FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome.

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Advances in the care of patients with fragile X syndrome (FXS) have been hampered by lack of data. This deficiency has produced fragmentary knowledge regarding the natural history of this condition, healthcare needs, and the effects of the disease on caregivers. To remedy this deficiency, the Fragile X Clinic and Research Consortium was established to facilitate research. Through a collective effort, the Fragile X Clinic and Research Consortium developed the Fragile X Online Registry With Accessible Research Database (FORWARD) to facilitate multisite data collection. This report describes FORWARD and the way it can be used to improve health and quality of life of FXS patients and their relatives and caregivers.


FORWARD collects demographic information on individuals with FXS and their family members (affected and unaffected) through a 1-time registry form. The longitudinal database collects clinician- and parent-reported data on individuals diagnosed with FXS, focused on those who are 0 to 24 years of age, although individuals of any age can participate.


The registry includes >2300 registrants (data collected September 7, 2009 to August 31, 2014). The longitudinal database includes data on 713 individuals diagnosed with FXS (data collected September 7, 2012 to August 31, 2014). Longitudinal data continue to be collected on enrolled patients along with baseline data on new patients.


FORWARD represents the largest resource of clinical and demographic data for the FXS population in the United States. These data can be used to advance our understanding of FXS: the impact of cooccurring conditions, the impact on the day-to-day lives of individuals living with FXS and their families, and short-term and long-term outcomes.

Sherman SL, et al. Fragile X Online Registry With Accessible Research Database (FORWARD): Experience from the Fragile X Clinical and Research Consortium to study the natural history fragile X syndrome. Pediatrics 2017;139 (Suppl 3):S183-S193

Autism in FXS

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment

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Many individuals with fragile X syndrome (FXS) also have a diagnosis of autism spectrum disorder. This new article takes a closer look at the effects of this dual diagnosis. Previously, the only information available to clinicians and researchers about autism among people with FXS was from small family studies and surveys. Thanks to FORWARD data, this paper presents new findings on co-occurring medical and behavioral conditions from a large number of people who have both FXS and autism.

This research suggests that half of males and almost 20% of females with FXS met the clinical criteria for a diagnosis of autism. This research also found that people with both FXS and autism were more likely than those with FXS alone to have seizures, sleep problems and aggressive behavior. In addition, individuals with autism and FXS had significantly higher use of medications to treat aggression (alpha-agonists and antipsychotics) than individuals with FXS alone. The paper reports that behavioral health services appear to be used less often in individuals with FXS and autism compared to individuals diagnosed with autism alone.

Tables 1 & 2: Seizures and Sleep Problems Associated With FXS+ASD and FXS Only, by Age Groups and All Ages, in Subjects Enrolled From September 7, 2012 through August 31, 2014, FORWARD Database.

Kaufmann WE, et al. Autism spectrum disorder in fragile X syndrome: characterization using FORWARD. Pediatrics 2017;139 (Suppl 3):S194-S206.

Fragile X Clinical and Research Consortium

Clinicians’ experiences with the fragile X clinical and research consortium.


The objectives of the study were to assess the attitudes and experiences of clinicians involved in a consortium of clinics serving people with fragile X-associated disorders to gauge satisfaction with the consortium and its efforts to improve quality of life for patients and the community. An internet survey was sent to 26 fragile X (FX) clinic directors participating in the Fragile X Clinical and Research Consortium (FXCRC). Respondents were asked to complete 19 questions on consortium performance and outcomes relevant for their own clinic. The response rate was 84% (22/26), with two surveys providing incomplete data. Assistance with clinic establishment, opportunities for research collaborations, and access to colleagues and information were highly valued. Approximately 76% of clinicians reported improvements in patient care and 60% reported an increase in patient services. There was a 57% increase in participation in a FX-related clinical trial among clinics since joining the FXCRC (24% vs. 81%). Overall, respondents reported primarily positive experiences from participation in the FXCRC. Common suggestions for improvement included additional financial support and increased utilization of collected patient data for research purposes. Additionally, a Clinic Services Checklist was administered annually to examine changes in services offered over time. There were several important changes regarding the provision of services by clinics, often with multiple clinics changing with respect to a service. In conclusion, the FXCRC has led to the establishment and sustainment of fragile X clinics in the U.S., fostered cooperation among fragile X clinicians, and provided clinics with a platform to share recommendations and best practices to maximize quality of life for their patients and the overall fragile X community. The results from the survey and checklist also provide suggestions to strengthen the FXCRC and enhance future collaborations among FXCRC members.

Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J. 2016. Clinicians’ experiences with the fragile X clinical and research consortium. Am J Med Genet Part A 170A:3138–3143.

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