Christine E Zizzi1,2, Elizabeth Luebbe1, Phillip Mongiovi1, Michael Hunter3, Nuran Dilek1, Connie Garland4, Emma Ciafaloni1, Craig M Zaidman5, John T Kissel6, Michael P McDermott1,2,7, Nicholas Johnson8, Valeria Sansone9, Chad R Heatwole1,2. 1. Department of Neurology, University of Rochester, Rochester, New York, USA. 2. Center for Health and Technology, Rochester, New York, USA. 3. Department of Neurology, University of California Irvine, Orange, California, USA. 4. Department of Pediatric Neurological Surgery, Indiana University School of Medicine, Indianapolis, Indiana, USA. 5. Department of Neurology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA. 6. Department of Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA. 7. Department of Biostatistics and Computational Biology, University of Rochester, Rochester, New York, USA. 8. Department of Neurology, Virginia Commonwealth University, Richmond, Virginia, USA. 9. NEuroMuscular Omnicentre (NEMO), Piazza Ospedale Maggiore 3, Milan, Italy.
Abstract
INTRODUCTION: The Spinal Muscular Atrophy Health Index (SMA-HI) is a multifaceted, disease-specific, patient-reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the validity, reliability, and usability of the SMA-HI in adults, teenagers, and children with SMA. METHODS: Using data from a cross-sectional study of 359 international adult patients with SMA, we identified the most relevant symptoms to include in the SMA-HI. We utilized factor analysis, patient interviews with adults and minors (age 8-15 years), known-group validity testing, and test-retest reliability assessments to evaluate and refine the SMA-HI. RESULTS: The SMA-HI measures overall disease burden and 15 areas of SMA health. Fifteen adult patients and five patients, age 8 to 15 years, participated in semistructured qualitative interviews and found the SMA-HI to be comprehensive, easily completed, and to have clear meaning. The final SMA-HI and its subscales demonstrated good internal consistency (Cronbach α = 0.77-0.96), high test-retest reliability (intraclass correlation coefficient = 0.60-0.96), and an ability to differentiate between SMA groups with different disease severities affecting areas such as employment and ambulation (P < .0001 for both). DISCUSSION: This research provides evidence that the SMA-HI is a valid, relevant, and reliable outcome measure to assess multifaceted patient-reported disease burden in older children, teenagers, and adults with SMA. The SMA-HI provides an opportunity for researchers and clinicians to measure a SMA patient's perception of their health and determine relevant changes in response to therapeutic intervention or disease progression.
INTRODUCTION: The Spinal Muscular Atrophy Health Index (SMA-HI) is a multifaceted, disease-specific, patient-reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the validity, reliability, and usability of the SMA-HI in adults, teenagers, and children with SMA. METHODS: Using data from a cross-sectional study of 359 international adult patients with SMA, we identified the most relevant symptoms to include in the SMA-HI. We utilized factor analysis, patient interviews with adults and minors (age 8-15 years), known-group validity testing, and test-retest reliability assessments to evaluate and refine the SMA-HI. RESULTS: The SMA-HI measures overall disease burden and 15 areas of SMA health. Fifteen adult patients and five patients, age 8 to 15 years, participated in semistructured qualitative interviews and found the SMA-HI to be comprehensive, easily completed, and to have clear meaning. The final SMA-HI and its subscales demonstrated good internal consistency (Cronbach α = 0.77-0.96), high test-retest reliability (intraclass correlation coefficient = 0.60-0.96), and an ability to differentiate between SMA groups with different disease severities affecting areas such as employment and ambulation (P < .0001 for both). DISCUSSION: This research provides evidence that the SMA-HI is a valid, relevant, and reliable outcome measure to assess multifaceted patient-reported disease burden in older children, teenagers, and adults with SMA. The SMA-HI provides an opportunity for researchers and clinicians to measure a SMA patient's perception of their health and determine relevant changes in response to therapeutic intervention or disease progression.
Authors: Andreas Thimm; Svenja Brakemeier; Kathrin Kizina; Juan Munoz Rosales; Benjamin Stolte; Andreas Totzeck; Cornelius Deuschl; Christoph Kleinschnitz; Tim Hagenacker Journal: Front Neurol Date: 2022-01-24 Impact factor: 4.003