The Impact of Fragile X Syndrome on Caregivers: A Systematic Review

The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well-being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research.

This review was conducted in accordance with PRISMA guidelines. A thorough search of electronic databases was performed to identify relevant original research. Two reviewers independently screened the studies for eligibility, and the quality of included studies was evaluated using the CASP tool. Key data were extracted, and a narrative synthesis was used to summarise and interpret the findings.

Twenty studies involving 3474 caregivers of children, adolescents and adults with FXS were included in this review. Thirteen studies were conducted in the United States, with additional research in the United States and Canada, Italy, France, the Netherlands and Australia. Female caregivers were the primary participants in most studies. Six primary factors were identified as shaping caregivers' experiences: care-recipients' age and gender, caregivers' characteristics, disease-related factors, compromised caregiver psychological well-being, disrupted family dynamics and limited support systems or unmet needs. Challenging behaviours in individuals with FXS consistently emerge as the factor exerting the greatest influence on caregivers' psychological and practical burden.

Caring for individuals with FXS places substantial burdens on caregivers, influenced by patient behaviour, family dynamics and limited support. Targeted, multidisciplinary interventions are needed to address these gaps and improve both caregiver well-being and care outcomes.