Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool

PLoS One. 2017 Feb 21;12(2):e0172346. doi: 10.1371/journal.pone.0172346. eCollection 2017.

Abstract

Recent translational research developments in Spinal Muscular Atrophy (SMA), outcome measure design and demands from regulatory authorities require that clinical outcome assessments are 'fit for purpose'. An international collaboration (SMA REACH UK, Italian SMA Network and PNCRN USA) undertook an iterative process to address discontinuity in the recorded performance of the Hammersmith Functional Motor Scale Expanded and developed a revised functional scale using Rasch analysis, traditional psychometric techniques and the application of clinical sensibility via expert panels. Specifically, we intended to develop a psychometrically and clinically robust functional clinician rated outcome measure to assess physical abilities in weak SMA type 2 through to strong ambulant SMA type 3 patients. The final scale, the Revised Hammersmith Scale (RHS) for SMA, consisting of 36 items and two timed tests, was piloted in 138 patients with type 2 and 3 SMA in an observational cross-sectional multi-centre study across the three national networks. Rasch analysis demonstrated very good fit of all 36 items to the construct of motor performance, good reliability with a high Person Separation Index PSI 0.98, logical and hierarchical scoring in 27/36 items and excellent targeting with minimal ceiling. The RHS differentiated between clinically different groups: SMA type, World Health Organisation (WHO) categories, ambulatory status, and SMA type combined with ambulatory status (all p < 0.001). Construct and concurrent validity was also confirmed with a strong significant positive correlation with the WHO motor milestones rs = 0.860, p < 0.001. We conclude that the RHS is a psychometrically sound and versatile clinical outcome assessment to test the broad range of physical abilities of patients with type 2 and 3 SMA. Further longitudinal testing of the scale with regards change in scores over 6 and 12 months are required prior to its adoption in clinical trials.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Disease Progression
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mobility Limitation
  • Motor Activity
  • Outcome Assessment, Health Care / methods*
  • Pilot Projects
  • Psychometrics
  • Severity of Illness Index*
  • Spinal Muscular Atrophies of Childhood*
  • Young Adult

Grants and funding

The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript. This study was supported, in the UK, by The SMA Trust financial support to FM for the SMA REACH UK project and the positions of MS, DR, AM and FM, and included support for hosting the international workshops. Grant number 13/LO/1748; 513395; http://www.hra.nhs.uk/news/research-summaries/uk-national-platform-for-spinal-muscular-atrophy-sma/; http://www.smatrust.org/research-project/improving-standards-care-translational-research-sma/. The financial support of the Muscular Dystrophy UK Centre grant (07DN02; 37787 http://www.musculardystrophyuk.org/grants/clinical-trial-coordinators/); of the MRC Translational Research Centre to UCL and Newcastle (MR/K501074/1), and of the National Institute for Health Research Biomedical Research Centre (515048) at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London is also gratefully acknowledged (http://www.gosh.nhs.uk/research-and-innovation/nihr-great-ormond-street-brc/about-brc). The SMA Foundation, New York, NY is also gratefully acknowledged for supporting the PNCR network in USA. https://www.urmc.rochester.edu/neurology/sma.aspxhttp://www.smafoundation.org/research/clinical/#Natural_History_Study. Telethon/Famiglie SMA are also gratefully acknowledged for supporting the Italian SMA Network (ReteSMA GSP 13002). http://www.famigliesma.org/index.php?option=com_content&view=article&id=430&Itemid=684.