Assessment of FMR1 Gene Mutation at-Risk Status in Young Children

Abstract 

Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene, is the most commonly inherited cause of developmental disability. Fragile X syndrome occurs relatively equally in all racial and ethnic groups and is one of the few disorders affecting child behavior for which the exact gene is identified. Furthermore, from infancy, both males and females with this syndrome are predisposed for manifesting characteristic cognitive, emotional, and behavioral challenges. The purpose of this article is to illuminate the multisystemic and multifaceted phenotype of the FMR1 gene mutation by means of the parent response Biopsychosocial Screening Inventory for Fragile X, for which preliminary studies show promise.

Keywords: Fragile X syndrome, Screening, Assessment, Infants, Phenotype, FMR1 gene