Publications by authors named "Stephanie Gilabert"

Article Synopsis
  • The study aimed to evaluate the Kinect's effectiveness in capturing the movement and posture of individuals with spinal muscular atrophy (SMA) while they performed tasks from the Motor Function Measure rating scale.
  • A multicenter feasibility study involved scoring participants' performances both by in-person therapists (Score-T) and through digital data visualization with Kinect (Score-D), to compare their agreements and disagreements.
  • Results showed only 31.7% agreement for SMA type 2 participants and 76.2% for type 3, suggesting that while Kinect can't reliably automate scoring, it may help identify compensatory movements in patients.
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Unlabelled: Spinal muscular atrophy (SMA) is a monogenic disorder caused by loss of function mutations in the survival motor neuron 1 gene, which results in a broad range of disease severity, from neonatal to adult onset. There is currently a concerted effort to define the natural history of the disease and develop outcome measures that accurately capture its complexity. As several therapeutic strategies are currently under investigation and both the FDA and EMA have recently approved the first medical treatment for SMA, there is a critical need to identify the right association of responsive outcome measures and biomarkers for individual patient follow-up.

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