2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants

Author:

Stimpson Georgia1ORCID,Ramsey Danielle12,Wolfe Amy1,Mayhew Anna3,Scoto Mariacristina1,Baranello Giovanni14ORCID,Muni Lofra Robert3ORCID,Main Marion1,Milev Evelin1ORCID,Coratti Giorgia56ORCID,Pane Marika56,Sansone Valeria7,D’Amico Adele8ORCID,Bertini Enrico8ORCID,Messina Sonia9ORCID,Bruno Claudio10,Albamonte Emilio7,Mazzone Elena Stacy56ORCID,Montes Jacqueline11,Glanzman Allan M.12,Zolkipli-Cunningham Zarazuela1213ORCID,Pasternak Amy14,Duong Tina15,Dunaway Young Sally15,Civitello Matthew1617,Marini-Bettolo Chiara3,Day John W.15,Darras Basil T.14,De Vivo Darryl C.11ORCID,Finkel Richard S.1617ORCID,Mercuri Eugenio56,Muntoni Francesco24

Affiliation:

1. Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK

2. School of Health and Sports Sciences, University of Suffolk, Ipswich IP4 1QJ, UK

3. The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle NE1 7RU, UK

4. National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, UK

5. Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy

6. Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy

7. The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy

8. Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy

9. Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy

10. Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy

11. Columbia University Irving Medical Center, New York, NY 10032, USA

12. Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA

13. Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA

14. Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA

15. Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA

16. Nemours Children’s Hospital and University of Central Florida College of Medicine, Orlando, FL 32827, USA

17. St. Jude Children’s Research Hospital, Memphis, TN 38105, USA

Abstract

The Revised Hammersmith Scale (RHS) is a 36-item ordinal scale developed using clinical expertise and sound psychometrics to investigate motor function in participants with Spinal Muscular Atrophy (SMA). In this study, we investigate median change in the RHS score up to two years in paediatric SMA 2 and 3 participants and contextualise it to the Hammersmith Functional Motor Scale–Expanded (HFMSE). These change scores were considered by SMA type, motor function, and baseline RHS score. We consider a new transitional group, spanning crawlers, standers, and walkers-with-assistance, and analyse that alongside non-sitters, sitters, and walkers. The transitional group exhibit the most definitive change score trend, with an average 1-year decline of 3 points. In the weakest patients, we are most able to detect positive change in the RHS in the under-5 age group, whereas in the stronger patients, we are most able to detect decline in the RHS in the 8–13 age group. The RHS has a reduced floor effect compared to the HFMSE, although we show that the RHS should be used in conjunction with the RULM for participants scoring less than 20 points on the RHS. The timed items in the RHS have high between-participant variability, so participants with the same RHS total can be differentiated by their timed test items.

Funder

SMA REACH UK project

Biogen Inc.

Muscular Dystrophy UK

National Institute for Health Research Biomedical Research Centre

Famiglie SMA

Publisher

MDPI AG

Subject

General Medicine

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