In this prospective study involving 37 Duchenne muscular dystrophy (DMD) patients aged 8-18 years and older, we examined the impact of neurological and cardiac factors on quality of life (QoL). Our findings revealed a negative correlation between upper limb movement and overall mobility, self-service, and usual activities. Ambulatory and non-ambulatory DMD patients showed significant differences in mobility-related parameters. Cardiac evaluations demonstrated associations between mitral annular plane systolic excursion (MAPSE) and mobility-related aspects. The PEDSQL 3.0 neuromuscular model questionnaire further highlighted age-related and movement-related correlations with QoL. The loss of ambulatory status and reduced upper limb movement were negatively associated with QoL, while upper limb movement positively correlated with septal MAPSE. However, no significant associations were found between MAPSE and anxiety/depression. These findings underscore the multifaceted impact of DMD on QoL and emphasize the importance of considering both neurological and cardiac factors in comprehensive patient care.

1st Department of Internal Medicine Cardio angiology Faculty of Medicine St Anne's University Hospital Brno Czechia

Centre for Clinical Neurosciences Faculty of Medicine University Ostrava Ostrava Czechia

Department of Biology Faculty of Medicine Masaryk University Brno Czechia

Department of Biomedical Engineering University of Technology Brno Czechia

Department of Medical Imaging St Anne's University Hospital Brno Czechia

Department of Neurology Faculty of Medicine University Hospital Brno Masaryk University Brno Czechia

Department of Neurology University Hospital Ostrava Brno Czechia

Department of Paediatric Neurology 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Czechia

Department of Paediatric Neurology Faculty of Medicine of Masaryk University University Hospital Brno Brno Czechia

International Clinical Research Center St Anne's University Hospital Faculty of Medicine Masaryk University Brno Czechia

Zobrazit více v PubMed

Stark AE. Determinants of the incidence of Duchenne muscular dystrophy. Ann Transl Med. (2015) 3:287. doi: 10.3978/j.issn.2305-5839.2015.10.45, PMID: PubMed DOI PMC

Wong SH, McClaren BJ, Archibald AD, Weeks A, Langmaid T, Ryan MM, et al. . A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. Eur J Hum Genet EJHG. (2015) 23:1294–300. doi: 10.1038/ejhg.2014.301, PMID: PubMed DOI PMC

Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. . Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. (2018) 17:251–67. doi: 10.1016/S1474-4422(18)30024-3, PMID: PubMed DOI PMC

Eagle M, Baudouin SV, Chandler C, Giddings DR, Bullock R, Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord NMD. (2002) 12:926–9. doi: 10.1016/S0960-8966(02)00140-2, PMID: PubMed DOI

Passamano L, Taglia A, Palladino A, Viggiano E, D’Ambrosio P, Scutifero M, et al. . Improvement of survival in Duchenne muscular dystrophy: retrospective analysis of 835 patients. Acta Myol. (2012) 31:121–5. PubMed PMC

Landfeldt E, Thompson R, Sejersen T, McMillan HJ, Kirschner J, Lochmüller H. Life expectancy at birth in Duchenne muscular dystrophy: a systematic review and meta-analysis. Eur J Epidemiol. (2020) 35:643–53. doi: 10.1007/s10654-020-00613-8, PMID: PubMed DOI PMC

Baiardini I, Minetti C, Bonifacino S, Porcu A, Klersy C, Petralia P, et al. . Quality of life in Duchenne muscular dystrophy: the subjective impact on children and parents. J Child Neurol. (2011) 26:707–13. doi: 10.1177/0883073810389043, PMID: PubMed DOI

Witte RA. The psychosocial impact of a progressive physical handicap and terminal illness (Duchenne muscular dystrophy) on adolescents and their families. Br J Med Psychol. (1985) 58:179–87. doi: 10.1111/j.2044-8341.1985.tb02632.x, PMID: PubMed DOI

Gagliardi BA. The impact of Duchenne muscular dystrophy on families. Orthop Nurs. (1991) 10:41–9. doi: 10.1097/00006416-199109000-00009 PubMed DOI

Grootenhuis MA, de Boone J, van der Kooi AJ. Living with muscular dystrophy: health related quality of life consequences for children and adults. Health Qual Life Outcomes. (2007) 5:31. doi: 10.1186/1477-7525-5-31, PMID: PubMed DOI PMC

Bray P, Bundy AC, Ryan MM, North KN, Everett A. Health-related quality of life in boys with Duchenne muscular dystrophy: agreement between parents and their sons. J Child Neurol. (2010) 25:1188–94. doi: 10.1177/0883073809357624, PMID: PubMed DOI

Vahedi S. World Health Organization quality-of-life scale (WHOQOL-BREF): analyses of their item response theory properties based on the graded responses model. Iran J Psychiatry. (2010) 5:140–53. PubMed PMC

Zamani G, Heidari M, Azizi Malamiri R, Ashrafi MR, Mohammadi M, Shervin Badv R, et al. . The quality of life in boys with Duchenne muscular dystrophy. Neuromuscul Disord NMD. (2016) 26:423–7. doi: 10.1016/j.nmd.2016.05.004 PubMed DOI

Elsenbruch S, Schmid J, Lutz S, Geers B, Schara U. Self-reported quality of life and depressive symptoms in children, adolescents, and adults with Duchenne muscular dystrophy: a cross-sectional survey study. Neuropediatrics. (2013) 44:257–64. doi: 10.1055/s-0033-1347935, PMID: PubMed DOI

Bendixen RM, Senesac C, Lott DJ, Vandenborne K. Participation and quality of life in children with Duchenne muscular dystrophy using the international classification of functioning, disability, and health. Health Qual Life Outcomes. (2012) 10:43. doi: 10.1186/1477-7525-10-43, PMID: PubMed DOI PMC

Riley AW. Evidence that school-age children can self-report on their health. Ambul Pediatr. (2004) 4:371–6. doi: 10.1367/A03-178R.1 PubMed DOI

Raat H, Bonsel GJ, Essink-Bot ML, Landgraf JM, Gemke RJBJ. Reliability and validity of comprehensive health status measures in children: the child health questionnaire in relation to the health utilities index. J Clin Epidemiol. (2002) 55:67–76. doi: 10.1016/S0895-4356(01)00411-5 PubMed DOI

Ravens-Sieberer U, Gosch A, Abel T, Auquier P, Bellach BM, Bruil J, et al. . Quality of life in children and adolescents: a European public health perspective. Soz Praventivmed. (2001) 46:294–302. doi: 10.1007/BF01321080 PubMed DOI

McPhail S, Beller E, Haines T. Two perspectives of proxy reporting of health-related quality of life using the Euroqol-5D, an investigation of agreement. Med Care. (2008) 46:1140–8. doi: 10.1097/MLR.0b013e31817d69a6, PMID: PubMed DOI

Marques JCB, Oliveira JA, Goulardins JB, Nascimento RO, Lima AMV, Casella EB. Comparison of child self-reports and parent proxy-reports on quality of life of children with attention deficit hyperactivity disorder. Health Qual Life Outcomes. (2013) 11:186. doi: 10.1186/1477-7525-11-186, PMID: PubMed DOI PMC

Grimaldi Capitello T, Fiorilli C, Placidi S, Vallone R, Drago F, Gentile S. What factors influence parents’ perception of the quality of life of children and adolescents with neurocardiogenic syncope? Health Qual Life Outcomes. (2016) 14:79. doi: 10.1186/s12955-016-0476-9 PubMed DOI PMC

Nolan LB. An exploration of proxy- and self-reported adolescent health in low-resource settings. Surv Res Methods. (2016) 10:65–83. doi: 10.18148/srm/2016.v10i2.6711 DOI

Connolly MA, Johnson JA. Measuring quality of life in paediatric patients. PharmacoEconomics. (1999) 16:605–25. doi: 10.2165/00019053-199916060-00002 PubMed DOI

Hullmann SE, Ryan JL, Ramsey RR, Chaney JM, Mullins LL. Measures of general pediatric quality of life: child health questionnaire (CHQ), DISABKIDS chronic generic measure (DCGM), KINDL-R, pediatric quality of life inventory (PedsQL) 4.0 generic Core scales, and quality of my life questionnaire (QoML). Arthritis Care Res. (2011) 63:S420–30. doi: 10.1002/acr.20637 PubMed DOI

Vincent KA, Carr AJ, Walburn J, Scott DL, Rose MR. Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL). Neurology. (2007) 68:1051–7. doi: 10.1212/01.wnl.0000257819.47628.41, PMID: PubMed DOI

Crossnohere NL, Fischer R, Lloyd A, Prosser LA, Bridges JFP. Assessing the appropriateness of the EQ-5D for Duchenne muscular dystrophy: a patient-centered study. Med Decis Mak Int J Soc Med Decis Mak. (2021) 41:209–21. doi: 10.1177/0272989X20978390, PMID: PubMed DOI

Kohler M, Clarenbach CF, Böni L, Brack T, Russi EW, Bloch KE. Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy. Am J Respir Crit Care Med. (2005) 172:1032–6. doi: 10.1164/rccm.200503-322OC, PMID: PubMed DOI

Wiwaha G, Sari DM, Biben V, Sunjaya DK, Hilmanto D. Translation and validation of Indonesian version of pediatric quality of life inventory™ (PedsQL™) neuromuscular module. Health Qual Life Outcomes. (2022) 20:33. doi: 10.1186/s12955-022-01933-x, PMID: PubMed DOI PMC

Landfeldt E, Lindgren P, Bell CF, Guglieri M, Straub V, Lochmüller H, et al. . Health-related quality of life in patients with Duchenne muscular dystrophy: a multinational, cross-sectional study. Dev Med Child Neurol. (2016) 58:508–15. doi: 10.1111/dmcn.12938, PMID: PubMed DOI PMC

Devlin N, Parkin D, Janssen B. Methods for Analysing and reporting EQ-5D data. Cham: Springer Nature; (2020). PubMed

Obradovic M, Lal A, Liedgens H. Validity and responsiveness of EuroQol-5 dimension (EQ-5D) versus short Form-6 dimension (SF-6D) questionnaire in chronic pain. Health Qual Life Outcomes. (2013) 11:110. doi: 10.1186/1477-7525-11-110, PMID: PubMed DOI PMC

Panovský R, Pešl M, Holeček T, Máchal J, Feitová V, Mrázová L, et al. . Cardiac profile of the Czech population of Duchenne muscular dystrophy patients: a cardiovascular magnetic resonance study with T1 mapping. Orphanet J Rare Dis. (2019) 14:10. doi: 10.1186/s13023-018-0986-0, PMID: PubMed DOI PMC

Schulz-Menger J, Bluemke DA, Bremerich J, Flamm SD, Fogel MA, Friedrich MG, et al. . Standardized image interpretation and post processing in cardiovascular magnetic resonance: Society for Cardiovascular Magnetic Resonance (SCMR) board of trustees task force on standardized post processing. J Cardiovasc Magn Reson. (2013) 15:35. doi: 10.1186/1532-429X-15-35 PubMed DOI PMC

Puchalski MD, Williams RV, Askovich B, Sower CT, Hor KH, Su JT, et al. . Late gadolinium enhancement: precursor to cardiomyopathy in Duchenne muscular dystrophy? Int J Cardiovasc Imaging. (2009) 25:57–63. doi: 10.1007/s10554-008-9352-y, PMID: PubMed DOI PMC

Florian A, Ludwig A, Engelen M, Waltenberger J, Rösch S, Sechtem U, et al. . Left ventricular systolic function and the pattern of late-gadolinium-enhancement independently and additively predict adverse cardiac events in muscular dystrophy patients. J Cardiovasc Magn Reson. (2014) 16:81. doi: 10.1186/s12968-014-0081-1, PMID: PubMed DOI PMC

Prion SK, Haerling KA. Making sense of methods and measurement: spearman-rho ranked-order correlation coefficient. Clin Simul Nurs. (2014) 10:535–6. doi: 10.1016/j.ecns.2014.07.005 DOI

Wei Y, Speechley KN, Zou G, Campbell C. Factors associated with health-related quality of life in children with Duchenne muscular dystrophy. J Child Neurol. (2016) 31:879–86. doi: 10.1177/0883073815627879, PMID: PubMed DOI

Houwen-van Opstal SLS, Jansen M, van Alfen N, de Groot IJM. Health-related quality of life and its relation to disease severity in boys with Duchenne muscular dystrophy: satisfied boys, worrying parents--a case-control study. J Child Neurol. (2014) 29:1486–95. doi: 10.1177/0883073813506490, PMID: PubMed DOI

Uzark K, King E, Cripe L, Spicer R, Sage J, Kinnett K, et al. . Health-related quality of life in children and adolescents with Duchenne muscular dystrophy. Pediatrics. (2012) 130:e1559–66. doi: 10.1542/peds.2012-0858 PubMed DOI

Liang R, Chan SHS, Ho FKW, Tang OC, Cherk SWW, Ip P, et al. . Health-related quality of life in Chinese boys with Duchenne muscular dystrophy and their families. J Child Health Care. (2019) 23:495–506. doi: 10.1177/1367493519857423, PMID: PubMed DOI

Uttley L, Carlton J, Woods HB, Brazier J. A review of quality of life themes in Duchenne muscular dystrophy for patients and carers. Health Qual Life Outcomes. (2018) 16:237. doi: 10.1186/s12955-018-1062-0, PMID: PubMed DOI PMC

Lue YJ, Chen SS, Lu YM. Quality of life of patients with Duchenne muscular dystrophy: from adolescence to young men. Disabil Rehabil. (2017) 39:1408–13. doi: 10.1080/09638288.2016.1196398, PMID: PubMed DOI

Bann CM, Abresch RT, Biesecker B, Conway KC, Heatwole C, Peay H, et al. . Measuring quality of life in muscular dystrophy. Neurology. (2015) 84:1034–42. doi: 10.1212/WNL.0000000000001336, PMID: PubMed DOI PMC

Straub V, Mercuri E. Report on the workshop: meaningful outcome measures for Duchenne muscular dystrophy, London, UK, 30-31 January 2017. Neuromuscul Disord NMD. (2018) 28:690–701. doi: 10.1016/j.nmd.2018.05.013, PMID: PubMed DOI

Mokkink LB, Terwee CB, Patrick DL, Alonso J, Stratford PW, Knol DL, et al. . The COSMIN checklist for assessing the methodological quality of studies on measurement properties of health status measurement instruments: an international Delphi study. Qual Life Res Int J Qual Life Asp Treat Care Rehabil. (2010) 19:539–49. doi: 10.1007/s11136-010-9606-8, PMID: PubMed DOI PMC

Powell PA, Carlton J, Rowen D, Chandler F, Guglieri M, Brazier JE. Development of a new quality of life measure for Duchenne muscular dystrophy using mixed methods: the DMD-QoL. Neurology. (2021) 96:e2438–50. doi: 10.1212/WNL.0000000000011896, PMID: PubMed DOI PMC

Rowen D, Powell P, Mukuria C, Carlton J, Norman R, Brazier J. Deriving a preference-based measure for people with Duchenne muscular dystrophy from the DMD-QoL. Value Health J Int Soc Pharmacoeconomics Outcomes Res. (2021) 24:1499–510. doi: 10.1016/j.jval.2021.03.007, PMID: PubMed DOI

Panovský R, Pešl M, Máchal J, Holeček T, Feitová V, Juříková L, et al. . Quantitative assessment of left ventricular longitudinal function and myocardial deformation in Duchenne muscular dystrophy patients. Orphanet J Rare Dis. (2021) 16:57. doi: 10.1186/s13023-021-01704-9, PMID: PubMed DOI PMC

Porcher R, Desguerre I, Amthor H, Chabrol B, Audic F, Rivier F, et al. . Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data. Eur Heart J. (2021) 42:1976–84. doi: 10.1093/eurheartj/ehab054, PMID: PubMed DOI

Hendriksen JGM, Poysky JT, Schrans DGM, Schouten EGW, Aldenkamp AP, Vles JSH. Psychosocial adjustment in males with Duchenne muscular dystrophy: psychometric properties and clinical utility of a parent-report questionnaire. J Pediatr Psychol. (2009) 34:69–78. doi: 10.1093/jpepsy/jsn067, PMID: PubMed DOI

Lamb MM, West NA, Ouyang L, Yang M, Weitzenkamp D, James K, et al. . Corticosteroid treatment and growth patterns in ambulatory males with Duchenne muscular dystrophy. J Pediatr. (2016) 173:207–213.e3. doi: 10.1016/j.jpeds.2016.02.067, PMID: PubMed DOI PMC

Pangalila RF, van den Bos GA, Bartels B, Bergen M, Stam HJ, Roebroeck ME. Prevalence of fatigue, pain, and affective disorders in adults with duchenne muscular dystrophy and their associations with quality of life. Arch Phys Med Rehabil. (2015) 96:1242–7. doi: 10.1016/j.apmr.2015.02.012, PMID: PubMed DOI

Hunt A, Carter B, Abbott J, Parker A, Spinty S, deGoede C. Pain experience, expression and coping in boys and young men with Duchenne muscular dystrophy - a pilot study using mixed methods. Eur J Paediatr Neurol EJPN. (2016) 20:630–8. doi: 10.1016/j.ejpn.2016.03.002, PMID: PubMed DOI

Pangalila RF, van den Bos GAM, Bartels B, Bergen MP, Kampelmacher MJ, Stam HJ, et al. . Quality of life of adult men with Duchenne muscular dystrophy in the Netherlands: implications for care. J Rehabil Med. (2015) 47:161–6. doi: 10.2340/16501977-1898, PMID: PubMed DOI

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) 11:97–109. doi: 10.1097/CND.0b013e3181c5053b, PMID: PubMed DOI

Cavazza M, Kodra Y, Armeni P, De Santis M, López-Bastida J, Linertová R, et al. . Social/economic costs and health-related quality of life in patients with Duchenne muscular dystrophy in Europe. Eur J Health Econ HEPAC. (2016) 17:19–29. doi: 10.1007/s10198-016-0782-5, PMID: PubMed DOI

Steffensen B, Otto C, Werlauff U, Rahbek J, Hoejberg A, Kirschner J, et al. . G.P.388 - health related quality of life in European adults with DMD: results from the care-NMD-project. Neuromuscul Disord. (2015) 25:S302. doi: 10.1016/j.nmd.2015.06.412 DOI

Thomas PT, Rajaram P, Nalini A. Psychosocial challenges in family caregiving with children suffering from Duchenne muscular dystrophy. Health Soc Work. (2014) 39:144–52. doi: 10.1093/hsw/hlu027, PMID: PubMed DOI