The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure

Marika Pane, Eugenio Maria Mercuri, Giorgia Coratti, Maria Carmela Pera, Valeria A. Sansone, Alice Pirola, Andrea Lizio, Lucia Catherine Greco, Jacopo Casiraghi, Cristina Italiano, Sonia Messina, Susanna Pozzi, Maria Sframeli, Adele D'Amico, Enrico Bertini, Claudio Bruno, Luca Mauro, Francesca Salmin, Claudia Stancanelli, Marina PedemonteEmilio Albamonte, Christine Zizzi, Chad Heatwole

Research output: Contribution to journalArticle

Abstract

Patient report outcome measures in Spinal Muscular Atrophy (SMA) represent a potential complement to observer rated scales which can be used to better understand treatment response. We developed, translated and validated an Italian version of the Spinal Muscular Atrophy Health Index (SMAHI), a disease-specific, patient reported outcome measure questionnaire, designed to estimate the patients’ perception of disease burden. Test-retest reliability was assessed in 37 patients (16 children aged 12–17 and 21 adults) and was excellent in both cohorts. Internal consistency in an additional 98 patients (24 children, 74 adults) was also excellent (Cronbach's alpha = 0.93 and 0.91 respectively). In children the highest level of disease burden was generated from lower limb dysfunction and fatigue as well as their perception of decreased performance in social situations. Most patients in the adult cohort were sitters and complained of problems with upper limb functions as well as of fatigue. The SMAHI-IT was also able to differentiate between SMA types according to diseases severity. The results of our study demonstrate that the SMAHI can be considered a marker of disease-specific burden in patients with SMA with a high test-retest reliability and internal validity in Italian patients aged 12 and older.
Original languageEnglish
Pages (from-to)409-418
Number of pages10
JournalNeuromuscular Disorders
Volume31
DOIs
Publication statusPublished - 2021

Keywords

  • Internal validity
  • Patient-reported outcomes
  • Test-retest reliability
  • Spinal muscular atrophy health index
  • Spinal muscular atrophy

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