Newborn Screening for Fragile X Syndrome and Other Developmental Disabilities

Newborn Screening for Fragile X Syndrome and Other Developmental Disabilities


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Archived Recording
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Tuesday, October 22, 2019
3:00 p.m. - 4:00 p.m. ET
Location: Webinar

About this Webinar

Most professional believe that early intervention (EI) is essential to improving outcomes for children with intellectual and developmental disabilities (IDD) and their families. But how early is “early?” Should screening identify newborns with IDD, even before symptoms appear? Is there value in “pre-symptomatic” EI for children or families? Are pre-symptomatic treatments powerful enough to alter developmental trajectories in meaningful ways? Using fragile X syndrome to exemplify these issues, this presentation describes Early Check, a research program in which screening newborns for several disorders is offered to 120,000 families per year. Dr. Bailey will discuss the rationale and processes underlying Early Check, report results after eight months, and describe an EI study to test the benefits of early detection. Many other causes of IDD could be detected through newborn screening. Do we need to prove the benefits of newborn screening and EI for each condition separately? When (if ever) will we have enough data to argue that the benefits of EI have been sufficiently demonstrated across IDD conditions, to warrant newborn screening for all? These questions are at the heart of policy decisions and pose a significant challenge for EI researchers in the coming decade.

A Webinar from AUCD's Early Childhood Special Interest Group.


Don Baiely, Ph.D. , is internationally known as an expert on young children with disabilities. For 27 years, he was on the faculty of the University of North Carolina at Chapel Hill where he was a W.R. Kenan, Jr. Distinguished Professor and, for 14 years, director of the Frank Porter Graham Child Development Institute. Dr. Bailey's research addresses early identification and early intervention for children with disabilities, as well as family adaptation to disability. For 20 years, his work has focused on children with fragile X syndrome, the leading inherited cause of intellectual impairment, and their families. He has an extensive record of publications on a wide variety of topics related to newborn screening, early intervention, disability, and family support. Currently, he directs several projects funded by the National Institutes of Health on newborn screening and broader issues surrounding the ethical, legal, and social consequences of genetic discoveries and the disclosure of genetic information to families. He and his team have developed a partnership with the North Carolina State Laboratory of Public Health, and have secured funds to help the newborn screening program conduct pilot studies and research. He has also developed a partnership with the Altino Ventura Foundation in Recife, Brazil, to develop a longitudinal study of children with congenital Zika syndrome and their families.