AI Article Synopsis
- Aicardi-Goutières syndrome is a genetic disorder that causes widespread neurological issues, with specific effects on fine and visual motor skills not well understood.
- A study involving 74 individuals utilized the Peabody Developmental Motor Scales-2 to assess fine and visual motor performance in relation to disease severity and genotype, revealing strong correlations between neurologic severity and motor skills.
- Findings indicated that the Peabody scales could effectively differentiate motor skill levels in varying degrees of the syndrome, providing insights that may improve clinical care and research approaches for affected individuals.
Article Abstract
Aicardi-Goutières syndrome is a genetic inflammatory disorder resulting in dispersed neurologic dysfunction. Despite a recognition of overall motor impairment, fine and visual motor skills are undercharacterized. We hypothesize that there is a spectrum of fine and visual motor skills in the Aicardi-Goutières syndrome population as captured by a standard outcome measure, the Peabody Developmental Motor Scales (PDMS-2), which will be proportional to overall disease severity.In a cohort of 74 subjects, the Peabody Developmental Motor Scales-2 grasping and visual-motor integration subtests were administered concurrently with the Aicardi-Goutières syndrome Severity Scale (severe [range 0-3], moderate [range 4-8], and attenuated [range 9-11]). The cohort was also compared by genotype and performance as defined by raw scores. The distribution of Peabody Developmental Motor Scales-2 scores within a genotype was assessed by interquartile ranges (IQRs).Peabody Developmental Motor Scales-2 grasping and visual-motor integration performance was the least variable in the -cohort (IQR: 10.00-12.00) versus the and cohorts (IQR: 51.00-132.00 and 48.50-134.00, respectively). Neurologic severity highly correlated with both fine and visual motor skills (Spearman correlation: = 0.87, 0.91, respectively). A floor effect (lowest 10% of possible scores) was observed within the severe cohort (n = 32/35), whereas a ceiling effect (top 10%) was observed in the attenuated cohort (n = 13/17).This study characterized the spectrum of fine and visual motor function in the Aicardi-Goutières syndrome population, which correlated with overall neurologic dysfunction. The Peabody Developmental Motor Scales-2 grasping and visual-motor integration showed promise as potential assessment tools in moderate and attenuated Aicardi-Goutières syndrome cohorts. A better understanding of fine and visual motor function in this population will benefit clinical care and clinical trial design.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11098691 | PMC |
| http://dx.doi.org/10.1177/08830738241241786 | DOI Listing |
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