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Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening

The aim of this study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA), detected by newborn screening (NBS), for which first pilot projects started in January 2018 in Germany. The survey, performed 1–2 years after children’s diagnosis of SMA via NBS, in...

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Autores principales: Kölbel, Heike, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776462/
https://www.ncbi.nlm.nih.gov/pubmed/36553273
http://dx.doi.org/10.3390/children9121829
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author Kölbel, Heike
Modler, Laura
Blaschek, Astrid
Schara-Schmidt, Ulrike
Vill, Katharina
Schwartz, Oliver
Müller-Felber, Wolfgang
author_facet Kölbel, Heike
Modler, Laura
Blaschek, Astrid
Schara-Schmidt, Ulrike
Vill, Katharina
Schwartz, Oliver
Müller-Felber, Wolfgang
author_sort Kölbel, Heike
collection PubMed
description The aim of this study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA), detected by newborn screening (NBS), for which first pilot projects started in January 2018 in Germany. The survey, performed 1–2 years after children’s diagnosis of SMA via NBS, included 3 parent-related questionnaires to evaluate the psychosocial burden, quality of life (QoL)/satisfaction and work productivity and activity impairment in the families. 42/44 families, detected between January 2018 and February 2020, could be investigated. Interestingly, statistical analysis revealed a significant difference between families with children that received SMN-targeted therapy vs. children with a wait-and-see strategy as to social burden (p = 0.016) and personal strain/worries about the future (p = 0.02). However, the evaluation of QoL showed no significant differences between treated vs. untreated children. Fathers of treated children felt more negative impact regarding their productivities at work (p = 0.005) and more negative effects on daily activities (p = 0.022) than fathers of untreated children. Thus, NBS in SMA has a psychosocial impact on families, not only in terms of diagnosis but especially in terms of treatment, and triggers concerns about the future, emphasizing the need for comprehensive multidisciplinary care. Understanding the parents’ perspective allows genetic counselors and NBS programs to proactively develop a care plan for parents during the challenging time of uncertainty, anxiety, frustration, and fear of the unknown.
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spelling pubmed-97764622022-12-23 Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening Kölbel, Heike Modler, Laura Blaschek, Astrid Schara-Schmidt, Ulrike Vill, Katharina Schwartz, Oliver Müller-Felber, Wolfgang Children (Basel) Article The aim of this study was to assess the psychosocial burden in parents of children with spinal muscular atrophy (SMA), detected by newborn screening (NBS), for which first pilot projects started in January 2018 in Germany. The survey, performed 1–2 years after children’s diagnosis of SMA via NBS, included 3 parent-related questionnaires to evaluate the psychosocial burden, quality of life (QoL)/satisfaction and work productivity and activity impairment in the families. 42/44 families, detected between January 2018 and February 2020, could be investigated. Interestingly, statistical analysis revealed a significant difference between families with children that received SMN-targeted therapy vs. children with a wait-and-see strategy as to social burden (p = 0.016) and personal strain/worries about the future (p = 0.02). However, the evaluation of QoL showed no significant differences between treated vs. untreated children. Fathers of treated children felt more negative impact regarding their productivities at work (p = 0.005) and more negative effects on daily activities (p = 0.022) than fathers of untreated children. Thus, NBS in SMA has a psychosocial impact on families, not only in terms of diagnosis but especially in terms of treatment, and triggers concerns about the future, emphasizing the need for comprehensive multidisciplinary care. Understanding the parents’ perspective allows genetic counselors and NBS programs to proactively develop a care plan for parents during the challenging time of uncertainty, anxiety, frustration, and fear of the unknown. MDPI 2022-11-26 /pmc/articles/PMC9776462/ /pubmed/36553273 http://dx.doi.org/10.3390/children9121829 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kölbel, Heike
Modler, Laura
Blaschek, Astrid
Schara-Schmidt, Ulrike
Vill, Katharina
Schwartz, Oliver
Müller-Felber, Wolfgang
Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
title Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
title_full Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
title_fullStr Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
title_full_unstemmed Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
title_short Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
title_sort parental burden and quality of life in 5q-sma diagnosed by newborn screening
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9776462/
https://www.ncbi.nlm.nih.gov/pubmed/36553273
http://dx.doi.org/10.3390/children9121829
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