Developing improved outcome measures in FXS: Key stakeholder feedback.

BACKGROUND: There is a critical need for the development of improved outcome measures in Fragile X Syndrome (FXS). Because the majority of respondents of behavior outcome measures are caregivers or individuals with FXS, it is important to consider stakeholders' firsthand experiences when designing a caregiver- or self-report measure. AIMS: The current research study aimed to understand experiences of completing commonly used caregiver-/self-report measures of behavior in FXS via focus groups. METHODS AND PROCEDURES: This study employed a focus group methodology. Semi-structured focus groups were conducted with 22 caregivers and 3 self-advocates. All interviews occurred via secured videoconferencing. A thematic analysis was used to identify major themes and subthemes. OUTCOMES AND RESULTS: We identified four themes: (1) content of measure, (2) structure of the measure, (3) potential accommodations to complete measure, and (4) impact of measure on family. Importantly, focus groups revealed that certain aspects of content, structure, and implementation of the available measures were related to distress and negative emotions of caregivers of FXS and individuals with FXS themselves. CONCLUSIONS AND IMPLICATIONS: The focus group data yielded a wide range of feedback and has significant implications, highlighting the critical need to take key stakeholder perspectives into account when using and/or developing caregiver- or self-report measures for FXS.

Behavioral inflexibility in fragile X syndrome: Accounts from caregivers and self-advocates.

Introduction: Behavioral difficulties in individuals with fragile X Syndrome (FXS) are one of the primary reasons families seek medical and psychological support. Among these, behavioral inflexibility is very common, and when left untreated, can negatively impact quality of life for the individuals with FXS and their families. Behavioral inflexibility refers to the difficulty in changing one's behaviors based on environmental demands or social contexts, thus impeding daily functioning, opportunities for learning, and social interactions. In addition to the individual and family impact, behavioral inflexibility is often recognized as a defining phenotype of FXS and appears to be specific to FXS when compared to other genetic forms of intellectual disability. Despite the pervasiveness and severity of behavioral inflexibility in FXS, there are limited measures that adequately assess behavioral inflexibility in FXS. Methods: We conducted semi-structured virtual focus groups with 22 caregivers, 3 self-advocates, and 1 professional to gather key stakeholders' perspectives on and experiences of inflexible behavior observed in FXS. Audio-recordings from focus groups were transcribed using NVivo, then verified and coded. Two trained professionals reviewed codes to extract primary themes. Results: Six themes were extracted: (1) Intolerance of change, (2) Intolerance to uncertainty, (3) Repetitive interests and behaviors, (4) Family impact, (5) Change in behavior across the lifespan, and (6) Impact of the COVID pandemic. Our findings show common examples of these themes included intolerance to disruption to routine, perseverative questioning, watching the same things over and over, and caregivers having to extensively pre-plan for events. Discussion: The purpose of the current study was to gain key stakeholders' perspectives via focus groups to elicit information and understand patterns of inflexible behaviors in FXS, with the goal of developing a disorder-specific measure to accurately assess behavioral inflexibility across the lifespan and in response to treatment. We were able to capture several phenotypic examples of behavioral inflexibility in FXS as well as their impact on individuals with FXS and their families. The wealth of information gained through our study will aid in our next steps of item generation for measure development of Ratings of Inflexibility in Genetic Disorders associated with Intellectual Disability - Fragile X Syndrome (RIGID-FX).