The Behavioral Neurogenetics Research Center (BNRC) at the Stanford University School of Medicine is conducting an in-home study of children with fragile X syndrome. The principal investigator for this study, Dr. Allan Reiss, has been working with individuals with fragile X syndrome and their families for over 15 years. Dr. Reiss is recognized as a leader in helping to broaden our understanding of the behavioral, developmental, and psychological aspects of genetic disorders. This study is funded by a grant from the National Institutes of Health. The grant covers all of the costs of the study, including travel expenses for the Stanford researchers to come to the family’s home for the evaluation, and financial compensation to the family for their participation.

The overall goal of this study is to uncover information that will contribute to the development of new and improved treatments for individuals with fragile X syndrome. This goal will be accomplished by carefully assessing the genetic, neurobiological, environmental, and hormonal factors that can influence the course of the condition. Dr. Reiss’ group will try to answer questions such as: What are the genetic and environmental factors that lead to the best developmental and behavioral outcomes of children with fragile X syndrome? What is the role of the protein produced by the FMR1 gene in brain development and function? How do hormonal patterns differ between children with and without fragile X syndrome? How do these hormone levels affect cognitive and emotional development?

To address these questions, Dr. Reiss’ research team will complete a single day, in-home evaluation with the family. The evaluation will consist of interviewing and testing both the children and the parents, filling out questionnaires, and collecting saliva samples in order to analyze hormone levels. The evaluation will take about 8 hours to complete, including breaks and lunch. If an in-home evaluation is not possible, an alternative setting in the local area can be used.

Each family will receive written feedback on the children’s test performances. Dr. Reiss and his staff are willing to speak with teachers, counselors, physicians, and/or therapists for recommendations regarding specific interventions for children with fragile X syndrome.

Families eligible for this study must have at least two children, one child diagnosed with the fragile X full mutation and the other with no mutation. Families who are unsure of their children’s diagnoses who have a family history of fragile X or developmental disabilities may be eligible for free DNA testing.