To read the complete article by Merikle and others, please click here. 

No one understands Fragile X Syndrome better than the Fragile X community. By “community”, we mean individuals whose reality is FXS, whether it is because they have been diagnosed with it or as a person carrying the  premutation gene, or if they have a family member or care for someone living with FXS. Carers of people with FXS are an important voice in research as they are part of the stepping stones between research discoveries and clinical applications. Their experiences caring for people with FXS offer an insightful perspective to understanding the condition better, and without them sharing their observations, it would be impossible to know what therapies and interventions are effective and necessary. 

US-based researchers have incorporated the voices of caregivers of people living with FXS in the Aberrant Behavior Checklist Community (ABC-C) which  is an observer-reported outcome measure that captures many of the behavioral concerns associated with FXS  such as irritability, anxiety, and preference for solitary activities. Their  goal was to establish the content validity of the ABC-C FXS domain structure in parents/caregivers of children with FXS and determine whether it is fit-for-purpose for measuring treatment benefit in clinical studies of FXS.

The research involved a concept elicitation interview and a caregiver survey inviting carers of children living with FXS (aged 3-17) to express which behaviours they found to be the most and least challenging. Socially avoidant behaviours were the most reported (70% from the interview and 49% from the survey) followed by social unresponsiveness/lack of interaction (60% and 51%, respectively) and aggression (60% and 43%, respectively). Cognitive interviews showed that caregivers could understand and interpret the content and response options of the ABC-C FXS and deemed its content relevant to their experience.

While this research is commendable for featuring the lived observations of caregivers, it is also a reminder that we are only just beginning to lead FXS with real life experiences. We need to understand that behavior is closely interlinked with our surroundings such as culture, socio-economic background, gender, ability, age, and where we live around the world. While this result might be suitable to the US context, it could vary depending on region and cultural upbringing which is why more platforms across the globe need to start opening up opportunities for the FXS community to share their realities.