Exploration of Gross Motor Function in Aicardi-Goutières Syndrome

Background: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by a spectrum of motor abilities. While the Aicardi-Goutières syndrome severity score favors severely impacted individuals, there is an unmet need to define tools measuring function across the Aicardi-Goutières syn...

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Published in:Journal of child neurology 2023-08, Vol.38 (8-9), p.518-527
Main Authors: Gavazzi, Francesco, Glanzman, Allan M., Woidill, Sarah, Formanowski, Brielle, Dixit, Agrani, Isaacs, David, Kornafel, Tracy, Ballance, Elizabeth, Pierce, Samuel R., Modesti, Nicholson, Barcelos, Isabella, Cusack, Stacy V., Jan, Amanda K., Flores, Zaida, Sherbini, Omar, Vincent, Ariel, D’Aiello, Russell, Lorch, Scott A., DeMauro, Sara B., Jawad, Abbas, Vanderver, Adeline, Adang, Laura
Format: Article
Language:English
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Summary:Background: Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by a spectrum of motor abilities. While the Aicardi-Goutières syndrome severity score favors severely impacted individuals, there is an unmet need to define tools measuring function across the Aicardi-Goutières syndrome spectrum as potential outcome assessments for future clinical trials. Methods: Gross Motor Function Measure–88 (GMFM-88) and AGS Severity Scale were administered in individuals affected by Aicardi-Goutières syndrome (n = 71). We characterized the performance variability by genotype. Derived versions of the GMFM-88, including the GMFM-66, GMFM-66 item set (GMFM-66IS), and GMFM-66 Basal&Ceiling (GMFM-66BC) were calculated. The Aicardi-Goutières syndrome cohort was divided into severe (AGS Severity Scale score
ISSN:0883-0738
1708-8283
DOI:10.1177/08830738231188753