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Upper limb function changes over 12 months in untreated SMA II and III individuals: an item-level analysis using the Revised Upper Limb Module.
Coratti, Giorgia; Civitello, Matthew; Rohwer, Annemarie; Albamonte, Emilio; Montes, Jacqueline; Glanzman, Allan M; Pasternak, Amy; De Sanctis, Roberto; Young, Sally Dunaway; Duong, Tina; Mizzoni, Irene; Milev, Evelin; Sframeli, Maria; Morando, Simone; D'Amico, Adele; Catteruccia, Michela; Brolatti, Noemi; Pane, Marika; Scoto, Mariacristina; Messina, Sonia; Hirano, Michio; Zolkipli-Cunningham, Zarazuela; Darras, Basil T; Bertini, Enrico; Bruno, Claudio; Sansone, Valeria A; Salmin, Francesca; Day, John; Baranello, Giovanni; Pera, Maria Carmela; Muntoni, Francesco; Finkel, Richard S; Mercuri, Eugenio.
Affiliation
  • Coratti G; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Civitello M; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Rohwer A; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Albamonte E; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy.
  • Montes J; Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Glanzman AM; Division of Physical TherapyRehabilitation, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • Pasternak A; Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • De Sanctis R; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Young SD; Departments of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, CA 94305, USA.
  • Duong T; Departments of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, CA 94305, USA.
  • Mizzoni I; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS 00165 Rome, Italy.
  • Milev E; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Sframeli M; Unit of Neurodegenerative Disorders, Department of Clinical and Experimental Medicine, University Hospital of Messina, Messina, Italy.
  • Morando S; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy.
  • D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS 00165 Rome, Italy.
  • Catteruccia M; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS 00165 Rome, Italy.
  • Brolatti N; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy.
  • Pane M; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Scoto M; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Messina S; Unit of Neurodegenerative Disorders, Department of Clinical and Experimental Medicine, University Hospital of Messina, Messina, Italy.
  • Hirano M; Columbia University Irving Medical Center, New York, NY 10032, USA.
  • Zolkipli-Cunningham Z; Division of Human Genetics, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania, Philadelphia, PA 19104, USA.
  • Darras BT; Neuromuscular Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
  • Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Translational Paediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS 00165 Rome, Italy.
  • Bruno C; Center of Translational and Experimental Myology and Department of Neuroscience, Rehabilitation, Ophthalmology Genetics, Maternal and Child Health, IRCCS Istituto Giannina Gaslini and University of Genoa, 16132 Genoa, Italy.
  • Sansone VA; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy.
  • Salmin F; The NEMO Center in Milan, Neurorehabilitation Unit, University of Milan, ASST Niguarda Hospital, 20162 Milan, Italy.
  • Day J; Departments of Neurology and Clinical Neurosciences, Stanford University, Palo Alto, CA 94305, USA.
  • Baranello G; Department of Developmental Neuroscience, Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Pera MC; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Muntoni F; Department of Neurology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; School of Health and Sports Sciences, University of Suffolk, Ipswich IP4 1QJ, UK.
  • Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.
  • Mercuri E; Pediatric Neurology Unit, Catholic University, 00135 Rome, Italy.; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.. Electronic address: eugeniomaria.mercuri@unicatt.it.
Neuromuscul Disord ; : 104449, 2024 Aug 28.
Article in En | MEDLINE | ID: mdl-39299818
ABSTRACT
The Revised upper limb module (RULM) has been increasingly used in clinical trials and in clinical settings. The aim of this study was to use the 'shift analysis' to assess the patterns of lost or gained abilities for each item on the RULM in an untreated cohort, stratified by SMA type, age, SMN2 copy number, and motor functional status. The analysis was performed on 222 12-month paired assessments from 129 individuals (115 assessment from type II and 107 from type III) who had at least two assessments at yearly intervals. There was a loss of one or more activities in 54% in type II and in 29% type III. A gain of one or more activities was found in 42% type II and in 22% type III. There were concomitant gains and losses in 27% in SMA II and in 9% in SMA III. Our results, measuring the number of abilities that are lost or gained, provide an additional method of detecting changes that can be used for the interpretation of the longitudinal data collected in treated SMA individuals.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2024 Document type: Article Affiliation country: Italy Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2024 Document type: Article Affiliation country: Italy Country of publication: United kingdom