PURPOSE: Preliminary validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) for motor skill assessment in spinal muscular atrophy type I. METHODS: A total of 27 subjects 3 to 260 months old (mean = 49, SD = 69) with spinal muscular atrophy-I were evaluated with the CHOP INTEND. Subjects were evaluated as part of a multicenter natural history study. RESULTS: CHOP INTEND scores and age were significantly correlated (r = -0.51, P = .007; 2 survival of the motor neuron [SMN] 2 gene copies, n = 16, r = -0.60, 3 SMN2 gene copies, n = 9, r = -0.83). Respiratory support and CHOP INTEND scores were correlated (r = -0.74, P < .0001, n = 26). The CHOP INTEND and age regression in patients with 2 copies versus 3 copies of SMN2 approached significance (P = .0711, n = 25). Subjects who required respiratory support scored significantly lower (mean = 15.5, SD = 10.2 vs mean = 31.2, SD = 4.2, P < .0001, n = 27). Correlation with motor unit number estimation and combined motor unit activation were not significant. CONCLUSION: The CHOP INTEND reflects measures of disease severity and supports continued exploration of the CHOP INTEND.
PURPOSE: Preliminary validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) for motor skill assessment in spinal muscular atrophy type I. METHODS: A total of 27 subjects 3 to 260 months old (mean = 49, SD = 69) with spinal muscular atrophy-I were evaluated with the CHOP INTEND. Subjects were evaluated as part of a multicenter natural history study. RESULTS:CHOP INTEND scores and age were significantly correlated (r = -0.51, P = .007; 2 survival of the motor neuron [SMN] 2 gene copies, n = 16, r = -0.60, 3 SMN2 gene copies, n = 9, r = -0.83). Respiratory support and CHOP INTEND scores were correlated (r = -0.74, P < .0001, n = 26). The CHOP INTEND and age regression in patients with 2 copies versus 3 copies of SMN2 approached significance (P = .0711, n = 25). Subjects who required respiratory support scored significantly lower (mean = 15.5, SD = 10.2 vs mean = 31.2, SD = 4.2, P < .0001, n = 27). Correlation with motor unit number estimation and combined motor unit activation were not significant. CONCLUSION: The CHOP INTEND reflects measures of disease severity and supports continued exploration of the CHOP INTEND.
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Authors: Kristin J Krosschell; Michael Bosch; Leslie Nelson; Tina Duong; Linda P Lowes; Lindsay N Alfano; Danielle Benjamin; Terri B Carry; Ginger Devine; Carolyn Kelley; Rebecca Gadekan; Elizabeth C Malkus; Amy Pasternak; Stephanie Provance-Orr; Lynne Roemeiser-Logan; Alina Nicorici; Donata Trussell; Sally Dunaway Young; Jennifer R Fetterman; Jacqueline Montes; Penny J Powers; Rebecca Quinones; Janet Quigley; Christopher S Coffey; Jon W Yankey; Amy Bartlett; John T Kissel; Stephen J Kolb Journal: J Neuromuscul Dis Date: 2018