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Discovering fragile X syndrome: family experiences and perceptions
Donald B Bailey1, Debra Skinner, Karen L Sparkman
1Frank Porter Graham Child Development Institute, University of North Carolina at Chapel Hill, 27599, USA. don_bailey@unc.edu
Insights
Discovering fragile X syndrome (FXS) in children takes too long, with diagnosis delayed by significant developmental concerns and professional confirmation. Earlier identification of FXS is challenging but crucial for families.
Area of Science:
- Genetics
- Developmental Pediatrics
- Medical Diagnostics
Background:
- Fragile X syndrome (FXS) is a leading genetic cause of intellectual disability and autism spectrum disorder.
- Timely diagnosis of FXS is crucial for accessing early intervention services and understanding reproductive risks.
- Current diagnostic pathways for FXS often involve significant delays, impacting families and affected individuals.
Purpose of the Study:
- To investigate family experiences with FXS diagnosis, including the timeline and barriers to identification.
- To explore factors influencing the timeliness of FXS diagnosis in children.
- To understand the perceived benefits and challenges associated with FXS diagnosis for families.
Main Methods:
- Surveys were administered to 274 families with at least one child diagnosed with FXS.
- Data collected included developmental concern onset, professional confirmation of delay, and FXS diagnosis age.
- Analysis focused on identifying barriers and facilitators to timely diagnosis and perceived consequences.
Main Results:
- For male children born in the last decade, developmental concern arose around 13 months, with diagnosis at 32 months on average.
- Families reported significant barriers and frustration throughout the diagnostic process.
- Some families had additional undiagnosed children with FXS, unaware of reproductive risks.
Conclusions:
- Pediatric practices can contribute to earlier FXS identification, but limitations exist.
- FXS and similar disorders present ongoing challenges for current newborn screening criteria.
- Improving diagnostic timeliness requires addressing systemic barriers and enhancing screening protocols.
Abstract:
We used surveys from 274 families who had at least 1 child with fragile X syndrome (FXS) to determine their experiences in discovering FXS, factors associated with the timeliness of discovery, and the perceived consequences of obtaining this information. For families of male children who were born in the last decade, someone first became concerned about the child's development at an average age of 13 months. Professional confirmation of a developmental delay did not occur until an average age of 21 months, and a FXS diagnosis occurred at an average age of nearly 32 months. Families reported several barriers to discovering FXS and frustration with the process. Many families had additional children with FXS without knowing reproductive risk. A range of perceived benefits and challenges associated with the discovery were reported. We conclude that selected pediatric practices could promote earlier identification but in only a limited way and predict that disorders such as FXS will continue to challenge current criteria for determining viable candidate disorders for newborn screening.