Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0

Gianpaolo Cicala; Marika Pane; Giorgia Coratti; Claudia Brogna; Lavinia Fanelli; Giulia Norcia; Nicola Forcina; Elena Mazzone; Giulia Stanca; Roberta Ferrante; Alessandra Vento; Elisabetta Ferraroli; Martina Ricci; Anna Capasso; Daniela Leone; Concetta Palermo; Beatrice Berti; Costanza Cutrona; Anna Mahyew; Tina Duong; Natalie Goemans; Elizabeth Vroom; Eugenio Mercuri

doi:10.1016/j.nmd.2023.07.003

Patient reported outcome measure for upper limb in Duchenne muscular dystrophy: correlation with PUL2.0

Neuromuscul Disord. 2023 Sep;33(9):69-73. doi: 10.1016/j.nmd.2023.07.003. Epub 2023 Jul 22.

Authors

Gianpaolo Cicala¹, Marika Pane¹, Giorgia Coratti¹, Claudia Brogna², Lavinia Fanelli³, Giulia Norcia³, Nicola Forcina³, Elena Mazzone⁴, Giulia Stanca³, Roberta Ferrante³, Alessandra Vento³, Elisabetta Ferraroli⁴, Martina Ricci¹, Anna Capasso¹, Daniela Leone³, Concetta Palermo³, Beatrice Berti³, Costanza Cutrona⁴, Anna Mahyew⁵, Tina Duong⁶, Natalie Goemans⁷, Elizabeth Vroom⁸, Eugenio Mercuri⁹

Affiliations

¹ Paediatric Neurology, Catholic University, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Gemelli IRCCS, Rome, Italy.
² Neuropsichiatria Infantile, Fondazione Policlinico Gemelli IRCCS, Rome, Italy.
³ Centro Clinico Nemo, Fondazione Policlinico Gemelli IRCCS, Rome, Italy.
⁴ Paediatric Neurology, Catholic University, Rome, Italy.
⁵ John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle upon Tyne, UK.
⁶ Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.
⁷ Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
⁸ Duchenne Parent Project, Veenendaal, the Netherlands.
⁹ Paediatric Neurology, Catholic University, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Gemelli IRCCS, Rome, Italy; Neuropsichiatria Infantile, Fondazione Policlinico Gemelli IRCCS, Rome, Italy. Electronic address: eugeniomaria.mercuri@unicatt.it.

PMID: 37612177
DOI: 10.1016/j.nmd.2023.07.003

Abstract

The increasing pressure to include non ambulant Duchenne muscular dystrophy (DMD) boys in clinical trials has highlighted the need for outcome measures that could address the impact of upper limb function on activities of daily living. The aim of the present study was to establish the correlation between the recently developed Patient Reported Outcome Measure for the upper limb (PROM UL) and the observer rated functional scale Performance of Upper Limb (PUL 2.0) in a large cohort of DMD boys and young adults. As part of a larger natural history study, non ambulant DMD patients were assessed using PUL2.0 and PROM UL. One hundred and twenty-five concurrent PUL 2.0 and PROM UL evaluations from 60 non ambulant DMD boys were taken into consideration. The total PROM UL scores showed a strong correlation with both PUL 2.0 total scores and with PUL 2.0 entry item score. The strong correlation between the two tools confirms the clinical meaningfulness of the PUL2.0 and that the PROM UL can help to detect the gradient of progression of upper limb involvement.

Keywords: Duchenne; Functional; Patient reported outcome measures; Upper limb.

MeSH terms

Activities of Daily Living*
Humans
Male
Muscular Dystrophy, Duchenne* / diagnosis
Patient Reported Outcome Measures
Upper Extremity
Young Adult