National Outcomes Study of Fragile X Syndrome

Principal Investigator: Allan Reiss, MD

Co-Investigator: Scott Hall, PhD

Study Overview

The Center for Interdisciplinary Brian Sciences Research, directed by Allan Reiss, MD, is carrying out a nationwide longitudinal study of 150 families. There are very few longitudinal (follow-up) studies of children with fragile X syndrome, particularly of children as they enter the teenage years and adulthood. In this study, we have seen all families at least once, and have seen 80 families at least twice. In the third phase of the project, we hope to see at least 60 of the families for a third time. This design will allow for the analysis of the independent and interactive effects of genetic and environmental influences on the developmental outcome of children with fragile X.

Participation

Each of the participating families will be invited to come and stay at Stanford for a three days period for a comprehensive evaluation.. During the evaluation days, children  will be assessed using standardized tests that focus on general cognitive functioning, as well as specific visual-spatial, language, and other specific cognitive skills. Parents also complete a number of questionnaires and interviews that focus on the children's behaviors, developmental histories, school experiences, and therapeutic interventions. Parents also complete questionnaires about themselves and the home environment.

In addition to the measures focusing on environmental influences, the study includes a number of measures assessing potential biological influences on children's outcome. These include analysis of fragile X protein levels, and salivary cortisol levels. The children's cortisol, which is a hormone associated with stress, is measured over the course of the evaluation day and during two subsequent, non-stressful days. The examination of the functioning of this hormone system should be promising given the social anxiety and stress experienced by many individuals with fragile X syndrome.

Study Goals

The overarching goal of this study is to identify which factors, including interventions, educational programs, and treatments, contribute to the best developmental outcomes for affected children. In order to accomplish this goal, the study focuses on what accounts for the variation in outcomes for children with fragile X syndrome.

Because the project addresses biological, behavioral, family, and school factors, it is well-equipped to answer many important questions of concern to individuals with fragile X and their families. These questions include:

• Which behavioral and educational interventions are most effective for children with fragile X syndrome?
• How do differences in the home and family environment affect children with fragile X?
• What is the role of the protein produced by the FMR1 gene in development?
• How does the fragile X mutation cause problems in hormonal functioning?
• How are parents' stress and functioning related to the behavioral and emotional development of children with fragile X?