Different trajectories in upper limb and gross motor function in spinal muscular atrophy.


Journal

Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146

Informations de publication

Date de publication:
11 2021
Historique:
revised: 20 07 2021
received: 31 01 2021
accepted: 24 07 2021
pubmed: 31 7 2021
medline: 18 3 2022
entrez: 30 7 2021
Statut: ppublish

Résumé

The Hammersmith Functional Motor Scale Expanded (HFMSE) and the Revised Upper Limb Module (RULM) have been widely used in natural history studies and clinical trials. Our aim was to establish how the scales relate to each other at different age points in spinal muscular atrophy (SMA) type 2 and 3, and to describe their coherence over 12 mo. The study was performed by cross-sectional and longitudinal reanalysis of previously published natural history data. The longitudinal analysis of the 12-mo changes also included the analysis of concordance between scales with changes grouped as stable (±2 points), improved (>+2) or declined (>-2). Three hundred sixty-four patients were included in the cross-sectional analysis, showing different trends in score and point of slope change for the two scales. For type 2, the point of slope change was 4.1 y for the HFMSE and 5.8 for the RULM, while for type 3, it was 6 y for the HFMSE and 7.3 for the RULM. One-hundred-twenty-one patients had at least two assessments at 12 mo. Full concordance was found in 57.3% of the assessments, and in 40.4% one scale remained stable and the other changed. Each scale appeared to be more sensitive to specific age or functional subgroups. The two scales, when used in combination, may increase the sensitivity to detect clinically meaningful changes in motor function in patients with SMA types 2 and 3.

Identifiants

pubmed: 34327716
doi: 10.1002/mus.27384
pmc: PMC9291175
doi:

Substances chimiques

Oligonucleotides 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

552-559

Commentaires et corrections

Type : CommentIn

Informations de copyright

© 2021 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.

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Auteurs

Giorgia Coratti (G)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Maria Carmela Pera (MC)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Jacqueline Montes (J)

Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, New York, USA.

Amy Pasternak (A)

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.

Mariacristina Scoto (M)

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.

Giovanni Baranello (G)

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.

Sonia Messina (S)

Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.

Sally Dunaway Young (S)

Department of Neurology, Stanford University, Stanford, California, USA.

Allan M Glanzman (AM)

Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Tina Duong (T)

Department of Neurology, Stanford University, Stanford, California, USA.

Roberto De Sanctis (R)

Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Elena Stacy Mazzone (ES)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.

Evelin Milev (E)

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.

Annemarie Rohwer (A)

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.

Matthew Civitello (M)

St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

Marika Pane (M)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Laura Antonaci (L)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Anna Lia Frongia (AL)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

Maria Sframeli (M)

Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.

Gian Luca Vita (GL)

Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.

Adele DʼAmico (A)

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

Irene Mizzoni (I)

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

Emilio Albamonte (E)

Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.

Basil T Darras (BT)

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.

Enrico Bertini (E)

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.

Valeria A Sansone (VA)

Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, Italy.

Francesca Bovis (F)

Biostatistics Unit, Department of Health Sciences, University of Genoa, Genoa, Italy.

John Day (J)

Department of Neurology, Stanford University, Stanford, California, USA.

Claudio Bruno (C)

Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Francesco Muntoni (F)

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.

Darryl C De Vivo (DC)

Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, New York, USA.

Richard Finkel (R)

St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

Eugenio Mercuri (E)

Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

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