Increasing Access to Services for Families of Infants with Fragile X

00 h 41 m

In this presentation, hear an overview of how the Early Check team is integrating telehealth models in order to provide families with the necessary information, support, surveillance, and intervention.

About the Webinar

With Anne Wheeler, Beth Boyea, Katherine C. Okoniewski, and Moderated by Robby Miller
Learn more about the presenters

For a year and a half, all birthing families in North Carolina were offered voluntary newborn screening for Fragile X syndrome through an innovative research program called Early Check. Genetic counseling, developmental surveillance, family support, and early intervention programming are all offered to families whose infant screens positive for FXS or a premutation. In this presentation, hear an overview of how the Early Check team integrates telehealth models to provide families with the necessary information, support, surveillance, and intervention.

About the Panelists

Anne Wheeler

Anne Wheeler, PhD, is a licensed neurodevelopmental psychologist and senior researcher at RTI International. She is also an adjunct associate professor at the Carolina Institute for Developmental Disabilities in the UNC School of Medicine.

Dr. Wheeler has been involved in research and clinical service for individuals with Fragile X syndrome and associated neurogenetic conditions for over 20 years. Her main research interests include health and well-being among individuals with an FMR1 expansion; measurement, predictors, and consequences of specific developmental and behavioral profiles in individuals with developmental disabilities; family and maternal adaptation to genetic syndromes; and the development of a strength-based/positive psychology focus in child and family research. She currently leads the follow-up task for Early Check, assuring that all babies identified as having an FMR1 gene expansion receive confirmatory testing, genetic counseling, family support, and developmental surveillance and intervention.

Robby Miller

Robby has been affiliated with the NFXF since 1999 and has spent over 50 years helping children with special needs, their families and the professionals who work with them. He first became a part of the Fragile X community when close friends had two children with Fragile X syndrome. Robby is particularly interested in how families learn about, access, and receive meaningful care and services. This interest led to his co-founding the Fragile X Clinical & Research Consortium. In his spare time, you’ll find Robby singing and playing rhythm guitar in a band with his long-time musical partners.

Beth Boyea, MS

RTI International
Certified Genetic Counselor, Research Public Health Analyst, Early Check Genetic Counselor

Katherine C. Okoniewski, PhD

RTI International
Licensed Psychologistr, Research Public Health Analyst, Early Check Follow Up