Assessment of Health-Related Quality of Life in Adult Spinal Muscular Atrophy Under Nusinersen Treatment—A Pilot Study

Thimm, Andreas; Brakemeier, Svenja; Kizina, Kathrin; Rosales, Juan Munoz; Stolte, Benjamin; Totzeck, Andreas; Deuschl, Cornelius; Kleinschnitz, Christoph; Hagenacker, Tim

doi:10.3389/fneur.2021.812063

Cited by 17 publications

(13 citation statements)

References 41 publications

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“…Another important finding was that the patients could benefit from Nusinersen treatment. This result supports evidence from previous observations (5,8,15). Compared to the conventional treatment, patients receiving Nusinersen showed higher HRQoL scores, more patients achieved improvement in their health condition in the past six months, and the benefits grew over time.…”

Section: Discussionsupporting

confidence: 90%

“…Before the approval of Nusinersen, the management of SMA was limited to symptomatic treatment, and the conventional treatment is supportive care. Nusinersen is the first disease-modifying medication for SMA, significantly improving motor function (5,6). A huge potential for improving HRQoL can be reached if the new therapeutic intervention results in a less severe course of the disease (7).…”

Section: Introductionmentioning

confidence: 99%

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Assessment of health-related quality of life in patients with spina muscular atrophy in China

Duan

et al. 2022

IRDR

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spina muscular atrophy, quality of life, patient-reported outcome, rare diseases, Nusinersen Spinal muscular atrophy (SMA) is a rare disease that has attracted considerable interest in China due to its severity and hefty treatment costs. Few studies have been conducted on Chinese patients. The objective of this study was to assess the quality of life of SMA patients in China and to investigate the real impact of new treatments. We used the Pediatric Quality of Life Inventory (PedsQL) to analyze the Health-related quality of life (HRQoL) of patients with SMA in China. Information on demographics, disease-specific characteristics, and treatment were collected using a child-reported or proxy-reported questionnaire. The mean scores of HRQoL for the Nusinersen treatment group and conventional treatment groups are 55.6 and 48.4, respectively. Patients with SMA type I have the lowest scores, while those with type III have the highest scores. A higher proportion of the medication group showed improvement in the condition in the past six months (56.9% vs. 17.1%). Our results show that the clinical type, motor function and treatment strategy have a significant influence on HRQoL. The findings imply that Nusinersen benefits patients by slowing the progression of the disease and increasing their quality of life in the real world.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Assessment of health-related quality of life in patients with spina muscular atrophy in China

Duan

et al. 2022

IRDR

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“…Research shows the "need for novel, disease-specific assessments of quality of life in SMA" (Thimm et al, 2022).…”

Section: Introductionmentioning

confidence: 99%

Spirituality on the Blog – Interpretation of the Narrative of a SMA Patient

Ciszewska

2022

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RESEARCH OBJECTIVE: The main goal of this article is to try to recognize the importance of spirituality in the process of dealing with SMA described on the patient’s blog. PROBLEM AND RESEARCH METHODS: We searched for answers to questions about the importance of spirituality in the context of struggling with the disease, religious coping strategies, and the way of growing in faith shown on the blog. A research approach was used, embedded in an interpretative paradigm, aimed at understanding and discovering the meanings given by the author of the narrative. THE PROCESS OF ARGUMENTATION: The introduction contains a description of the SMA, characterizes the blog as a research source and outlines the subject of the text. In the next section, the categories of spirituality and religious strategies for coping with disease are characterized, and research on the relationship between spirituality and health is reviewed. The presentation describes the methods used and the results of own research. In conclusion, an attempt was made to define the meaning of spirituality in the patient’s life in the context of his life with the disease. The implications for pedagogical practice include reflections on the role of accompaniment in illness in the context of spiritual growth. RESEARCH RESULTS: Spirituality is an important part of the author’s life – he searched for answers regarding the meaning of suffering. He most often used a religious coping strategy through positive reevaluation (Harrison et al., 2001). The main motive for writing about transcendence seems to be the need to give a testimony. The blog is an illustration of the process of growing in faith. CONCLUSIONS, INNOVATIONS, RECOMMENDATIONS: The blog is a source of knowledge about patients’ experiences, helpful for specialists. Accompanying the sick person and listening to their history can be of educational value for both parties.

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“…Diagnosis is confirmed genetically and electrodiagnostic features are consistent with motor axonal loss, with only rare reports of sensory and autonomic nerve involvement. In this issue of the European Journal of Neurology , Thimm et al [1] challenge this concept by using corneal confocal microscopy (CCM) to demonstrate sensory nerve loss in adults with 5q‐SMA. Moreover, lower corneal axonal density correlated with the Hammersmith Functional Motor Scale score and distance on the 6‐Minute Walk Test.…”

mentioning

confidence: 99%

“…Thimm et al [1] unequivocally demonstrate sensory axonal loss and report on the clinical utility of CCM in patients with 5q‐SMA. This rapid, ophthalmic imaging technique enables the identification of patients with early disease who are more likely to benefit from treatment.…”

mentioning

confidence: 99%