Disease burden of spinal muscular atrophy in Germany

Orphanet Journal of Rare Diseases

Volumn 11, Issue 1, 2016, Pages

  Klug, Constanze ^a   Schreiber Katz, Olivia ^b   Thiele, Simone ^c   Schorling, Elisabeth ^a   Zowe, Janet ^a   Reilich, Peter ^c   Walter, Maggie C ^c   Nagels, Klaus H ^a  

^a UNIVERSITY OF BAYREUTH   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

Cost of illness (COI); Direct cost; Health care burden; Health services research; Health related quality of life (HRQOL); Indirect cost; Informal care cost; Neuromuscular disease; Spinal muscular atrophy (SMA)

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CAREGIVER; CHILD; COST OF ILLNESS; CROSS-SECTIONAL STUDY; FEMALE; GERMANY; HEALTH CARE UTILIZATION; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; PEDIATRIC QUALITY OF LIFE INVENTORY; QUALITY OF LIFE; QUALITY OF LIFE ASSESSMENT; SPINAL MUSCULAR ATROPHY; ECONOMICS; HEALTH CARE COST; MIDDLE AGED; PRESCHOOL CHILD; QUESTIONNAIRE; STATISTICS AND NUMERICAL DATA; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COST OF ILLNESS; CROSS-SECTIONAL STUDIES; FEMALE; GERMANY; HEALTH CARE COSTS; HUMANS; INFANT; MALE; MIDDLE AGED; MUSCULAR ATROPHY, SPINAL; QUALITY OF LIFE; SURVEYS AND QUESTIONNAIRES; YOUNG ADULT;

EID: 84969555921     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-016-0424-0     Document Type: Article

References (38)

1. Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015;33(4):831-46. doi: 10.1016/j.ncl.2015.07.004.
2. Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015;62(3):743-66. doi: 10.1016/j.pcl.2015.03.010.
3. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155-65.
4. D'Amico A, Mercuri E, Tiziano FD, Bertini E. Spinal muscular atrophy. Orphanet J Rare Dis. 2011;6(1):71. doi: 10.1186/1750-1172-6-71.
5. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-49. doi: 10.1177/0883073807305788.
6. Schreiber-Katz O, Klug C, Thiele S, Schorling E, Zowe J, Reilich P, et al. Comparative cost of illness analysis and assessment of health care burden of Duchenne and Becker muscular dystrophies in Germany. Orphanet J Rare Dis. 2014;9:210. doi: 10.1186/s13023-014-0210-9.
7. Varni JW, Seid M, Kurtin PS. PedsQL 4.0: reliability and validity of the Pediatric Quality of Life Inventory version 4.0 generic core scales in healthy and patient populations. Med Care. 2001;39(8):800-12.
8. Davis SE, Hynan LS, Limbers CA, Andersen CM, Greene MC, Varni JW, et al. The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales. J Clin Neuromuscul Dis. 2010;11(3):97-109. doi: 10.1097/CND.0b013e3181c5053b.
9. Iannaccone ST. American Spinal Muscular Atrophy Randomized Trials G. Outcome measures for pediatric spinal muscular atrophy. Arch Neurocir. 2002;59(9):1445-50.
10. Iannaccone ST, Hynan LS. American Spinal Muscular Atrophy Randomized Trials G. Reliability of 4 outcome measures in pediatric spinal muscular atrophy. Arch Neurocir. 2003;60(8):1130-6. doi: 10.1001/archneur.60.8.1130.
11. Iannaccone ST, Hynan LS, Morton A, Buchanan R, Limbers CA, Varni JW, et al. The PedsQL in pediatric patients with Spinal Muscular Atrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Generic Core Scales and Neuromuscular Module. Neuromuscul Disord. 2009;19(12):805-12. doi: 10.1016/j.nmd.2009.09.009.
12. Bladen CL, Thompson R, Jackson JM, Garland C, Wegel C, Ambrosini A et al. Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. Journal of neurology. 2013. doi: 10.1007/s00415-013-7154-1.
13. Greiner W, Damm O. Die Berechnung von Kosten und Nutzen. In: Schöffski O GvdSJ-M, editor. Gesundheitsökonomische Evaluation. Berlin: Springer; 2012. p. 23-42.
14. Bock JO, Brettschneider C, Seidl H, Bowles D, Holle R, Greiner W, et al. Calculation of standardised unit costs from a societal perspective for health economic evaluation. Gesundheitsw. 2015;77(1):53-61. doi: 10.1055/s-0034-1374621.
15. Krauth C, Hessel F, Hansmeier T, Wasem J, Seitz R, Schweikert B. Empirical standard costs for health economic evaluation in Germany - a proposal by the working group methods in health economic evaluation. Gesundheitsw. 2005;67(10):736-46. doi: 10.1055/s-2005-858698.
16. Lauer-Fischer. Die LAUER-Taxe 2013. Fürth: CGM CompuGroupMedical; 2013.
17. Sozialleistungen. Angaben zur Krankenversicherung. Wiesbaden: Statistisches Bundesamt; 2012.
18. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132(Pt 11):3175-86. doi: 10.1093/brain/awp236.
19. The Federal Health Monitoring System: Health expenditures in Germany as share of GDP and in millions of Euro (absolute and per inhabitant). 2015. https://www.destatis.de/DE/Publikationen/Thematisch/Gesundheit/Gesundheitsausgaben/AusgabenGesundheitPDF-2120711.pdf?--blob=publicationFile. Accessed 30 Sep 2015.
20. von Gontard A, Rudnik-Schoneborn S, Zerres K. Stress and coping in parents of children and adolescents with spinal muscular atrophy. Klin Padiatr. 2012;224(4):247-51. doi: 10.1055/s-0032-1304577.
21. Larkindale J, Yang W, Hogan PF, Simon CJ, Zhang Y, Jain A, et al. Cost of illness for neuromuscular diseases in the United States. Muscle Nerve. 2014;49(3):431-8. doi: 10.1002/mus.23942.
22. MDA. Cost of Amyotrophic Lateral Sclerosis, Muscular Dystrophy, and Spinal Muscular Atrophy in the United States - Final Report. Muscular Dystrophy Association, The Lewin Group Inc. 2012. http://www.mda.org/sites/default/files/Cost-Illness-Report.pdf. Accessed 03.08.2015.
23. Reinhold T, Brüggenjürgen, Bernd, Schlander, Michael, Rosenfeld, Stephanie, Hessel, Franz, Willich, Stefan N. Economic analysis based on multinational studies: methods for adapting findings to national contexts. J Public Health. 2010;18(4):327-35. http://dx.doi.org/10.1007/s10389-010-0315-0.
24. Zerres K, Davies KE. 59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. Neuromuscul Disord. 1999;9(4):272-8.
25. Cobben JM, Lemmink HH, Snoeck I, Barth PA, van der Lee JH, de Visser M. Survival in SMA type I: a prospective analysis of 34 consecutive cases. Neuromuscul Disord. 2008;18(7):541-4. doi: 10.1016/j.nmd.2008.05.008.
26. Landfeldt E, Lindgren P, Bell CF, Schmitt C, Guglieri M, Straub V, et al. The burden of Duchenne muscular dystrophy: An international, cross-sectional study. Neurol. 2014;83(6):529-36. doi: 10.1212/WNL.0000000000000669.
27. Black N. Patient reported outcome measures could help transform healthcare. BMJ. 2013;346:f167. doi: 10.1136/bmj.f167.
28. Guyatt GH, Ferrans CE, Halyard MY, Revicki DA, Symonds TL, Varricchio CG, et al. Exploration of the value of health-related quality-of-life information from clinical research and into clinical practice. Mayo Clin Proc. 2007;82(10):1229-39.
29. Varni JW, Burwinkle TM, Lane MM. Health-related quality of life measurement in pediatric clinical practice: an appraisal and precept for future research and application. Health Qual Life Outcomes. 2005;3:34. doi: 10.1186/1477-7525-3-34.
30. Varni JW, Limbers CA, Burwinkle TM. Impaired health-related quality of life in children and adolescents with chronic conditions: a comparative analysis of 10 disease clusters and 33 disease categories/severities utilizing the PedsQL 4.0 Generic Core Scales. Health Qual Life Outcomes. 2007;5:43. doi: 10.1186/1477-7525-5-43.
31. Kaufmann P, McDermott MP, Darras BT, Finkel RS, Sproule DM, Kang PB, et al. Prospective cohort study of spinal muscular atrophy types 2 and 3. Neurol. 2012;79(18):1889-97. doi: 10.1212/WNL.0b013e318271f7e4.
32. de Oliveira CM, Araujo AP. Self-reported quality of life has no correlation with functional status in children and adolescents with spinal muscular atrophy. Eur J Paediatr Neurol. 2011;15(1):36-9. doi: 10.1016/j.ejpn.2010.07.003.
33. Kocova H, Dvorackova O, Vondracek P, Haberlova J. Health-related quality of life in children and adolescents with spinal muscular atrophy in the Czech Republic. Pediatr Neurol. 2014;50(6):591-4. doi: 10.1016/j.pediatrneurol.2014.01.037.
34. Faravelli I, Nizzardo M, Comi GP, Corti S. Spinal muscular atrophy - recent therapeutic advances for an old challenge. Nat Rev Neurol. 2015;11(6):351-9. doi: 10.1038/nrneurol.2015.77.
35. Wertz MH, Sahin M. Developing therapies for spinal muscular atrophy. Ann N Y Acad Sci. 2015. doi: 10.1111/nyas.12813.
36. Glossar P-Q. Pflegestufen. Bundesministerium für Gesundheit. 2015. http://www.bmg.bund.de/themen/pflege/pflegebeduerftigkeit/pflegestufen.html. Accessed 29 Jan 2016.
37. Bevölkerung auf Grundlage des Zensus 2011. Statistisches Bundesamt. https://www.destatis.de/DE/ZahlenFakten/GesellschaftStaat/Bevoelkerung/Bevoelkerungsstand/Tabellen/Zensus-Geschlecht-Staatsangehoerigkeit.html. Accessed 18 Aug 2015.
38. Pflegeleistungen ab 1. Januar 2015. Bundesministerium für Gesundheit. 2015. http://www.bmg.bund.de/fileadmin/dateien/Downloads/P/Pflegestaerkungsgesetze/Tabellen-Plegeleistungen-BRat-071114.pdf. Accessed 27. Jan. 2016.