Quality of life assessment in adult spinal muscular atrophy patients treated with nusinersen.

Autor: Bonanno S; Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy., Zanin R; Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bello L; Department of Neuroscience, Myology Institute, University of Padova, Padua, Italy., Tramacere I; Department of Research and Clinical Development, Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Bozzoni V; Department of Neuroscience, Myology Institute, University of Padova, Padua, Italy., Caumo L; Department of Neuroscience, Myology Institute, University of Padova, Padua, Italy., Ferraro M; Department of Neurosciences Rita Levi Montalcini, Neuromuscular Center, University of Torino, Turin, Italy., Bortolani S; Department of Neurosciences Rita Levi Montalcini, Neuromuscular Center, University of Torino, Turin, Italy., Sorarù G; Department of Neuroscience, Myology Institute, University of Padova, Padua, Italy., Silvestrini M; Department of Neurological Sciences, Ospedali Riuniti di Ancona, Ancona, Italy.; Neurological Clinic, Marche Polytechnic University, Ancona, Italy., Vacchiano V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Turri M; Department of Neurology/Stroke Unit, San Maurizio Hospital, Bolzano, Italy., Tanel R; Neurology Disease Unit, Osp. S. Chiara APSS, Trento, Italy., Liguori R; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Coccia M; Department of Neurological Sciences, Ospedali Riuniti di Ancona, Ancona, Italy., Mantegazza RE; Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy., Mongini T; Department of Neurosciences Rita Levi Montalcini, Neuromuscular Center, University of Torino, Turin, Italy., Pegoraro E; Department of Neuroscience, Myology Institute, University of Padova, Padua, Italy., Maggi L; Neuroimmunology and Neuromuscular Disease Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. lorenzo.maggi@istituto-besta.it.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2022 Jun; Vol. 269 (6), pp. 3264-3275. Date of Electronic Publication: 2022 Jan 03.
DOI: 10.1007/s00415-021-10954-3
Abstrakt: Objective: To retrospectively evaluate quality of life (QoL) in a large multicenter cohort of adult patients affected by spinal muscular atrophy (SMA) during nusinersen treatment.
Methods: We included adult (≥ 18 years) patients clinically and genetically defined as SMA2, SMA3 and SMA4, who started nusinersen treatment in adulthood. QoL was rated by the Individualized Neuromuscular Quality of Life (INQoL) questionnaire. Concurrent motor function evaluation included the Hammersmith Functional Motor Scale Expanded (HFMSE), the Revised Upper Limb Module (RULM), the 6 min walking test (6MWT).
Results: 189 completed questionnaires were collected during a 14 months' treatment period. 78 patients were included (7 SMA2 and 69 SMA3 and 2 SMA4) with mean disease duration at first nusinersen administration of 33.2 years (± 12.5 years). All the scores for each INQoL domain (weakness, fatigue, activities, independence, social relationship, emotions, body images) and the derived QoL total score, significantly improved during the observation period, except the muscle locking and pain items. Exploratory analyses suggested that emotions and social relationships were more relevant issues for females compared to males. Social relationships were affected also by a longer disease duration (> 30 years). In SMA3 non-walker patients, activities ameliorate better compared to walkers. The HFMSE and RULM significantly improved from baseline; however, no associations with QoL total score and weakness, activities or independence were demonstrated.
Conclusion: In our cohort, adult SMA patients showed a global improvement at the INQoL assessment over 14 months of nusinersen treatment. QoL assessment is relevant to SMA multidisciplinary evaluation.
(© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)
Databáze: MEDLINE
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