We are excited to share journal publications like this one resulting from FORWARD data. There are many more papers currently in development, and the future for Fragile X syndrome research is bright as more data is gathered.

Importance of a Specialty Clinic for Individuals with Fragile X Syndrome


Advances in human genetics have identified a significant number of genetic disorders associated with intellectual disability. As a result, appropriate clinical management of these affected individuals and their family members have become critical in addressing medical needs to improve quality of life. We examine the importance of a Fragile X Clinic for individuals with Fragile X syndrome (FXS) and their family members by conducting a retrospective chart review of 123 new patients with FXS evaluated at the Fragile X Clinic at Emory University. After the initial diagnosis of a proband with FXS with cascade testing, there were 345 family members identified with a mutation (70% with premutations; 30% with full mutations). In terms of the impact of the clinic visit, males had a substantial number of new diagnoses in all behavioral disorders (P < 0.001), with anxiety (62%) being the most common. For female probands, the most frequent diagnosis was also anxiety (87%). Prior to the clinic visit, very few patients were prescribed psychotropic medications. After the clinic visit, the most frequently prescribed psychotropic medications for males were stimulants (41%; P < 0.001) and SSRIs (40%; P < 0.001). For females, only stimulants (33%; P = 0.03) and SSRIs (44%; P = 0.008) were statistically significantly prescribed. Our results revealed that there is a gap in care to address the co-morbid behavioral issues, psychopharmacologic medication management, and genetic counseling needs regarding FXS. A multidisciplinary setting and approach, such as that offered by a Fragile X Clinic, is one method of treating the complex needs of patients with FXS.


Visootsak, J., Kidd, S. A., Anderson, T., Bassell, J. L., Sherman, S. L., & Berry-Kravis, E. M. (2016). Importance of a specialty clinic for individuals with fragile X syndrome. American journal of medical genetics. Part A, 170(12), 3144–3149. https://doi.org/10.1002/ajmg.a.37982

Woman in protective glasses looking forward and upAbout the FORWARD Registry & Database

FORWARD is made possible by all the participating families sharing their life experiences for research. By giving families, doctors, scientific researchers, and policymakers an inside look into how Fragile X syndrome presents itself across the human lifespan, you’re involvement is a huge contribution toward more positive health outcomes and better care and services for future generations.

Below are more journal publications resulting from FORWARD data. 

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