Publications by authors named "Jessica O'Hagen"
Objectives: Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I).
Methods: Patients were enrolled at 3 study sites and followed for up to 36 months with serial clinical, motor function, laboratory, and electrophysiologic outcome assessments. Intervention was determined by published standard of care guidelines.
Objective: To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning.
Methods: We conducted a prospective observational cohort study of 79 children and young adults with SMA 2/3 who participated in evaluations for up to 48 months. Clinically, we evaluated motor and pulmonary function, quality of life, and muscle strength.
Weakness resulting from spinal muscular atrophy causes severe limitations in functional mobility. The early introduction of power mobility has potential to enhance development and mitigate disability. These outcomes are achieved by simulating normal skill acquisition and by promoting motor learning, visuospatial system development, self-exploration, cognition, and social development.
View Article and Find Full Text PDFPurpose: 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.
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.
View Article and Find Full Text PDFObjective: To characterize the short-term course of spinal muscular atrophy (SMA) in a genetically and clinically well-defined cohort of patients with SMA.
Design: A comprehensive multicenter, longitudinal, observational study.
Setting: The Pediatric Neuromuscular Clinical Research Network for SMA, a consortium of clinical investigators at 3 clinical sites.
Article Synopsis
- - The study aimed to improve the Hammersmith Functional Motor Scale by creating an expanded version to better evaluate ambulatory patients with spinal muscular atrophy (SMA) types II and III.
- - Researchers tested 38 SMA patients using both the new scale and the Gross Motor Function Measure, ultimately selecting 13 items to enhance the Hammersmith scale and confirming its reliability and correlation with existing assessment tools.
- - The expanded scale demonstrated strong reliability and a high correlation with established measures, indicating it’s suitable for assessing higher functioning SMA patients and can be used in future clinical trials for SMA.