title: Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.
abstract: The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98. Correlations between HFMSE and forced vital capacity (percentage of predicted normal) (n = 56) and a functional rating (n = 57) were r = 0.87 and r = 0.92, respectively. Correlations with strength were as follows: knee extension, r = 0.74 (n = 60); elbow flexion, r = 0.77 (n = 61); and knee flexion, r = 0.74 (n = 58). The HFMSE differentiated patients by SMN2 copy number (P = .0007); bi-level positive airway pressure use, <8 versus ≥8 hours/day (P < .0001); ambulatory status (P < .0001); and spinal muscular atrophy type (P < .0001). The HFMSE demonstrates significant associations with established measures of function, strength, and genotype, and discriminates patients based on function, diagnostic category, and bi-level positive airway pressure need. Time of administration averaged 12 minutes. The HFMSE is a valid, time-efficient outcome measure for clinical trials in spinal muscular atrophy types II and III.
authors.affiliation: Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. glanzmana@email.chop.edu
authors.forename: Allan M
authors.initials: AM
authors.lastname: Glanzman
authors.forename: Jessica M
authors.initials: JM
authors.lastname: O'Hagen
authors.forename: Michael P
authors.initials: MP
authors.lastname: McDermott
authors.forename: William B
authors.initials: WB
authors.lastname: Martens
authors.forename: Jean
authors.initials: J
authors.lastname: Flickinger
authors.forename: Susan
authors.initials: S
authors.lastname: Riley
authors.forename: Janet
authors.initials: J
authors.lastname: Quigley
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Montes
authors.forename: Sally
authors.initials: S
authors.lastname: Dunaway
authors.forename: Liyong
authors.initials: L
authors.lastname: Deng
authors.forename: Wendy K
authors.initials: WK
authors.lastname: Chung
authors.forename: Rabi
authors.initials: R
authors.lastname: Tawil
authors.forename: Basil T
authors.initials: BT
authors.lastname: Darras
authors.forename: Darryl C
authors.initials: DC
authors.lastname: De Vivo
authors.forename: Petra
authors.initials: P
authors.lastname: Kaufmann
authors.forename: Richard S
authors.initials: RS
authors.lastname: Finkel
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004185:Disability Evaluation; D005260:Female; D006801:Humans; D007717:Knee / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009043:Motor Activity / Q000502:physiology*; D011237:Predictive Value of Tests; D011446:Prospective Studies; D015203:Reproducibility of Results; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis* / Q000503:physiopathology*; D018709:Statistics, Nonparametric; D014797:Vital Capacity / Q000502:physiology