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Surveillance of Fragile X syndrome in Maryland

Baltimore, MD, United States


Fragile X syndrome (FXS) is the most common inherited disorder associated with intellectual disability (ID) and a leading cause of autism spectrum disorders (ASDs). Rett syndrome (RS) is a neurodevelopmental disorder found primarily in females. As opposed to FXS, which is defined on the basis of the FMR1 full mutation, RS is described by a set of clinical criteria, most recently revised in 2001. FXS and RS, along with ASDs and ID, impart lifelong disability and are now recognized as significant public health issues. However, precise estimates of the public health impact of these developmental disabilities and, consequently, the planning of adequate, well-coordinated responses are hampered by a lack of timely, valid, and reliable estimates of the prevalence of these conditions in U.S. populations. Over the past 10 years, the public and political attention being paid to ASD, as well as FXS and RS, has intensified greatly and though high-quality epidemiologic data collection on ASDs is currently being conducted by the Autism and Developmental Disabilities Monitoring (ADDM) network, the same is not so for FXS and RS. With the ADDM surveillance system in place and the introduction of DNA-based techniques along with standardized assessments on phenotypic behaviors, a unique opportunity has arisen to launch FXS and RS surveillance systems in the United States. The proposed project will build on the ADDM ASD network’s existing infrastructure and will estimate FXS and RS prevalence rates in children with ASD and ID in a manner compatible with ADDM’s model and methodology. In addition, the project will characterize medical and educational services history, and identify associated epidemiologic factors in children with FXS and RS in Maryland. The ADDM ASD surveillance team at the Johns Hopkins Bloomberg School of Public Health will collaborate with the Center for Genetic Disorders of Cognition & Behavior at the Kennedy Krieger Institute to carry out the project. Findings from this project will help make policy and with planning educational and intervention services for children with FXS and RS.


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