Lunn, M. R., & Wang, C. H. (2008). Spinal muscular atrophy. Lancet, 371(9630), 2120–2133.
Vill, K., Schwartz, O., Blaschek, A., et al. (2021). Newborn screening for spinal muscular atrophy in Germany: Clinical results after 2 years. Orphanet Journal of Rare Diseases, 16(1), 153.
Article PubMed PubMed Central Google Scholar
Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., et al. (2017). Nusinersen versus sham control in infantile-onset spinal muscular atrophy. New England Journal of Medicine, 377(18), 1723–1732.
Article CAS PubMed Google Scholar
Mendell, J. R., Al-Zaidy, S., Shell, R., Arnold, W. D., Rodino-Klapac, L. R., Prior, T. W., et al. (2017). Single-dose gene-replacement therapy for spinal muscular atrophy. New England Journal of Medicine, 377(18), 1713–1722.
Article CAS PubMed Google Scholar
Baranello, G., Darras, B. T., Day, J. W., Deconinck, N., Klein, A., Masson, R., et al. (2021). Risdiplam in Type 1 spinal muscular atrophy. New England Journal of Medicine, 384(10), 915–923.
Article CAS PubMed Google Scholar
Munsat, T. L., & Davies, K. E. (1992). International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscular Disorders, 2(5–6), 423–428.
Article CAS PubMed Google Scholar
Sansone, V. A., Walter, M. C., Attarian, S., Delstanche, S., Mercuri, E., Lochmüller, H., et al. (2020). Measuring outcomes in adults with spinal muscular atrophy - challenges and future directions - meeting report. Journal of Neuromuscular Diseases, 7(4), 523–534.
Article CAS PubMed Google Scholar
Mercuri, E., Finkel, R. S., Muntoni, F., Wirth, B., Montes, J., Main, M., et al. (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders, 28(2), 103–115.
Finkel, R. S., Mercuri, E., Meyer, O. H., Simonds, A. K., Schroth, M. K., Graham, R. J., et al. (2018). Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders, 28(3), 197–207.
Leibrock, B., Landfeldt, E., Hussong, J., Huelle, T., Mattheus, H., Thiele, S., et al. (2023). Areas of improvement in the medical care of SMA: Evidence from a nationwide patient registry in Germany. Orphanet Journal of Rare Diseases, 18(1), 32.
Article PubMed PubMed Central Google Scholar
Ravens-Sieberer, U., Erhart, M., Wille, N., Wetzel, R., Nickel, J., & Bullinger, M. (2006). Generic health-related quality-of-life assessment in children and adolescents: Methodological considerations. PharmacoEconomics, 24(12), 1199–1220.
Spieth, L. E., & Harris, C. V. (1996). Assessment of health-related quality of life in children and adolescents: An integrative review. Journal of Pediatric Psychology, 21(2), 175–193.
Article CAS PubMed Google Scholar
Landfeldt, E., Pechmann, A., McMillan, H. J., Lochmüller, H., & Sejersen, T. (2021). Costs of illness of spinal muscular atrophy: A systematic review. Applied Health Economics and Health Policy, 19(4), 501–520.
Article PubMed PubMed Central Google Scholar
Landfeldt, E., Edström, J., Sejersen, T., Tulinius, M., Lochmüller, H., & Kirschner, J. (2019). Quality of life of patients with spinal muscular atrophy: A systematic review. European Journal of Paediatric Neurology, 23(3), 347–356.
Landfeldt, E., Leibrock, B., Hussong, J., et al. (2024). Self-reported health-related quality of life of children with spinal muscular atrophy: Insights from a nationwide patient registry in Germany. Journal of Neuromuscular Diseases. 11(1), 117–128.
Article PubMed PubMed Central Google Scholar
Herdman, M., Gudex, C., Lloyd, A., Janssen, M. F., Kind, P., Parkin, D., et al. (2011). Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Quality of Life Research, 20, 1727–1736.
Article CAS PubMed PubMed Central Google Scholar
Horsman, J., Furlong, W., Feeny, D., & Torrance, G. (2003). The health utilities index (HUI): Concepts, measurement properties and applications. Health and Quality of Life Outcomes, 1, 54.
Article PubMed PubMed Central Google Scholar
Ware, J. E., & Sherbourne, C. D. (1992). The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Medical Care, 30, 473–483.
Ludwig, K., Graf von der Schulenburg, J. M., & Greiner, W. (2018). German Value Set for the EQ-5D-5L. PharmacoEconomics, 36(6), 663–674.
Article PubMed PubMed Central Google Scholar
Feeny, D. H., Furlong, W. J., Torrance, G. W., et al. (2002). Multi-attribute and single-attribute utility functions for the health utilities index mark 3 system. Medical Care, 40, 113–128.
Brazier, J., Roberts, J., & Deverill, M. (2002). The estimation of a preference-based measure of health from the SF-36. Journal of Health Economics, 21(2), 271–292.
Uchio, Y., Kajima, K., Suzuki, H., Nakamura, K., Saito, M., & Ikai, T. (2022). Pain in spinal muscular atrophy: a questionnaire study. Physical Therapy Research, 25(3), 150–155.
Article PubMed PubMed Central Google Scholar
Yao, M., Xia, Y., Feng, Y., Ma, Y., Hong, Y., Zhang, Y., et al. (2021). Anxiety and depression in school-age patients with spinal muscular atrophy: A cross-sectional study. Orphanet Journal of Rare Diseases, 16(1), 385.
Article PubMed PubMed Central Google Scholar
Mix, L., Winter, B., Wurster, C. D., Platen, S., Witzel, S., Uzelac, Z., Graf, H., Ludolph, A. C., & Lulé, D. (2021). Quality of life in SMA patients under treatment with nusinersen. Frontiers in Neurology, 29(12), 626787.
Grochtdreis, T., Dams, J., König, H. H., & Konnopka, A. (2019). Health-related quality of life measured with the EQ-5D-5L: Estimation of normative index values based on a representative German population sample and value set. The European Journal of Health Economics, 20(6), 933–944.
Henry, E. B., Barry, L. E., Hobbins, A. P., McClure, N. S., & O’Neill, C. (2020). Estimation of an instrument-defined minimally important difference in EQ-5D-5L index scores based on scoring algorithms derived using the EQ-VT version 2 valuation protocols. Value Health., 23(7), 936–944.
Eiser, C., & Morse, R. (2001). Quality-of-life measures in chronic diseases of childhood. Health Technology Assessment, 5(4), 1–157.
Article CAS PubMed Google Scholar
Pangalila, R. (2016). Quality of life in Duchenne muscular dystrophy: The disability paradox. Developmental Medicine and Child Neurology, 58(5), 435–436.
López-Bastida, J., Peña-Longobardo, L. M., Aranda-Reneo, I., Tizzano, E., Sefton, M., & Oliva-Moreno, J. (2017). Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet Journal of Rare Diseases, 12(1), 141.
Article PubMed PubMed Central Google Scholar
Landfeldt, E. (2023). Measuring health-related quality of life in duchenne muscular dystrophy: Current perspectives and recommendations. Journal of the Neurological Sciences, 15(446), 120545.
Xu, R. H., Ma, B., Xin, H., Zhang, H., Zeng, Y., Luo, N., & Dong, D. (2023). Measurement properties of the EQ-5D-5L and PROPr in patients with spinal muscular atrophy. Health and Quality of Life Outcomes, 21(1), 123.
Article PubMed PubMed Central Google Scholar
Wohnrade, C., Velling, A. K., Mix, L., Wurster, C. D., Cordts, I., Stolte, B., et al. (2023). Health-related quality of life in spinal muscular atrophy patients and their caregivers-a prospective, cross-sectional, multi-center analysis. Brain Sciences, 13(1), 110.
Article PubMed PubMed Central Google Scholar
McMillan, H. J., Gerber, B., Cowling, T., Khuu, W., Mayer, M., Wu, J. W., et al. (2021). Burden of spinal muscular atrophy (SMA) on patients and caregivers in Canada. J Neuromuscul Dis., 8(4), 553–568.
Article CAS PubMed PubMed Central Google Scholar
Health Utilities Inc (HUInc). HUI Mark2 and Mark3 Reference Population Data. Available from: http://www.healthutilities.com/ (Accessed July 15, 2023).
Belter, L., Cruz, R., & Jarecki, J. (2020). Quality of life data for individuals affected by spinal muscular atrophy: A baseline dataset from the cure SMA community update survey. Orphanet Journal of Rare Diseases, 15(1), 217.
Article PubMed PubMed Central Google Scholar
Dangouloff, T., Hiligsmann, M., Deconinck, N., D’Amico, A., Seferian, A. M., Boemer, F., & Servais, L. (2023). Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening. Developmental Medicine and Child Neurology, 65(1), 67–77.
Ellert, U., & Kurth, B. M. (2013). Health-related quality of life in adults in Germany. Bundesgesundheitsbl, 56, 643–649.
van den Berg, B. (2012). Sf-6d population norms. Health Economics, 21(12), 1508–1512.
留言 (0)