A Parent-Response Screening Inventory for Fragile X Syndrome: Development & Testing with an International Sample

Area of Science:

• Genetics and Developmental Pediatrics
• Child Psychology and Behavioral Science

Background:

• Fragile X syndrome is the most common inherited cause of intellectual disability in children.
• Genetic mutations in the FMR1 gene lead to Fragile X syndrome.
• Early recognition and intervention are crucial for managing Fragile X syndrome, but subtle early signs can delay diagnosis.

Purpose of the Study:

• To develop and refine a reliable and valid parent-response screening tool for early detection of Fragile X syndrome.
• To create the Biopsychosocial Screening Inventory for Fragile X (BIPSSI-FX) for use by caregivers.
• To facilitate earlier identification and treatment of children with Fragile X syndrome.

Main Methods:

• A mixed-methods exploratory study was conducted with 886 caregivers of children aged 1-18 years.
• Participants were recruited internationally from 22 countries across 5 continents.
• The study focused on refining the BIPSSI-FX instrument through caregiver responses.

Main Results:

• The study successfully refined the Biopsychosocial Screening Inventory for Fragile X (BIPSSI-FX).
• The refined BIPSSI-FX demonstrated reliability and validity as a parent-response inventory.
• The instrument is designed for early detection of Fragile X syndrome by caregivers.

Conclusions:

• The BIPSSI-FX is a valuable tool for parents to aid in the early recognition of Fragile X syndrome.
• Empowering parents with screening tools can improve early detection rates for this common intellectual disability.
• Further use of BIPSSI-FX can support timely intervention and management for affected children.