Disturbances in sensory function were an important clinical feature of neurodevelopmental disorders such as fragile X syndrome (FXS). Evidence also directly connected sensory abnormalities with the clinical expression of behavioral impairments in individuals with FXS; thus, positioning sensory function as a potential clinical target for developing new therapeutics. Data recording was successfully done for ERG and assessment of CS in most individuals from both cohorts, demonstrating the feasibility of these methods in the FXS population. Similar to previously reported findings from the (Fmr1−/y) genetic mouse model, individuals with FXS were found to exhibit reduced b-wave and flicker amplitude in ERG and an impaired ability to discriminate contrasts compared to healthy controls. For a study, the researchers demonstrated the feasibility of using ERG and CS for assessing visual deficits in FXS and established the translational validity of the (Fmr1−/y) mice phenotype to individuals with FXS. By including electrophysiological and functional readouts, the outlines suggest the utility of both ERG and CS (ERG-CS) as complementary translational biomarkers for characterizing sensory abnormalities found in FXS, with potential applications to the clinical development of novel therapeutics that target sensory function abnormalities to treat core symptomatology in FXS.

 

Link:jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-021-09375-0