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The NFXF is pleased to see the recent publication of “Newborn, Carrier, and Early Childhood Screening Recommendations for Fragile X” in the prestigious “Pediatrics: Official Journal of the American Academy of Pediatrics.” At the urging of the CDC, and with their support, the NFXF’s genetics specialist, Liane Abrams, organized and contributed to a year-long effort, bringing together many of the Fragile X professionals community’s top specialists from both within and outside of the Fragile X Clinical & Research Consortium (FXCRC). Understanding screening issues and challenges is crucial to advancing the Fragile X field as it relates to diagnosis and treatment. The NFXF is honored to have played a role in advancing this important discussion.
From the introduction/abstract: “The importance of early diagnostic and management issues, in conjunction with the identification of family members at risk for or affected by FMR1 mutations, has led to intense discussion about the appropriate timing for early identification of FMR1 mutations. This review includes an overview of the fragile X–associated disorders and screening efforts to date, and discussion of the advantages and barriers to FMR1 screening in newborns, during childhood, and in women of reproductive age. Comparison with screening programs for other common genetic conditions is discussed to arrive at action steps to increase the identification of families affected by FMR1 mutations.”
From the Conclusion and recommendations: To more accurately quantify and begin to ameliorate the significant public health burden of FMR1 mutations, we propose the goals of increasing the identification of families affected by FMR1 mutations and of lowering the age of identification of children with FXS. Toward that end, we propose the following action steps: