Journal Publications

Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment Access full publication here. 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 ...
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FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Access full publication here. ABSTRACT BACKGROUND AND OBJECTIVE: 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 ...
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Attendance at Fragile X Specialty Clinics: Facilitators and Barriers. Access full publication here. ABSTRACT The objectives were to describe the demographic characteristics of children with Fragile X syndrome (FXS) and to determine predictors of attendance at Fragile X (FX) clinics. Findings from the Community Support Network (CSN) and Our Fragile X World (OFXW) samples showed that children who attended FX Clinics were mostly male, high-school aged or younger, and white, non-Hispanic. Using logistic regression models, awareness about FX Clinic services, guardian education, and income (CSN), and child age, family income, and total number of co-occurring conditions (OFXW) were predictors of ...
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Importance of a specialty clinic for individuals with fragile X syndrome. ABSTRACT 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 ...
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Clinicians' experiences with the fragile X clinical and research consortium. ABSTRACT 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% ...
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