Study Title: Analysis of Developmental Brain Dysfunction (DBD) in Families with Fragile X
Principal Investigator: Brenda Finucane, MS, LGC
Co-Investigator: Margaret King, PhD
What is involved in this study?
Individuals with fragile X syndrome (FXS) have developmental diagnoses across a wide range of severity. We want to understand why there is such variability in each child with FXS: why one affected child has autism while another does not; why two brothers with FXS have significant IQ differences; etc. We think that this variability may be due in part to an individual’s overall genetic background, not just the FMR1 gene mutation. We plan to examine the impact of a person’s family background by obtaining detailed family trees (called pedigrees) of individuals with FXS to look at learning and behavior patterns on both sides of their families. We will also directly measure behavioral characteristics of individuals with FXS and his or her parents and siblings using online surveys and assessments that can be done from your home computer.
Who is conducting this study?
Brenda Finucane, MS, LGC and Margaret King, PhD are researchers at the Geisinger Fragile X Clinic which is part of the Fragile X Clinical and Research Consortium. The clinic is located at Geisinger’s Autism & Developmental Medicine Institute (ADMI) in Lewisburg, Pennsylvania. ADMI is a center of clinical care, research, and education focusing on children with developmental disorders, including fragile X syndrome.
How can I participate in the study?
For more information, contact Dr. Margaret King at firstname.lastname@example.org or 570.522.9438.