Knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
title_sort knowledge of genetic test results among caregivers and individuals with spinal muscular atrophy
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9642888/
https://www.ncbi.nlm.nih.gov/pubmed/36346824
http://dx.doi.org/10.1371/journal.pone.0276756
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