NIH Research Festival
Introduction: Neuromuscular disorders (NMD) refer to a group of genetic diseases causing significant muscle weakness, impairing early motor development. Research Question: To develop a novel parent-reported outcome measure of young children that is developmentally appropriate, noninvasive and responsive to changes in motor function. Research Design/Methods: 17 parents were interviewed via phone using the Grounded Theory Method for qualitative interviews. Major themes were identified regarding motor function in young children with NMD. These themes were presented to a focus group of 11 experts in NMD. The focus group recommended concepts and items for the new scale. The items were then processed using Delphi methodology. Experts rated the importance of each potential item based on a Likert scale from 1 to 7 (with 1 indicating “very unimportant”, 4 indicating “neutral” and 7 indicating “very important”). Agreement meant a median agreement score of ≥5, with at least 80% of the experts giving a score of ≥5 and disagreement as more than 30%. Results: Major themes were identified from the qualitative interviews. The focus group used these major themes to identify concepts for items. Based on the input from the focus group, 121 items were created. Initial results of the Delphi method showed expert consensus on 33 items and disagreement on 88 items. Conclusion: Major themes regarding motor function in young children with NMD have been identified. Additional iterations of the Delphi is completed. These items will be chosen for the final scale administered to at least 100 parents to test reliability and validity.
Scientific Focus Area: Genetics and Genomics
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