FAMILY ADAPTATION TO NEWBORN SCREENING FOR FRAGILE X SYNDROME

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A. SPECIFIC AIMS Fragile X syndrome (FXS) is the most common inherited form of intellectual disability. However, because phenotypic features are not evident at birth, FXS must be discerned through abnormalities in development or behavior. Parents typically go through an extended "odyssey" before FXS is diagnosed (Bailey, Skinner, Hatton, & Roberts, 2000; Bailey, Skinner, & Sparkman, 2003). The average age of diagnosis is 32-36 months for full mutation males, and usually later for girls, since females are more mildly affected. As a result, children miss the opportunity to participate in early intervention and parents often have additional children with FXS without knowing reproductive risk. Newborn screening would provide parents the opportunity to learn about their child's FXS status and their own reproductive risk, in addition to other likely benefits (Bailey, 2004; Bailey, Skinner, & Warren, 2005; Bailey, Beskow, Davis, & Skinner, 2006). However, concerns have been raised, including lack of a treatment, consent issues, possible parent anxiety or disrupted parent-child relations, carrier disclosure, and limited state capacity to support families (Bailey et al., accepted pending minor revisions). Thus newborn screening for FXS is controversial. Parents report frustration with professionals and the health care system, consider advantages of screening more likely than disadvantages, and have a broad view of "benefit" and "treatment" (Bailey et al., 2006; Bailey, Skinner, & Sparkman, 2003; Skinner, Sparkman, & Bailey, 2003). These and other studies (e.g., Campbell & Ross, 2003; Davidson et al., 2000; Helton et al., 1991; Whitehead & Strange, 2006) show that parents strongly support voluntary expanded newborn screening. However, professionals generally insist on screening only for conditions with clear medical treatments that improve health outcomes (Botkin et al., 2006; Natowicz, 2005). Professional organizations oppose carrier testing for infants, arguing that screening should only be done if there is proven medical benefit to the infant (American Academy of Pediatrics, 2000; ASHG/ACMG, 1995). Fragile X syndrome is an excellent prototype for studying issues that will arise in an era of technical capacity for greatly expanded newborn screening. Project 3 focuses on family adaptation to newborn screening for FXS. The study will provide important information about the consequences of screening for both carriers and children with the full mutation FXS.