Erik Landfeldt1, Josefin Edström2, Thomas Sejersen3, Már Tulinius4, Hanns Lochmüller5, Janbernd Kirschner6. 1. Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden. Electronic address: erik.landfeldt@ki.se. 2. Saco, Stockholm, Sweden. 3. The Department of Women's and Children's Health, Paediatric Neurology, Karolinska Institutet, Karolinska University Hospital, Astrid Lindgren Children's Hospital, Stockholm, Sweden. 4. Department of Pediatrics, University of Gothenburg, Queen Silvia Children's Hospital, Gothenburg, Sweden. 5. Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Children's Hospital of Eastern Ontario and The Ottawa Hospital, Department of Paediatrics, Division of Neurology, University of Ottawa, Ottawa, Canada; Children's Hospital of Eastern Ontario and The Ottawa Hospital, Department of Medicine, Division of Neurology, University of Ottawa, Ottawa, Canada. 6. Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.
Abstract
OBJECTIVES: To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality. METHODS: We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments. RESULTS: Of 824 identified articles, 15 met study criteria. Included publications contained data derived from samples from a total of 11 countries and three continents (Europe, North America, and South America). Estimates of the latent trait, primarily derived using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and the PedsQL 3.0 Neuromuscular Module, indicated impairment in patient QoL, in particular physical functioning. However, both patient self- and caregiver proxy-assessments varied markedly across studies and subgroups. Among adult individuals, the mean self-assessed EuroQol-5D-3L utility has been estimated at 0.16 for a pooled sample of patients with SMA type I, II, and III, and -0.01 for SMA type II. Little is known of the impact of available treatments, including nusinersen, on patient QoL. CONCLUSIONS: Our review show that QoL is impaired in SMA, mainly due to compromised physical health, but also reveal that little is known of the impact of the disease across different phenotypes and clinical interventions.
OBJECTIVES: To systematically review the literature of quality of life (QoL) of patients with spinal muscular atrophy (SMA), a rare, autosomal-recessive neuromuscular disease associated with extensive morbidity and elevated mortality. METHODS: We searched Embase, Web of Science, and PubMed for full-text, English-language articles (published between January 1, 2000 and July 31, 2018) reporting results from studies of QoL of patients with SMA. We excluded review and editorial articles, studies reporting results for samples comprising <5 patients (to allow for meaningful inference), and case reports/qualitative assessments. RESULTS: Of 824 identified articles, 15 met study criteria. Included publications contained data derived from samples from a total of 11 countries and three continents (Europe, North America, and South America). Estimates of the latent trait, primarily derived using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales and the PedsQL 3.0 Neuromuscular Module, indicated impairment in patient QoL, in particular physical functioning. However, both patient self- and caregiver proxy-assessments varied markedly across studies and subgroups. Among adult individuals, the mean self-assessed EuroQol-5D-3L utility has been estimated at 0.16 for a pooled sample of patients with SMA type I, II, and III, and -0.01 for SMA type II. Little is known of the impact of available treatments, including nusinersen, on patient QoL. CONCLUSIONS: Our review show that QoL is impaired in SMA, mainly due to compromised physical health, but also reveal that little is known of the impact of the disease across different phenotypes and clinical interventions.
Authors: Eugenio Mercuri; Charlotte J Sumner; Francesco Muntoni; Basil T Darras; Richard S Finkel Journal: Nat Rev Dis Primers Date: 2022-08-04 Impact factor: 65.038
Authors: Alma Osmanovic; Gresa Ranxha; Mareike Kumpe; Claudia D Wurster; Benjamin Stolte; Isabell Cordts; René Günther; Maren Freigang; Lars H Müschen; Camilla Binz; Andreas Hermann; Marcus Deschauer; Paul Lingor; Albert C Ludolph; Tim Hagenacker; Olivia Schreiber-Katz; Susanne Petri Journal: Ther Adv Neurol Disord Date: 2021-03-05 Impact factor: 6.570
Authors: Lucas Mix; Benedikt Winter; Claudia D Wurster; Sophia Platen; Simon Witzel; Zeljko Uzelac; Heiko Graf; Albert C Ludolph; Dorothée Lulé Journal: Front Neurol Date: 2021-03-29 Impact factor: 4.003