Carrie Buchanan, MD, Greenwood Genetic Center
Emily Casanova, PhD
Previous research suggests that hypermobility-related disorders in mothers, such as Ehlers-Danlos syndrome (EDS), may be a significant risk factor for development of autism in their children.
Our team has identified an EDS-like presentation in a subset of adult women with the Fragile X premutation.
Meanwhile, roughly 50% of children with Fragile X syndrome (FXS) develop autism.
However, it has usually been assumed that the variables underlying that risk are due to differences in genetic background.
In this study, we will be investigating the maternal EDS presentation in Fragile X premutation and its potential relationship to the occurrence of autism in the child as a first step towards addressing the roles of the uterine environment in autism risk.
In addition, because our preliminary data suggests the EDS-like presentation in Fragile X premutation may be associated with unusually low fragile X mental retardation protein (FMRP) levels, we will be collecting blood samples to measure FMRP levels in order to further study its relationship with hypermobility in these mothers.