Abstracts

This is a Late Breaking abstract

Rationale: Individuals with rare neurodevelopmental disorders experience severe functional impairments. Many traditional, standardized outcome measures have floor effects and lack the sensitivity to capture meaningful change in the most severely impacted. As new therapies are being developed for developmental and epileptic encephalopathies (DEE), it is critical to consider how existing outcome measures can be adapted to embrace the heterogeneity of disease expression across the full spectrum of severity. This study explored the feasibility of using Goal Attainment Scaling (GAS), a patient-centric outcome measure, to capture clinically meaningful change in severely impacted children with SCN2A-DEE.  

Methods: Four interviewers were trained on GAS methods. In addition, caregivers were asked to watch a short video outlining the GAS process. In preparation for the study, an inventory of 26 potential goal areas was developed and made available to the GAS raters and participating caregivers. Caregivers of young people with SCN2A took part in an initial goal-setting interview with a trained GAS rater to identify meaningful goal areas related to the participant’s condition. Goals were then developed on a 5-point scale with the baseline status set at the -1 level and the goal at the 0 level. Additional improvements were set at +1 and +2 and possible deterioration at -2. Goals could then be ranked in order of importance. Remote follow-up interviews were scheduled approximately one to two months later to rate goal attainment. Interviewers were also asked to provide feedback about their experience of the GAS method.

Results: Ten participants (M_age=8.2 years, SD=5.62, range 3.4-20.4; N_male =8) and their caregivers took part in goal-setting interviews with four GAS raters. All participants set three goals (the recommended minimum). The mean (standard deviation) time to conduct the interviews was 59.4 (14.5) minutes (Figure 1). Of the 30 goals set, 21 were selected from the goal inventory and nine were personalized. The participants set a wide variety of goals, with the most frequent concerns being communication (7 goals), eating (4), and toileting (3) (Figure 2). Four remote follow-up interviews have been conducted to date to rate goal attainment and others are ongoing. Feedback from the participating interviewers about the feasibility of the GAS process is being collected.

Conclusions: Evaluating health outcomes in children with rare neurodevelopmental disorders is challenging due to varying levels of functional impairment. There is a critical need for sensitive and valid measures to embrace the range and complexity of disease in this population. In this pilot, during a clinician-facilitated baseline interview, participants each specified three goals with detailed GAS scales and ranked them by importance to them. This allowed participants to prioritize measurable outcomes at the individual level. These early data suggest that Goal Attainment Scaling may offer a feasible, family-centered approach to capturing the patient experience and meaningful change in children most severely impacted by DEEs.

Funding: The Inchstone Project (Wishes for Elliott), FamilieSCN2A Foundation