Functional Abilities In Aicardi Goutières Syndrome: An Exploratory Study

Abstract

<h3>Research Objectives</h3> To characterize the feasibility of mainstream outcome measures in a cohort of children with clinical and genetic diagnosis of AGS. To determine the performance and existence of possible floor effect with mainstream outcomes in children with AGS. To evaluation the cognitive abilities of children with AGS and determine how this influences motor performance. <h3>Design</h3> Prospective study- Francesco will need to add. <h3>Setting</h3> Children were evaluated by providers trained in the administration of Gross Motor Function Measure-88 (GMFM-88), Leiter International Scales 3rd edition, and parent-reported measure (Vineland Adaptive Behavior Scale 3rd edition, VABS-3). All cognitive evaluations occurred in person, while motor function and adaptive behavior abilities were assessed with hybrid in-person/remote evaluations, due to COVID-19 pandemic constrains in travel. <h3>Participants</h3> Eighty individuals with a clinical and molecular diagnosis of AGS <h3>Interventions</h3> None. <h3>Main Outcome Measures</h3> GMFM-88, Leiter International Scales 3rd edition, VABS-3. <h3>Results</h3> Patients showed severe gross motor impairment, with floor effect performance at the GMFM-88. Impaired performance of motor abilities and daily living skills was observed at the VABS-3, while social abilities were relatively spared. The evaluation of the non-verbal cognitive abilities bypassed the limited verbal expression of our population and showed a less striking floor effect when compared pure motor evaluations. <h3>Conclusions</h3> Non-verbal cognitive evaluations and adaptive behavior evaluations appeared to be able to describe the performance of children with AGS while the severe motor impairment makes challenging the administration of commonly used gross motor assessments such as the GMFM-88. The identification of outcome measures tailored on populations with rare disorders has the potential to be helpful in clinical prognostication as well as cohort selection for future clinical trials. <h3>Author(s) Disclosures</h3> None.