{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T21:16:53Z","timestamp":1793049413050,"version":"4.5.0"},"reference-count":88,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,7]],"date-time":"2023-01-07T00:00:00Z","timestamp":1673049600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Kompetenznetzwerk Baden-W\u00fcrttemberg \u201cPr\u00e4ventive Medizin\u201d","award":["ME 3696\/3-1"],"award-info":[{"award-number":["ME 3696\/3-1"]}]},{"name":"Kompetenznetzwerk Baden-W\u00fcrttemberg \u201cPr\u00e4ventive Medizin\u201d","award":["Sc 23\/1"],"award-info":[{"award-number":["Sc 23\/1"]}]},{"name":"German Research Foundation","award":["ME 3696\/3-1"],"award-info":[{"award-number":["ME 3696\/3-1"]}]},{"name":"German Research Foundation","award":["Sc 23\/1"],"award-info":[{"award-number":["Sc 23\/1"]}]},{"name":"Hannover Medical School Young Faculty Program","award":["ME 3696\/3-1"],"award-info":[{"award-number":["ME 3696\/3-1"]}]},{"name":"Hannover Medical School Young Faculty Program","award":["Sc 23\/1"],"award-info":[{"award-number":["Sc 23\/1"]}]},{"name":"German Neuromuscular Society \u201cDeutsche Gesellschaft fuer Muskelkranke\u201d (DGM e.V.)","award":["ME 3696\/3-1"],"award-info":[{"award-number":["ME 3696\/3-1"]}]},{"name":"German Neuromuscular Society \u201cDeutsche Gesellschaft fuer Muskelkranke\u201d (DGM e.V.)","award":["Sc 23\/1"],"award-info":[{"award-number":["Sc 23\/1"]}]},{"name":"\u201cEllen-Schmidt-Program\u2014Habilitationsfoerderung fuer Wissenschaftlerinnen\u201d, Hannover Medical School","award":["ME 3696\/3-1"],"award-info":[{"award-number":["ME 3696\/3-1"]}]},{"name":"\u201cEllen-Schmidt-Program\u2014Habilitationsfoerderung fuer Wissenschaftlerinnen\u201d, Hannover Medical School","award":["Sc 23\/1"],"award-info":[{"award-number":["Sc 23\/1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a disabling disease that affects not only the patient\u2019s health-related quality of life (HRQoL), but also causes a high caregiver burden (CGB). The aim of this study was to evaluate HRQoL, CGB, and their predictors in SMA. In two prospective, cross-sectional, and multi-center studies, SMA patients (n = 39) and SMA patient\/caregiver couples (n = 49) filled in the EuroQoL Five Dimension Five Level Scale (EQ-5D-5L) and the Short Form Health Survey 36 (SF-36). Caregivers (CGs) additionally answered the Zarit Burden Interview (ZBI) and the Hospital Anxiety and Depression Scale (HADS). Patients were clustered into two groups with either low or high HRQoL (EQ-5D-5L index value &lt;0.259 or &gt;0.679). The latter group was mostly composed of ambulatory type III patients with higher motor\/functional scores. More severely affected patients reported low physical functioning but good mental health and vitality. The CGB (mean ZBI = 22\/88) correlated negatively with patients\u2019 motor\/functional scores and age. Higher CGB was associated with a lower HRQoL, higher depression and anxiety, and more health impairments of the CGs. We conclude that patient and CG well-being levels interact closely, which highlights the need to consider the health of both parties while evaluating novel treatments.<\/jats:p>","DOI":"10.3390\/brainsci13010110","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T01:36:17Z","timestamp":1673228177000},"page":"110","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers\u2014A Prospective, Cross-Sectional, Multi-Center Analysis"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3035-4638","authenticated-orcid":false,"given":"Camilla","family":"Wohnrade","sequence":"first","affiliation":[{"name":"Department of Neurology, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7113-9067","authenticated-orcid":false,"given":"Ann-Kathrin","family":"Velling","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hannover Medical School, 30625 Hannover, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucas","family":"Mix","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Ulm, 89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia D.","family":"Wurster","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Ulm, 89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabell","family":"Cordts","sequence":"additional","affiliation":[{"name":"Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2774-067X","authenticated-orcid":false,"given":"Benjamin","family":"Stolte","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center for Translational Neuro- and Behavioral Science, University Medicine Essen, 45147 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3393-5657","authenticated-orcid":false,"given":"Daniel","family":"Zeller","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Wuerzburg, 97080 Wuerzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zeljko","family":"Uzelac","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Ulm, 89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Platen","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Ulm, 89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3631-3450","authenticated-orcid":false,"given":"Tim","family":"Hagenacker","sequence":"additional","affiliation":[{"name":"Department of Neurology and Center for Translational Neuro- and Behavioral Science, University Medicine Essen, 45147 Essen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Deschauer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9362-7096","authenticated-orcid":false,"given":"Paul","family":"Lingor","sequence":"additional","affiliation":[{"name":"Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert C.","family":"Ludolph","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Ulm, 89081 Ulm, Germany"},{"name":"German Center for Neurodegenerative Diseases, 89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doroth\u00e9e","family":"Lul\u00e9","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Ulm, 89081 Ulm, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanne","family":"Petri","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hannover 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Characterization of a Spinal Muscular Atrophy-Determining Gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal Muscular Atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol. Clin."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1007\/s00415-008-0929-0","article-title":"A natural history study of late onset spinal muscular atrophy types 3b and 4","volume":"255","author":"Piepers","year":"2008","journal-title":"J. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1038\/sj.ejhg.5200210","article-title":"Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy","volume":"6","author":"Taylor","year":"1998","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1086\/338627","article-title":"Quantitative Analyses of SMN1 and SMN2 Based on Real-Time LightCycler PCR: Fast and Highly Reliable Carrier Testing and Prediction of Severity of Spinal Muscular Atrophy","volume":"70","author":"Schwarzer","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.nmd.2018.10.001","article-title":"The oral splicing modifier RG7800 increases full length survival of motor neuron 2 mRNA and survival of motor neuron protein: Results from trials in healthy adults and patients with spinal muscular atrophy","volume":"29","author":"Kletzl","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1007\/s00439-006-0156-7","article-title":"Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number","volume":"119","author":"Wirth","year":"2006","journal-title":"Hum. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1186\/s13023-016-0424-0","article-title":"Disease burden of spinal muscular atrophy in Germany","volume":"11","author":"Klug","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N. Engl. J. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1016\/S1474-4422(20)30037-5","article-title":"Nusinersen in adults with 5q spinal muscular atrophy: A non-interventional, multicentre, observational cohort study","volume":"19","author":"Hagenacker","year":"2020","journal-title":"Lancet Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"257","DOI":"10.3233\/JND-190453","article-title":"Prospective Cohort Study of Nusinersen Treatment in Adults with Spinal Muscular Atrophy","volume":"7","author":"Yeo","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"453","DOI":"10.3233\/JND-190416","article-title":"Safety and treatment effects of nusinersen in longstanding adult 5q-SMA type 3\u2013A prospective observational study","volume":"6","author":"Walter","year":"2019","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"626787","DOI":"10.3389\/fneur.2021.626787","article-title":"Quality of Life in SMA Patients Under Treatment With Nusinersen","volume":"12","author":"Mix","year":"2021","journal-title":"Front. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1007\/s00415-020-10227-5","article-title":"An observational cohort study on impact, dimensions and outcome of perceived fatigue in adult 5q-spinal muscular atrophy patients receiving nusinersen treatment","volume":"268","author":"Binz","year":"2021","journal-title":"J. Neurol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"523","DOI":"10.3233\/JND-200534","article-title":"Measuring Outcomes in Adults with Spinal Muscular Atrophy-Challenges and Future Directions-Meeting Report","volume":"7","author":"Sansone","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/s13023-020-1339-3","article-title":"Health, wellbeing and lived experiences of adults with SMA: A scoping systematic review","volume":"15","author":"Wan","year":"2020","journal-title":"Orphanet J. Rare Dis"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1080\/13548506.2018.1510131","article-title":"Caregiver burden and family functioning in different neurological diseases","volume":"24","author":"Tramonti","year":"2019","journal-title":"Psychol. Health Med."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1001\/jama.2014.304","article-title":"Caregiver burden: A clinical review","volume":"311","author":"Adelman","year":"2014","journal-title":"JAMA-J. Am. Med. Assoc."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1017\/S0033291706007124","article-title":"Predictors of psychological distress in carers of people with amyotrophic lateral sclerosis: A longitudinal study","volume":"36","author":"Goldstein","year":"2006","journal-title":"Psychol. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1007\/s11136-010-9804-4","article-title":"Predictors of quality of life in carers for people with a progressive neurological illness: A longitudinal study","volume":"20","author":"McCabe","year":"2011","journal-title":"Qual. Life Res."},{"key":"ref_22","doi-asserted-by":"crossref","unstructured":"Schischlevskij, P., Cordts, I., G\u00fcnther, R., Stolte, B., Zeller, D., Schr\u00f6ter, C., Weyen, U., Regensburger, M., Wolf, J., and Schneider, I. (2021). Informal caregiving in amyotrophic lateral sclerosis (Als): A high caregiver burden and drastic consequences on caregivers\u2019 lives. Brain Sci., 11.","DOI":"10.3390\/brainsci11060748"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1177\/0269216317709965","article-title":"Caregiver burden in amyotrophic lateral sclerosis: A systematic review","volume":"32","author":"Bakker","year":"2018","journal-title":"Palliat. Med."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1080\/21678421.2016.1241279","article-title":"Diagnostic and prognostic significance of neurofilament light chain NF-L, but not progranulin and S100B, in the course of amyotrophic lateral sclerosis: Data from the German MND-net","volume":"18","author":"Steinacker","year":"2017","journal-title":"Amyotroph. Lateral Scler. Front. Degener."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1495","DOI":"10.1016\/j.ijsu.2014.07.013","article-title":"The strengthening the reporting of observational studies in epidemiology (STROBE) statement: Guidelines for reporting observational studies","volume":"12","author":"Altman","year":"2014","journal-title":"Int. J. Surg."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.nmd.2005.11.010","article-title":"Reliability of the Hammersmith functional motor scale for spinal muscular atrophy in a multicentric study","volume":"16","author":"Mercuri","year":"2006","journal-title":"Neuromuscul. Disord."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1002\/mus.25430","article-title":"Revised upper limb module for spinal muscular atrophy: Development of a new module","volume":"55","author":"Mazzone","year":"2017","journal-title":"Muscle Nerve"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1016\/j.nmd.2008.07.003","article-title":"Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD\/ENMC Workshop on outcome measures, 12\u201313 May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30 June\u20131 July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France","volume":"18","author":"Mercuri","year":"2008","journal-title":"Neuromuscul. Disord."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1212\/01.wnl.0000257819.47628.41","article-title":"Construction and validation of a quality of life questionnaire for neuromuscular disease (INQoL)","volume":"68","author":"Vincent","year":"2007","journal-title":"Neurology"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.nmd.2007.05.009","article-title":"An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients","volume":"17","author":"Glanzman","year":"2007","journal-title":"Neuromuscul. Disord."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Pera, M.C., Coratti, G., Forcina, N., Mazzone, E.S., Scoto, M., Montes, J., Pasternak, A., Mayhew, A., Messina, S., and Sframeli, M. (2017). Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy. BMC Neurol., 17.","DOI":"10.1186\/s12883-017-0790-9"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1002\/mus.26419","article-title":"Revised upper limb module for spinal muscular atrophy: 12 month changes","volume":"59","author":"Pera","year":"2019","journal-title":"Muscle Nerve"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0022-510X(99)00210-5","article-title":"The ALSFRS-R: A revised ALS functional rating scale that incorporates assessments of respiratory function","volume":"169","author":"Cedarbaum","year":"1999","journal-title":"J. Neurol. Sci."},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Brakemeier, S., Stolte, B., Thimm, A., Kizina, K., Totzeck, A., Munoz-Rosales, J., Kleinschnitz, C., and Hagenacker, T. (2021). Assessment of bulbar function in adult patients with 5q-sma type 2 and 3 under treatment with nusinersen. Brain Sci., 11.","DOI":"10.3390\/brainsci11091244"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2329048X211008725","DOI":"10.1177\/2329048X211008725","article-title":"Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment","volume":"8","author":"Pierzchlewicz","year":"2021","journal-title":"Child Neurol. Open"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"2582","DOI":"10.1111\/ene.14902","article-title":"Treatment expectations and perception of therapy in adult patients with spinal muscular atrophy receiving nusinersen","volume":"28","author":"Meyer","year":"2021","journal-title":"Eur. J. Neurol."},{"key":"ref_37","first-page":"61","article-title":"Functional evaluation: The Barthel Index","volume":"14","author":"Mahoney","year":"1965","journal-title":"Md. State Med. J."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/0895-4356(89)90065-6","article-title":"Improving the senstivity of the Barthel Index for stroke rehabilitation","volume":"42","author":"Shah","year":"1989","journal-title":"J. Clin. Epidemiol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1007\/s11136-020-02688-y","article-title":"Psychometric properties of the EQ-5D-5L: A systematic review of the literature","volume":"30","author":"Feng","year":"2020","journal-title":"Qual. Life Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s40273-018-0615-8","article-title":"Graf von der Schulenburg JM, Greiner W. German Value Set for the EQ-5D-5L","volume":"36","author":"Ludwig","year":"2018","journal-title":"Pharmacoeconomics"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1007\/s11136-011-9903-x","article-title":"Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L)","volume":"20","author":"Herdman","year":"2011","journal-title":"Qual. Life Res."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1023\/A:1025052609818","article-title":"Patients\u2019 health-related quality-of-life and health state values for motor neurone disease\/amyotrophic lateral sclerosis","volume":"12","author":"Green","year":"2003","journal-title":"Qual. Life Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1111\/j.1365-2753.2010.01513.x","article-title":"The factor structure of the SF-36 in adults with progressive neuromuscular disorders","volume":"18","author":"Banks","year":"2012","journal-title":"J. Eval. Clin. Pract."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"205031211667172","DOI":"10.1177\/2050312116671725","article-title":"SF-36 total score as a single measure of health-related quality of life: Scoping review","volume":"4","author":"Lins","year":"2016","journal-title":"SAGE Open Med."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1097\/00005650-199401000-00004","article-title":"The MOS 36-item Short-Form Health Survey (SF-36): III. Tests of data quality, scaling assumptions, and reliability across diverse patient groups","volume":"32","author":"McHorney","year":"1994","journal-title":"Med. Care"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"3130","DOI":"10.1097\/00007632-200012150-00008","article-title":"SF-36 Health Survey Update","volume":"25","author":"Ware","year":"2000","journal-title":"Spine (Phila Pa 1976)"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.jad.2007.11.012","article-title":"Validity of the ALS-Depression-Inventory (ADI-12)- A new screening instrument for depressive disorders in patients with amyotrophic lateral sclerosis","volume":"109","author":"Hammer","year":"2008","journal-title":"J. Affect. Disord."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1111\/j.1600-0447.1983.tb09716.x","article-title":"The Hospital Anxiety and Depression Scale","volume":"67","author":"Zigmond","year":"1983","journal-title":"Acta Psychiatr. Scand."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1526","DOI":"10.1007\/s00415-015-7746-z","article-title":"Caregiver burden in amyotrophic lateral sclerosis: A cross-sectional investigation of predictors","volume":"262","author":"Burke","year":"2015","journal-title":"J. Neurol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/S0022-3999(01)00296-3","article-title":"The validity of the Hospital Anxiety and Depression Scale An updated literature review","volume":"52","author":"Bjelland","year":"2002","journal-title":"J. Psychosom. Res."},{"key":"ref_51","first-page":"S454","article-title":"Measures of depression and depressive symptoms: Beck Depression Inventory-II (BDI-II), Center for Epidemiologic Studies Depression Scale (CES-D), Geriatric Depression Scale (GDS), Hospital Anxiety and Depression Scale (HADS), and Patient Health Questionnaire-9 (PHQ-9)","volume":"63","author":"Smarr","year":"2011","journal-title":"Arthritis Rheum."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/gps.1275","article-title":"Beyond the global score of the Zarit Burden Interview: Useful dimensions for clinicians","volume":"20","author":"Ankri","year":"2005","journal-title":"Int. J. Geriatr. Psychiatry"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1093\/geront\/26.3.260","article-title":"Subjective Burden of Husbands and Wives as Caregivers: A Longitudinal Study 1","volume":"26","author":"Zarit","year":"1986","journal-title":"Gerontologist"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"875","DOI":"10.3233\/JAD-150475","article-title":"The evolution of caregiver burden in frontotemporal dementia with and without amyotrophic lateral sclerosis","volume":"49","author":"Hsieh","year":"2015","journal-title":"J. Alzheimer\u2019s Dis."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1080\/13607860500312142","article-title":"Assessing family caregiver\u2019s mental health using a statistically derived cut-off score for the Zarit Burden Interview","volume":"10","author":"Schreiner","year":"2006","journal-title":"Aging Ment. Health"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"933","DOI":"10.1007\/s10198-019-01054-1","article-title":"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","volume":"20","author":"Grochtdreis","year":"2019","journal-title":"Eur. J. Health Econ."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1212\/WNL.0000000000009715","article-title":"Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy","volume":"95","author":"Chambers","year":"2020","journal-title":"Neurology"},{"key":"ref_58","doi-asserted-by":"crossref","unstructured":"Pe\u00f1a-Longobardo, L.M., Aranda-Reneo, I., Oliva-Moreno, J., Litzkendorf, S., Durand-Zaleski, I., Tizzano, E., and L\u00f3pez-Bastida, J. (2020). The economic impact and health-related quality of life of spinal muscular atrophy. An analysis across europe. Int. J. Environ. Res. Public Health, 17.","DOI":"10.21203\/rs.3.rs-27935\/v1"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"553","DOI":"10.3233\/JND-200610","article-title":"Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada","volume":"8","author":"McMillan","year":"2021","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/s13023-017-0695-0","article-title":"Social\/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain","volume":"12","author":"Tizzano","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1177\/104990910201900109","article-title":"Assessment of pain and health-related quality of life in slowly progressive neuromuscular disease","volume":"19","author":"Abresch","year":"2002","journal-title":"Am. J. Hosp. Palliat. Med."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1002\/mus.25148","article-title":"Correlates of health related quality of life in adult patients with spinal muscular atrophy","volume":"54","author":"Wadman","year":"2016","journal-title":"Muscle Nerve"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1408","DOI":"10.1080\/09638288.2016.1196398","article-title":"Quality of life of patients with Duchenne muscular dystrophy: From adolescence to young men","volume":"39","author":"Lue","year":"2017","journal-title":"Disabil. Rehabil."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1016\/j.apmr.2015.02.012","article-title":"Prevalence of Fatigue, Pain, and Affective Disorders in Adults With Duchenne Muscular Dystrophy and Their Associations With Quality of Life","volume":"96","author":"Pangalila","year":"2015","journal-title":"Arch. Phys. Med. Rehabil."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.3389\/fneur.2019.01098","article-title":"Patient-Reported Prevalence of Non-motor Symptoms Is Low in Adult Patients Suffering From 5q Spinal Muscular Atrophy","volume":"10","author":"Wurster","year":"2019","journal-title":"Front. Neurol."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"423","DOI":"10.4172\/2155-9562.1000423","article-title":"Functional Decline is Associated with Hopelessness in Amyotrophic Lateral Sclerosis (ALS)","volume":"08","author":"Paganoni","year":"2017","journal-title":"J. Neurol. Neurophysiol."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1212\/01.WNL.0000076182.13137.38","article-title":"Noninvasive ventilation in ALS Indications and effect on quality of life","volume":"61","author":"Bourke","year":"2003","journal-title":"Neurology"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1080\/14660820500514974","article-title":"Effect of non-invasive ventilation on survival, quality of life, respiratory function and cognition: A review of the literature","volume":"7","author":"Piepers","year":"2006","journal-title":"Amyotroph. Lateral Scler."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Peseschkian, T., Cordts, I., G\u00fcnther, R., Stolte, B., Zeller, D., Schr\u00f6ter, C., Weyen, U., Regensburger, M., Wolf, J., and Schneider, I. (2021). A nation-wide, multi-center study on the quality of life of ALS patients in Germany. Brain Sci., 11.","DOI":"10.3390\/brainsci11030372"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/j.nmd.2019.06.599","article-title":"Quality of life in long term ventilated adult patients with Duchenne muscular dystrophy","volume":"29","author":"Crescimanno","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1007\/s00415-016-8080-9","article-title":"Quantifying the burden of caregiving in Duchenne muscular dystrophy","volume":"263","author":"Landfeldt","year":"2016","journal-title":"J. Neurol."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Aranda-Reneo, I., Pe\u00f1a-Longobardo, L.M., Oliva-Moreno, J., Litzkendorf, S., Durand-Zaleski, I., Tizzano, E.F., and L\u00f3pez-Bastida, J. (2020). The burden of spinal muscular atrophy on informal caregivers. Int. J. Environ. Res. Public Health, 17.","DOI":"10.3390\/ijerph17238989"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1007\/s00415-018-8770-6","article-title":"Longitudinal predictors of caregiver burden in amyotrophic lateral sclerosis: A population-based cohort of patient\u2013caregiver dyads","volume":"265","author":"Burke","year":"2018","journal-title":"J. Neurol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/psyg.12087","article-title":"Caregiving across the lifespan: Comparing caregiver burden, mental health, and quality of life","volume":"15","author":"Neto","year":"2015","journal-title":"Psychogeriatrics"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.nmd.2019.02.011","article-title":"Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy","volume":"29","author":"Cremers","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1177\/1099800418776082","article-title":"Biological Sex Differences in Depression: A Systematic Review","volume":"20","author":"Labaka","year":"2018","journal-title":"Biol. Res. Nurs."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"429","DOI":"10.3109\/09540261.2010.492391","article-title":"Gender differences in depression","volume":"22","author":"Parker","year":"2010","journal-title":"Int. Rev. Psychiatry"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1212\/01.wnl.0000257093.53430.a8","article-title":"A longitudinal study on quality of life and depression in ALS patient-caregiver couples","volume":"68","author":"Gauthier","year":"2007","journal-title":"Neurology"},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"354","DOI":"10.4040\/jkan.2011.41.3.354","article-title":"Correlation between severe als patient-caregiver couples\u2019 characteristics and caregivers\u2019 health related quality of life","volume":"41","author":"Kim","year":"2011","journal-title":"J. Korean Acad. Nurs."},{"key":"ref_80","first-page":"292","article-title":"Die Version 2.0 des SF-36 Health Survey-Ergebnisse einer bev\u00f6lkerungsrepr\u00e4sentativen Studie","volume":"50","author":"Morfeld","year":"2005","journal-title":"Soz Prav."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1186\/s13023-020-01477-7","article-title":"Experiences of caregivers of children with spinal muscular atrophy participating in the expanded access program for nusinersen: A longitudinal qualitative study","volume":"15","author":"Kiefer","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"812063","DOI":"10.3389\/fneur.2021.812063","article-title":"Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment\u2014A Pilot Study","volume":"12","author":"Thimm","year":"2022","journal-title":"Front. Neurol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"2398","DOI":"10.1007\/s00415-020-09847-8","article-title":"Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy","volume":"267","author":"Osmanovic","year":"2020","journal-title":"J. Neurol."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"1756286421998902","DOI":"10.1177\/1756286421998902","article-title":"Treatment satisfaction in 5q-spinal muscular atrophy under nusinersen therapy","volume":"14","author":"Osmanovic","year":"2021","journal-title":"Ther. Adv. Neurol. Disord."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1056\/NEJMoa2102047","article-title":"Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls","volume":"385","author":"Darras","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1056\/NEJMoa2009965","article-title":"Risdiplam in Type 1 Spinal Muscular Atrophy","volume":"384","author":"Baranello","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/s41591-022-01867-3","article-title":"Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: The Phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat. Med."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1038\/s41591-022-01866-4","article-title":"Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: The Phase III SPR1NT trial","volume":"28","author":"Strauss","year":"2022","journal-title":"Nat. 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