title: Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.
abstract: BACKGROUND
  With clinical trials underway, our objective was to construct a composite score of global function that could discriminate among people with spinal muscular atrophy (SMA).
  
  
  METHODS
  Data were collected from 126 participants with SMA types 2 and 3. Scores from the Hammersmith Functional Motor Scale-Expanded and Upper Limb Module were expressed as a percentage of the maximum score and 6-minute walk test as percent of predicted normal distance. A principal component analysis was performed on the correlation matrix for the 3 percentage scores.
  
  
  RESULTS
  The first principal component yielded a composite score with approximately equal weighting of the 3 components and accounted for 82% of the total variability. The SMA functional composite score, an unweighted average of the 3 individual percentage scores, correlated almost perfectly with the first principal component.
  
  
  CONCLUSIONS
  This combination of measures broadens the spectrum of ability that can be quantified in type 2 and 3 SMA patients.
authors.affiliation: Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York, 10032, USA.|Department of Rehabilitation and Regenerative Medicine, Columbia University Medical Center, New York, New York, USA.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Montes
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 Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Elena S
authors.initials: ES
authors.lastname: Mazzone
authors.affiliation: Department of Neurology, University of Rochester, Rochester, New York, USA.
authors.forename: William B
authors.initials: WB
authors.lastname: Martens
authors.affiliation: Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York, 10032, USA.
authors.forename: Sally
authors.initials: S
authors.lastname: Dunaway
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: Susan O
authors.initials: SO
authors.lastname: Riley
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 Neurology, University of Rochester, Rochester, New York, USA.
authors.forename: Shree
authors.initials: S
authors.lastname: Pandya
authors.affiliation: Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York, 10032, USA.
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
authors.affiliation: Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York, 10032, USA.
authors.forename: Petra
authors.initials: P
authors.lastname: Kaufmann
authors.affiliation: Department of Neurology, Columbia University Medical Center, 180 Ft. Washington Avenue, Fifth Floor, New York, New York, 10032, USA.
authors.forename: Claudia A
authors.initials: CA
authors.lastname: Chiriboga
authors.affiliation: Division of Neurology, Nemours Children's Hospital, Orlando, Florida, USA.
authors.forename: Richard S
authors.initials: RS
authors.lastname: Finkel
authors.affiliation: Division of Neurology, Children's Hospital of Philadelphia and Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
authors.forename: Gihan I
authors.initials: GI
authors.lastname: Tennekoon
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 Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Marika
authors.initials: M
authors.lastname: Pane
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
authors.affiliation: Department of Neurology, University of Rochester, Rochester, New York, USA.|Department of Biostatistics and Computational Biology, University of Rochester, Rochester, New York, USA.
authors.forename: Michael P
authors.initials: MP
authors.lastname: Mcdermott
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D009068:Movement / Q000502:physiology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000503:physiopathology*; D025341:Principal Component Analysis; D011446:Prospective Studies; D012720:Severity of Illness Index; D034941:Upper Extremity / Q000503:physiopathology; D016138:Walking / Q000502:physiology; D055815:Young Adult
keywords: SMA; clinical trial; composite score; motor function; outcome measure; spinal muscular atrophy