Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis

Camilla Wohnrade; Ann-Kathrin Velling; Lucas Mix; Claudia D Wurster; Isabell Cordts; Benjamin Stolte; Daniel Zeller; Zeljko Uzelac; Sophia Platen; Tim Hagenacker; Marcus Deschauer; Paul Lingor; Albert C Ludolph; Dorothée Lulé; Susanne Petri; Alma Osmanovic; Olivia Schreiber-Katz

doi:10.3390/brainsci13010110

Health-Related Quality of Life in Spinal Muscular Atrophy Patients and Their Caregivers-A Prospective, Cross-Sectional, Multi-Center Analysis

Brain Sci. 2023 Jan 7;13(1):110. doi: 10.3390/brainsci13010110.

Authors

Camilla Wohnrade¹, Ann-Kathrin Velling¹, Lucas Mix², Claudia D Wurster², Isabell Cordts³, Benjamin Stolte⁴, Daniel Zeller⁵, Zeljko Uzelac², Sophia Platen², Tim Hagenacker⁴, Marcus Deschauer³, Paul Lingor³, Albert C Ludolph^{2

6}, Dorothée Lulé², Susanne Petri¹, Alma Osmanovic^{1

7}, Olivia Schreiber-Katz¹

Affiliations

¹ Department of Neurology, Hannover Medical School, 30625 Hannover, Germany.
² Department of Neurology, University of Ulm, 89081 Ulm, Germany.
³ Department of Neurology, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.
⁴ Department of Neurology and Center for Translational Neuro- and Behavioral Science, University Medicine Essen, 45147 Essen, Germany.
⁵ Department of Neurology, University of Wuerzburg, 97080 Wuerzburg, Germany.
⁶ German Center for Neurodegenerative Diseases, 89081 Ulm, Germany.
⁷ Essen Center for Rare Diseases (EZSE), University Hospital Essen, 45147 Essen, Germany.

Abstract

Spinal muscular atrophy (SMA) is a disabling disease that affects not only the patient’s 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 <0.259 or >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’ 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.

Keywords: caregiver; caregiver burden; mental health; patient reported outcome measures; quality of life; spinal muscular atrophy.

Grants and funding

No targeted study funding. D.L. was supported by the Kompetenznetzwerk Baden-Württemberg “Präventive Medizin”. A.O. was supported by PRACTIS—Clinician Scientist Program of Hannover Medical School, funded by the German Research Foundation (DFG, ME 3696/3-1, 2020–2021). O.S.-K. received academic research support from the Hannover Medical School Young Faculty Program, 2018–2020; the German Neuromuscular Society “Deutsche Gesellschaft fuer Muskelkranke” (DGM e.V.), 2019–2021 (grant no. Sc 23/1); and the “Ellen-Schmidt-Program—Habilitationsfoerderung fuer Wissenschaftlerinnen”, Hannover Medical School (2021).