This application requests funds for an Exploratory/ Developmental grant to design and prepare to implement a large multi-state study of infants with fragile X syndrome and their families. Based on a period of universal screening of approximately 1,000,000 newborns for FXS in selected states, the study would be designed to answer eight sets of research questions: (1) What is the incidence rate of FXS in the U.S.? Does this rate vary as a function of ethnicity? (2) How acceptable to the public is screening for FXS? What proportion of parents voluntarily participate in screening? What characteristics differentiate parents who choose not to participate? (3) What is the relative effectiveness and acceptability of different models for informing families about FXS status and supporting them in gaining information about the disorder and reproductive risk? (4) Does the bonding and attachment relationship between parents of children with FXS differ from that of parents of normally developing children or children with non-heritable disorders? (5) How does knowledge of reproductive risk affect subsequent reproductive decisions of parents of children with FXS? (6) What patterns of development characterize infants and toddlers with FXS? How do these patterns vary as a function of factors such as FMRP, physiological variables, SES, gender, and autism? (7) What is the efficacy of contrasting models of early intervention for children with FXS and their families? Does treatment efficacy vary in accordance with the severity and nature of disability? and (8) What patterns of coping and adaptation characterize families of children with FXS during the early years? How do these patterns vary as a function of child, parent, family, and ecological variables? A multi-university, multi-disciplinary team of investigators and consultants will determine the participating states and develop state-based planning teams; determine the laboratory procedure to be used for screening; identify and address a range of ethical and practical issues; develop a protocol and procedures for genetic counseling, family support, studies of family adaptation, studies of infant development, and studies of the efficacy of child and family intervention models; work with an array of agencies, organizations, and individuals to garner widespread support for the project and its implementation; and develop the infrastructure necessary to implement the study.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Exploratory/Developmental Grants (R21)
Project #
5R21HD043616-02
Application #
6758638
Study Section
Pediatrics Subcommittee (CHHD)
Project Start
2003-07-01
Project End
2006-04-30
Budget Start
2004-05-01
Budget End
2005-04-30
Support Year
2
Fiscal Year
2004
Total Cost
$217,614
Indirect Cost
Name
University of North Carolina Chapel Hill
Department
Pediatrics
Type
Schools of Medicine
DUNS #
608195277
City
Chapel Hill
State
NC
Country
United States
Zip Code
27599
Kemper, Alex R; Bailey Jr, Donald B (2009) Pediatricians' knowledge of and attitudes toward fragile X syndrome screening. Acad Pediatr 9:114-7
Bailey Jr, Donald B; Armstrong, F Daniel; Kemper, Alex R et al. (2009) Supporting family adaptation to presymptomatic and ""untreatable"" conditions in an era of expanded newborn screening. J Pediatr Psychol 34:648-61
Bailey Jr, Donald B; Skinner, Debra; Davis, Arlene M et al. (2008) Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics 121:e693-704
Whitmarsh, Ian; Davis, Arlene M; Skinner, Debra et al. (2007) A place for genetic uncertainty: parents valuing an unknown in the meaning of disease. Soc Sci Med 65:1082-93
Bailey Jr, Donald B; Beskow, Laura M; Davis, Arlene M et al. (2006) Changing perspectives on the benefits of newborn screening. Ment Retard Dev Disabil Res Rev 12:270-9
Bailey Jr, Donald B; Skinner, Debra; Warren, Steven F (2005) Newborn screening for developmental disabilities: reframing presumptive benefit. Am J Public Health 95:1889-93