A Parent-Response Screening Inventory for Fragile X Syndrome: Development & Testing with an International Sample
Vanessa A Johnson1, Yolanda M Powell-Young2, Bradley Brossman3
1Florida AtLantic University's Christine E. Lynn College of Nursing.
Insights
Parents can help detect Fragile X syndrome early. The Biopsychosocial Screening Inventory for Fragile X (BIPSSI-FX) is a new tool to help identify this common cause of intellectual disability in children.
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.
Abstract:
Fragile X syndrome, caused by a mutation in the FMR1 gene, is the most commonly inherited form of intellectual disability in children. Because the physical and early behavioral signs of Fragile X are often subtle, parents are often in the best position to advance early recognition and treatment. The Biopsychosocial Screening Inventory for Fragile X (BIPSSI-FX) was designed as an early detection parent-response inventory. A mixed-methods exploratory study of 886 caregivers, recruited from 22 countries across 5 continents, of children aged 1 through 18 years was used to refine a reliable and valid instrument.
