A Prospective, Crossover Survey Study of Child- and Proxy-Reported Quality of Life According to Spinal Muscular Atrophy Type and Medical Interventions

2020 ◽  
Vol 35 (5) ◽  
pp. 322-330
Author(s):  
Meaghann S. Weaver ◽  
Rewais Hanna ◽  
Scott Hetzel ◽  
Karen Patterson ◽  
Alice Yuroff ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Survey Study ◽  
Type I ◽  
Family Impact ◽  
Proxy Report ◽  
Spinal Muscular Atrophy Type ◽  
Medical Interventions

Background: Spinal muscular atrophy is an autosomal-recessive, progressive neuromuscular disease associated with extensive morbidity. Children with spinal muscular atrophy have potentially increased life spans due to improved nutrition, respiratory support, and novel pharmaceuticals. Objectives: To report on the quality of life and family experience for children with spinal muscular atrophy with attentiveness to patient- and proxy-concordance and to stratify quality of life reports by spinal muscular atrophy type and medical interventions. Methods: A prospective, crossover survey study inclusive of 58 children (26 spinal muscular atrophy type I, 23 type II, 9 type III) and their family caregivers at a free-standing Midwestern children’s hospital. Twenty-eight families completed the 25-item PedsQL 3.0 Neuromuscular Module. Forty-four participants completed the 36-item PedsQL Family Impact Module and 47 completed the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) questionnaire. Results: The PedsQL Family Impact Module demonstrated significant differences between spinal muscular atrophy types I and II in functioning domains including physical, emotional, social, and family relations ( P < .03). Child self-report and proxy report surveys demonstrated significant differences between spinal muscular atrophy types in the communication domains ( P < .003). Children self-reported their quality of life higher than proxy report of child quality of life. Gastrostomy tube ( P = .001) and ventilation support ( P = .029) impacted proxy-reported quality of life perspectives, whereas nusinersen use did not. Spinal surgery was associated with improved parental quality of life and family impact ( P < .03). Conclusions: The measurement and monitoring of quality of life for children with spinal muscular atrophy and their families represents an implementable priority for care teams.

scholarly journals Quality of life data for individuals affected by Spinal Muscular Atrophy: A baseline dataset from the Cure SMA Community Update Survey

2020 ◽  
Author(s):  
Lisa Belter ◽  
Rosángel Cruz ◽  
Jill Jarecki
Keyword(s):  
Quality Of Life ◽  
Spinal Muscular Atrophy ◽  
Functional Status ◽  
Outcome Measures ◽  
Muscular Atrophy ◽  
Work Productivity ◽  
Type I ◽  
Activity Impairment ◽  
Patient Reported

Abstract BACKGROUND Individuals and/or caregivers of individuals affected by Spinal Muscular Atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of work productivity, and fatigue using the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Patient Reported Outcomes Measurement Information System Fatigue Short Form (PROMIS Fatigue SF), respectively. The purpose was to collect baseline quality of life results among individuals affected by SMA using the above Patient Reported Outcome Measures (PROMs). RESULTS Of 666 surveys completed between March and May 2019, 478 were included in this analysis, accounting for duplicates, missing data, or deaths. The breakdown across SMA type I, II and III was 25%, 47% and 28%, respectively. Responses were characterized by current functional status/milestone, with subsets for “permanent ventilation,” “non-sitters,” “sitters,” “walk with support,” and “walk alone.” WPAI and HUI respondents included affected adults and caregivers. The PROMIS Fatigue SF was completed by the primary caregiver of affected children. Overall, those affected by a less severe form of SMA and with a higher functional status reported higher HRQoL and lower work productivity and activity impairment. All affected individuals reported higher fatigue levels than the general population. CONCLUSIONS This study offers useful insights into the burden of SMA among affected individuals and their caregivers. The results provide a baseline picture of the patient and caregiver experience with SMA in a post-treatment era from which to measure year-over-year changes in quality of life scores from new therapies and improved care. The WPAI demonstrates the significant impact of work productivity among SMA populations. Aspects of the HUI seem more appropriate to certain SMA sub-populations than others. Measures from the PROMIS Fatigue SF appear to under-represent the burden of fatigue often reported by SMA individuals and caregivers; this may, perhaps be due to a lack of sensitivity in the questions associated with fatigue in the SMA affected population, when compared with other studies on this topic. Overall, these results suggest the need for SMA-specific quality of life outcome measures to fully capture clinically meaningful change in the SMA population.

scholarly journals Quality of life data for individuals affected by Spinal Muscular Atrophy: A baseline dataset from the Cure SMA Community Update Survey

2020 ◽  
Author(s):  
Lisa Belter ◽  
Rosángel Cruz ◽  
Jill Jarecki
Keyword(s):  
Quality Of Life ◽  
Spinal Muscular Atrophy ◽  
Functional Status ◽  
Outcome Measures ◽  
Muscular Atrophy ◽  
Work Productivity ◽  
Type I ◽  
Activity Impairment ◽  
Patient Reported

Abstract BACKGROUND Individuals and/or caregivers of individuals affected by Spinal Muscular Atrophy (SMA) completed the 2019 Cure SMA Community Update Survey, online, assessing health-related quality of life (HRQoL), loss of work productivity, and fatigue using the Health Utilities Index Questionnaire (HUI), the Work Productivity and Activity Impairment Questionnaire (WPAI), and the Patient Reported Outcomes Measurement Information System Fatigue Short Form (PROMIS Fatigue SF), respectively. The purpose was to collect baseline quality of life results among individuals affected by SMA using the above Patient Reported Outcome Measures (PROMs). RESULTS Of 666 surveys completed between March and May 2019, 478 were included in this analysis, accounting for duplicates, missing data, or deaths. The breakdown across SMA type I, II and III was 25%, 47% and 28%, respectively. Responses were characterized by current functional status/milestone, with subsets for “permanent ventilation,” “non-sitters,” “sitters,” “walk with support,” and “walk alone.” WPAI and HUI respondents included affected adults and caregivers. The PROMIS Fatigue SF was completed by the primary caregiver of affected children. Overall, those affected by a less severe form of SMA and with a higher functional status reported higher HRQoL and lower work productivity and activity impairment. All affected individuals reported higher fatigue levels than the general population. CONCLUSIONS This study offers useful insights into the burden of SMA among affected individuals and their caregivers. The results provide a baseline picture of the patient and caregiver experience with SMA in a post-treatment era from which to measure year-over-year changes in quality of life scores from new therapies and improved care. The WPAI demonstrates the significant impact of work productivity among SMA populations. Aspects of the HUI seem more appropriate to certain SMA sub-populations than others. Measures from the PROMIS Fatigue SF appear to under-represent the burden of fatigue often reported by SMA individuals and caregivers; this may, perhaps be due to a lack of sensitivity in the questions associated with fatigue in the SMA affected population, when compared with other studies on this topic. Overall, these results suggest the need for SMA-specific quality of life outcome measures to fully capture clinically meaningful change in the SMA population.

Spinal Muscular Atrophy Type 1 Quality of Life

2003 ◽  
Vol 82 (2) ◽  
pp. 137-142 ◽  
Author(s):  
John R. Bach ◽  
Jose Vega ◽  
Jennifer Majors ◽  
Al Friedman
Keyword(s):  
Quality Of Life ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Type

scholarly journals Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation

2021 ◽  
Vol 40 (4) ◽  
pp. 1578-1587
Author(s):  
Andrea Foppiani ◽  
Ramona De Amicis ◽  
Alessandro Leone ◽  
Simone Ravella ◽  
Giorgio Bedogni ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Fat Mass ◽  
Muscular Atrophy ◽  
Type I ◽  
Internal Validation ◽  
Spinal Muscular Atrophy Type ◽  
Children Development

scholarly journals Quality of life of  children with spinal muscular atrophy  and their caregivers  from the perspective of caregivers :  a Chinese cross-sectional study

2020 ◽  
Author(s):  
Mei Yao ◽  
Ying Ma ◽  
Ruiying Qian ◽  
Yu Xia ◽  
Changzheng Yuan ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscular Atrophy ◽  
Cross Sectional Study ◽  
Type I ◽  
Type Ii ◽  
Cross Sectional ◽  
Type Iii ◽  
Quality Of Life Inventory ◽  
Life Inventory

Abstract Background: Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease leading to dysfunction of multiple organs. SMA can impair the quality of life (QoL) of patients and family. We aimed to evaluate the QoL of children with SMA and their caregivers and to identify the factors associated with QoL in a cross-sectional study conducted in China.Methods: We recruited 101 children aged 0-17 years with SMA and their caregivers from a children’s hospital in China. Twenty-six children had type I SMA, 56 type II and 19 type III. Each child’s QoL was measured by the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module (PedsQL NMM), which was completed by the child’s caregivers. The caregiver’s QoL was measured by the Pediatric Quality of Life Inventory Family Impact Module (PedsQL FIM). Information on sociodemographic characteristics, disease-specific characteristics, and treatments were collected using the proxy-reported questionnaire. Two-sample t-tests and one-way ANOVA were used to compare differences in average scores of QoL across subgroups.Results: Children with type III SMA had a higher average Total score of PedsQL NMM and higher average scores in domains Neuromuscular disease and Family resources than children with type I or type II SMA (p < 0.001). Caregivers of children with type III SMA reported higher average scores in the domains of Physical, Emotional, Social, and Cognitive functioning of the PedsQL FIM than those of children with types I or II SMA (p < 0.05). In addition, disease-related characteristics (e.g. limited mobility, stable course of disease, skeleton deformity, and digestive system dysfunction) and respiratory support were associated with lower average scores of PedsQL NMM and PedsQL FIM (p < 0.05). Exercise training, multidisciplinary team management and use of the medication Nusinersen were each associated with higher average scores in both PedsQL NMM and FIM (p < 0.05). Conclusion: Our study has demonstrated factors that may impair or improve QoL of children patients with SMA and their parents. Particularly, QoL was relatively poor in children with type I and type II SMA as well as in their caregivers compared to those with type III SMA. We strongly recommend that standard of care in a multidisciplinary team (MDT) be strengthened to improve the QoL of SMA patients. Our study called for increased attention from clinical physicians on measuring QoL in their clinical practices in order to enhance the understanding of impacts of SMA and to make better decisions regarding treatment.

scholarly journals Drug treatment for spinal muscular atrophy type I

2019 ◽  
Author(s):  
Renske I Wadman ◽  
W Ludo van der Pol ◽  
Wendy MJ Bosboom ◽  
Fay-Lynn Asselman ◽  
Leonard H van den Berg ◽  
...  
Keyword(s):  
Drug Treatment ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Spinal Muscular Atrophy Type

Clinical factors as predictors of survival in spinal muscular atrophy type I

2008 ◽  
Vol 18 ◽  
pp. S43-S47 ◽  
Author(s):  
Adele D'Amico ◽  
Marina Cuttini ◽  
Lucilla Ravà ◽  
Eugenio Mercuri ◽  
Sonia Messina ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Type I ◽  
Clinical Factors ◽  
Spinal Muscular Atrophy Type
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