Jeannie Visootsak

TL;DR: The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome).

TL;DR: The FMR1 gene product, FMRP, is a selective RNA-binding protein that negatively regulates local protein synthesis in neuronal dendrites that results in reduced synaptic strength due to AMPA receptor trafficking abnormalities that lead to the fragile X phenotype.

TL;DR: The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.

TL;DR: The mGluR theory of fragile X syndrome could not be confirmed nor the ability of the methylation state of the FMR1 promoter to predict mavoglurant efficacy, and preclinical results suggest that future clinical trials might profitably explore initiating treatment in a younger population with longer treatment duration and longer placebo run-ins.

TL;DR: It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment and improved care may lead to better quality of life for these patients and their families.