Journal of Clinical Medicine (Feb 2023)
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants
- Georgia Stimpson,
- Danielle Ramsey,
- Amy Wolfe,
- Anna Mayhew,
- Mariacristina Scoto,
- Giovanni Baranello,
- Robert Muni Lofra,
- Marion Main,
- Evelin Milev,
- Giorgia Coratti,
- Marika Pane,
- Valeria Sansone,
- Adele D’Amico,
- Enrico Bertini,
- Sonia Messina,
- Claudio Bruno,
- Emilio Albamonte,
- Elena Stacy Mazzone,
- Jacqueline Montes,
- Allan M. Glanzman,
- Zarazuela Zolkipli-Cunningham,
- Amy Pasternak,
- Tina Duong,
- Sally Dunaway Young,
- Matthew Civitello,
- Chiara Marini-Bettolo,
- John W. Day,
- Basil T. Darras,
- Darryl C. De Vivo,
- Richard S. Finkel,
- Eugenio Mercuri,
- Francesco Muntoni
Affiliations
- Georgia Stimpson
- Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
- Danielle Ramsey
- Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
- Amy Wolfe
- Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
- Anna Mayhew
- The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle NE1 7RU, UK
- Mariacristina Scoto
- Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
- Giovanni Baranello
- Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
- Robert Muni Lofra
- The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle NE1 7RU, UK
- Marion Main
- Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
- Evelin Milev
- Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK
- Giorgia Coratti
- Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy
- Marika Pane
- Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy
- Valeria Sansone
- The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy
- Adele D’Amico
- Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
- Enrico Bertini
- Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
- Sonia Messina
- Department of Clinical and Experimental Medicine, University of Messina, 98122 Messina, Italy
- Claudio Bruno
- 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
- Emilio Albamonte
- The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy
- Elena Stacy Mazzone
- Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy
- Jacqueline Montes
- Columbia University Irving Medical Center, New York, NY 10032, USA
- Allan M. Glanzman
- Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
- Zarazuela Zolkipli-Cunningham
- Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
- Amy Pasternak
- Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA
- Tina Duong
- Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA
- Sally Dunaway Young
- Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA
- Matthew Civitello
- Nemours Children’s Hospital and University of Central Florida College of Medicine, Orlando, FL 32827, USA
- Chiara Marini-Bettolo
- The John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle NE1 7RU, UK
- John W. Day
- Departments of Neurology TD, Stanford University, Palo Alto, CA 94305, USA
- Basil T. Darras
- Boston Children’s Hospital, Harvard Medical School, Boston, MA 02115, USA
- Darryl C. De Vivo
- Columbia University Irving Medical Center, New York, NY 10032, USA
- Richard S. Finkel
- Nemours Children’s Hospital and University of Central Florida College of Medicine, Orlando, FL 32827, USA
- Eugenio Mercuri
- Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy
- Francesco Muntoni
- School of Health and Sports Sciences, University of Suffolk, Ipswich IP4 1QJ, UK
- DOI
- https://doi.org/10.3390/jcm12051920
- Journal volume & issue
-
Vol. 12,
no. 5
p. 1920
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.
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