title: Old measures and new scores in spinal muscular atrophy patients.
abstract: BACKGROUND
  A recent Rasch analysis performed on the Hammersmith Functional Motor Scale-Expanded (HFMSE) in patients with spinal muscular atrophy (SMA) identified issues impacting scale validity, redundant items, and disordered thresholds on some items.
  
  
  METHODS
  We modified the HMFSE scoring based on the Rasch analysis and on expert consensus to establish whether the traditional scoring overestimated the number of patients with changes within 2 points from baseline. Data were collected retrospectively from multicenter data sets in 255 type 2 and 3 SMA patients.
  
  
  RESULTS
  The mean 12-month changes using the new and the traditional scoring system did not differ significantly (P > 0.05). The numbers of patients who improved or decreased by >2 points were also similar.
  
  
  CONCLUSIONS
  The presence of outliers using the traditional scoring system was not due to overestimation of changes in activities that were tested bilaterally or to discrepancies in the scoring hierarchy of individual items.
authors.affiliation: Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Mazzone
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, USA.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Montes
authors.affiliation: Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
authors.forename: Marion
authors.initials: M
authors.lastname: Main
authors.affiliation: Institute of Genetic Medicine, Newcastle University, Newcastle, UK.
authors.forename: Anna
authors.initials: A
authors.lastname: Mayhew
authors.affiliation: Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
authors.forename: Danielle
authors.initials: D
authors.lastname: Ramsey
authors.affiliation: Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
authors.forename: Allan M
authors.initials: AM
authors.lastname: Glanzman
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, USA.
authors.forename: Sally
authors.initials: S
authors.lastname: Dunaway
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, USA.
authors.forename: Rachel
authors.initials: R
authors.lastname: Salazar
authors.affiliation: Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Pasternak
authors.affiliation: Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Janet
authors.initials: J
authors.lastname: Quigley
authors.affiliation: Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
authors.forename: Marika
authors.initials: M
authors.lastname: Pane
authors.affiliation: Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
authors.forename: Maria C
authors.initials: MC
authors.lastname: Pera
authors.affiliation: Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
authors.forename: Mariacristina
authors.initials: M
authors.lastname: Scoto
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Sframeli
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Adele
authors.initials: A
authors.lastname: D'amico
authors.affiliation: Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Marleen
authors.initials: M
authors.lastname: Van Den Hauwe
authors.affiliation: Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Sivo
authors.affiliation: Department of Child Neurology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Goemans
authors.affiliation: Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
authors.forename: Basil T
authors.initials: BT
authors.lastname: Darras
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, USA.
authors.forename: Petra
authors.initials: P
authors.lastname: Kaufmann
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, USA.
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
authors.affiliation: Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.affiliation: Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, Florida, USA.
authors.forename: Richard
authors.initials: R
authors.lastname: Finkel
authors.affiliation: Department of Paediatric Neurology, Catholic University, Largo Gemelli 8, 00168, Rome, Italy.|Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, UK.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009134:Muscular Atrophy, Spinal / Q000503:physiopathology; D011594:Psychometrics; D012189:Retrospective Studies; D012720:Severity of Illness Index; D014897:Spinal Muscular Atrophies of Childhood / Q000503:physiopathology*; D055815:Young Adult
keywords: Rasch analysis; neuromuscular; outcome measures; scoring; spinal muscular atrophy