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Hierarchy of Motor Control01:18

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The hierarchy of motor control refers to the different levels of organization and processing involved in controlling movement in the body. These levels range from higher cortical areas involved in planning and decision-making to lower spinal cord reflexes that respond automatically to external stimuli.
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Gross Motor Function in Individuals With SCN2A-Related Disorders: The Clinical Trial Readiness Study.

Anne T Berg1,2, Aaron J Kaat3, Katherine Paltell4

  • 1FamilieSCN2A Foundation, Longmeadow, MA.

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Gross motor function in SCN2A-RDs is severely impaired, making standardized scores inadequate. Alternative scoring methods like GSVs show promise for measuring function in precision medicine trials for SCN2A-RDs.

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Methods to Quantify Pharmacologically Induced Alterations in Motor Function in Human Incomplete SCI
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Area of Science:

  • Neuroscience
  • Genetics
  • Clinical Trials

Background:

  • SCN2A-related disorders (SCN2A-RDs) cause severe impairments, including gross motor deficits.
  • Gross motor function is a potential nonseizure outcome for precision medicine trials.

Purpose of the Study:

  • Evaluate the suitability of the Vineland Adaptive Behavior Scales-3 (VABS3) and other motor assessments for SCN2A-RD trials.
  • Identify reliable outcome measures for assessing motor function in this population.

Main Methods:

  • A 1-year longitudinal study involving 65 children with SCN2A-RDs.
  • Administered VABS3, ABAS, FMS, and FAQ-WL at baseline, 6, and 12 months.

Main Results:

  • Standardized VABS3 motor scores showed significant floor effects and poor discrimination.
  • Raw VABS3 and ABAS scores, and VABS3 GSVs, demonstrated better discrimination and fewer floor effects.
  • No significant changes in motor scores were observed over the 1-year study period.

Conclusions:

  • Standardized motor assessments are inadequate for measuring gross motor function in SCN2A-RDs due to severe impairment.
  • Growth Scale Values (GSVs) and alternative scoring methods show promise for future SCN2A-RD clinical trials.