Functional abilities in Aicardi Goutières Syndrome: an exploratory study

Thursday, November 10, 2022

4:05 PM – 4:15 PM

Location: Station 10

Pediatric Rehabilitation NG Poster Award

Presenting Author(s)

Stacy V. Cusack, MSOT/OTR/L

Senior Occupational Therapist
Children's Hospital of Philadelphia
Williamstown, New Jersey, United States
Francesco Gavazzi, MD, PhD (he/him/his)

Research Scientist
Neurology Department, Children's Hospital of Philadelphia, Philadelphia (PA)
Philadelphia, Pennsylvania, United States

Non-presenting Author(s)

Sarah H. Evans, MD, Professor, Clinical Pediatrics and Physical Medicine and Rehabilitation

Chief, Rehabilitation Medicine
Childrens Hospital of Philadelphia
Philadelphia, Pennsylvania, United States

Research Objectives: 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.

Design: Prospective study- Francesco will need to add

Setting: 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.

Participants: Eighty individuals with a clinical and molecular diagnosis of AGS

Interventions: None

Main Outcome Measures: GMFM-88, Leiter International Scales 3rd edition, VABS-3

Results: 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.

Conclusions: 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.

Author(s) Disclosures: Stacy Cusack- no Disclosures to report

Learning Objectives:

Upon completion participants will be able to describe the cognitive abilities of patients with an AGS diagnosis as assessed on the Leiter International Scale.
Upon completion participants will be able to describe the motor performance assessed using the GMFM-88 in patients with AGS.
Upon completion participants will be able to describe how cognitive and motor performance effect functional abilities and success with patients with AGS.